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July 31, 2023

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Autism cures may be closer as focus turns to early treatment

by Vittoria D'alessio, Horizon: The EU Research & Innovation Magazine

Fresh insights into the genes that cause the neurological disorder could open new routes for the prevention and perhaps even reversal of symptoms.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition that has been intensely investigated since the mid-20th century. It's estimated that ASD affects around 1 in 100 children and mainly boys.

Studies suggest that ASD is closely linked to genetics. The basic challenge is untangling the relationships between the many genes involved and the symptoms.

Genes and symptoms

A focus on these links has the potential to enhance understanding of the condition and treatments for it.

For instance, children born with a rare genetic mutation—on a gene called BCKDK—are more likely to develop impairments that, left untreated, would likely result in lifelong autism. Symptoms can include intellectual disability, epilepsy and a condition—microcephaly—where a baby's head is smaller than expected.

The faulty gene in question disrupts the way the brain can process essential nutrients known as branched-chain amino acids and creates the conditions for delayed neurological development.

"This got us thinking: now we know what causes this neurodevelopmental disorder, can we reverse it once the brain has developed?" said Gaia Novarino, a neuroscience professor whose team discovered the BCKDK mutation and its link to autism in 2012. "Can we go back in time?"

Award winner

Novarino is a high-profile neuroscientist from Italy who has received numerous awards for her work in the field of autism research, including the Order of Merit of the Italian Republic.

"I have always been interested in genetic disorders and was struck by the general lack of understanding of pediatric, neurodevelopmental disorders," she said. "We know too little about these diseases."

Because autism shapes the developing brain long before birth, many assume it's irreversible—a lifelong condition that, at best, can be managed with psychological support paired with speech and physical therapy.

Some people prefer to forgo treatment because they don't believe autism needs to be cured, regarding it as an integral part of personality.

"Not everyone wants their ASD, or their child's ASD, to be treated," said Novarino. "If symptoms aren't profound, a person can live with the condition with minimal support and they may come to see their autism as an essential part of who they are."

In any case, more recent research has led scientists to assess whether some forms of ASD may be treatable—either fully or in part.

Novarino's team, based at the Institute of Science and Technology in Austria near Vienna, turned to mice for answers under a five-year European research project called REVERSEAUTISM that ended in September 2022.

The researchers genetically engineered mice to be unable to process essential amino acids correctly, similarly to children with the BCKDK genetic mutation.

Amino acids are protein building blocks needed for vital reactions within and between nerve cells. The body can't make amino acids itself and instead must find them from foods such as meat, fish, grains and nuts.

The team found that rodents with the mutation developed both motor and social difficulties after birth.

"These mice have behavioral issues," said Novarino. "They also move in a strange way, with coordination problems."

REVERSEAUTISM then took this research one step further to see whether, by injecting the missing amino acids directly into the brains of affected mice, their autism-like symptoms could be reversed.

"The answer was yes," said Novarino. "Not all symptoms disappeared, but there was considerable improvement in both social behavior and coordination in mice that received injections. In other words, some signs of the disorder were reversed."

Study of 21 infants

REVERSEAUTISM's findings so intrigued Dr. Angeles García-Cazorla of Spain that she decided to study whether children with a BCKDK deficiency showed symptom improvements after taking the missing amino acids as a food supplement in conjunction with a high-protein diet.

García-Cazorla is head of Metabolic Diseases Unit at the Hospital Sant Joan de Déu in Barcelona. The missing amino acids are leucine, valine and isoleucine.

The study was based on 21 patients, aged between 8 months and 16 months, recruited from centers around the world. The results were very promising.

"In general, all patients improved, in particular regarding the growth of their head, which means there was a proliferation of neurons," said García-Cazorla. "They also showed improved motor function. Infants who weren't able to walk could now walk and infants who couldn't speak developed some basic language."

Sooner the better

The earlier treatment was begun, the better the outcomes were.

"In the three children who started supplementation before the age of two, the evolution was much better and the child who started at 8 months did best—she had normal brain development, with no signs of autism, by the age of three," said García-Cazorla.

The study was carried out under an EU-initiated health alliance called the European Reference Network for Rare Hereditary Metabolic Disorders ( MetabERN ), which is led by patients and experts.

If future studies involving a larger cohort of BCKDK-deficient infants validate the results of the MetabERN investigation, García-Cazorla and Novarino hope national health policies will be changed to require all babies to be tested for BCKDK deficiency at birth.

This would form part of the newborn heel prick test, which checks up to 25 rare but serious health conditions.

"One of the challenges in the field of autism is that diagnosis is usually done quite late—rarely before the age of 3 or 4—and at that point it becomes hard to treat," said Novarino. "Our work shows that starting supplementation early can make a real difference to people's lives."

She and her team are pursuing this line of research in a European project called SecretAutism that began in December 2022 and will run through November 2027. They received EU funding to grow brain tissue in the laboratory using human stem cells.

By studying these "organoids," the researchers hope to gain further insights into what exactly the many different genes associated with autism are doing in the body, the stages at which problems develop and how to interrupt the process.

"We're approaching this from many angles, trying to understand how else we can treat patients with ASD," said Novarino. "It's very complex research, but that won't put us off."

REVERSEAUTISM
SecretAutism

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Treatment for autism symptoms earns ASU researchers patent

Microbiota transplant therapy offering hope to those with autism spectrum disorder.

ASU Professor Rosa Krajmalnik-Brown and Assistant Professor Daewook Kang wearing white lab coats in a lab setting.

ASU Professor Rosa Krajmalnik-Brown and Assistant Professor Daewook Kang (now with the University of Toledo) in an ASU file photo from 2017. Krajmalnik-Brown, Kang and Professor James Adams are three of six co-inventors who were awarded a patent for their treatment for autism and related symptoms.

Editor’s note: This story is featured in the 2022 year in review .

A new treatment for autism, created by Arizona State University researchers and their colleagues, has been granted a patent by the U.S. Patent Office. The therapy, called Microbiota Transplant Therapy (MTT), is aimed at improving chronic gastrointestinal symptoms often associated with the disorder.

Receiving the approval of the patent for this promising treatment is also an important step toward developing a Food and Drug Administration approved medication for treating the core symptoms of autism. An initial study of Microbiota Transplant Therapy suggests that it may be effective in treating both core autism symptoms and chronic gastrointestinal symptoms.

Rosa Krajmalnik-Brown , ASU professor and director of the Biodesign Center for Health Through Microbiomes, and a pioneer in research on the gut microbiome and autism, is a co-inventor of the treatment.

“Our mission at the ASU Biodesign Center for Health Through Microbiomes is to improve human health by developing new methods to modify the microbiome. This is at the core of our center, and it’s exciting that we have a patent to achieve this,” said Krajmalnik-Brown, a professor with the School of Sustainable Engineering and the Built Environment.

Autism now affects one in 44 children in the United States, often presenting major challenges in language, social interactions and behavior. Many people with autism have significant health problems, including 30–50% with chronic gastrointestinal symptoms such as constipation, diarrhea and abdominal pain. These symptoms are difficult to treat and can persist for many years or even decades. Chronic pain caused by gastrointestinal distress can worsen other symptoms associated with autism, including irritability, attention deficits, behavioral issues and sleep disturbances.

“We are excited about this patent approval. Our open-label pilot study and two-year follow-up study found major improvements in gastrointestinal and autism symptoms. Now, we are conducting randomized clinical trials to fully evaluate the efficacy of treatment with MTT,” said co-inventor James Adams . Adams is a professor with the School for Engineering of Matter, Transport and Energy, one of the seven Ira A. Fulton Schools of Engineering at ASU.

James Adams

In 2017, the ASU researchers and their collaborators developed MTT to improve gastrointestinal symptoms. MTT involves pre-treatment with a special antibiotic to eliminate harmful bacteria, a bowel cleanse to remove remaining bacteria, and purified intestinal microbiota from healthy, carefully screened human donors.

The treatment, similar to the fecal transplant commonly used to treat intestinal infections such as C. Difficile, involves 10 weeks of intense daily therapy. The approach is based on pioneering research by Dr. Thomas Borody with the Centre for Digestive Diseases in Australia, who first used this method to successfully treat his patients with autism, and Professors Alex Khoruts and Michael Sadowsky at the University of Minnesota, who developed the methods for producing purified microbiota.

In their 2017 study, Adams, Krajmalnik-Brown and their research team found that MTT reduced gastrointestinal symptoms by approximately 80%, and initially reduced autism symptoms by about 25%. But, as an open-label study, they observed some placebo-effect. A follow-up study of all 18 participants two years after the treatment was completed found that most continued to see a considerable improvement in gastrointestinal symptoms. Additionally, an expert autism evaluator reported a nearly 50% reduction in core autism symptoms.

Measurements of the participants’ microbiota at Krajmalnik-Brown’s lab by Assistant Professor Daewook Kang (now with the University of Toledo) showed that although the children, aged 7 to 16 at the time of the study, initially had a low diversity of gut bacteria, the diversity and presence of beneficial microbes had increased and improved in the two years following the treatment. Based on these promising results, the FDA granted “fast track” status for MTT in 2019, which means a rapid review and more assistance from the FDA.

Recent research suggests our gut microbiomes affect brain communication and neurological health. Worldwide, interest is growing in the idea that changes in normal gut microbiota may be responsible for triggering various conditions. At ASU, a research team is exploring using the microbiome to treat autism symptoms. Image by Shireen Dooling

Approval of the patent is also important because pharmaceutical companies can invest in conducting Phase 2 and Phase 3 clinical trials, which are required for FDA approval and release of the treatment to the public. The patent has been licensed to Finch Therapeutics, which is planning clinical trials in mid-2022.

Meanwhile, the ASU team is continuing its own Phase 2 clinical trials for adults with autism (the final participants have started treatment) and children with autism (half of the participants have started treatment). These studies will be important for ultimately winning FDA approval.

Information on the patent, as well as a full list of collaborators, can be found on the U.S. Patent Office website (U.S. Patent number 11202808).

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Researchers Studying Century-Old Drug in Potential New Approach to Autism

Small, randomized clinical trial reported measurable, but transient, benefits after single dose of suramin, highlighting novel causative theory and need for more, larger and longer trials.

A colorized transmission electron micrograph of cellular mitochondria, which produce a small molecule called ATP. Inside cells, ATP serves as an energy source but released outside the cell, it acts as a danger signal. Suramin inhibits the signaling function of ATP, eliminating the cell danger response associated with autism. Photo by Thomas Deerinck, National Center for Microscopy and Imaging Research, UC San Diego

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Cell Danger Response

Naviaux, who is co-director of the Mitochondrial and Metabolic Disease Center at UC San Diego, believes that ASD — and several other chronic conditions, including chronic fatigue syndrome and some autoimmune disorders — are caused by metabolic dysfunction or impaired communication between cells in the brain, gut and immune system.

Robert K. Naviaux, MD, PhD, professor of medicine, pediatrics and pathology, and co-director of the Mitochondrial and Metabolic Disease Center at UC San Diego School of Medicine, led the study that tested suramin in children with autism spectrum disorder.

Specifically, this dysfunction is caused by abnormal persistence of the cell danger response (CDR), a natural and universal cellular reaction to injury or stress. “The purpose of CDR is to help protect the cell and jump-start the healing process,” said Naviaux, by essentially causing the cell to harden its membranes, cease interaction with neighbors and withdraw within itself until the danger has passed.

“But sometimes CDR gets stuck,” Naviaux said. “This prevents completion of the natural healing cycle and can permanently alter the way the cell responds to the world. When this happens, cells behave as if they are still injured or in imminent danger, even though the original cause of the injury or threat has passed.”

At the molecular level, cellular homeostasis or equilibrium is altered, creating an abnormal cellular response that leads to chronic disease. “When this happens during early child development,” said Naviaux, “it causes autism and many other chronic childhood disorders.”

Suramin works by inhibiting the signaling function of adenosine triphosphate (ATP), a nucleotide or small molecule produced by cellular mitochondria and released from the cell as a danger signal. When CDR is activated, the effect of extracellular ATP is similar to a warning siren that never stops. Suramin inhibits the binding of ATP and similar molecules to key purinergic receptors, according to Naviaux. It silences the siren, “signaling the cellular war is over, the danger has passed and cells can return to ‘peacetime’ jobs like normal neurodevelopment, growth and healing.”

“There is evidence, gathered over the past 10 to 15 years, that children with ASD can exhibit oxidative stress, an outcome of the cell danger response,” said Pat Levitt, PhD, Simms/Mann Chair in Developmental Neurogenetics at Children’s Hospital Los Angeles and W.M. Keck Provost Professor in Neurogenetics at Keck School of Medicine of University of Southern California. “This can impact how well neurons and circuits function. Why this would impose problems on certain circuits that mediate specific behaviors, such as social communication, is unclear, but this is why understanding how genetic risk and environmental factors combine to increase risk for autism spectrum disorder is important.”

Levitt was not involved in the study.

Dramatic, but Temporary Benefit

“We had four non-verbal children in the study,” said Naviaux, “two 6-year-olds and two 14-year-olds. The six-year-old and the 14-year-old who received suramin said the first sentences of their lives about one week after the single suramin infusion. This did not happen in any of the children given the placebo.”

Developed in 1916 by German dye manufacturers Frederich Bayer and Co., Bayer 205 (later renamed suramin) was found to be effective against parasitic trypanosomes responsible for African sleeping sickness (trypanosomiasis). This bottle of suramin powder was given out free of charge for clinical trials of the first production batch. Photo courtesy of Science Museum, London.

Additionally, Naviaux said, “that during the time the children were on suramin, benefit from all their usual therapies and enrichment programs increased dramatically. Once suramin removed the roadblocks to development, the benefit from speech therapy, occupational therapy, applied behavioral analysis and even from playing games with other children during recess at school skyrocketed. Suramin was synergistic with their other therapies.”

Naviaux and colleagues do not believe CDR is the cause of ASD, but rather a fundamental driver that combines with other factors, such as genetics or environmental toxins. And suramin, at this stage, is not the ultimate answer.

Unlike treatment for African sleeping sickness, which involves multiple, higher doses of suramin over a period of time and frequently results in a number of adverse side effects ranging from nausea and diarrhea to low blood pressure and kidney problems, researchers said the single, low dose of suramin used in the ASD trial produced no serious side effects beyond a passing skin rash.

But the therapeutic benefit of suramin was temporary: Improvements in the treated boys’ cognitive functions and behaviors peaked and then gradually faded after several weeks as the single dose of suramin wore off.

The primary import of the trial’s findings, said Naviaux, is that it points a way forward, that suramin should be tested in larger, more diverse cohorts of persons with ASD. (Naviaux said his research has been limited by costs; his lab is primarily supported through philanthropy.)

“This work is new and this type of clinical trial is expensive,” he said. “We did not have enough funding to do a larger study. And even with the funding we were able to raise, we had to go $500,000 in debt to complete the trial.”

Larger and longer trials would include multiple doses of suramin over longer periods of time, allowing researchers to map whether improvements continue or if uncommon side effects appear when participant numbers are greater.

If Not Suramin, Maybe Something Like It

Andrew W. Zimmerman, MD, a clinical professor of pediatrics and neurology at the UMass Memorial Medical Center who was not involved in the suramin trial but is conducting similar research, described the study results as “very encouraging for the field of autism, not only for the positive effects of suramin for the children who received the drug, but also for confirmation of the important ‘cell danger response.’

African sleeping sickness (trypanomiasis) is caused by the bite of tsetse flies infected by protozoan parasites belonging to the genus Trypanosoma. Tsetse flies are found only in sub-Saharan Africa; only some species transmit the disease. Photo courtesy of Geoffrey M. Attardo.

“As the authors point out, many genetic variants have been found in ASD, but few have led to specific treatments. The CDR includes a number of metabolic pathways that may be affected by a number of genetic mutations or by environmental factors that have effects epigenetically — beyond the genes themselves.”

The Food and Drug Administration has not approved suramin for any therapeutic use in the United States. It is not commercially available. Naviaux noted that new trials could prove suramin is not an effective ASD treatment. Its benefits may prove too limited over the long term, he said, or an unacceptable safety issue might arise.

But “even if suramin itself is not the best antipurinergic drug for autism, our studies have helped blaze the trail for the development of new antipurinergic drugs that might be even better,” said Naviaux. “Before our work, no one knew that purinergic signaling abnormalities were a part of autism. Now we do, and new drugs can be developed rationally and systematically.”

Levitt at USC agreed: “The suramin pilot study is too small from which to draw specific conclusions about the treatment, but there is no doubt that the pilot study reports positive outcomes for all five children who received the medication. The findings provide a strong rationale for developing a larger study that can probe functional improvements in children in greater depth.”

The potential financial cost of ASD treatment using suramin cannot yet be determined for several reasons, the study authors said. First, additional trials are required to determine the effective dosage and frequency for different types of patients. Suramin is used much differently for treating sleeping sickness, but the cost for a one month course of treatment is modest: approximately $27. Second, the age of the drug means that, if approved, it would almost certainly result in cheaper, generic formulations, but there is no way to accurately predict how that would play out at this time.

John Rodakis, founder and president of the N of One: Autism Research Foundation, which provided funding support for the study, said that despite all of the necessary caveats and need for additional research, the findings are “promising, hopeful work for a community of affected families that have been given little in the way of answers by medicine.”

Special Note from the Authors

Suramin is not approved for the treatment of autism. Like many intravenous drugs, when administered improperly by untrained personnel, at the wrong dose and schedule, without careful measurement of drug levels and monitoring for toxicity, suramin can cause harm. Careful clinical trials will be needed over several years at several sites to learn how to use low-dose suramin safely in autism, and to identify drug-drug interactions and rare side effects that cannot currently be predicted. We strongly caution against the unauthorized use of suramin.

Co-authors include: Brooke Curtis and Alan Lincoln, Alliant International University; Kefeng Li, Jane C. Naviaux, A. Taylor Bright, Gail E. Reiner, Marissa Westerfield, William A. Alaynick, Lin Wang, Edmund V. Capparelli, Cynthia Adams, Ji Sun, Sonia Jain, Feng He, Deyna A. Arellano, Lisa E. Mash, Leanne Chukoskie, and senior author Jeanne Townsend, UC San Diego; and Suzanne Goh, Pediatric Neurology Therapeutics.

