autism research studies

• About Autism
• Is It Autism?
• Starting Intervention
• Prenatal Factors
• Autism Assessment Tools
• Diagnostic Checklist
• Autism Treatment Evaluation Checklist (ATEC)
• Understanding and Treating Self-Injurious Behavior Tool
• Autism Support
• Expert Webinars
• Newly Diagnosed
• Studies Seeking Participants
• ARI-Funded Research Studies 2023
• ARI Think Tanks
• Participate in Studies
• ARI-Funded Research By Year
• Mission Statement
• Board of Directors
• Scientific Advisory Board
• National Autism History Museum Hours
• ARI's Latest Accomplishments
• Annual Reports
• Financials - Audit Reports/990s
• Donate Cryptocurrency
• Donate Stock/Mutual Funds

Autism Research Review International

ARI’s award-winning quarterly journal helps you stay up-to-date with the latest developments in biomedical and educational research.

available for free online | one-year print subscription

ARI’s award-winning quarterly journal helps you stay up-to-date with developments in autism research

ARI donors support research that has practical application in the evolution of autism understanding and the lives of autistic people. Last fall, ARI awarded more than $400,000 in grants to fund research on evidence-based therapeutic interventions and underlying biological mechanisms.

We work to advance the biological understanding of autism. Whether you’re an autistic individual, parent, professional, or researcher, we’re here to connect you with information you need.

Understanding Autism

Is it autism.

Learn early signs and prevalence of autism—and other ARI resources for understanding developmental disorders.

Symptoms of Autism

Learn more about the physical and behavioral symptoms associated with autism spectrum disorder.

Screening & Assessment

Explore information, research and tools available for support with autism screening and assessment needs.

Explore resources, research and tools for best care and treatment practices to help individuals with autism.

Education & Support

For autistic individuals, for parents & care providers, for clinicians & therapists, for researchers, help us support autism research and education, recent & upcoming webinars.

Disordered Eating and Autism – Obesity

autismAdmin 2024-06-05T14:39:19-05:00 October 23rd, 2024 |

Caregiver Strategies for Building Infant Social Interaction

autismAdmin 2024-06-24T15:39:22-05:00 October 9th, 2024 |

Emerging Findings: Pediatric Acute Neuropsychiatric Syndrome

autismAdmin 2024-06-17T15:37:46-05:00 October 2nd, 2024 |

Wellbeing Wins: Integrating Positive Psychology into the Autism Community

autismAdmin 2024-08-16T11:41:39-05:00 September 25th, 2024 |

Get News & Updates from the Autism Research Institute 

• * First Last
• Phone This field is for validation purposes and should be left unchanged.

Autism News & Editorials

ARI’s Latest Annual Report and Impact

autismAdmin 2024-08-27T12:54:07-05:00 August 27th, 2024 |

The Low-Hanging Fruit: Exploring Monogenic Syndromes with Elevated Rates of Autism

autismAdmin 2024-08-07T10:37:37-05:00 July 15th, 2024 |

Gender, Sexuality, and Autism

autismAdmin 2024-08-07T10:38:10-05:00 July 12th, 2024 |

Autism and Trauma

autismAdmin 2024-08-07T10:39:44-05:00 July 8th, 2024 |

Privacy Overview

Our groundbreaking research makes meaningful and lasting improvements in the quality of life for autistic individuals and their families.

Our interdisciplinary team includes neurobiologists, computer engineers, data scientists, psychiatrists, psychologists, and physicians. We are conducting groundbreaking research to create more accurate and scalable methods of early detection, improve and disseminate therapies, test new interventions, and make new discoveries in genetic and molecular science.

Our research discoveries meaningfully impact autistic individuals throughout the lifespan and play a pivotal role in reducing global healthcare inequities and increasing access to proven therapies worldwide. We are an NIH Autism Center of Excellence and part of the multi-site NIH Autism Biomarkers Consortium for Clinical Trials, the largest autism research study in NIH history.

Current Studies

Research Registry

Get our Newsletter

Creating accurate, scalable tools for early detection & intervention monitoring

A collaborative team of neurobiologists, computer engineers, data scientists, and psychologists have created a digital app to track behaviors such as attention span, motor skills, emotional expressiveness, vocalizing, and interest in social cues.