Funding for this research came entirely from philanthropic donations, including support from the William Wright Family Foundation, the UC San Diego Christini Fund, the Autism Research Institute, the Lennox Foundation, the Gupta Family and Satya Fund, the Agrawal Family, Linda Clark, the N of One: Autism Research Foundation, the Rodakis Family, the It Takes Guts Foundation, the UC San Diego Mitochondrial Disease Research Fund, Elizabeth Mumper Cooper and the Daniel and Kelly White Family. Funding for the mass spectrometers was provided by a gift from the Jane Botsford Johnson Foundation.

Disclosure: Robert Naviaux has filed a provisional patent application related to antipurinergic therapy of autism and related disorders. He is a scientific board member for the Autism Research Institute and the Open Medicine Foundation. Edmund V. Capparelli is a DSMB member for Cempra Pharmaceuticals and The Medicines Company, and a consultant for Alexion. Suzanne Goh is co-owner of MitoMedical.

For non-media information: Contact the Naviaux lab at naviauxlab.ucsd.edu

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An Update on Psychopharmacological Treatment of Autism Spectrum Disorder

Current Perspectives
Open access
Published: 14 January 2022
Volume 19 , pages 248–262, ( 2022 )

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Ramkumar Aishworiya 1 , 2 , 3 ,
Tatiana Valica 1 , 4 ,
Randi Hagerman ORCID: orcid.org/0000-0001-5029-8448 1 , 5 &
Bibiana Restrepo 1 , 5

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While behavioral interventions remain the mainstay of treatment of autism spectrum disorder (ASD), several potential targeted treatments addressing the underlying neurophysiology of ASD have emerged in the last few years. These are promising for the potential to, in future, become part of the mainstay treatment in addressing the core symptoms of ASD. Although it is likely that the development of future targeted treatments will be influenced by the underlying heterogeneity in etiology, associated genetic mechanisms influencing ASD are likely to be the first targets of treatments and even gene therapy in the future for ASD. In this article, we provide a review of current psychopharmacological treatment in ASD including those used to address common comorbidities of the condition and upcoming new targeted approaches in autism management. Medications including metformin, arbaclofen, cannabidiol, oxytocin, bumetanide, lovastatin, trofinetide, and dietary supplements including sulforophane and N-acetylcysteine are discussed. Commonly used medications to address the comorbidities associated with ASD including atypical antipsychotics, serotoninergic agents, alpha-2 agonists, and stimulant medications are also reviewed. Targeted treatments in Fragile X syndrome (FXS), the most common genetic disorder leading to ASD, provide a model for new treatments that may be helpful for other forms of ASD.

An overview on neurobiology and therapeutics of attention-deficit/hyperactivity disorder

Concerns About ABA-Based Intervention: An Evaluation and Recommendations

Autism Spectrum Disorders and ADHD: Overlapping Phenomenology, Diagnostic Issues, and Treatment Considerations

Avoid common mistakes on your manuscript.

Introduction

ASD is a complex neurodevelopmental, biologically based condition with an estimated prevalence of 1 in 44 people [ 1 ] that impacts all areas of child development — from behavior, problem solving abilities and self-care skills, to complex social communication ability, language, and executive functioning skills. The range of symptoms and severity of ASD vary greatly from child to child, and clinical manifestations depend on the individual’s age, cognitive and language abilities, and co-occurring conditions. The last revision of the Diagnostic and Statistical Manual (DSM-5) defines ASD as impairments in two main domains: (1) social communication and interaction, which comprises challenges in social-emotional reciprocity, challenges in using nonverbal strategies during social interaction, and challenges developing, maintaining and understanding relationships, and (2) restricted, repetitive, and stereotyped patterns of behavior, manifested by unusual repetitive movements or behaviors, restricted interests, insistence on sameness and inflexible adherence to routines, as well as sensory challenges ranging from seeking to avoiding certain sensory stimuli [ 2 , 3 , 4 ]. However, a range of behavioral, cognitive, and emotional disturbances in ASD can also be attributed to a high rate of co-occurring mental health and medical conditions such as attention deficit hyperactivity disorder (ADHD), anxiety, depression, phobias, intellectual disability, speech/language impairment, restrictive/avoidant food intake, sleep issues, sensory processing issues, and genetic conditions. This often makes the recognition, diagnosis, and clinical management of ASD even more complex and difficult [ 5 , 6 , 7 , 8 ].

Classic medical management of medical conditions has largely revolved around pharmacological treatment. However, despite decades of research in ASD, current evidence has only established behavioral (non-pharmacological) treatments as the mainstay of management to address the core symptoms of ASD. Part of the reason for a lack of efficacy in many treatment studies stems from the heterogeneous etiology underlying the overall term of ASD. Some studies have subdivided enrolled patients either by their genetic etiology or phenotypic features to address this. The aim of this paper is to provide a current update on the pharmacological treatments available for ASD and therapeutic subtypes of ASD, covering both the established ones and upcoming/emerging treatments which have potential based on scientific evidence to become standard treatments in the next few years. A systematic literature search was completed on Medline, Scopus, and Embase with key search terms of “autism,” “autism spectrum disorder,” “targeted treatments,” “pharmacological therapy,” and “management” to identify relevant articles. Here we have highlighted the psychopharmacological treatments that have the most efficacy and are also, in most cases, available now or in the near future to clinicians. However, we also recognize the current mainstay of behavioral intervention in the management of ASD and will briefly review those which are supported by strong empirical evidence.

Non-pharmacological (Behavioral) Interventions

In 1987, Lovaas published an article which introduced a new treatment approach describing a significant improvement of IQ scores and educational functioning in almost 50% of children with ASD [ 9 ]. Also known as The Lovaas Method of Applied Behavior Analysis, and subsequently as discrete trial training (DTT), it is an intensive, highly structured, long-term, one-on-one behavior intervention designed for young children, which has a strong empirical support and has become the foundation for many of the evidence-based behavioral interventions in use today [ 10 ]. Subsequently, through decades of extensive research, a number of modifications and adaptations of the Lovaas method have since been developed. These can be used in different settings, environments, and procedures, and have been shown to be effective in addressing the core impairments of ASD in social communication, speech, behaviors, play, and learning [ 11 , 12 , 13 , 14 ].

Odom et al. [ 13 ] and Wong et al. [ 15 ] have classified behavioral evidence–based interventions into two groups: comprehensive treatment models (CTMs) and focused interventions.

Comprehensive treatment models focused on core ASD symptoms have been found to improve language, cognitive, and functional language skills in young children, using intensive and long-term multi-disciplinary strategies in naturalistic environments. Instructions can be provided at home or in a classroom setting, individually or in a group, provided by instructors or by parents. Examples of well-established CTMs include Early Behavior Intervention (EIBI) [ 16 ], Early Start Denver model (ESDM) [ 17 ], Developmental, Individual difference, relationship-based model (DIR/Floortime, or Greenspan model) [ 18 ], Pivotal Response Training (PRT) [ 19 ], and Treatment and education of autistic and related communication handicapped children (TEACCH) [ 20 ].

Focused interventions address a single skill or a specific area of developmental domain and are provided for a short time, until the skill is mastered. They can also be effective to address life-threatening or socially inappropriate behaviors that require rapid addressing. Examples include social skill training, toilet training, modeling, cognitive behavioral intervention, and behavioral strategies like prompting, ignoring, time delay, reinforcement, discrete trial teaching, and extinction. These can be implemented as a structured session or in a naturalistic setting at home, school, clinic, or community settings, with peers or parents, and have behavioral, developmental, or educational purposes. Peer-mediated Instruction and Intervention (PMII), also known as “Peer Modeling,” “Peer Initiation Training,” “Peer support” [ 21 , 22 ], and Picture Exchange Communication System (PECS) [ 23 ], are also other examples of focused interventions.

Behavioral interventions work most effectively when started at an early age and the majority cater to young children to optimize their development and learning skills. The sociocultural beliefs and economic capability of the family also moderate treatment impact and outcome [ 24 ]. However, behavioral interventions do have a role in older children, adolescents, and adults as well; the targets of these interventions change in older individuals to include social, vocational, leisure skills, and independent living. Research in behavioral interventions for adults with ASD is still limited and will need to be expanded in future.

Established Psychopharmacological Treatments

The use of psychotropic medications has markedly increased over the last decades; approximately two-thirds of autistic adolescents have been treated with psychotropic medications, especially those with challenging behaviors and co-occurring conditions like intellectual disability (ID), medical, and mental health diagnoses. Co-occurring mental health conditions have been reported in approximately 70% of autistic individuals ranging from attention deficit and hyperactivity disorder (ADHD), irritability, aggression, mood, and anxiety issues [ 8 , 25 , 26 ]. Mandell et al. reported that 56% were prescribed at least one psychotropic medication and 20% were prescribed three or more [ 27 ]. Individuals with ASD frequently are treated with multiple medications, including off-label use (e.g., use of antipsychotic medications in younger children). Studies have reported high rates of polypharmacy ranging from 12 to 35% based on the type of studies [ 28 , 29 ]. The increasing prescription rates for individuals with ASD is not completely understood. For instance, some authors have postulated that this may be influenced by improvements in diagnostic and clinician awareness of co-occurring mental health issues [ 25 ]. However, other researchers have reported demographic factors influencing pharmacological treatment. For instance, in a large study, those who were uninsured or exclusively privately insured were less likely to use more than 3 medications than were those insured by Medicaid [ 30 ]. Prescription medications may also be affected by demographic factors including race, ethnicity, and geography. Studies have reported that challenging behaviors and mental health diagnoses are influencing factors [ 29 ]. For example, polypharmacy is often necessary since one treatment for anxiety may not be helpful for another comorbid condition such as ADHD. Such polypharmacy will be more common as specific treatments for dysfunctional pathways are utilized which go hand in hand with other treatments for common comorbidities of ASD. An example is metformin which can downregulate the mTOR pathway, and this treatment works well with stimulants for ADHD and also Selective Serotonin Reuptake Inhibitors (SSRIs) for anxiety.

Prescribers must consider medications not only for symptoms of associated psychopathology but also as targeted treatments that have the potential to reverse the neurobiological abnormalities and should be considered as a part of an individualized therapeutic program with behavioral and educational interventions.

General Principles in Using Pharmacological Treatment in ASD

Frequently, identification and management of psychiatric issues can be complex, especially for those with limited language repertoire, low cognitive function, and those experiencing uncertain symptoms. Diagnostic overshadowing is common (failure to identify other conditions in the presence of a certain diagnosis). A high level of clinical suspicion for co-occurring mental health conditions is required for children and adolescents with communication challenges. Managing clinicians should obtain information from the child, when possible, family and other providers including teachers and therapists. Environmental changes and lack of skills can be the source of undesired behaviors and should be considered in the plan of care.

Pharmacological interventions are sometimes indicated and may facilitate their participation in therapy and enhance their daily functioning. The principles used for psychopharmacological management are the same for children with ASD as for those with typical development. However, prescribers should keep in mind that children with ASD tend to be more sensitive to medication effects and more likely to have adverse effects than children without ASD. Therefore, pharmacological treatment should be started at lower doses, and adjusted more slowly than in neurotypical children. Obtaining objective symptom measures from different sources before and after the intervention is key to objectively evaluate the response of treatment in different settings.

Serotoninergic Medications

Serotoninergic medications regulate the levels of serotonin which is a key messenger specially involved in the gastrointestinal, cardiovascular, and the central nervous system (CNS). The serotonin level has been reported to be elevated in the autistic population, and it has been theorized that serotonin dysregulation is associated with symptoms frequently seen in autistic individuals ranging from repetitive behaviors to anxiety. PET studies have demonstrated that young children (under 5 years old) with ASD have lower levels of serotonin in the CSF [ 31 ]. Studies of lymphoblastoid cell lines in patients with ASD compared to controls have demonstrated a deficit of enzymes that convert tryptophan to serotonin [ 32 ]. These studies suggested that those with ASD would benefit from treatment with an SSRI to stimulate neurogenesis and neuroprotection [ 33 ]. There are three different groups of medications that influence the serotonin levels: the SSRIs, SNRIs (serotonin-norepinephrine reuptake inhibitors), and tricyclic antidepressants. The SSRIs are one of the most commonly prescribed medications for autistic individuals to treat anxiety, mood issues, and irritability. However, results of available clinical trials have been inconsistent in the benefits of SSRI’s for improving aggression and the core symptoms of ASD [ 34 ].

A retrospective study of children with FXS (ages 12 to 50 months) demonstrated improvement in the trajectory of both receptive and expressive language measures on the Mullen Scales of Early Learning (MSEL) in those treated with low-dose sertraline vs those who did not receive sertraline [ 35 ]. These results led to a controlled trial for 6 months of sertraline in children ages 2 to 6 with FXS (60% also had ASD) treated clinically with low dose sertraline (2.5 to 5.0 mg/day) [ 36 ]. Those treated with sertraline demonstrated greater improvement in motor and visual subtests and the Cognitive T score on the MSEL compared to those on placebo. In the children with both FXS and ASD, there was also significant improvement on the Expressive Language subscale compared to placebo [ 36 ]. In the same controlled trial, a passive visual eye tracking measure of receptive vocabulary was also significantly improved in those treated with sertraline compared to placebo [ 37 ]. These studies suggest that young children with FXS both with and without ASD benefit from low-dose sertraline treatment. However, a similar study in young children ages 2 to 6 with idiopathic ASD (without FXS) treated with low-dose sertraline did not demonstrate a benefit of sertraline compared to placebo [ 38 ]. Therefore, the genetic subtype of ASD makes a difference in response to treatment and all children diagnosed with ASD must have genetic testing including Fragile X DNA testing and a CGH array for starters and subsequent whole exome sequencing (WES) or whole genome sequencing (WGS) if the initial studies are negative [ 39 ].

Atypical Antipsychotics

There are two medications approved by the FDA for the treatment of irritability associated with ASD: risperidone, approved for children older than 5 years of age [ 40 ], and aripiprazole, approved for children 6 to 17 years of age [ 41 ]; clinical trials found them to be effective in reducing irritability and, to a lesser degree, repetitive behaviors. These two atypical antipsychotic medications have affinity for dopamine, 5-HT, alpha-adrenergic, and histaminergic receptors in the brain. They also share similar safety profiles; the most common side effects include fatigue, increased appetite, GI symptoms, hyperprolactinemia, weight gain, and sedation, and less commonly activation including restlessness and akathisia. They are also linked to more serious side effects including dyslipidemia, hyperglycemia, metabolic syndrome, and extrapyramidal symptoms or drug-induced movement disorders. Therefore, close clinical and laboratory monitoring is recommended. Given that the efficacy and safety of these medications have not been established for the long-term treatment of irritability in autistic individuals, it is important to periodically re-evaluate the need for continuation of treatment. Since the development of atypical antipsychotics, the use of the conventional antipsychotics has been reserved for more severe cases refractory to the newer generation medications, due to the narrower safety profile and greater incidence of adverse reactions including extrapyramidal symptoms such as tardive dyskinesia with conventional antipsychotics.

Stimulant Medications

Stimulants are usually the first line of treatment to treat co-occurring attention deficit and hyperactivity disorder (ADHD) as they present with a rapid clinical effect and there is enough data supporting their use and safety. Approximately half of autistic children also meet criteria for ADHD [ 42 ], but prevalence widely varies based on samples [ 8 , 43 , 44 , 45 , 46 , 47 ]. Treating co-occurring ADHD symptoms in autistic individuals should focus on improvement in enhancing their daily function in multiple settings, including learning, and hopefully long-term functional outcomes improving associated symptoms causing impairment in the academic setting, peer relationships, and emotional regulation, which are also key predictors and mediators of functional difficulties in adulthood. Before starting a patient on a regimen, the prescribing clinician should assess the potential risks for pharmacotherapy by obtaining a complete past medical history, family history, and a physical examination with a specific focus on the cardiovascular system. It is important to obtain pretreatment baseline information and a close follow up to objectively evaluate the impact of common side effects associated with pharmacotherapy for ADHD (i.e., appetite changes, hypertension, weight loss, sleep disturbances, headaches, abdominal pain). Baseline sleep problems do not appear to predict stimulant-related sleep problems and may improve with stimulant therapy [ 48 ]. Adolescent patients should be assessed for substance use or abuse prior to starting treatment.

There are two main stimulant families: the amphetamines are usually slightly more efficacious than the methylphenidate derivates which are usually better tolerated [ 49 ]. In a systematic review and network meta-analysis that included 81 published and unpublished randomized trials in > 10,000 neurotypical children, amphetamines were slightly more efficacious than methylphenidate in reducing clinician-rated core symptoms of ADHD at approximately 12 weeks; however, amphetamines were less tolerable than placebo and methylphenidate was better tolerated than amphetamines [ 49 ]. Specific systematic review of four-crossover trials in autistic children (113 participants) age 5 to 13 years found low-quality evidence that short-term treatment with methylphenidate may improve hyperactivity and inattention in children with ASD, and the only significant adverse side effect was reduced appetite as rated by parents; however, there was no evidence of impact on core ASD symptoms or improvement in social interaction [ 50 ]. In the largest crossover trial, approximately 50% of children with ASD responded to methylphenidate based on the hyperactivity subscale of the Aberrant Behavior Checklist (ABC); the effect size ranged from 0.20 to 0.54, depending upon dose and rater, with greater improvement at higher doses; then, this modest effect supports that Methylphenidate exerts a lower effect on primary ADHD symptoms in individuals with ASD compared to those in the neurotypical population. Six of 66 children in the double-blind phase (9.1%;) discontinued treatment due to adverse effects, including irritability, repetitive behaviors, tics, insomnia, and reduced appetite [ 51 ].