Using computer vision analysis and machine learning, the team has published research showing that the app detects early signs of autism in toddlers and is now testing the same tool in Duke Primary Care clinics with infants as young as six months. The app allows precision in measuring changes in behavior, providing a more reliable, sensitive tool for measuring improvement in clinical trials.

Harnessing artificial intelligence to guide physicians

The Duke University Health System sees nearly 3,000 patients on the autism spectrum each year. The center’s data scientists and clinicians are applying artificial intelligence, such as machine learning and natural language processing, to Duke patients’ electronic health records to determine whether information collected during routine health care visits could alert physicians to patients who may develop neurodevelopmental disorders.

The same methods are being used to better understand variations in lifelong health trajectory for autistic individuals or developmental conditions, helping medical providers anticipate unique health needs and customize patient care.

Unveiling how genetic mutations affect synaptic pathways

A center team of molecular biologists, neurobiologists, and neuropsychopharmacologists are using animal models and state-of-the-art technologies, such as CRISPR, to help understand how genetic mutations impact synaptic pathways in the brain, affecting speech, social and communication skills.

Using novel techniques developed at Duke, the team is developing a deeper understanding of how rare gene mutations affect brain function, setting the stage for finding new treatments to improve quality of life.  

Adapting & disseminating therapies to reduce disparities in access to treatment

Proven behavioral therapy methods developed by center investigators, such as the Early Start Denver Model, can have a significant impact on outcomes for those on the autism spectrum. Yet, for many people in low-resource communities in the U.S. and worldwide, these therapies are out of reach. Center investigators are assessing whether effective caregiver coaching can be delivered via telehealth and by non-specialist providers.

Another study is extending methods that were originally developed for young children to school-age children. These studies could open the door to greater access to scientifically proven therapies for those living in socio-economically disadvantaged and rural communities worldwide.

Exceptional People. Extraordinary Discoveries.

Current Research Studies

SARRC’s Research Department is committed to identifying best practices for autism spectrum disorder (ASD) screening, diagnosis, and intervention, but we cannot do it alone. We look to individuals impacted by autism and their families to participate in our current research projects. Our research program utilizes rigorous research methods and is informed by the needs, preferences, and values of the community that we serve. Note: A stipend may be provided to cover the cost of time and travel.

EarliPoint™ Diagnostics Research Study »

This study will examine if a new investigational medical device called the EarliPoint™ Evaluation for Autism Spectrum Disorder (ASD), can be used to diagnose autism in children ages 31-84 months. The device detects the presence and severity of ASD and related developmental delays.

The EarliPoint™ Evaluation for ASD (the device) tracks where children are looking as they watch videos on a screen, which shows us how typically developing children and children with autism visually explore the world differently. This study is looking at whether the device can give comparable results to current diagnostic tests performed by clinicians.

Learn more »

First Place Transition Academy Outcomes Evaluation Study »

SARRC is currently enrolling adults with autism ages 18 and older to participate in a study that aims to compare the outcomes of 100 autistic adults who are currently enrolled or who are graduates of the First Place Transition Academy in Phoenix. Participants will help our team improve programs, services and interventions for teens and adults with autism.

Learn more »

IRIS Study »

In the IRIS research study, we are looking to find out whether an investigational drug might improve the symptoms of ASD that often make social interaction challenging. To qualify, participants must be 18 to 45 years of age; have a diagnosis of autism spectrum disorder (ASD) have a relative, housemate, friend, or another study partner to assist during the study, and attend clinic visits.

Leucovorin Study »

SARRC is currently enrolling individuals between the ages of 2.5-5 years with ASD in the Leucovorin Study to assess the efficacy of an investigational natural treatment known as Levoleucovorin in enhancing language and social communication skills in children diagnosed with ASD.  The 16-week clinical trial will help our team learn more about language and social communication in children with autism.

SPARK for Autism »

The Simons Foundation Autism Research Initiative is offering SPARK—an online, long-term study of genetics and autism. SPARK will collect and analyze genetic samples (saliva) from all participants to help autism researchers learn about genetic and non-genetic causes of autism. SPARK is open to all individuals with a professional diagnosis of autism, as well as their parents. Participation can take place either in your home via a mail-in kit or at SARRC.

Stanford-Only View

Stanford Autism Center

Autism research studies at stanford, study title/ age ,                 description, spark (simons powering autism research) study.

If you or your child has a professional diagnosis of autism, Stanford University invites you to learn more about SPARK, a new online research study sponsored by the Simons Foundation Autism Research Initiative. The mission of SPARK is clear: speed up research and advance understanding of autism by creating the nation’s largest autism study. Joining SPARK is simple – register online and provide a DNA sample via a saliva collection kit in the comfort of your own home. Together, we can help spark a better future for all individuals and families affected by autism.

Register in person at Stanford University by contacting us at  [email protected]  or online at  www.sparkforautism.org/stanford .

Targeting the neurobiology of restricted and repetitive behaviors in children with autism using N-acetylcysteine: Randomized Controlled Trial

3-12 Years  

We are recruiting children with autism spectrum disorder to participate in a research study at Stanford University. Our goal is to examineth effects of N-acetyl cysteine, an over-the-counter dietary supplement, on the brain circuits that underlie some restricted and repetitive behaviors.   

To be elligible for this trial, your child must:

• be aged between 3 and 12 years old
• exhibit restricted and repetitive behaviors
• be willing to drink N-acetyl cysteine dissolved in water
• be willing to undergo brain scanning with magnetic resonance imaging (MRI)
• be willing to undergo brain scanning with electroencephalography (EEG)

The study will take place at Stanford University over 12-to-16-week period. Our safety protocols have been updated for COVID-19 and many research activities will be completed remotely using Zoom and virtual surveys. Your child must be willing to:

• complete cognitive and behvaiorial assessments (such as IQ tetsing)
• be able to either sleep (young children) or lie still in the scanner during an MRI
• tolerate wearing an EEG cap
• drink N-acetyl cysteine dissolved in water for a total of 12-week period

For Participant inquiries contact: [email protected]

Autism Center of Excellence Sleep Study

8-17 Years  

Dear Parents,

We are excited to tell you about a new research study for children. We are looking to partner with parents who have children that are between the ages of 4 and 17 years old,  with and without  an Autism Spectrum Disorder (ASD) diagnosis.

What is involved?

• In-person cognitive and behavioral assessments
• Day-time Electroencephalogram (EEG)
• In-home, 2 night sleep monitoring session
• Collection of saliva to measure cortisol and melatonin levels
• Wearing a watch device that tracks sleep and daily activity

What will I receive if I participate?

• Research sleep report and behavioral testing summary upon request
• $50 for each in-person visit to Stanford and $100 for the 2 night in-home sleep assessment

Treatment extension study:

• If your child has ASD, sleep difficulties, and ages 8-17, they may also qualify for sleep medication trials

Interested in participating or want to learn more?  Click Here!

If you would like to reach out to our team directly with any questions, please contact our team below!

Email:  [email protected]

650-498-7215

Neuroimaging Predictors of Improvement to Pivotal Response Treatment (PRT) in Young Children With Autism

Stanford University researchers are recruiting children with autism to identify brain imaging predictors of benefits from Pivotal Response Treatment (PRT) targeting language abilities.

In order to participate in this research study, your child must:

• Be between the ages of 2 and 4 years
• Be able to complete an MRI of the brain during natural sleep
• Participate in a 16-week parent training program
• Meet inclusion based on testing.

Vasopressin Treatment Trial for Children with Autism

6 - 17 years

The purpose of this clinical trial is to investigate the effectiveness of vasopressin nasal spray for treating symptoms associated with autism. Vasopressin is a hormone that is produced naturally within the body and has been implicated in regulating social behaviors. It has been proposed that administration of the hormone may also help improve social functioning in individuals with autism.