Treatment failure is defined by lack of satisfactory improvement in core symptoms of ADHD at the maximum dose or the occurrence of intolerable adverse effects. At least half of the children who presented with an inadequate response or side effects to a certain medication may respond well to another one. For those children failing to respond to two different medications, the prescriber should evaluate other causes for the limited therapeutic response including (1) the presence of comorbid psychiatric diagnosis, (2) unrealistic expectations about the expected clinical response, (3) misuse or medication diversion, and (4) lack of adherence to the regimen. Children on stable maintenance dose should be followed every 6 months to monitor side effects and evaluate clinical response.

Alpha-2-adrenergic Agonists

There is also evidence about the use of alpha 2 agonists to improve core ADHD symptoms, but alpha-2-adrenergic agonists (i.e., guanfacine and clonidine) are frequently used in children under 5 year old with ADHD or hyperarousal, cases with poor response to a trial of stimulants, or selective norepinephrine reuptake inhibitors, have unacceptable side effects, or have significant co-occurring conditions (i.e., sleep issues). However, studies of alpha-2-agonists in ASD are limited and have small sample sizes. Guanfacine has been reported to be safe and effective in the treatment of hyperactivity and impulsiveness in children with ASD [ 52 , 53 ]. The most common side effects of guanfacine include sedation, constipation, irritability, and aggression. A small crossover study has also suggested positive effects of clonidine in ASD including decreased irritability, stereotypy, hyperactivity, inappropriate speech, and hyperarousal behaviors [ 54 ].

Data from randomized trials, systematic reviews, and meta-analyses show that atomoxetine and alpha-2-adrenergic agonists are more effective than placebo in reducing the core symptoms of ADHD, but as a class, they are less effective than stimulants [ 49 , 55 , 56 ]. Similarly, it is key to obtain objective targeted symptom measures at baseline and during treatment to objectively evaluate the response to treatment in different settings.

In a recent review of nine controlled trials of 430 children with ASD comparing the response between methylphenidate, atomoxetine, and guanfacine, methylphenidate and atomoxetine had superior effects than placebo in addressing ADHD symptoms; however, the response for hyperactivity symptoms was less than observed in neurotypical populations with both medications [ 57 ]. Worse treatment outcomes were associated with individuals with lower cognitive functioning.

Sleep issues are frequently reported in children with ASD potentially affecting their behavior, daily functioning, and family life. There is some evidence suggesting that low melatonin levels affect the circadian rhythm in autistic children [ 58 ]. In cases where behavioral and environmental sleep interventions have been implemented with limited response, clinicians may recommend the use of melatonin which is usually well tolerated and has a low incidence of side effects [ 59 ]. There is increasing evidence for the use of prolonged-release melatonin in autistic individuals with limited response to regular release formulations [ 60 ]. Melatonin is an over-the-counter product that is not regulated by the FDA. When parents/caregivers purchase melatonin, they should seek a formulation that contains melatonin as the only active ingredient.

N-acetylcysteine

N-acetylcysteine (NAC) is another antioxidant that can be purchased over the counter (OTC), and it can improve the imbalance of excitation: inhibition (E:I) that is seen in some forms of ASD [ 61 ]. NAC works by two mechanisms to lower the E:I imbalance; it lowers glutamatergic neurotransmission, and the cysteine leads to an increase in glutathione synthesis which is an important antioxidant. Cysteine is also oxidized to cystine, which further helps to reduce glutamatergic neurotransmission [ 62 ]. Hardan and colleagues carried out a controlled trial of escalating doses of NAC from 900 mg once a day for 4 weeks, increasing to bi-daily dosing for 4 weeks and then tri-daily dosing for the last 4 weeks compared to placebo. They randomized 33 subjects with ASD ages 3.2 to 10.7 years and after 12 weeks of treatment they found significant improvement on their primary outcome measure, irritability subscale on the ABC ( p < 0.001) for patients treated with NAC compared to placebo. Additional improvements were seen in stereotypic behaviors with significance reached on the RBS-S Stereotypies subscale ( p < 0.014) and the SRS Autism Mannerisms subscale ( p < 0.045) for those treated with NAC vs placebo [ 62 ]. NAC was well tolerated although an occasional patient did not like the taste or had minimal gastrointestinal side-effects.

Dietary Supplements

Sulforaphane is a naturally occurring isothiocyanate (found in broccoli and other cruciferous vegetables) [ 63 , 64 , 65 ]. Sulforaphane is an antioxidant, anti-inflammatory, and mitochondrial protective agent that has been studied in several animal models and humans with neurodegenerative and neurodevelopmental disorders [ 66 ]. Sulforaphane is a sulfur-rich dietary phytochemical which can penetrate the blood brain barrier, and it subsequently induces the nuclear factor erythroid 2 related factor 2 ( Nrf2 ) signaling cascade that stimulates the expression of more than 200 genes that are antioxidants and involved in detoxification and neuroprotection in the CNS [ 67 ]. The effect leads to reduction of superoxide and other reactive oxygen species (ROS), upregulation of the proteozome system to digest unfolded or misfolded proteins, enhancement of autophagy, inhibition of pro-inflammatory cytokines, protection from heme toxicity, and defense of neuronal cells from Aβ 42 -mediated cytotoxicity.

There have been a few studies in patients with ASD [ 68 , 69 ] including a controlled trial of young men ages 13 to 27 with moderate to severe ASD treated with sulforaphane ( n = 29) compared to placebo ( n = 15) for 18 weeks. Significant improvements were seen on the Aberrant Behavior Checklist (ABC), the Clinical Global Improvement Scale (CGI-I), and the Social Responsiveness Scale 2 (SRS) [ 69 ]. This positive trial lead to a more detailed study in children with ASD, a randomized controlled trial of sulforaphane lasting 15 weeks followed by an open label trial for another 15 weeks in 57 children ages 3 to 12 years [ 70 ]. Although the primary outcome measure, the Ohio Autism Clinical Impressions Scale, did not improve significantly in those on sulforaphane, a secondary measure, the ABC, did significantly improve on sulforaphane vs placebo but the SRS did not. In addition, there were significant improvements in the biomarkers including the glutathione redox status, mitochondrial respiration, inflammatory markers, and heat shock proteins on sulforaphane vs placebo, and these improvements correlated with improvements on the ABC. They utilized a commercial product of sulforaphane called Avmacol made by Nutrimax with a tablet dose of 2 to 8 tablets per day depending on the weight of the child (equivalent to 2.2 μmol/kg/day). There were no significant adverse events and the supplement was well tolerated.

Other antioxidants have been studied in ASD including omega-3 fatty acids [ 71 , 72 ] with mixed results, and these antioxidants promote glutathione recycling by facilitating the conversion of oxidized glutathione into reduced glutathione. A more recent study was carried out by Mazahery et al. [ 73 ] in 111 children with ASD ages 2.5 to 8 years, and they were randomized to placebo, Vitamin D 2000 IU/day, or omega-3 722 mg/day or both interventions for 1 year of treatment. Seventy-three patients completed a year of therapy, and those on both treatments had a significant reduction in their primary outcome measure, irritability on the ABC subscale ( p < 0.001) compared to placebo, and those treated with vitamin D alone also had a reduction in irritability also compared to placebo ( p < 0.45) [ 73 ]. These studies suggest that antioxidants may be a helpful ancillary treatment in some patients with ASD, although biomarkers of oxidative stress would be helpful to assess in further studies to better identify those who would benefit from this treatment.

Emerging Targeted Treatments with a Possible Role in ASD

Oxytocin (OXT) is a neuropeptide synthesized in the hypothalamus that plays a critical role in social functioning. Extant literature has shown that OXT enhances social processing in typically developing adults (enhanced eye contact, better emotion recognition in faces) immediately after its administration [ 74 ]. There have been generally positive results of OXT in adults with ASD, with trials showing improvements in repetitive behaviors, social reciprocity, and emotion recognition [ 75 , 76 , 77 ]. However, all these trials studied only short-term benefits (within a few weeks) of OXT administration. A recent randomised, placebo-controlled, double-blind study in adults with ASD showed improvements in self-reported repetitive behaviors and positive mood at 1 year post treatment after an initial 4 weeks of oxytocin treatment [ 78 ]. However, in this same study, there were no significant treatment benefits for social responsiveness with OXT [ 78 ]. Another recent study in young adults with ASD also did not demonstrate any immediate benefits of OXT on empathy and social perception [ 79 ].

Results of OXT studies in children have overall been more equivocal with mixed results. Although 4 studies showed positive short-term results of OXT administration on social responsiveness (following 4 or 5 weeks of OXT administration) [ 80 , 81 , 82 , 83 ], another 2 studies did not demonstrate any OXT specific improvements in social responsiveness or repetitive behavior in children with ASD [ 84 , 85 ]. A recent randomized controlled trial (RCT) however did not show any significant effects between the OXT and placebo group in aberrant behavior, social communication, or cognition [ 86 ]. At the neural networks level, it has been shown that intranasal OXT leads to increased activation in the brain regions known to be involved in perceiving and thinking about social-emotional information and enhances effective connectivity between nodes of the brain’s reward and socioemotional processing systems [ 87 , 88 ]. There were no noted side effects in these studies on children with ASD, thus far, although animal studies have raised the possibility of increased basal OXT levels with long-term OXT administration; the clinical effects of this being unclear. Of pertinence, there remains a lack of conclusive evidence for the long-term beneficial effects of OXT in addressing the core symptoms of autism [ 89 ]. Given that the vast majority of studies in children utilize parent-reported outcome measures of social and behavioral symptoms, inherent limitations of bias in reporting even in placebo-controlled trials are likely to come into play. Another important consideration is whether the gains that are seen with OXT administration in the experimental setting translate to real life and this is also unclear. The role of OXT thus far has been limited to its immediate effect after administration and hence is not a single treatment option for ASD. Nonetheless, as illustrated by a recent meta-analysis, there does seem to be overall beneficial effects of OXT on social symptoms of ASD, although this review included both children and adults [ 90 ]. There is also some promising research looking at the role of OXT in combination with other treatment modalities including behavior therapy and probiotics, with clinical trials in this area ongoing [ 91 , 92 ]. It is also likely that the effects of OXT in ASD are modulated by age, gender, and possibly genetic factors [ 77 , 79 , 90 ]. As such, although it holds much promise, the use of OXT in individuals with ASD is currently not a mainstream treatment.

Bumetanide is a well-established loop diuretic that works by inhibiting sodium–potassium-chloride co-transporters, namely, NKCC1 and NKCC2. Bumetanide has been purported as a potential treatment in autism due to its inherent chloride-related antagonist effects which is linked to GABA-ergic inhibition [ 93 ]. Bumetanide has been shown to reduce broad ASD symptomatology in children following a 3-month treatment course in 2 placebo-controlled randomized controlled trials [ 94 , 95 ]. Both of these trials used outcomes that are screening tools for ASD, namely, the SRS and the Childhood Autism Rating Scale (CARS). Another open-label trial of 6 children with severe ASD and intellectual disability showed parent-reported improvement in communicative abilities of all children after 3 months of bumetanide [ 96 ]. However, a recent double-blind, placebo-controlled, phase 2 superiority trial in children with ASD without severe intellectual disability did not show any treatment benefits on the core symptoms of ASD as measured on the SRS-2 [ 97 ]. It did show treatment benefits on the repetitive behavior scale, with no major adverse effects. Another study has suggested possible combined effects of bumetanide with ABA therapy in improving ASD symptoms on the CARS, although this was not a randomized controlled trial [ 98 ]. There are 2 phase 3 clinical studies ongoing now, which may shed further information on the potential benefits of bumetanide in ASD [ 99 ]. There is some functional-MRI-based evidence suggesting that bumetanide reduces the exaggerated amygdala activation to eye contact in individuals with ASD and contributes to increased eye-gaze time with biological stimuli and better emotional face perception [ 100 , 101 ]. Regardless, based on current literature, there is inconclusive evidence for the role of bumetanide in addressing the core symptoms of ASD [ 102 , 103 ].

Targeted treatments that reverse known neurobiological abnormalities in subgroups of ASD where there is also animal data to demonstrate benefit have emerged in the last decade for subgroups of ASD. The subgroup of ASD that is leading the way in targeted treatments is FXS, the most common single gene cause of ASD. In addition, post mortem studies have shown that FMRP, the protein that is missing or deficient in FXS, is also deficient in the brain in patients with idiopathic ASD without a fragile X mutation [ 104 , 105 ]. Therefore, FXS is a model for targeted treatments in other subtypes of ASD and treatments that work well in FXS may also be beneficial for other forms of ASD. So we will describe some of the targeted treatment studies with compounds that are available currently, although not FDA approved for FXS nor ASD.

Animal studies in FXS have demonstrated a hyperactive insulin receptor and up-regulation of the mammalian target of rapamycin complex 1 (mTORC1) and mitogen-activated protein kinase/extracellular signal-related kinases (MAPK/ERK) signaling pathways, as well as elevation of MMP-9 levels in the absence of FMRP, the protein produced by the FMR1 gene [ 106 , 107 , 108 ]. Metformin is a bi-guanide that is a primary treatment for type 2 diabetes, but it can also reduce the appetite in individuals with obesity. Therefore, studies of metformin were first carried out in patients with FXS who demonstrated obesity, often with the Prader-Willi-phenotype of FXS [ 109 ]. In a handful of patients with FXS treated clinically with metformin between the ages of 4 and 60 years old, there was improvement in overeating but also on the ABC subscales of irritability, aggression, and social avoidance [ 109 ]. Parents also stated that they saw improvement in the expressive language abilities in conversation. The potential language improvements are currently being studied in a controlled trial of metformin occurring over 3 sites, 2 in Canada (Edmonton and Montreal), and one site in the USA at the MIND Institute funded by the Azrieli Foundation (NCT03479476, NCT03862950). Patients ages 6 to 45 are recruited into a randomized controlled trial lasting 4 months with outcome measures including the Expressive Language Sampling as the primary outcome but also event related potentials, eye tracking, NIH toolbox, and other behavioral measures are assessed. The results will be available in 2022. Additional open label studies have been carried out with metformin including one in children ages 2 to 7 years old with FXS, and improvements were seen in behavior and development on the MSEL [ 110 ]. Individual case studies have shown that macroorchidism did not develop in boy who started metformin clinically before puberty [ 111 ] and two adults with FXS improved their IQ when using metformin for over one year [ 112 ].

Lovastatin is a commonly used statin that lowers cholesterol levels, but it does this by inhibiting 3-hydroxy-3methylglutaryl coenzyme A (3HMG-CoA) reductase, and it is FDA approved for lowering hypercholesterolemia or hyperlipidemia in children and adults. This action lowers the excessive protein production of the MEK-ERK pathway which are elevated in FXS. Studies of lovastatin treatment in the FXS knock out (KO) mouse rescued excess protein synthesis and also epilepsy [ 113 ]. These animal studies stimulated FXS patient trials. The one controlled trial included 32 children with FXS between 10 to 17 years treated in a RCT for 20 weeks with a dose of 10 to 40 mg a day as tolerated [ 114 ]. In addition, the patients all received Parent Implemented Language Intervention (PILI) [ 115 ] delivered by distance video teleconferencing over 12 weeks by a speech and language therapist with 4 sessions per week. Parents were taught a set of language facilitation techniques that were utilized with shared story telling sessions with their child. The main outcome measures were the number of utterances and new words utilized in addition to additional language scales, behavioral measures (ABC), and the CGI-I. So this study compared the combined effects of lovastatin plus PILI to PILI alone with placebo. Remarkably, there was significant improvements from baseline in both groups, but the outcomes were the same in both groups; that is, PILI alone had as much improvement as lovastatin plus PILI demonstrating the power of intensive language intervention [ 114 ].

Cannabidiol

Cannabidiol (CBD) is a phytocannabinoid found in Cannabis sativa , marijuana. Although there are hundreds of phytocannabinoids in marijuana, CBD is the second most common one after delta-9-tetrahydrocannabinol (THC) which has psychotropic properties. Marijuana has been used for 8000 years in India, China, and Middle East for fiber and medicinal properties; then introduced to Europe in early nineteenth century by Napoleon’s army returning from Egypt and then to Britain for medical use by a surgeon who served in India. CBD is the non-psychotropic component of marijuana, and there are numerous therapeutic effects of this drug including treatment of anxiety, pain, nausea, and motor deficits including the tremor in Parkinson’s disease [ 116 ]. CBD has both neuromodulatory and neuroprotective effects through a number of mechanisms including blocking neuroinflammation and potentiating anti-inflammatory pathways, improving mitochondrial function, GABA A agonist potentiation, stimulation of 5HT 1A receptors, and enhancing levels of anandamide (AEA) [ 116 , 117 , 118 , 119 ].

The endocannabinoid system has two receptors CB 1 found primarily in the CNS and CB 2 found throughout the body and the immune system. The primary endogenous ligands for CB 1 and CB 2 receptors are called endocannabinoids (ECs) and include anandamide AEA and 2-arachidonoylglycerol (2-AG). The ECs modulate synaptic transmission throughout the CNS, yielding widespread influence on cognition and behavior. The ECs are synthesized and released from post-synaptic membrane-bound phospholipids in response to neuronal signaling and act as retrograde signaling molecules across the synaptic cleft to stimulate CB 1 receptors on the presynaptic terminal, and they can inhibit neurotransmitter release from the presynaptic terminal. Enzymes that function in synthesizing 2-AG include phospholipase C and diacylglycerol lipase (DAGL).

CBD has also been shown to act as a positive allosteric modulator at GABA A receptors, and controlled trials have shown that CBD in the form of Epidiolex is an effective anticonvulsant in Dravet syndrome and Lennox-Gastaut syndrome [ 120 ]. CBD’s ability to enhance endocannabinoid levels and facilitate GABAergic transmission may serve to improve the balance in inhibitory and excitatory transmission and help restore neuronal function and synaptic plasticity in patients with ASD and FXS even when there is no epilepsy. Animal models of both FXS and ASD have shown benefits when treated with CBD [ 121 , 122 ]. Studies of individuals with ASD treated with CBD and open label trials of CBD are reviewed by Nezgovorva et al. [ 123 ]; however, the preparations studied have both CBD and variable levels of THC, although in general, benefits were seen in irritability, sleep disorders, tantrums, and anxiety. Currently, studies of cannabidavarin (CBDV) are taking place in ASD and CBDV has also been helpful in animal models of ASD [ 123 ].