Link to study at clinicaltrials.gov

Pregnenolone Randomized Controlled Trial

14 - 21 years

Neurosteroid Pregnenolone Treatment for Irritability in Adolescents with Autism

Medication treatments for core symptoms of autism spectrum disorder (ASD) continue to be unmet medical needs. The only medications approved by the U.S. Food and Drug Administration (FDA) for the treatment of individuals with ASD are effective in treating irritability and associated aggressive behaviors, but these medications can also cause severe long-term side effects such as diabetes and involuntary motor movements. Therefore, effective medications with more tolerable side effect profiles are highly desirable. This profile is consistent with pregnenolone (PREG). PREG belongs to a new class of hormones known as neurosteroids, which have been shown to be effective in treating various psychiatric conditions including bipolar depression and schizophrenia. As compared to currently FDA-approved medications, our preliminary data suggested that PREG may represent a potentially effective and well-tolerated agent for treating irritability in individuals with ASD. In addition, our experience suggests that PREG might be helpful in improving selected core symptoms such as social deficits and sensory abnormalities of ASD. This study provides the opportunity to further explore the usefulness of PREG in the treatment of irritability and some core symptoms of ASD. We are performing a 12-week randomized double-blind controlled pilot trial to examine the effectiveness of orally administered PREG in reducing irritability and associated behaviors in adolescents with ASD. In this study, we also aim to examine the usefulness of biomarkers (blood levels of neurosteroids, eyetracking and brain wave recording) in predicting treatment response and assessing biologic changes with PREG treatment.

Study Flyer 

Link to study in Stanford's Clinical Trials Directory

Helpful Links

• Development-Behavioral Pediatrics at Stanford Children's Health
• Divison of Child & Adolescent Psychiatry and Child Development

• Copy/Paste Link Link Copied

Find a Study on Autism

Select one of the following links to get ClinicalTrials.gov search results for studies on autism spectrum disorder (ASD):

• All NICHD clinical trials on ASD
• All ClinicalTrials.gov trials on ASD

Autism Spectrum Disorders Linked to Neurotransmitter Switching in the Brain

Neurobiologists provide new understanding of the origin of environmentally triggered autistic behavior

• Mario Aguilera - [email protected]

Published Date

Share this:, article content.

Autism spectrum disorders (ASD) involve mild to severe impairment of social, behavioral and communication abilities. These disorders can significantly impact performance at school, in employment and in other areas of life. However, researchers lack knowledge about how these disorders emerge at early stages of development.

University of California San Diego neurobiologists have found evidence of altered development of the nervous system in mouse models of autism spectrum disorders. They linked environmentally induced forms of ASD to changes in neurotransmitters, the chemical messengers that allow neurons to communicate with each other. They also discovered that manipulating these neurotransmitters at early stages of development can prevent the appearance of autistic-like behaviors.

The study is published August 23, 2024, in the Proceedings of the National Academy of Sciences.

“In seeking the root causes of autism spectrum disorder behaviors in the brain, we found an early change in neurotransmitters that is a good candidate to be the primary cause,” said School of Biological Sciences Professor Nicholas Spitzer of the Department of Neurobiology and Kavli Institute for Brain and Mind. “Getting a handle on the early events that trigger ASD may allow development of new forms of intervention to prevent the appearance of these behaviors.”

ASD diagnoses have been ramping up in recent years, but how these disorders manifest at the critical cellular and molecular levels has not been well understood.

The study’s lead author, Assistant Project Scientist Swetha Godavarthi, and colleagues investigated neurotransmitter expression in the medial prefrontal cortex, a brain area often affected in individuals diagnosed with ASD. They tested the hypothesis that changes in the type of neurotransmitter expressed by neurons in the prefrontal cortex could be responsible for a chemical imbalance that causes ASD-like behaviors.

{/exp:typographee}

Neurotransmitter switching: Mouse models highlight excitatory neurons (red cells) that express the neurotransmitter glutamate while inhibitory neurons (green cells) express the neurotransmitter GABA. Yellow arrowheads indicate inhibitory neurons that have switched their neurotransmitter from GABA to glutamate.