Recently, the development of a topical CBD that is manufactured so that there is no THC has facilitated studies in both ASD and in FXS. The BRIGHT study was an open label study of children ages 3 to 17 with ASD lasting 14 weeks, and benefits were seen in most outcome measures including the ABC and measures of anxiety [ 124 ]. Currently, a controlled trial of this topical CBD called Zyn002 is taking place in children with ASD. Another recent randomized controlled trial (RCT) looking at an oral preparation of CBD in children and young adults with ASD demonstrated positive improvements in behavior and social communication with CBD [ 125 ].

Huessler et al. [ 126 ] carried out an open label trial of Zyn002 in Australia for children with FXS of ages 3–17 years old with doses of the transdermal CBD at doses 250 mg bi-daily for 12 weeks (ACTRN12617000150347). Both the primary outcome, the Anxiety Mood and Depression (ADAMS) scale and the secondary measures including the ABC, demonstrated efficacy. Subsequently, a multicenter controlled trial of over 200 children with FXS was carried out and efficacy was seen in only those children with > 90% methylation with FXS on the primary outcome measure of the Social Avoidance subscale of the ABC FX , a scale that has been developed for FXS modified from the ABC (Berry-Kravis et al. 2022 under review Sci Trans Medicine). Currently, the FDA has not approved Zyn002 for general use, but an additional multicenter controlled trial is now taking place to win this approval. It is very likely that the current controlled trials taking place for ASD and FXS will show efficacy for subgroups for both disorders, and subsequently, CBD will be more broadly utilized.

Arbaclofen, also called STX209, is a selective ɣ-aminobutyric acid type B receptor agonist that is the R-enantiomer of racemic baclofen. For many subtypes of ASD, there is a GABA B deficit and arbaclofen has rescued the behavioral deficits including social deficits in the mouse models of idiopathic ASD [ 127 ], deletion of 16p11.2 [ 128 ], and FXS [ 129 ]. There are 3 pathways that are improved with arbaclofen: Stimulation of presynaptic GABA B receptors inhibits glutamate release thereby lowering the mGluR5 pathway. Stimulation of GABA receptors also improves inhibition that is down-regulated in many forms of ASD and arbaclofen also enhances K channel activation which can also be down-regulated in many forms of ASD [ 130 ]. The promising mouse studies led to human trials in FXS [ 131 ] that initially showed improvements in those with ASD plus FXS leading to phase 3 trials in FXS [ 132 ]. However, the adult studies of FXS did not demonstrate efficacy and the pediatric trials did not reach significance for the primary outcome measure, but did show limited improvements in secondary measures including the Parenting Stress Index because of lowered irritability in the children [ 132 ].

Both open label studies in idiopathic ASD and in those with a 16p11.2 deletion have been carried out with positive behavioral benefits. A controlled trial with idiopathic ASD has also been started but not yet reported. Arbaclofen has been well tolerated even at higher doses up to 15 mg tri-daily so it is likely that further studies will be carried out both in ASD and in subtypes of ASD including FXS.

Trofinetide

Insulin like growth factor 1 (IGF1) is considered an emerging treatment for ASD in animal and cellular models in ASD [ 133 , 134 , 135 , 136 ]. Trofinetide is an analogue of the amino-terminal tripeptide of IGF1, and it has been studied in patient groups of ASD subtypes. Trofinetide is glycyl-L-2-methylprolyl-L-glutamic acid, and it was studied in a controlled phase 2 trial in 82 children with Rett syndrome ages 5 to 15 years, and significant benefit was found in the high-dose group (200 mg/kg/day) compared to placebo [ 137 ]. Significant benefits were seen in several measures including the Rett Syndrome Behavior Scale, the Rett Syndrome Clinician Rating Scale, and a visual analogue scale. This report led to a multicenter phase 3 controlled trial in Rett syndrome which is ongoing currently.

Trofinetide has also been studied in a 28-day controlled trial in adolescent and adult patients with FXS [ 138 ]. Patients were randomized to trofinetide 35 mg/kg/day, 70 mg/kg/day, or placebo. Results demonstrated that the 70 mg/kg/day was significantly beneficial compared to placebo with a permutation test utilizing the primary components of the Fragile X Syndrome Rating Scale, a Fragile X Specific Domain Scale on a visual analogue format, and the ABC FX.

In the fragile X knockout (KO), mouse studies trofinetide had several positive effects at a dose of 100 mg/kg/day yielding insight as to why it is beneficial in FXS [ 139 ]. The KO mouse was deficient in IGF1 in the brain, and this was normalized with trofinetide treatment for 28 days. Improvements in dendritic spine abnormalities, astrogliosis, neuroinflammation, glial activation, and downregulation of the MEK-ERK and PI3K-mTOR pathways were seen with trofinetide treatment leading to improvements in behavior and morphology of FXS [ 139 ]. Clearly, trofinetide is a treatment that improves multiple pathways that are dysregulated in more than one subtype of ASD and further studies at optimal doses will be carried out and some are currently taking place.

Phosphordiasterase 4D Inhibitors

It has been known for many years that cAMP, an important energy compound for improving synaptic connections, is down regulated in FXS [ 140 ]. Recent animal studies have shown that an inhibitor of cAMP breakdown called a phosphordiasterase 4DE inhibitor can rescue features of FXS in the KO mouse model and Drosophila model and can raise the cAMP levels to normal [ 141 , 142 ]. These studies led to patient trials of a PDE4D inhibitor called BPN14770, and an exciting study was recently published, a randomized controlled trial in 30 adult males with FXS that demonstrated improvements not only in behavior but also in the primary outcome measure, the NIH toolbox, and secondary measures after only 12 weeks of treatment [ 143 ]. This is the first treatment of FXS that demonstrated improvements in cognition, specifically in Oral Reading Recognition, Picture Vocabulary and Cognition Crystallized Composite Score in the NIH toolbox that has been modified for use in those with ID. The caregivers also used the Visual Analog Caregiver Rating Scales and demonstrated improvement in language and daily functioning. Families are excited that this is the first of hopefully many new medications that can reverse cognitive deficits and further controlled trials are in the planning stages.

Anavex 2–73

Anavex 2–73 (AV 2–73; Blarcamesine) is a sigma 1 receptor agonist that works between the endoplasmic reticulum and the mitochondrial membrane to normalize calcium dysregulation, oxidative stress, and mitochondrial dysfunction which is seen in many forms of ASD. It has demonstrated significant benefits in the KO mouse model of FXS where multiple behaviors were improved and deficient brain derived neurotropic factor (BDNF) levels were normalized [ 144 ]. In addition, Kaufman et al. [ 145 ] also reported significant benefits in the Rett syndrome mouse model with a rescue of behavior and BDNF levels and this work lead to patient studies in Rett syndrome that have demonstrated efficacy in a controlled trial (Anavex Life Sciences press release 2021). AV2-73 also has beneficial effects in neurodegenerative disorders because of improvement in proteostasis, autophagy, oxidative stress, prevention of protein aggregates, and improvement in mitochondrial function leading to benefits in Alzheimer’ disease and Parkinson’s disease dementia [ 146 , 147 , 148 ]. Significant potential exists for AV2-73 to improve symptoms in Fragile X-associated Tremor Ataxia (FXTAS), a neurodegenerative disease seen in approximately 40% of older carriers of the fragile X premutation, because calcium dysregulation, mitochondrial dysfunction, proteostasis, and aggregations of proteins causing inclusions occur in FXTAS [ 149 ].

Gene Therapy

Although this therapy is not available for clinicians to utilize in their patients, exciting research studies particularly after the advances in CRISPR/Cas9 technology have become available. The possibility of introducing a normal gene or protein into the CNS to treat ASD or other neurodevelopmental disorders where the mutation is known is exciting. Another example of gene therapy is the introduction of antisense oligonucleotides (ASOs) to silence RNA or gene products that are deleterious. In Angelman syndrome, where the maternal copy of UBE3A is mutated or absent, ASOs have been utilized to activate the paternal copy of UBE3A in the CNS to compensate for the missing maternal copy. Recently, a controlled trial of GTX-102, an ASO, was tried in 5 individuals with Angelman syndrome ages 5 to 15 years old. The protocol involved the intrathecal injection of GTX-102 at increasing doses once monthly for 4 months. However, an adverse effect of leg weakness was seen at the higher doses leading to an inability to walk in two patients. This was found to be related to inflammation at the level where the LP was carried out so these patients were treated with anti-inflammatories with resolution of this side effect. The future is bright for further gene therapy interventions in ASD and other neurodevelopmental disorders.

The current evidence-based management of ASD in children relies primarily on behavioral interventions to address the core symptoms of the condition. The role of pharmacological treatments currently is primarily to address co-morbid conditions associated with ASD and increases with age. These medications including anti-psychotic agents and stimulant medications are important in the clinical management of patients with ASD. However, the emergence of targeted treatments for subgroups of ASD where the genes responsible for the ASD are known and the neurobiology and potential targeted treatments have been studied to reverse the neurobiological abnormalities at least in the animal models has led to several recent achievements in patients as described here. Of note is that there are commonalities among disorders causing ASD that suggest that a targeted treatment for one disorder will be beneficial for other disorders. For instance, GABA deficits are seen in many forms of ASD and medications that are agonists for the GABA system such as CBD are likely to be helpful for many subtypes of ASD as described above. Mitochondrial dysfunction is associated with many forms of ASD, so medications that will improve mitochondrial dysfunction are likely to be helpful for many subtypes of ASD [ 150 ]. The promise of gene therapy is becoming a reality for many disorders such as Duchene Muscular Dystrophy, Spinal Muscular Atrophy, and even Angelman Syndrome because of CRISPR/Cas 9 technology so in the next few years, many additional forms of ASD will be treated with gene therapy. Until then, some of the treatments outlined here can be tried and more will become available in the near future.

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This research was supported by grants from the Azrieli Foundation, clinical trial funding to the MIND Institute from Zynerba for the CBD study, and the MIND Institute Intellectual and Developmental Disabilities Research Center P50 HD103526.

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A Potential Cure for Autism: New Research Finds That Gene Therapy Could Treat Pitt-Hopkins Syndrome

By University of North Carolina Health Care June 4, 2022

A new study has shown that gene therapy may be able to prevent or reverse many deleterious effects of Pitt-Hopkins syndrome

New research from the UNC Neuroscience Center lab of Ben Philpot, Ph.D., finds restoring lost gene activity prevents many disease signs in an animal model of Pitt-Hopkins syndrome, a rare, single-gene neurodevelopmental condition.

Pitt-Hopkins syndrome is a rare genetic condition caused by a mutation in the TCF4 gene on chromosome 18. Pitt-Hopkins syndrome is characterized by developmental delay, potential respiratory concerns such as episodic hyperventilation and/or breath-holding while awake, recurrent seizures/epilepsy, gastrointestinal difficulties, a lack of speech, and distinctive facial features. Children diagnosed with Pitt-Hopkins syndrome often have a happy and lively attitude with frequent smiling and laughing.

The prevalence of Pitt-Hopkins syndrome in the general population is unclear. However, some estimates place the frequency of Pitt-Hopkins syndrome between 1 in 34,000 and 1 in 41,000. The disorder affects both men and women and is not restricted to a single ethnic group.

Pitt Hopkins syndrome is classified as an Autism Spectrum Disorder, and some people who have it have been diagnosed with Autism, ‘atypical’ autistic characteristics, and/or Sensory Integration Dysfunction. Many researchers believe that treating Pitt Hopkins syndrome will lead to treatments for similar disorders because of its genetic link to autism and other conditions.

For the first time, researchers at the University of North Carolina School of Medicine have shown that postnatal gene therapy may be able to prevent or reverse many of the negative effects of Pitt-Hopkins syndrome, a rare genetic disorder. Severe developmental delay, intellectual disability, respiratory and movement abnormalities, anxiety, epilepsy, and moderate but distinctive facial abnormalities are all symptoms of this autism spectrum disorder .

The scientists, who published their findings in the journal eLife , created an experimental, gene-therapy-like technique to restore the normal function of the gene-deficient in people with Pitt-Hopkins syndrome. The medication prevented the onset of disease indicators such as anxiety-like behavior, memory impairments, and abnormal gene expression patterns in afflicted brain cells in newborn mice that would otherwise model the syndrome.

“This first, proof-of-principle demonstration suggests that restoring normal levels of the Pitt-Hopkins syndrome gene is a viable therapy for Pitt-Hopkins syndrome, which otherwise has no specific treatment,” said senior author Ben Philpot, Ph.D., Kenan Distinguished Professor of Cell Biology and Physiology at the UNC School of Medicine and associate director of the University of North Carolina (UNC) Neuroscience Center.

Brain section image: protein Cre (green) delivered to cells as gene therapy via AAV. Credit: Philpot Lab (UNC School of Medicine)

Most genes are inherited in pairs, one copy from the mother and one from the father. Pitt-Hopkins syndrome arises in a child when one copy of the gene TCF4 is missing or mutated, resulting in an insufficient level of TCF4 protein. Typically, this deletion or mutation occurs spontaneously in the parental egg or sperm cell prior to conception, or in the earliest stages of embryonic life following conception.

Only about 500 cases of the syndrome have been reported worldwide since it was first described by Australian researchers in 1978. But no one knows the syndrome’s true prevalence; some estimates suggest that there could be more than 10,000 cases in the United States alone.

Since TCF4 is a “transcription factor” gene, a master switch that controls the activities of at least hundreds of other genes, its disruption from the start of development leads to numerous developmental abnormalities. In principle, preventing those abnormalities by restoring normal TCF4 expression as early as possible is the best treatment strategy – but it hasn’t yet been tested.

Philpot’s team, led by first author Hyojin (Sally) Kim, Ph.D., a graduate student in the Philpot lab during the study, developed a mouse model of Pitt-Hopkins syndrome in which the level of the mouse version of TCF4 could be reliably halved. This mouse model showed many typical signs of the disorder. Restoring the full activity of the gene from the start of embryonic life fully prevented these signs. The researchers also found evidence in these initial experiments that gene activity needed to be restored in essentially all types of neurons to prevent the emergence of Pitt-Hopkins signs.

Next, the researchers set up a proof-of-concept experiment modeling a real-world gene therapy strategy. In engineered mice in which roughly half the expression of the mouse version of Tcf4 was switched off, the researchers used a virus -delivered enzyme to switch the missing expression back on again in neurons, just after the mice were born. Analyses of the brains showed this restoration of activity over the next several weeks.

Even though the treated mice had moderately smaller brains and bodies compared to normal mice, they did not develop many of the abnormal behaviors seen in untreated Pitt-Hopkins model mice. The exception was innate nest-building behavior, in which the treated mice seemed abnormal at first, although their abilities were restored to normal within a few weeks.

The treatment at least partly reversed two other abnormalities seen in untreated mice: altered levels of the genes regulated by TCF4 and altered patterns of neuronal activity as measured in electroencephalograph (EEG) recordings.

“These findings offer hope that a future gene therapy will provide significant benefits to individuals with Pitt-Hopkins syndrome even when delivered postnatally; it won’t require diagnosis and treatment in utero,” Kim said.

Philpot and his lab now plan to explore the effectiveness of their strategy when applied to Pitt-Hopkins mice at later stages of life. They also plan to develop an experimental gene therapy in which the human TCF4 gene itself will be delivered by a virus into a Pitt-Hopkins mouse model – a therapy that ultimately could be tested in children with Pitt-Hopkins syndrome.

“We’ll be working on a gene therapy, but our results here suggest that there are other TCF4-restoring approaches that could work, including treatments that boost the activity of the remaining, good TCF4 copy,” Philpot said.

The research was supported by the Ann D. Bornstein Grant from the Pitt-Hopkins Research Foundation, the National Institute of Neurological Disorders and Stroke (R01NS114086), the Estonian Research Council, and the Orphan Disease Center at the Perelman School of Medicine at the University of Pennsylvania (MDBR-21-105-Pitt Hopkins).

Reference: “Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression” by Hyojin Kim, Eric B Gao, Adam Draper, Noah C Berens, Hanna Vihma, Xinyuan Zhang, Alexandra Higashi-Howard, Kimberly D Ritola, Jeremy M Simon, Andrew J Kennedy and Benjamin D Philpot, 10 May 2022, eLife . DOI: 10.7554/eLife.72290

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28 comments on "a potential cure for autism: new research finds that gene therapy could treat pitt-hopkins syndrome".

The cure to autism is food. Remove msg from the diet which resides in 80% of our foods like gluten and casein products. Watch unblind my mind from catherine reid on youtube. Her talk changed my life for the better.

Yes, Less MSG. That will certainly reverse proven differences in DNA. If I remove MSG form my diet will I just start being “normal”? Do you have ANY studies to prove this? Can you explain to me why this happens? No. No you cannot.

I am really, really tired of seeing studies about “curing” autism. Autism is not a disease or a disorder. It is simply neurodivergency, a different neurotypy, a natural variation within human neurology. As someone who is neurodivergent (both autism and ADHD), I neither want nor need to be “cured”. To suggest that people like me should be “cured” is straight-up eugenics and ableism. And it’s really, really not a good look.

It’s not genocide. Learn goldwins law. There may be exceptions to the Goldwins law, but curing disabilities isn’t one of them.

Godwin himself said Godwin’s law is dead, and that we are facing actual Nazis, so your point is moot.

Stop making autists look bad

Lol! I wouldn’t want to change my son at all! He was born with autism,the problem is NOT with Autism.The problem is with the “slow-moving evolution” of humans who think that Autism is a “problem”.Autism,ADHD,ADD, Dyslexia, Dyscalculia, Dysgraphia etc. IS evolution in the happening Now!

Some people with autism are lucky to have a mild condition and being highly functional in our society. But, how about those people with severe conditions that needs to have a quality of life? Think about it. If you don’t want your son to be treated, then, that is fine. It’s your choice.