Previous studies had shown an increase in the incidence of ASD in offspring when pregnant women had a heightened immune response or were exposed to certain drugs during the first trimester (environmental forms of ASD). The researchers reproduced ASD in mice by administering mice in utero with these environmental agents. These agents caused the brief loss of the “GABA” neurotransmitter, which is inhibitory, and the gain of the “glutamate” neurotransmitter, which is excitatory, in neonatal mice. Although this GABA-to-glutamate transmitter switch reversed spontaneously after a few weeks, adult mice exhibited altered behaviors of repetitive grooming and diminished social interaction. Overriding this brief early transmitter switch in neonatal mice prevented the development of these autistic-like behaviors in adults.

“Driving expression of GABA in the neurons that have replaced GABA with glutamate prevents the appearance of stereotyped repetitive behavior and reduced social interaction,” said Spitzer. “These findings demonstrate that changing electrical activity and inappropriately exciting neurons at early stages of development can alter the assembly of the nervous system.”

Alterations in neurotransmitter expression at an early stage of development carry implications for other behavioral issues at later stages in life, since the rest of the nervous system is then built upon a platform of defective wiring, similar to a house constructed on an unstable foundation.

In seeking the root causes of autism spectrum disorder behaviors in the brain, we found an early change in neurotransmitters that is a good candidate to be the primary cause.

“Neurotransmitter switching can change the assembly of the nervous system and have a profound impact downstream,” said Spitzer.

The researchers say the new results are consistent with other evidence that altering signaling in the nervous system during the early stages of development can later carry negative consequences as the brain matures.

Authors of the paper include: Swetha Godavarthi, Hui-quan Li, Marta Pratelli and Nicholas Spitzer. The Overland Foundation provided funding for the research.

You May Also Like

Borderzone breakthrough: a new source of cardiac inflammation, uc san diego’s mandeville art gallery receives grant from new york-based teiger foundation, climate crisis survey reveals scientists’ willingness to act – and barriers to action, closing the rna loop holds promise for more stable, effective rna therapies, stay in the know.

Keep up with all the latest from UC San Diego. Subscribe to the newsletter today.

You have been successfully subscribed to the UC San Diego Today Newsletter.

Campus & Community

Arts & culture, visual storytelling.

• Media Resources & Contacts

Signup to get the latest UC San Diego newsletters delivered to your inbox.

Award-winning publication highlighting the distinction, prestige and global impact of UC San Diego.

Popular Searches: Covid-19   Ukraine   Campus & Community   Arts & Culture   Voices

An official website of the United States government

The .gov means it’s official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

• Publications
• Account settings

Preview improvements coming to the PMC website in October 2024. Learn More or Try it out now .

• Advanced Search
• Journal List
• Transl Pediatr
• v.9(Suppl 1); 2020 Feb

Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation

Holly hodges.

1 Department of Pediatrics, Baylor College of Medicine and Meyer Center for Developmental Pediatrics, Texas Children’s Hospital, Houston, TX, USA;

Casey Fealko

2 Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA;

Neelkamal Soares

3 Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. There have been recent concerns about increased prevalence, and this article seeks to elaborate on factors that may influence prevalence rates, including recent changes to the diagnostic criteria. The authors review evidence that ASD is a neurobiological disorder influenced by both genetic and environmental factors affecting the developing brain, and enumerate factors that correlate with ASD risk. Finally, the article describes how clinical evaluation begins with developmental screening, followed by referral for a definitive diagnosis, and provides guidance on screening for comorbid conditions.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors ( 1 ). In 2013, the Diagnostic and Statistical Manual of Mental Disorders —5 th edition (DSM-5) was published, updating the diagnostic criteria for ASD from the previous 4 th edition (DSM-IV) ( Table 1 ) ( 1 , 2 ).

ASD, autism spectrum disorder; SPCD, social (pragmatic) communication disorder.

In DSM-5, the concept of a “spectrum” ASD diagnosis was created, combining the DSM-IV’s separate pervasive developmental disorder (PDD) diagnoses: autistic disorder, Asperger’s disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS), into one. Rett syndrome is no longer included under ASD in DSM-5 as it is considered a discrete neurological disorder. A separate social (pragmatic) communication disorder (SPCD) was established for those with disabilities in social communication, but lacking repetitive, restricted behaviors. Additionally, severity level descriptors were added to help categorize the level of support needed by an individual with ASD.