Shove off bot NPC! You only want to payoff your debt slavery considering that woke schools lecture you to oppose actual research! And don’t double post. https://www.youtube.com/watch?v=JOMYsOGei08&t=1s

Food is not a cure for autism. Welcome to the research over the past 20+ years

Actually sick. We need to spend less time searching for a cure and more time implementing accommodations for disabled people, which is actually feasible! Autistic people don’t want to stop being autistic they want to be able to live as they are.

This article is not titled correctly. The subtitle about Pitt-Hopkins Syndrome should be the actual title. There are so few cases of the syndrome they are still figuring out how to classify it. It may resemble autism, but that doesn’t make them the same. Many people with autism function quite well. SciTech daily editors need to fix that title.

I’m really sickened by your article’s title that suggests we need to “cure” autism. It’s like saying we need to “cure” short people, or people with brown eyes. It’s not a disease or a problem that needs to be “solved”, it’s just a way that people are. To imply that it’s something harmful and detrimental to people’s lives is disgusting. Your article itself says that children with this particular syndrome have a happy and playful disposition – why on earth would you want to change that?

Short people still function properly. The autistic brain cannot interpret social signals. Most mass shootings are committed by autistic men. I would say there is something wrong with how their brain is operating.

Hello, someone with autism here. Your comment is unbelievably ableist. It is always the able that claim there is something wrong with metal disabilities. It’s always the able to want a cure for a disability they don’t have. Of course there is some autistic people claiming the same here, but they are mainly people that have been mentally brainwashed and beaten down by the able bodied to believe it. Because society cannot accept people who are different. For the school shooting part, as far as I know, that is a stereotype. And even if it was true, it does not mean all autistic people are violent. For someone who acts smart, you seem to hold on to backwards and primitive stereotypes and ideas. Autism isn’t as terrible as propaganda from Autism Speaks or Next for Autism would tell you. Without my disability, I wouldn’t be me. I wouldn’t get my inspiration from the most unexpected places. I wouldn’t be as funny, creative, sharp, or have any of the ideas I would create. I am proud to be autistic. And seeing ableists like you labeling us as “flawed”, “ill”, “wrong”, or “lesser”, is pretty sad and pathetic to see. And it makes sense, because you’re not capable of perspective.

We need a cure. You don’t have to take it. My daughter needs a cure. Please speak for yourself.

Autism is not a disease, and us people who are on the spectrum are perplexed why you would want to try to change us. Our brains are wired differently, and if it wasn’t for this difference then humankind would no longer progress in evolution, due to everyone having the same type of brain. Society needs to begin to understand that many high functioning individuals have talents which may contribute to society that cannot be found in a neurotypical mindset. Perhaps learning how to communicate with people who are different, rather than change them to be more like the majority of the population, is the solution?

The thing is, most people suck. People are cruel and hate different. It is a sad truth.

My son is autistic with ADHD. Autism puts a tremendous stress on his relationships and frequently leaves him feeling isolated. I would use a safe treatment for him in a heartbeat. Talk of discrimination and ableism is utter nonsense. That sort of politically correct foolishness makes as much sense as the body positivity movement shaming people for losing weight and going to the gym.

I have Asperger’s Syndrome. I have challegens but I also have many gifts. I write good poetry, fanfiction and even fiction with my own characters. I am good at Christian web witnessing and know 10 different proofs that God exists. I make my own websites and I spend a lot of time answering questions on Quroa. Please don’t change me. I want to continue to be me.

agree with you completely. I have a severely disabled 20 year old daughter with autism. She’s beautiful, happy, has a wonderful laugh and smile. We take her everywhere with us. But she will never be able to live independently, will never fall in love, get married or have a family of her own. She can’t dial 911 in an emergency or be left home (or anywhere) alone. I would take a cure in a minute. Completely disagree with these people who believe the rest of the world is the problem. And if you have autism and are highly functioning enough to comment on this article, that’s wonderful. My daughter and others with IQs of 40 don’t have that luxury.

I agree with you! I’ve always known that my daughter was somewhere on the Autism Spectrum, but after recently hearing about this Pitt- Hopkins Syndrome, I am truly thinking that she may have this. She has bouts of self-injurious behavior as well as severe social issues. I would do almost anything to have a treatment for her.

As an autistic person who wants to be cured, this gives me so much hope!

Reading so many bots in the comes by woksters who merely say what bought and paid for schools tell them to, I’m actually glad to see and article that isn’t written by a gender studies advocate that only writes articles for ad revenue. I can’t stand when “Neurodiversity” groups claim that they speak for people with autism when people like me say otherwise. I don’t need to tell you that people who write articles expressing the opposite of ACTUAL science are nothing more than talking heads without their own opinion. Mind you I have mild autism and I want to leave the spectrum.

To the autistic world who are saying they want to stay autistic that is fine. I am happy you are happy with it. I have a 7 year old son who doesn’t speak can not sit still for a minute gets angry because he can not communicate. I don’t think he is happy about that. So my point is we need a cure or better treatment for autism and if some people want to remain autistic that is their choice but to speak for everyone and say they all are happy with there outcome in life is ridiculous. There is a reason why it’s called the “spectrum” there is a difference in severity in person to person.

I am a 25 year old high functioning autistic and let me say both of you are wrong even if it is evolution we can’t prove it’s in the right direction just like we cannot actually say that autism is a “detriment to society” as each and every one of us is different each are unique and each has our own problems caused by it take me for example I don’t JUST have autism I have schizophrenic disorder I have a iq of 169 and I have depression. You all need to understand it isn’t just the disorder that causes issues it’s also how society and those we care about how makes it difficult… I grew up with my mom and by the time I was 10 I knew I was wrong but no body told me “hey you have autism” or” hey it’s not your fault” no instead they merely laughed and called me stupid as I said some of us don’t need cures we need a helping hand and not all of us need a helping hand but instead we need a cure or even just something to help us focused…but it’s up to us to decide

Some people have severe cases. I stay up at not worrying what will happen to my son when im gone.

News Center

Northwestern investigators develop new therapy for autism subtype.

A team of Northwestern investigators led by Peter Penzes, PhD , the Ruth and Evelyn Dunbar Professor of Psychiatry and Behavioral Sciences and director of the Center for Autism and Neurodevelopment , has developed a new therapy that could treat Phelan-McDermid syndrome, a subtype of autism spectrum disorder (ASD), according to findings published in Molecular Psychiatry .

According to the Centers for Disease Control and Prevention, one in 44 children in the U.S. have been diagnosed with ASD and each patient presents diverse clinical and developmental symptoms, which may include delayed speech, motor skills and learning skills, epilepsy, poor eating and sleeping habits, and gastrointestinal issues.

Phelan-McDermid syndrome is known to be caused by a specific genetic mutation in SHANK3, a well-known ASD candidate gene. Due to the heterogeneity of ASD, the development of effective targeted therapies has been extremely challenging, leaving patients with treatment options that improve disease management.

Based on the urgent need for new therapies, Penzes’ team developed a derivative of an insulin-like growth factor-binding protein, IGFBP2, which is found in structures of the brain affected in ASD and has been shown to improve neuroplasticity and cognitive functions.

In the current study, the investigators administered the IGFBP2-derived peptide, called JB2, to mice with SHANK3 mutations. Through advanced brain imaging, they found that the drug improved neuroplasticity, behavior impairments and cellular processes in the mices’ brains.

These changes were directly correlated with improvements in the mices’ learning and memory skills, motor function and communication through ultrasonic vocalizations, findings that could be translated to social behaviors in humans, according to Penzes.

“In patients with autism, speech doesn’t develop at all, or it develops very late, or it’s very simplified, so these ultrasonic vocalizations in mice are thought to somehow model that in mice,” said Penzes, who is also professor of Neuroscience and of  Pharmacology .

Using electroencephalography to measure the mice’s brain activity, the team also discovered that JB2 normalized neuronal excitability, or how neurons respond to stimuli with an electric charge, and seizure susceptibility.

While the drug is still in early stages, Penzes said, theoretically, routinely administering the drug into patients’ bloodstreams while they are young either through regular injections or in pill form would be ideal.

“Because this is a neurodevelopmental condition, the brain still changes after birth, even into adulthood. The earlier one could intervene, the better. So, it would be preferable to start it as a pediatric medication, but those are more difficult to get approval for,” Penzes said.

Penzes noted that initial clinical trials would involve participants with Phelan-McDermid syndrome and if successful, could eventually expand to include patients with other types of ASD.

“The assumption is that similar changes are happening in the brains of patients with other types of autism and in Phelan-McDermid syndrome, but these patients would have a better response,” Penzes said.

Co-authors of the study include Sehyoun Yoon, PhD , research assistant professor of Neuroscience, Jeffrey Burgdorf, PhD, adjunct professor of Biomedical Engineering at the McCormick School of Engineering, Marc Dos Santos, PhD, a postdoctoral fellow in the Penzes laboratory, and Joseph Moskal, PhD, professor of Biomedical Engineering at the McCormick School of Engineering.

This work, part of ongoing efforts by the Center for Autism and Neurodevelopment to develop new therapies, was supported by National Institute of Mental Health grant R41MH121140.

New mechanisms underlying tumor variety in brain cancers discovered, novel genetic mechanisms may serve as therapeutic target against glioma, genetic variation linked to increased risk of pick’s disease.

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Autism spectrum disorders are a group of neurodevelopmental disorders that are characterized by impaired social interaction and communication skills, and are often accompanied by other behavioural symptoms such as repetitive or stereotyped behaviour and abnormal sensory processing. Individual symptoms and cognitive functioning vary across the autism spectrum disorders.

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The Latest Evidence on Autism Diagnoses and Treatment

A new report summarizes the latest research and treatment strategies..

Posted January 15, 2020 | Reviewed by Gary Drevitch

What Is Autism?
Find a therapist to help with autism

The medical conditions we now call “ autism spectrum disorders” were first identified and labeled in the late 1930s. This group of disorders result in communication difficulties, repetitive behaviors, sensory issues, and problems with social interaction. The medical community’s understanding of these disorders and the best ways to treat them is constantly evolving.

Last month, the American Academy of Pediatrics published a new clinical report on autism spectrum disorders that summarizes the body of evidence that has developed over the past 12 years.

The first notable fact in the report is that autism rates continue to rise: About one in every 59 children in the U.S. is diagnosed with an autism spectrum disorder, up from one in 88 children just eight years ago.

The report also offers updated guidelines about the best ways to diagnose autism spectrum disorders in children. Although autism disorders are neurological diseases, looking for certain behaviors in young children is often the best way to make an initial diagnosis. Children with autism spectrum disorders often have a hard time understanding the intent of another person, are less likely to make eye contact with others, and typically don’t engage in pretend play in the same ways as other children. They may have difficulty processing gestures and language.

About a quarter of children with autism experience a regression in language or social skills – that is, they lose abilities they once had learned – when they are between 18 and 24 months old, according to the report. Researchers don’t understand why this occurs.

These early warning signs are extremely important, the authors write, because there is clear evidence that beginning treatment early – even if a diagnosis is expected, but not confirmed – leads to better outcomes. As a result, the report recommends routine autism screening for all children in their pediatric well visits.

Some of the most effective interventions, the report finds, address specific autism behaviors and identifies triggers for them.

Behavioral interventions are “very, very important,” co-author Susan Levy said. The most intense intervention is Applied Behavioral Analysis (A.B.A.), a program that addresses specific behaviors, identifying triggers and antecedents and responding with rewards when a child behaves in the desired way. Data show interventions that teach both children and their families effective communication strategies are also effective. The evidence also indicates that diets that eliminate gluten or casein do not have a significant effect on symptoms or behaviors.

Additionally, the report underscores the importance of paying attention to medical conditions that often occur with autism spectrum disorders but can be treated separately, such as attention deficit hyperactivity disorder , intellectual disabilities, sleep problems, seizures, and anxiety . The evidence shows that when caregivers and medical professionals can address these other problems, it can improve children’s overall ability to function and quality of life.

Lastly, the report details how planning for adolescence and the transition to adulthood is important for people with autism spectrum disorders. Finding medical and behavioral health services, job skills development, community leisure opportunities, and residential supports can make an important difference in the lives of people with autism and their families.

The take-home message: The medical community is learning more about autism and how to best diagnose, treat, and support people with autism spectrum disorders.

Visit Cornell University’s Bronfenbrenner Center for Translational Research’s website for more information on our work solving human problems.

The Bronfenbrenner Center for Translational Research at Cornell University is focused on using research findings to improve health and well-being of people at all stages of life.

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New Autism Study Reveals 'Tantalizing Clues' About Its Development

S cientists have made a breakthrough in our understanding of the neuroscience behind autism spectrum disorders that promises to "revolutionize" the way we approach treatment, scientists say. The discovery revolves around an important chemical messenger that we tend to associate with pleasure and reward: dopamine.

Autism spectrum disorders are a diverse group of conditions characterized by some degree of difficulty with social interaction and communication. They affect roughly 1 in 100 children worldwide, according to data from the World Health Organization.

There are many potential causes of autism spectrum disorders, and both environmental and genetic factors are thought to play a role. A lot of questions still exist about the biochemical mechanisms that underlie these conditions, but recent evidence suggests that dopamine, the famous "feel-good" hormone, might play a role.

"While dopamine is commonly recognized as a neurotransmitter, its significance in the developmental aspects of autism is largely unexplored," said lead investigators Lingyan Xing and Gang Chen of China's Nantong University in a statement.

"Recent studies have highlighted the crucial roles of dopamine and serotonin in [neurotypical brain] development and their importance in the construction of neural circuits," they continued. "In addition, studies have indicated that the use of dopamine-related drugs during pregnancy is associated with an increased risk of autism in children.

"Armed with these tantalizing clues, we embarked on a mission to bridge the gap between dopamine's known functions and its potential impact on neurodevelopmental disorders, particularly autism," Lingyan and Gang said.

In a study published in The American Journal of Pathology , Lingyan, Gang and their colleagues investigated the role of dopamine signaling in autism development. "Our quest was to uncover a novel therapeutic target that could revolutionize the way we approach autism treatment," Lingyan and Gang said.

The study consisted of two parts. The first involved analyzing changes in gene expression in the brains of people with autism. The second used zebra fish models to explore how perturbations in dopamine signaling could produce autism-like behaviors.

In the first part of the study, the team found that patients with autism showed changes in the expression of genes involved in dopamine-signaling pathways and brain development. The authors say this indicated a potential link between dopamine disruption and autism development.

To explore this link further, the team re-created these disrupted dopamine pathways in the brains of zebra fish larvae and found that the larvae with signal disruption developed brain circuit abnormalities and behaviors reminiscent of human autism.

"We were surprised by the extent of the impact that dopaminergic signaling has on neuronal specification in zebrafish, potentially laying the groundwork for circuit disruption in autism-related phenotype," Gang wrote.

Lingyan added: "This research sheds light on the role of dopamine in neural circuit formation during early development, specifically in the context of autism. Understanding these mechanisms could lead to novel therapeutic interventions targeting dopaminergic signaling pathways to improve outcomes in individuals with autism and other neurodevelopmental disorders."

Do you have a tip on a health story that Newsweek should be covering? Do you have a question about autism? Let us know via [email protected].

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Photo of a child with autism at an appointment with a pediatric specialist. Autism may be linked to disruptions in dopamine signalling, scientists say.

Patient Care & Health Information
Diseases & Conditions
Autism spectrum disorder

Your child's doctor will look for signs of developmental delays at regular checkups. If your child shows any symptoms of autism spectrum disorder, you'll likely be referred to a specialist who treats children with autism spectrum disorder, such as a child psychiatrist or psychologist, pediatric neurologist, or developmental pediatrician, for an evaluation.

Because autism spectrum disorder varies widely in symptoms and severity, making a diagnosis may be difficult. There isn't a specific medical test to determine the disorder. Instead, a specialist may:

Observe your child and ask how your child's social interactions, communication skills and behavior have developed and changed over time
Give your child tests covering hearing, speech, language, developmental level, and social and behavioral issues
Present structured social and communication interactions to your child and score the performance
Use the criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), published by the American Psychiatric Association
Include other specialists in determining a diagnosis
Recommend genetic testing to identify whether your child has a genetic disorder such as Rett syndrome or fragile X syndrome

No cure exists for autism spectrum disorder, and there is no one-size-fits-all treatment. The goal of treatment is to maximize your child's ability to function by reducing autism spectrum disorder symptoms and supporting development and learning. Early intervention during the preschool years can help your child learn critical social, communication, functional and behavioral skills.

The range of home-based and school-based treatments and interventions for autism spectrum disorder can be overwhelming, and your child's needs may change over time. Your health care provider can recommend options and help identify resources in your area.

If your child is diagnosed with autism spectrum disorder, talk to experts about creating a treatment strategy and build a team of professionals to meet your child's needs.

Treatment options may include:

Behavior and communication therapies. Many programs address the range of social, language and behavioral difficulties associated with autism spectrum disorder. Some programs focus on reducing problem behaviors and teaching new skills. Other programs focus on teaching children how to act in social situations or communicate better with others. Applied behavior analysis (ABA) can help children learn new skills and generalize these skills to multiple situations through a reward-based motivation system.
Educational therapies. Children with autism spectrum disorder often respond well to highly structured educational programs. Successful programs typically include a team of specialists and a variety of activities to improve social skills, communication and behavior. Preschool children who receive intensive, individualized behavioral interventions often show good progress.
Family therapies. Parents and other family members can learn how to play and interact with their children in ways that promote social interaction skills, manage problem behaviors, and teach daily living skills and communication.
Other therapies. Depending on your child's needs, speech therapy to improve communication skills, occupational therapy to teach activities of daily living, and physical therapy to improve movement and balance may be beneficial. A psychologist can recommend ways to address problem behavior.
Medications. No medication can improve the core signs of autism spectrum disorder, but specific medications can help control symptoms. For example, certain medications may be prescribed if your child is hyperactive; antipsychotic drugs are sometimes used to treat severe behavioral problems; and antidepressants may be prescribed for anxiety. Keep all health care providers updated on any medications or supplements your child is taking. Some medications and supplements can interact, causing dangerous side effects.

Managing other medical and mental health conditions

In addition to autism spectrum disorder, children, teens and adults can also experience:

Medical health issues. Children with autism spectrum disorder may also have medical issues, such as epilepsy, sleep disorders, limited food preferences or stomach problems. Ask your child's doctor how to best manage these conditions together.
Problems with transition to adulthood. Teens and young adults with autism spectrum disorder may have difficulty understanding body changes. Also, social situations become increasingly complex in adolescence, and there may be less tolerance for individual differences. Behavior problems may be challenging during the teen years.
Other mental health disorders. Teens and adults with autism spectrum disorder often experience other mental health disorders, such as anxiety and depression. Your doctor, mental health professional, and community advocacy and service organizations can offer help.

Planning for the future

Children with autism spectrum disorder typically continue to learn and compensate for problems throughout life, but most will continue to require some level of support. Planning for your child's future opportunities, such as employment, college, living situation, independence and the services required for support can make this process smoother.

More Information

Cognitive behavioral therapy

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Alternative medicine

Because autism spectrum disorder can't be cured, many parents seek alternative or complementary therapies, but these treatments have little or no research to show that they're effective. You could, unintentionally, reinforce negative behaviors. And some alternative treatments are potentially dangerous.

Talk with your child's doctor about the scientific evidence of any therapy that you're considering for your child.

Examples of complementary and alternative therapies that may offer some benefit when used in combination with evidence-based treatments include:

Creative therapies. Some parents choose to supplement educational and medical intervention with art therapy or music therapy, which focuses on reducing a child's sensitivity to touch or sound. These therapies may offer some benefit when used along with other treatments.
Sensory-based therapies. These therapies are based on the unproven theory that people with autism spectrum disorder have a sensory processing disorder that causes problems tolerating or processing sensory information, such as touch, balance and hearing. Therapists use brushes, squeeze toys, trampolines and other materials to stimulate these senses. Research has not shown these therapies to be effective, but it's possible they may offer some benefit when used along with other treatments.
Massage. While massage may be relaxing, there isn't enough evidence to determine if it improves symptoms of autism spectrum disorder.
Pet or horse therapy. Pets can provide companionship and recreation, but more research is needed to determine whether interaction with animals improves symptoms of autism spectrum disorder.

Some complementary and alternative therapies may not be harmful, but there's no evidence that they're helpful. Some may also include significant financial cost and be difficult to implement. Examples of these therapies include:

Special diets. There's no evidence that special diets are an effective treatment for autism spectrum disorder. And for growing children, restrictive diets can lead to nutritional deficiencies. If you decide to pursue a restrictive diet, work with a registered dietitian to create an appropriate meal plan for your child.
Vitamin supplements and probiotics. Although not harmful when used in normal amounts, there is no evidence they are beneficial for autism spectrum disorder symptoms, and supplements can be expensive. Talk to your doctor about vitamins and other supplements and the appropriate dosage for your child.
Acupuncture. This therapy has been used with the goal of improving autism spectrum disorder symptoms, but the effectiveness of acupuncture is not supported by research.

Some complementary and alternative treatments do not have evidence that they are beneficial and they're potentially dangerous. Examples of complementary and alternative treatments that are not recommended for autism spectrum disorder include:

Chelation therapy. This treatment is said to remove mercury and other heavy metals from the body, but there's no known link with autism spectrum disorder. Chelation therapy for autism spectrum disorder is not supported by research evidence and can be very dangerous. In some cases, children treated with chelation therapy have died.
Hyperbaric oxygen treatments. Hyperbaric oxygen is a treatment that involves breathing oxygen inside a pressurized chamber. This treatment has not been shown to be effective in treating autism spectrum disorder symptoms and is not approved by the Food and Drug Administration (FDA) for this use.
Intravenous immunoglobulin (IVIG) infusions. There is no evidence that using IVIG infusions improves autism spectrum disorder, and the FDA has not approved immunoglobulin products for this use.

Coping and support

Raising a child with autism spectrum disorder can be physically exhausting and emotionally draining. These suggestions may help:

Find a team of trusted professionals. A team, coordinated by your doctor, may include social workers, teachers, therapists, and a case manager or service coordinator. These professionals can help identify and evaluate the resources in your area and explain financial services and state and federal programs for children and adults with disabilities.
Keep records of visits with service providers. Your child may have visits, evaluations and meetings with many people involved in his or her care. Keep an organized file of these meetings and reports to help you decide about treatment options and monitor progress.
Learn about the disorder. There are many myths and misconceptions about autism spectrum disorder. Learning the truth can help you better understand your child and his or her attempts to communicate.
Take time for yourself and other family members. Caring for a child with autism spectrum disorder can put stress on your personal relationships and your family. To avoid burnout, take time out to relax, exercise or enjoy your favorite activities. Try to schedule one-on-one time with your other children and plan date nights with your spouse or partner — even if it's just watching a movie together after the children go to bed.
Seek out other families of children with autism spectrum disorder. Other families struggling with the challenges of autism spectrum disorder may have useful advice. Some communities have support groups for parents and siblings of children with the disorder.
Ask your doctor about new technologies and therapies. Researchers continue to explore new approaches to help children with autism spectrum disorder. See the Centers for Disease Control and Prevention website on autism spectrum disorders for helpful materials and links to resources.

Preparing for your appointment

Your child's health care provider will look for developmental problems at regular checkups. Mention any concerns you have during your appointment. If your child shows any signs of autism spectrum disorder, you'll likely be referred to a specialist who treats children with the disorder for an evaluation.

Bring a family member or friend with you to the appointment, if possible, to help you remember information and for emotional support.

Here's some information to help you prepare for your appointment.

What you can do

Before your child's appointment, make a list of:

Any medications, including vitamins, herbs and over-the-counter medicines that your child is taking, and their dosages.
Any concerns you have about your child's development and behavior.
When your child began talking and reaching developmental milestones. If your child has siblings, also share information about when they reached their milestones.
A description of how your child plays and interacts with other children, siblings and parents.
Questions to ask your child's doctor to make the most of your time.

In addition, it may be helpful to bring:

Notes of any observations from other adults and caregivers, such as babysitters, relatives and teachers. If your child has been evaluated by other health care professionals or an early intervention or school program, bring this assessment.
A record of developmental milestones for your child, such as a baby book or baby calendar, if you have one.
A video of your child's unusual behaviors or movements, if you have one.

Questions to ask your child's doctor may include:

Why do you think my child does (or doesn't) have autism spectrum disorder?
Is there a way to confirm the diagnosis?
If my child does have autism spectrum disorder, is there a way to tell how severe it is?
What changes can I expect to see in my child over time?
What kind of special therapies or care do children with autism spectrum disorder need?
How much and what kinds of regular medical care will my child need?
What kind of support is available to families of children with autism spectrum disorder?
How can I learn more about autism spectrum disorder?

Don't hesitate to ask other questions during your appointment.

What to expect from your child's doctor

Your child's doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over any points you want to focus on. Your doctor may ask:

What specific behaviors prompted your visit today?
When did you first notice these signs in your child? Have others noticed signs?
Have these behaviors been continuous or occasional?
Does your child have any other symptoms that might seem unrelated to autism spectrum disorder, such as stomach problems?
Does anything seem to improve your child's symptoms?
What, if anything, appears to worsen symptoms?
When did your child first crawl? Walk? Say his or her first word?
What are some of your child's favorite activities?
How does your child interact with you, siblings and other children? Does your child show interest in others, make eye contact, smile or want to play with others?
Does your child have a family history of autism spectrum disorder, language delay, Rett syndrome, obsessive-compulsive disorder, or anxiety or other mood disorders?
What is your child's education plan? What services does he or she receive through school?
Autism spectrum disorder (ASD). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/autism/facts.html. Accessed April 4, 2017.
Uno Y, et al. Early exposure to the combined measles-mumps-rubella vaccine and thimerosal-containing vaccines and risk of autism spectrum disorder. Vaccine. 2015;33:2511.
Taylor LE, et al. Vaccines are not associated with autism: An evidence-based meta-analysis of case-control and cohort studies. Vaccine. 2014;32:3623.
Weissman L, et al. Autism spectrum disorder in children and adolescents: Overview of management. https://www.uptodate.com/home. Accessed April 4, 2017.
Autism spectrum disorder. In: Diagnostic and Statistical Manual of Mental Disorders DSM-5. 5th ed. Arlington, Va.: American Psychiatric Association; 2013. http://dsm.psychiatryonline.org. Accessed April 4, 2017.
Weissman L, et al. Autism spectrum disorder in children and adolescents: Complementary and alternative therapies. https://www.uptodate.com/home. Accessed April 4, 2017.
Augustyn M. Autism spectrum disorder: Terminology, epidemiology, and pathogenesis. https://www.uptodate.com/home. Accessed April 4, 2017.
Bridgemohan C. Autism spectrum disorder: Surveillance and screening in primary care. https://www.uptodate.com/home. Accessed April 4, 2017.
Levy SE, et al. Complementary and alternative medicine treatments for children with autism spectrum disorder. Child and Adolescent Psychiatric Clinics of North America. 2015;24:117.
Brondino N, et al. Complementary and alternative therapies for autism spectrum disorder. Evidence-Based Complementary and Alternative Medicine. http://dx.doi.org/10.1155/2015/258589. Accessed April 4, 2017.
Volkmar F, et al. Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 2014;53:237.
Autism spectrum disorder (ASD). Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/autism/Pages/default.aspx. Accessed April 4, 2017.
American Academy of Pediatrics policy statement: Sensory integration therapies for children with developmental and behavioral disorders. Pediatrics. 2012;129:1186.
James S, et al. Chelation for autism spectrum disorder (ASD). Cochrane Database of Systematic Reviews. http://onlinelibrary.wiley.com/doi/10.1002/14651858.CD010766.pub2/abstract;jsessionid=9467860F2028507DFC5B69615F622F78.f04t02. Accessed April 4, 2017.
Van Schalkwyk GI, et al. Autism spectrum disorders: Challenges and opportunities for transition to adulthood. Child and Adolescent Psychiatric Clinics of North America. 2017;26:329.
Autism. Natural Medicines. https://naturalmedicines.therapeuticresearch.com. Accessed April 4, 2017.
Autism: Beware of potentially dangerous therapies and products. U.S. Food and Drug Administration. https://www.fda.gov/ForConsumers/ConsumerUpdates/ucm394757.htm?source=govdelivery&utm_medium=email&utm_source=govdelivery. Accessed May 19, 2017.
Drutz JE. Autism spectrum disorder and chronic disease: No evidence for vaccines or thimerosal as a contributing factor. https://www.uptodate.com/home. Accessed May 19, 2017.
Weissman L, et al. Autism spectrum disorder in children and adolescents: Behavioral and educational interventions. https://www.uptodate.com/home. Accessed May 19, 2017.
Huebner AR (expert opinion). Mayo Clinic, Rochester, Minn. June 7, 2017.
Autism spectrum disorder and digestive symptoms

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Treatment Information and Resources

There are dozens of autism treatments, and choosing the right ones depends on the individual’s needs as well as challenges.

When selecting a treatment, it is important to work closely with your doctor and other healthcare professionals. It is also recommended that you inquire about the evidence supporting the effectiveness of the prescribed treatment(s). This should include positive and negative findings as well as possible side effects.

Here are some of the most common treatments for autism.

Behavioral Therapies

Applied Behavior Analysis (ABA) – ABA refers to understanding a person’s behavior in the context of their surroundings rather than in a controlled laboratory setting. The aim of this method is to improve specific behaviors and develop skills, and it is based on traditional behavior strategies such as rewarding appropriate behaviors and ignoring or discouraging inappropriate behaviors. ABA is among the most widely studied and frequently used therapies for those on the autism spectrum. There are several forms of ABA therapy including:

Pivotal-Response Treatment (PRT)
Early Start Denver Model
Functional Communication
Verbal Learning

Outpatient Therapies

Speech Therapy – Speech therapy is often recommended when a child has difficulties learning vocabulary, pronouncing words, using an appropriate tone of voice, understanding and using body language, and asking and responding to questions. Speech therapy may include alternative augmentative communication (AAC) strategies like Picture Exchange Communication System (PECS), speech output devices, and sign language.

Sensory Therapy (ST) – Your child may be over-reactive, under-reactive, or even crave certain sensory sensations. These sensations may include loud sounds, bright lights, certain tastes, light touch, and/or strong smells. Numerous sensory interventions have been developed to treat various sensory-challenges including sensory integration as well as various visual and auditory interventions.

Occupational Therapy (OT) – This therapy helps improve numerous skills and behaviors with the goal of independence. OT therapists may work on daily activities, hand-eye coordination, sleep, social interactions, and play.

Physical Therapy (PT) – The aim of PT is to improve overall motor movement. This may include posture, balance, motor coordination, and flexibility.

Evidence-based Sensorimotor Therapies

Music and Art Therapy – These therapies were designed to help individuals deal with anxiety and emotions as well as help express themselves.

Animal Therapy – This form of therapy may reduce fear and anxiety toward animals by interacting with socially-oriented animals in structured therapeutic situations. These animals often include horses , dogs, and dolphins. Those on the autism spectrum have also reported a calm feeling while interacting with these animals.

Who provides autism treatment?

Your care team will work with you to develop an effective treatment plan that may include one or more of the following professionals:

Behaviorist
Gastroenterologist
Neurologist
Nutritionist
OT/PT/ST therapists
Pediatrician
Psychiatrist
Psychologist

The best treatment for autism is the one that works

First and most important, early intervention can make a big difference. The earlier an individual receives appropriate support, the better his/her prognosis .

Your doctor can help you decide which autism treatments are appropriate for your child. Keep in mind that there is no single treatment for everyone with autism. Instead, there are a variety of therapies that may be helpful addressing symptoms depending on the individual’s needs. What works for one person may be less effective – or ineffective – for somebody else.

As your child grows and develops, some treatments might become less effective, while others become more important. You should discuss these changes with your doctor to assure the treatment plan stays current.

Gathering reports from the treatment team and completing the Autism Treatment Evaluation Checklist (ATEC) prior to meeting with your doctor will help identify issues to address and referrals that may be needed. The ATEC is a helpful tool designed to measure changes of symptoms and behaviors over time. Note: Casual observations of your child’s development are typically not an accurate way to monitor progress. The ATEC provides a free, convenient tool that can be used to track changes over time. The checklist can also be useful to help determine whether a therapy is beneficial. To track a specific approach, complete the ATEC before (baseline) and after implementing a treatment and track changes over time.

For more than 50 years, the Autism Research Institute has provided support and guidance to parents and professionals worldwide, and we will continue to do so wherever the journey takes all of us.

Prenatal exposure to cannabis may increase likelihood of autism

Melanie Glock 2024-04-28T15:45:52-05:00 August 29th, 2023 | News |

Cannabis use during pregnancy may alter placental and fetal DNA methylation (the process of turning genes “on” and “off”) in ways that increase the likelihood of autism spectrum disorder (ASD) or other

New multi-national study adds to evidence linking alterations of the gut microbiome to autism

Melanie Glock 2024-04-28T15:46:00-05:00 August 29th, 2023 | News |

Strong new evidence linking alterations of the gut microbiome to autism spectrum disorders (ASD) comes from a new multi-national study by James Morton and colleagues. In the study, researchers in North America,

Sleep problems in infancy associated with ASD, autism traits, and social attention alterations

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A new study from the United Kingdom indicates that sleep problems in infancy may help to predict later social skills deficits, autism traits, and autism diagnoses in children. Jannath Begum-Ali and colleagues

Preemptive therapy prior to autism diagnosis may be highly cost-effective

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Preemptive therapy for infants who display early symptoms of autism may be highly cost-effective, according to a new study from Australia. Leonie Segal and colleagues based their economic analysis on a 2021

Earlier intervention leads to greater benefits for kids with autism

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Children with autism spectrum disorders (ASD) who receive intensive early intervention at the age of 18 months fare significantly better than those who begin receiving this type of intervention at 27 months

ARI: Advancing our Understanding of Autism

Melanie Glock 2023-06-06T15:53:39-05:00 June 5th, 2023 | News |

Established in 1967, the Autism Research Institute (ARI) is the world's longest-standing organization dedicated to autism research. For more than half a century, we’ve worked to improve the quality of life for

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Signs and Symptoms
Living with Autism Spectrum Disorder
Frequently Asked Questions (FAQs)
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Treatment and Intervention for Autism Spectrum Disorder

Current treatments for autism spectrum disorder (ASD) seek to reduce symptoms that interfere with daily functioning and quality of life.
Treatments can be given in education, health, community, or home settings, or a combination of settings.
As individuals with ASD leave high school and grow into adulthood, additional services can help improve health and daily functioning, and facilitate social and community engagement.

educator with student high fiving in library

Types of Treatments

There are many types of treatments available. These treatments generally can be broken down into the following categories, although some treatments involve more than one approach:

Developmental
Educational
Social-relational
Pharmacological
Psychological
Complementary and alternative

Behavioral approaches

Behavioral approaches focus on changing behaviors by understanding what happens before and after the behavior. Behavioral approaches have the most evidence for treating symptoms of ASD. They have become widely accepted among educators and healthcare professionals and are used in many schools and treatment clinics. A notable behavioral treatment for people with ASD is called applied behavior analysis (ABA) . ABA encourages desired behaviors and discourages undesired behaviors to improve a variety of skills. Progress is tracked and measured.

Two ABA teaching styles are discrete trial training (DTT) and pivotal response training (PRT) .

DTT uses step-by-step instructions to teach a desired behavior or response. Lessons are broken down into their simplest parts, and desired answers and behaviors are rewarded. Undesired answers and behaviors are ignored.
PRT takes place in a natural setting rather than clinic setting. The goal of PRT is to improve a few "pivotal skills" that will help the person learn many other skills. One example of a pivotal skill is being able to initiate communication with others.

Developmental approaches

Developmental approaches focus on improving specific developmental skills, such as language skills or physical skills, or a broader range of interconnected developmental abilities. Developmental approaches are often combined with behavioral approaches.