This new definition is intended to be more accurate and works toward diagnosing ASD at an earlier age ( 3 ). However, studies estimating the potential impact of moving from the DSM-IV to the DSM-5 have predicted a decrease in ASD prevalence ( 4 , 5 ) and there has been concern that children with a previous PDD-NOS diagnosis would not meet criteria for ASD diagnosis ( 5 - 7 ). There are varying reports estimating the extent of and effects of this change. One study found that with parental report of ASD symptoms alone, the DSM-5 criteria identified 91% of children with clinical DSM-IV PDD diagnoses ( 8 ). However, a systematic review suggests only 50% to 75% of individuals maintain diagnoses ( 9 ) and other studies have also suggested a decreased rate of diagnosis of individuals with ASD under the DSM-5 criteria ( 10 ). Often those who did not meet the requirements were previously classified as high functioning Asperger’s syndrome and PDD-NOS ( 11 , 12 ). Overall, most studies suggest that the DSM-5 provides increased specificity and decreased sensitivity compared to the DSM-IV ( 5 , 13 ); so while those diagnosed with ASD are more likely to have the condition, there is a higher number of children whose ASD diagnosis is missed, particularly older children, adolescents, adults, or those with a former diagnosis of Asperger’s disorder or PDD-NOS ( 14 ). Nevertheless, the number of people who would be diagnosed under the DSM-IV, but not under the new DSM-5 appears to be declining over time, likely due to increased awareness and better documentation of behaviors ( 4 ).

It has yet to be determined how the new diagnosis of SPCD will impact the prevalence of ASD. One study found the new SPCD diagnosis encompasses those individuals who possess subthreshold autistic traits and do not qualify for a diagnosis of ASD, but who still have substantial needs ( 15 ). Furthermore, children who previously met criteria for PDD-NOS under the DSM-IV might now be diagnosed with SPCD.

Epidemiology

The World Health Organization (WHO) estimates the international prevalence of ASD at 0.76%; however, this only accounts for approximately 16% of the global child population ( 16 ). The Centers for Disease Control and Prevention (CDC) estimates about 1.68% of United States (US) children aged 8 years (or 1 in 59 children) are diagnosed with ASD ( 6 , 17 ). In the US, parent-reported ASD diagnoses in 2016 averaged slightly higher at 2.5% ( 18 ). The prevalence of ASD in the US more than doubled between 2000–2002 and 2010–2012 according to Autism and Developmental Disabilities Monitoring Network (ADDM) estimates ( 6 ). Although it may be too early to comment on trends, in the US, the prevalence of ASD has appeared to stabilize with no statistically significant increase from 2014 to 2016 ( 19 ). Changing diagnostic criteria may impact prevalence and the full impact of the DSM-5 diagnostic criteria has yet to be seen ( 17 ).

Insurance mandates requiring commercial plans to cover services for ASD along with improved awareness have likely contributed to the increase in ASD prevalence estimates as well as the increased diagnosis of milder cases of ASD in the US ( 6 , 20 , 21 ). While there was only a modest increase in prevalence immediately after the mandates, there have been additional increases later as health care professionals better understood the regulatory and reimbursement process. The increase in prevalence may also be due to changes in reporting practices. One study in Denmark found the majority of increase in ASD prevalence from 1980–1991 was based on changes of diagnostic criteria and inclusion of outpatient data, rather than a true increase in ASD prevalence ( 21 ).

ASD occurs in all racial, ethnic, and socioeconomic groups, but its diagnosis is far from uniform across these groups. Caucasian children are consistently identified with ASD more often than black or Hispanic children ( 6 ). While the differences appear to be decreasing, the continued discrepancy may be due to stigma, lack of access to healthcare services, and a patient’s primary language being one other than English.