The most common developmental therapy for people with ASD is speech and language therapy . Speech and language therapy helps to improve the person's understanding and use of speech and language. Some people with ASD communicate verbally. Others may communicate through the use of signs, gestures, pictures, or an electronic communication device.

Occupational therapy teaches skills that help the person live as independently as possible. Skills may include dressing, eating, bathing, and relating to people. Occupational therapy can also include

Sensory integration therapy to help improve responses to sensory input that may be restrictive or overwhelming.
Physical therapy can help improve physical skills, such as fine movements of the fingers or larger movements of the trunk and body.

The Early Start Denver Model (ESDM) is a broad developmental approach based on the principles of ABA. It is used with children 12–48 months of age. Parents and therapists use play, social exchanges, and shared attention in natural settings to improve language, social, and learning skills.

Educational approaches

child writing and coloring in a classroom

Educational treatments are given in a classroom setting. One type of educational approach is the Treatment and Education of Autistic and Related Communication-Handicapped Children (TEACCH) approach. TEACCH is based on the idea that people with autism thrive on consistency and visual learning. It provides teachers with ways to adjust the classroom structure and improve academic and other outcomes. For example, daily routines can be written or drawn and placed in clear sight. Boundaries can be set around learning stations. Verbal instructions can be complemented with visual instructions or physical demonstrations.

Social-relational approaches

Social-relational treatments focus on improving social skills and building emotional bonds. Some social-relational approaches involve parents or peer mentors.

The Developmental, Individual Differences, Relationship-Based model (also called DIR or "Floor Time") encourages parents and therapists to follow the interests of the individual to expand opportunities for communication.
The Relationship Development Intervention (RDI) model involves activities that increase motivation, interest, and abilities to participate in shared social interactions.
Social Stories provide simple descriptions of what to expect in a social situation.
Social skills groups provide opportunities for people with ASD to practice social skills in a structured environment.

Pharmacological approaches

Important to know‎.

Some medications treat co-occurring symptoms (those that happen along with ASD) and can help people with ASD function better. For example, medication might help manage high energy levels, inability to focus, or self-harming behavior, such as head banging or hand biting. Medication can also help manage co-occurring psychological conditions, such as anxiety or depression, in addition to medical conditions such as seizures, sleep problems, or stomach or other gastrointestinal problems.

It is important to work with a doctor who has experience in treating people with ASD when considering the use of medication. This applies to both prescription medication and over-the-counter medication. Individuals, families, and doctors must work together to monitor progress and reactions to be sure any negative side effects of the medication do not outweigh the benefits.

Psychological approaches

Psychological approaches can help people with ASD cope with anxiety, depression, and other mental health issues. Cognitive-behavior therapy (CBT) is one psychological approach that focuses on learning the connections between thoughts, feelings, and behaviors. During CBT, a therapist and the individual work together to identify goals and then change how the person thinks about a situation to change how they react to the situation.

Complementary and alternative treatments

Some people with ASD and their families use treatments that do not fit into any of the other categories. These treatments are known as complementary and alternative treatments. Complementary and alternative treatments are often used to supplement more traditional approaches. They might include special diets, herbal supplements, chiropractic care, animal therapy, arts therapy, mindfulness, or relaxation therapies. Individuals and families should always talk to their doctor before starting a complementary and alternative treatment.

Additional ASD Treatment Options‎

For more information on ASD treatment options, please check out these additional resources:

American Academy of Pediatrics Council on Children with Disabilities
Autism Society
Interagency Autism Coordinating Committee (IACC)
National Institute on Child Health and Human Development
Hyman SL, Levy SE, Myers SM; Council on Children with Disabilities, Section on Developmental and Behavioral Pediatrics. Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics . 2020;145(1):e20193447.

Autism Spectrum Disorder (ASD)

Autism spectrum disorder (ASD) is a developmental disability that can cause significant social, communication and behavioral challenges. CDC is committed to continuing to provide essential data on ASD and develop resources that help identify children with ASD as early as possible.

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Neurotherapeutics
v.19(1); 2022 Jan

An Update on Psychopharmacological Treatment of Autism Spectrum Disorder

Ramkumar aishworiya.

1 Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, 2825 50th Street, Sacramento, CA 95817 USA

2 Khoo Teck Puat-National University Children’s Medical Institute, National University Health System, 5 Lower Kent Ridge Road, Singapore, 119074 Singapore

3 Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, 1E Kent Ridge Road, Singapore, 119228 Singapore

Tatiana Valica

4 Association for Children With Autism, Chisinau, Moldova

Randi Hagerman

5 Department of Pediatrics, University of California Davis School of Medicine, 4610 X St, Sacramento, CA 95817 USA

Bibiana Restrepo

Associated data.

Supplementary Information

The online version contains supplementary material available at 10.1007/s13311-022-01183-1.

Introduction

ASD is a complex neurodevelopmental, biologically based condition with an estimated prevalence of 1 in 44 people [ 1 ] that impacts all areas of child development — from behavior, problem solving abilities and self-care skills, to complex social communication ability, language, and executive functioning skills. The range of symptoms and severity of ASD vary greatly from child to child, and clinical manifestations depend on the individual’s age, cognitive and language abilities, and co-occurring conditions. The last revision of the Diagnostic and Statistical Manual (DSM-5) defines ASD as impairments in two main domains: (1) social communication and interaction, which comprises challenges in social-emotional reciprocity, challenges in using nonverbal strategies during social interaction, and challenges developing, maintaining and understanding relationships, and (2) restricted, repetitive, and stereotyped patterns of behavior, manifested by unusual repetitive movements or behaviors, restricted interests, insistence on sameness and inflexible adherence to routines, as well as sensory challenges ranging from seeking to avoiding certain sensory stimuli [ 2 – 4 ]. However, a range of behavioral, cognitive, and emotional disturbances in ASD can also be attributed to a high rate of co-occurring mental health and medical conditions such as attention deficit hyperactivity disorder (ADHD), anxiety, depression, phobias, intellectual disability, speech/language impairment, restrictive/avoidant food intake, sleep issues, sensory processing issues, and genetic conditions. This often makes the recognition, diagnosis, and clinical management of ASD even more complex and difficult [ 5 – 8 ].

Non-pharmacological (Behavioral) Interventions

Odom et al. [ 13 ] and Wong et al. [ 15 ] have classified behavioral evidence–based interventions into two groups: comprehensive treatment models (CTMs) and focused interventions.

Established Psychopharmacological Treatments

General Principles in Using Pharmacological Treatment in ASD

Serotoninergic Medications

Atypical Antipsychotics

Stimulant Medications

Stimulants are usually the first line of treatment to treat co-occurring attention deficit and hyperactivity disorder (ADHD) as they present with a rapid clinical effect and there is enough data supporting their use and safety. Approximately half of autistic children also meet criteria for ADHD [ 42 ], but prevalence widely varies based on samples [ 8 , 43 – 47 ]. Treating co-occurring ADHD symptoms in autistic individuals should focus on improvement in enhancing their daily function in multiple settings, including learning, and hopefully long-term functional outcomes improving associated symptoms causing impairment in the academic setting, peer relationships, and emotional regulation, which are also key predictors and mediators of functional difficulties in adulthood. Before starting a patient on a regimen, the prescribing clinician should assess the potential risks for pharmacotherapy by obtaining a complete past medical history, family history, and a physical examination with a specific focus on the cardiovascular system. It is important to obtain pretreatment baseline information and a close follow up to objectively evaluate the impact of common side effects associated with pharmacotherapy for ADHD (i.e., appetite changes, hypertension, weight loss, sleep disturbances, headaches, abdominal pain). Baseline sleep problems do not appear to predict stimulant-related sleep problems and may improve with stimulant therapy [ 48 ]. Adolescent patients should be assessed for substance use or abuse prior to starting treatment.

Alpha-2-adrenergic Agonists

N-acetylcysteine

Dietary Supplements

Sulforaphane is a naturally occurring isothiocyanate (found in broccoli and other cruciferous vegetables) [ 63 – 65 ]. Sulforaphane is an antioxidant, anti-inflammatory, and mitochondrial protective agent that has been studied in several animal models and humans with neurodegenerative and neurodevelopmental disorders [ 66 ]. Sulforaphane is a sulfur-rich dietary phytochemical which can penetrate the blood brain barrier, and it subsequently induces the nuclear factor erythroid 2 related factor 2 ( Nrf2 ) signaling cascade that stimulates the expression of more than 200 genes that are antioxidants and involved in detoxification and neuroprotection in the CNS [ 67 ]. The effect leads to reduction of superoxide and other reactive oxygen species (ROS), upregulation of the proteozome system to digest unfolded or misfolded proteins, enhancement of autophagy, inhibition of pro-inflammatory cytokines, protection from heme toxicity, and defense of neuronal cells from Aβ 42 -mediated cytotoxicity.

Emerging Targeted Treatments with a Possible Role in ASD

Oxytocin (OXT) is a neuropeptide synthesized in the hypothalamus that plays a critical role in social functioning. Extant literature has shown that OXT enhances social processing in typically developing adults (enhanced eye contact, better emotion recognition in faces) immediately after its administration [ 74 ]. There have been generally positive results of OXT in adults with ASD, with trials showing improvements in repetitive behaviors, social reciprocity, and emotion recognition [ 75 – 77 ]. However, all these trials studied only short-term benefits (within a few weeks) of OXT administration. A recent randomised, placebo-controlled, double-blind study in adults with ASD showed improvements in self-reported repetitive behaviors and positive mood at 1 year post treatment after an initial 4 weeks of oxytocin treatment [ 78 ]. However, in this same study, there were no significant treatment benefits for social responsiveness with OXT [ 78 ]. Another recent study in young adults with ASD also did not demonstrate any immediate benefits of OXT on empathy and social perception [ 79 ].

Results of OXT studies in children have overall been more equivocal with mixed results. Although 4 studies showed positive short-term results of OXT administration on social responsiveness (following 4 or 5 weeks of OXT administration) [ 80 – 83 ], another 2 studies did not demonstrate any OXT specific improvements in social responsiveness or repetitive behavior in children with ASD [ 84 , 85 ]. A recent randomized controlled trial (RCT) however did not show any significant effects between the OXT and placebo group in aberrant behavior, social communication, or cognition [ 86 ]. At the neural networks level, it has been shown that intranasal OXT leads to increased activation in the brain regions known to be involved in perceiving and thinking about social-emotional information and enhances effective connectivity between nodes of the brain’s reward and socioemotional processing systems [ 87 , 88 ]. There were no noted side effects in these studies on children with ASD, thus far, although animal studies have raised the possibility of increased basal OXT levels with long-term OXT administration; the clinical effects of this being unclear. Of pertinence, there remains a lack of conclusive evidence for the long-term beneficial effects of OXT in addressing the core symptoms of autism [ 89 ]. Given that the vast majority of studies in children utilize parent-reported outcome measures of social and behavioral symptoms, inherent limitations of bias in reporting even in placebo-controlled trials are likely to come into play. Another important consideration is whether the gains that are seen with OXT administration in the experimental setting translate to real life and this is also unclear. The role of OXT thus far has been limited to its immediate effect after administration and hence is not a single treatment option for ASD. Nonetheless, as illustrated by a recent meta-analysis, there does seem to be overall beneficial effects of OXT on social symptoms of ASD, although this review included both children and adults [ 90 ]. There is also some promising research looking at the role of OXT in combination with other treatment modalities including behavior therapy and probiotics, with clinical trials in this area ongoing [ 91 , 92 ]. It is also likely that the effects of OXT in ASD are modulated by age, gender, and possibly genetic factors [ 77 , 79 , 90 ]. As such, although it holds much promise, the use of OXT in individuals with ASD is currently not a mainstream treatment.

Animal studies in FXS have demonstrated a hyperactive insulin receptor and up-regulation of the mammalian target of rapamycin complex 1 (mTORC1) and mitogen-activated protein kinase/extracellular signal-related kinases (MAPK/ERK) signaling pathways, as well as elevation of MMP-9 levels in the absence of FMRP, the protein produced by the FMR1 gene [ 106 – 108 ]. Metformin is a bi-guanide that is a primary treatment for type 2 diabetes, but it can also reduce the appetite in individuals with obesity. Therefore, studies of metformin were first carried out in patients with FXS who demonstrated obesity, often with the Prader-Willi-phenotype of FXS [ 109 ]. In a handful of patients with FXS treated clinically with metformin between the ages of 4 and 60 years old, there was improvement in overeating but also on the ABC subscales of irritability, aggression, and social avoidance [ 109 ]. Parents also stated that they saw improvement in the expressive language abilities in conversation. The potential language improvements are currently being studied in a controlled trial of metformin occurring over 3 sites, 2 in Canada (Edmonton and Montreal), and one site in the USA at the MIND Institute funded by the Azrieli Foundation ( {"type":"clinical-trial","attrs":{"text":"NCT03479476","term_id":"NCT03479476"}} NCT03479476 , {"type":"clinical-trial","attrs":{"text":"NCT03862950","term_id":"NCT03862950"}} NCT03862950 ). Patients ages 6 to 45 are recruited into a randomized controlled trial lasting 4 months with outcome measures including the Expressive Language Sampling as the primary outcome but also event related potentials, eye tracking, NIH toolbox, and other behavioral measures are assessed. The results will be available in 2022. Additional open label studies have been carried out with metformin including one in children ages 2 to 7 years old with FXS, and improvements were seen in behavior and development on the MSEL [ 110 ]. Individual case studies have shown that macroorchidism did not develop in boy who started metformin clinically before puberty [ 111 ] and two adults with FXS improved their IQ when using metformin for over one year [ 112 ].

Cannabidiol

Trofinetide

Insulin like growth factor 1 (IGF1) is considered an emerging treatment for ASD in animal and cellular models in ASD [ 133 – 136 ]. Trofinetide is an analogue of the amino-terminal tripeptide of IGF1, and it has been studied in patient groups of ASD subtypes. Trofinetide is glycyl-L-2-methylprolyl-L-glutamic acid, and it was studied in a controlled phase 2 trial in 82 children with Rett syndrome ages 5 to 15 years, and significant benefit was found in the high-dose group (200 mg/kg/day) compared to placebo [ 137 ]. Significant benefits were seen in several measures including the Rett Syndrome Behavior Scale, the Rett Syndrome Clinician Rating Scale, and a visual analogue scale. This report led to a multicenter phase 3 controlled trial in Rett syndrome which is ongoing currently.

Phosphordiasterase 4D Inhibitors

Anavex 2–73

Anavex 2–73 (AV 2–73; Blarcamesine) is a sigma 1 receptor agonist that works between the endoplasmic reticulum and the mitochondrial membrane to normalize calcium dysregulation, oxidative stress, and mitochondrial dysfunction which is seen in many forms of ASD. It has demonstrated significant benefits in the KO mouse model of FXS where multiple behaviors were improved and deficient brain derived neurotropic factor (BDNF) levels were normalized [ 144 ]. In addition, Kaufman et al. [ 145 ] also reported significant benefits in the Rett syndrome mouse model with a rescue of behavior and BDNF levels and this work lead to patient studies in Rett syndrome that have demonstrated efficacy in a controlled trial (Anavex Life Sciences press release 2021). AV2-73 also has beneficial effects in neurodegenerative disorders because of improvement in proteostasis, autophagy, oxidative stress, prevention of protein aggregates, and improvement in mitochondrial function leading to benefits in Alzheimer’ disease and Parkinson’s disease dementia [ 146 – 148 ]. Significant potential exists for AV2-73 to improve symptoms in Fragile X-associated Tremor Ataxia (FXTAS), a neurodegenerative disease seen in approximately 40% of older carriers of the fragile X premutation, because calcium dysregulation, mitochondrial dysfunction, proteostasis, and aggregations of proteins causing inclusions occur in FXTAS [ 149 ].

Gene Therapy

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Study shows heightened sensitivity to PTSD in autism

For the first time, researchers from the Queensland Brain Institute have proven that a mild stress is enough to trigger post-traumatic stress disorder (PTSD) in mouse models of autism spectrum disorder (ASD).

Dr Shaam Al Abed and Dr Nathalie Dehorter have demonstrated that the two disorders share a reciprocal relationship, identifying a predisposition to PTSD in ASD, and discovering that core autism traits are worsened when traumatic memories are formed.

While recent studies in humans have highlighted the co-occurrence of ASD and PTSD, the link between the disorders is often overlooked and remains poorly understood.

"We set out to determine the occurrence of traumatic stress in ASD, and to understand the neurobiological mechanisms underlying the reported predisposition to PTSD," said Dr Al Abed.

ASD and PTSD share common features, including impaired emotional regulation, altered explicit memory, and difficulties with fear conditioning.

"We demonstrated in four mouse models of ASD that a single mild stress can form a traumatic memory."

"In a control population, on the other hand, PTSD is triggered by extreme stress."

"We wanted to understand this unique perception of stress in ASD that leads to the formation of PTSD."

The prefrontal cortex is a highly specialised area in the front part of the brain that plays a crucial role in social cognition and behaviour.

According to Dr Dehorter, dysfunction in the prefrontal cortex has been linked to both disorders.

"We identified specific cortical circuit alterations that trigger the switch between the formation of a normal memory and a PTSD-like memory during stress," said Dr Dehorter.

The prefrontal cortex contains specialised cells called interneurons, which are crucial for adapted fear memorisation and normal sensory function and play a key role in stress-related disorders.

The formation of PTSD-like memories is triggered by over activation of the prefrontal cortex that is present in ASD and throws out the balance of these cortical circuits.

The capabilities of interneurons to respond to stress is altered in ASD. This alteration worsens autism traits following the formation of a traumatic memory.

"We didn't anticipate that forming a traumatic memory would aggravate the social and behavioural difficulties in ASD."

"What is really promising is once the traumatic memories are successfully recontextualised using behavioural therapy, the ASD traits that were worsened following the stress, are dramatically improved."

This discovery validates the assumption that the two disorders are closely linked and could change the way clinicians treat their patients.

An awareness of the PTSD predisposition and the success of behavioural therapy in treating it could shape the approach to managing stress in ASD.

This paper was published in iScience .

Mental Health Research
Psychology Research
Nervous System
Accident and Trauma
Post-traumatic stress disorder
Psychiatric service dog
Autistic spectrum
Mental illness
Obsessive-compulsive disorder
Stress (medicine)

Story Source:

Materials provided by University of Queensland . Note: Content may be edited for style and length.

Journal Reference :

Alice Shaam Al Abed, Tiarne Vickie Allen, Noorya Yasmin Ahmed, Azza Sellami, Yovina Sontani, Elise Caitlin Rawlinson, Aline Marighetto, Aline Desmedt, Nathalie Dehorter. Parvalbumin interneuron activity in autism underlies susceptibility to PTSD-like memory formation . iScience , 2024; 27 (5): 109747 DOI: 10.1016/j.isci.2024.109747

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Western researchers’ breakthrough paves way for ALS cure

Fueled by a $10-million gift from the temerty foundation, a possible new als treatment could move to clinical trials within five years.

By Prabhjot Sohal

In a groundbreaking Canadian discovery powered by philanthropy, a team of Western University researchers led by Dr. Michael Strong has uncovered a potential path toward a cure for amyotrophic lateral sclerosis (ALS).

The breakthrough, which illustrates how protein interactions can preserve or prevent the nerve cell death that is a hallmark of ALS, is the culmination of decades of Western research backed by the Temerty Foundation.

“As a doctor, it’s been so important for me to be able to sit down with a patient or their family and say to them, ‘we're trying to stop this disease,’” said Strong, a clinician-scientist who has devoted his career to finding a cure for ALS. “It's been 30 years of work to get here; 30 years of looking after families and patients and their loved ones, when all we had was hope. This gives us reason to believe we've discovered a path to treatment.”

ALS, also known as Lou Gehrig’s disease, is a debilitating neurodegenerative condition that progressively impairs nerve cells responsible for muscle control, leading to muscle wastage, paralysis and, ultimately, death. The average life expectancy of an ALS patient post-diagnosis is a mere two to five years.

In a study recently published in the journal Brain , Strong’s team found that targeting an interaction between two proteins present in ALS-impacted nerve cells can halt or reverse the disease’s progression. The team also identified a mechanism to make this possible.

“ This gives us reason to believe we've discovered a path to treatment.” —Dr. Michael Strong

“Importantly, this interaction could be key to unlocking a treatment not just for ALS but also for other related neurological conditions, like frontotemporal dementia,” said Strong, who holds the Arthur J. Hudson Chair in ALS Research at Western’s Schulich School of Medicine & Dentistry. “It is a gamechanger.”

In virtually all ALS patients, a protein called TDP-43 is responsible for forming abnormal clumps within cells, which causes cell death. In recent years, Strong’s team discovered a second protein, called RGNEF, with functions that are opposite to TDP-43.

The team’s latest breakthrough identifies a specific fragment of that RGNEF protein, named NF242, that can mitigate the toxic effects of the ALS-causing protein. The researchers discovered that when the two proteins interact with each other, the toxicity of the ALS-causing protein is removed, significantly reducing damage to the nerve cell and preventing its death.

In fruit flies, the approach notably extended lifespan, improved motor functions and protected nerve cells from degeneration. Similarly, in mouse models, the approach led to enhanced lifespan and mobility, along with a reduction in neuroinflammation markers.

“The investment – and foresight – of the Temerty Foundation has accelerated progress in finding an effective treatment for ALS.” —Western President Alan Shepard

The team’s path to discovery was paved by the Temerty family’s long-standing investment in ALS research at Western – support Strong calls “truly transformational.” Now Strong and his team have set a goal to bring their potential treatment to human clinical trials in five years, a mission that is fueled by a new gift from the Temerty Foundation.

The foundation, established by James Temerty, founder of Northland Power Inc., and Louise Arcand Temerty, is investing $10 million over five years to power the next steps to bring this treatment to ALS patients.

“Finding an effective treatment for ALS would mean so much to people living with this terrible disease and to their loved ones,” said James Temerty. “Western is pushing the frontiers of ALS knowledge, and we are excited for the opportunity to contribute to the next phase of this groundbreaking research.”

The new gift by the Temerty Foundation brings the family’s total investment in neurodegenerative disease research at Western to $18 million.

“Dr. Strong's relentless dedication to his field is matched only by the Temerty family’s deep desire to make a difference for the thousands of people around the world diagnosed with this devastating disease,” said Western President Alan Shepard. “The investment – and foresight – of the Temerty Foundation has accelerated progress in finding an effective treatment for ALS. We are grateful for the Temerty family’s commitment to life-changing research.”

“This is a pivotal moment in ALS research that could truly transform patient lives,” said Dr. John Yoo, dean at Schulich Medicine & Dentistry. “With Dr. Strong’s leadership, our continued investment in the best tools and technology and the visionary support of the Temerty Foundation, we are thrilled to be heralding in a new era of hope for patients with ALS.”

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No link between National Childhood Vaccine Injury Act, rise in autism rates | Fact check

The claim: National Childhood Vaccine Injury Act linked to increase in autism rates

A May 11 Instagram post ( direct link , archive link ) shows a graph that depicts a decades-long rise in the rate of autism. The graph's title claims the rate of the condition has increased "277–fold" since 1970.

The graph includes a red arrow labeled "1986 National Childhood Vaccine Injury Act," which points to an area on the graph that precedes a sharp rise.

"When something increases over 200-fold, it is not accidental," reads the post. "Such significant changes in a short span are intentional."

The post was liked more than 2,500 times in a week.

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Our rating: False

The increase in autism rates is a result of changes to diagnostic criteria and more public awareness, an expert said. It isn't related to the National Childhood Vaccine Injury Act, which limited manufacturer liability and created a program to compensate people for injuries caused by vaccines.

Autism rates up due to diagnostic changes, awareness

In 1986, Congress passed the National Childhood Vaccine Injury Act after lawsuits against vaccine manufacturers led several to halt production, resulting in a shortage that concerned public health officials. It created the National Vaccine Injury Compensation Program , which pays people for injuries caused by vaccines and protects manufacturers from litigation in a no-fault system separate from the civil courts .

The program has paid about $5 billion in response to more than 10,000 vaccine-related injury claims, according to the Health Resources and Services Administration, which also states that "Being awarded compensation for a petition does not necessarily mean that the vaccine caused the alleged injury."

The reported autism rate in the U.S. has indeed increased in recent decades , rising from 1 in 150 children in 2000 to 1 in 36 children in 2020, according to the Autism and Developmental Disabilities Monitoring Network , a program funded by the Centers for Disease Control and Prevention .

The CDC says the explanation for that change isn't easy to pin down.

"It is unclear how much this is due to changes to the clinical definition of ASD (autism spectrum disorder), which may include more people than previous definitions, and better efforts to diagnose ASD, which would identify people with ASD who were not previously identified," the agency says in a note accompanying the year-to-year data. "However, a true change in the number of people with ASD is possible and could be due to a combination of factors."

Christina Corsello , director of clinical services for the University of North Carolina's TEACCH Autism Program , attributed the growing number of cases to the changing definition and growing awareness.

Fact check : UK phone booth defibrillator conversions began before COVID pandemic

In 1994, the DSM-IV became the first edition of the diagnostic manual to categorize autism as a spectrum , according to The Transmitter, a publication that covers neuroscience . When the DSM-5 was released in 2013, it introduced the term ‘autism spectrum disorder,’ which combined what had been multiple separate diagnoses.

"Those revisions have allowed us to capture and include children who might have more mild difficulties, more subtle difficulties and less comorbid cognitive delays or intellectual disability," Corsello said.

There is much more information about autism available to the public now than in the past, and doctors are more regularly screening children for autism, which all adds up to more children being diagnosed, she said.

Studies show no link between vaccines, autism

The post attempts to blame the autism increase on legislation that reduced liability for vaccine manufacturers, but that line of reasoning falls short since an array of studies have found no proof vaccines have any link to autism.

USA TODAY has repeatedly debunked the claim that vaccines are somehow linked to autism . Multiple studies have found no link between receiving vaccines and developing autism, according to the CDC .

The agency cites its own study that looked at the number of antigens given to children during their first two years of life. It found the number of antigens – the "substances in vaccines that cause the body’s immune system to produce disease-fighting antibodies" – was the same in children with or without autism.

In 2014, a meta-analysis of multiple studies determined that "vaccinations are not associated with the development of autism."

The post offers no proof of a connection, and the user who made it didn't respond to a request for comment from USA TODAY. It presents data on autism cases back to 1970 in making its claim of a 277-fold increase, but the CDC says there was little awareness or tracking before the 1980s , when the term autism "was used primarily to refer to autistic disorder and was thought to be rare, affecting approximately one in every 2,000 (0.5%) children." The CDC's autism monitoring program didn't start until 2000.

Corsello also said there is no link between vaccines and autism.

"There's no scientific evidence, and there have been many scientific studies to say that's not the case," she said.

Our fact-check sources:

Christina Corsello , May 15, Phone interview with USA TODAY
CDC, accessed May 15, Vaccine Safety
CDC, accessed May 15, Data & Statistics on Autism Spectrum Disorder
CDC, accessed May 15, Autism and Vaccines
CDC, accessed May 17, Autism Data Visualization Tool
CDC, Dec. 18, 2009, Prevalence of Autism Spectrum Disorders --- Autism and Developmental Disabilities Monitoring Network, United States, 2006
Health Resources and Services Administration, accessed May 15, About the National Vaccine Injury Compensation Program
The Transmitter, May 9, 2018, The evolution of ‘autism’ as a diagnosis, explained
National Library of Medicine, May 9, 2015, Vaccines are not associated with autism: an evidence-based meta-analysis of case-control and cohort studies

Thank you for supporting our journalism. You can subscribe to our print edition, ad-free app or e-newspaper here .

USA TODAY is a verified signatory of the International Fact-Checking Network, which requires a demonstrated commitment to nonpartisanship, fairness and transparency. Our fact-check work is supported in part by a grant from Meta .

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Autism cures may be closer as focus turns to early treatment
Autism cures may be closer as focus turns to early treatment. by Vittoria D'alessio, Horizon: The EU Research & Innovation Magazine. Credit: AI-generated image. Fresh insights into the genes that ...
Breakthrough Treatment for Autism Spectrum Disorder Within Reach
Breakthrough Treatment for Autism Spectrum Disorder Within Reach: Scientists Discover Key Clue. By DGIST (Daegu Gyeongbuk Institute of Science and Technology) December 25, 2022. In research that could lead to a fundamental treatment of autism spectrum disorder, scientists have identified the cell-specific molecular network of the developmental ...
Autism Breakthrough: New Treatment Significantly Improves Social Skills
The treatment caused neurological changes, including a decrease in inflammation and an increase in functionality, according to the researchers. A recent Tel Aviv University study found that pressure chamber therapy greatly improved social skills and the condition of the autistic brain. The research was carried out on autism animal models.
Treatment for autism symptoms earns ASU researchers patent
A new treatment for autism, created by Arizona State University researchers and their colleagues, has been granted a patent by the U.S. Patent Office. The therapy, called Microbiota Transplant Therapy (MTT), is aimed at improving chronic gastrointestinal symptoms often associated with the disorder. Receiving the approval of the patent for this ...
Advances in autism research, 2021: continuing to decipher the ...
In late 2001-early 2002 we received four exciting papers with findings on the genetics of autism that were published together in our March 2002 issue, with an accompanying editorial [2,3,4,5,6 ...
Therapeutic strategies for autism: targeting three levels of the
The past decade has yielded much success in the identification of risk genes for Autism Spectrum Disorder (ASD), with many studies implicating loss-of-function (LoF) mutations within these genes.
The Lancet Commission on the future of care and clinical research in autism
Affecting about 78 million people worldwide, autism is a condition of global importance because of its prevalence and the degree to which it can affect individuals and families. Autism awareness has grown monumentally in the past 20 years, yet most striking is that much more could be done to improve life outcomes for the highly heterogeneous group of people with autism. Such change will depend ...
Researchers Studying Century-Old Drug in Potential New Approach to Autism
May 26, 2017. By: Scott LaFee. Share This: In a small, randomized Phase I/II clinical trial (SAT1), researchers at University of California San Diego School of Medicine say a 100-year-old drug called suramin, originally developed to treat African sleeping sickness, was safely administered to children with autism spectrum disorder (ASD), who ...
An Update on Psychopharmacological Treatment of Autism Spectrum
In 1987, Lovaas published an article which introduced a new treatment approach describing a significant improvement of IQ scores and educational functioning in almost 50% of children with ASD [].Also known as The Lovaas Method of Applied Behavior Analysis, and subsequently as discrete trial training (DTT), it is an intensive, highly structured, long-term, one-on-one behavior intervention ...
Is gene therapy ready to treat some forms of autism?
The treatment, approved last year, demonstrated that a gene therapy could effectively reach brain cells, courtesy of an adeno-associated virus called AAV9 that crosses the blood-brain barrier. Traditional gene therapies for Angelman and other genetic forms of autism are still in the early stages of development.
A Potential Cure for Autism: New Research Finds That ...
A new study has shown that gene therapy may be able to prevent or reverse many deleterious effects of Pitt-Hopkins syndrome. New research from the UNC Neuroscience Center lab of Ben Philpot, Ph.D., finds restoring lost gene activity prevents many disease signs in an animal model of Pitt-Hopkins syndrome, a rare, single-gene neurodevelopmental ...
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The latest autism research includes investigations into factors associated with this ... Research has shown early diagnosis and treatment interventions can lead to better long-term outcomes for ...
Northwestern Investigators Develop New Therapy for Autism Subtype
A team of Northwestern investigators led by Peter Penzes, PhD, the Ruth and Evelyn Dunbar Professor of Psychiatry and Behavioral Sciences and director of the Center for Autism and Neurodevelopment, has developed a new therapy that could treat Phelan-McDermid syndrome, a subtype of autism spectrum disorder (ASD), according to findings published in Molecular Psychiatry.
Autism spectrum disorders
Autism spectrum disorders articles from across Nature Portfolio. ... Latest Research and Reviews. Sex differences in trajectories of cortical development in autistic children from 2-13 years of age.
The Latest Evidence on Autism Diagnoses and Treatment
Last month, the American Academy of Pediatrics published a new clinical report on autism spectrum disorders that summarizes the body of evidence that has developed over the past 12 years. The ...
Efficacy and Safety of Stem Cell Therapy in Children With Autism
We also included 1 latest research reports through citation searching to ensure that the retrieved literature includes all the studies in the published meta-analysis . Finally, 5 studies were included within our meta-analysis. ... We expect stem cell therapy to be used in the clinical treatment of autism and have significant therapeutic effects ...
Autism News -- ScienceDaily
Autism symptoms and new approaches to treatment. Read current research on autism including early diagnosis of autism spectrum disorders, genetic factors and more.
New Autism Study Reveals 'Tantalizing Clues' About Its Development
The American Journal of Pathology. , Lingyan, Gang and their colleagues investigated the role of dopamine signaling in autism development. "Our quest was to uncover a novel therapeutic target that ...
Autism spectrum disorder
Clinical trials. Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.. Alternative medicine. Because autism spectrum disorder can't be cured, many parents seek alternative or complementary therapies, but these treatments have little or no research to show that they're effective.
Autism Treatment Information
The ATEC provides a free, convenient tool that can be used to track changes over time. The checklist can also be useful to help determine whether a therapy is beneficial. To track a specific approach, complete the ATEC before (baseline) and after implementing a treatment and track changes over time. For more than 50 years, the Autism Research ...
Comprehensive Management of Autism: Current Evidence
Abstract. Autism is a neurodevelopmental disorder characterized by impaired social interaction, verbal and nonverbal communication, and restricted repetitive behavior. The goals of treatment are to target core behaviors, improve social interactions and communication, and reduce disruptive behavior. The present paper discusses the role of ...
Met investigates 'stem-cell autism cure' claim
Prof Declan Murphy, a leading figure in autism research at King's College London, told the BBC any stem-cell injection "should not be offered" as a cure for autism.
Treatment and Intervention for Autism Spectrum Disorder
A notable behavioral treatment for people with ASD is called applied behavior analysis (ABA). ABA encourages desired behaviors and discourages undesired behaviors to improve a variety of skills. Progress is tracked and measured. Two ABA teaching styles are discrete trial training (DTT) and pivotal response training (PRT).
An Update on Psychopharmacological Treatment of Autism Spectrum
Non-pharmacological (Behavioral) Interventions. In 1987, Lovaas published an article which introduced a new treatment approach describing a significant improvement of IQ scores and educational functioning in almost 50% of children with ASD [].Also known as The Lovaas Method of Applied Behavior Analysis, and subsequently as discrete trial training (DTT), it is an intensive, highly structured ...
For adults, autism diagnosis can unlock a new life
In many cases, waiting lists for evaluations and assessments can be anywhere from six months to two years long, and adult autism evaluations can cost anywhere from $3,800 to $5,800, according to ...
Study shows heightened sensitivity to PTSD in autism
May 9, 2024. Source: University of Queensland. Summary: A new study shows that a mild stress is enough to trigger post-traumatic stress disorder (PTSD) in mouse models of autism spectrum disorder ...
Western researchers' breakthrough paves way for ALS cure
The new gift by the Temerty Foundation brings the family's total investment in neurodegenerative disease research at Western to $18 million. "Dr. Strong's relentless dedication to his field is matched only by the Temerty family's deep desire to make a difference for the thousands of people around the world diagnosed with this devastating ...
Awareness, diagnostic changes led to rise in autism rates
The claim: National Childhood Vaccine Injury Act linked to increase in autism rates. A May 11 Instagram post ( direct link, archive link) shows a graph that depicts a decades-long rise in the rate ...

Autism cures may be closer as focus turns to early treatment

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Study opens the door to designing therapies to improve lung development in growth-restricted fetuses

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Introduction

Non-pharmacological (Behavioral) Interventions

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A Potential Cure for Autism: New Research Finds That Gene Therapy Could Treat Pitt-Hopkins Syndrome

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