ASD is more common in males ( 22 , 23 ) but in a recent meta-analysis ( 24 ), true male-to-female ratio is closer to 3:1 than the previously reported 4:1, though this study was not done using the DSM-5 criteria. This study also suggested that girls who meet criteria for ASD are at higher risk of not receiving a clinical diagnosis. The female autism phenotype may play a role in girls being misdiagnosed, diagnosed later, or overlooked. Not only are females less likely to present with overt symptoms, they are more likely to mask their social deficits through a process called “camouflaging”, further hindering a timely diagnosis ( 25 ). Likewise, gender biases and stereotypes of ASD as a male disorder could also hamper diagnoses in girls ( 26 ).

Several genetic diagnoses have an increased rate of co-occurring ASD compared to the average population, including fragile X, tuberous sclerosis, Down syndrome, Rett syndrome, among others; however, these known genetic disorders account for a very small amount of overall ASD cases ( 27 - 30 ). Studies of children with sex chromosome aneuploidy describe a specific social functioning profile in males that suggests more vulnerability to autism ( 22 , 23 , 31 , 32 ). With the increased use of chromosomal microarray, several sites (chromosome X, 2, 3, 7, 15, 16, 17, and 22 in particular) have proven to be associated with increased ASD risk ( 28 ).

Other risk factors for ASD include increased parental age and prematurity ( 33 - 35 ). This could be due to the theory that older gametes have a higher probability of carrying mutations which could result in additional obstetrical complications, including prematurity ( 36 ).

ASD is a neurobiological disorder influenced by both genetic and environmental factors affecting the developing brain. Ongoing research continues to deepen our understanding of potential etiologic mechanisms in ASD, but currently no single unifying cause has been elucidated.

Neuropathologic studies are limited, but have revealed differences in cerebellar architecture and connectivity, limbic system abnormalities, and frontal and temporal lobe cortical alterations, along with other subtle malformations ( 28 , 37 , 38 ). A small explorative study of neocortical architecture from young children revealed focal disruption of cortical laminar architecture in the majority of subjects, suggesting problems with cortical layer formation and neuronal differentiation ( 39 ). Brain overgrowth both in terms of cortical size and additionally in terms of increased extra-axial fluid have been described in children with ASD and are areas of ongoing study both in terms of furthering our understanding of its etiology, but also as a potential biomarker ( 40 , 41 ).

Genetic factors play a role in ASD susceptibility, with siblings of patients with ASD carrying an increased risk of diagnosis when compared to population norms, and a much higher, although not absolute, concordance of autism diagnosis in monozygotic twins ( 42 - 44 ).

Genome wide association studies and whole exome sequencing methods have broadened our understanding of ASD susceptibility genes, and learning more regarding the function of these genes can shed light on potential biologic mechanisms ( 45 ). For example candidate genes in ASD include those that play a role in brain development or neurotransmitter function, or genes that affect neuronal excitability ( 46 , 47 ). Many of the genetic defects associated with ASD encode proteins that are relevant at the neuronal synapse or that are involved in activity-dependent changes in neurons, including regulatory proteins such as transcription factors ( 42 , 48 ). Potential “networks” of ASD genetic risk convergence include pathways involved in neurotransmission and neuroinflammation ( 49 ). Transcriptional and splicing dysregulation or alterations in epigenetic mechanisms such as DNA methylation or histone acetylation and modification may play a role ( 42 , 49 - 51 ). A recent study describes 16 newly identified genes associated with ASD that raise new potential mechanisms including cellular cytoskeletal structure and ion transport ( 52 ). Ultimately, ASD remains one of the most genetically heterogeneous neuropsychiatric disorders with rarer de novo and inherited variants in over 700 genes ( 53 ).

While genetics clearly play a role in ASD’s etiology, phenotypic expression of genetic susceptibility remains extremely variable within ASD ( 54 ). Genetic risk may be modulated by prenatal, perinatal, and postnatal environmental factors in some patients ( 35 ). Prenatal exposure to thalidomide and valproic acid have been reported to increase risk, while studies suggest that prenatal supplements of folic acid in patients exposed to antiepileptic drugs may reduce risk ( 55 - 57 ). Research has not confirmed if a small positive trial of folinic acid in autism can be used to recommend supplementation more broadly ( 58 ). Advanced maternal and paternal age have both been shown to have an increased risk of having a child with ASD ( 59 ). Maternal history of autoimmune disease, such as diabetes, thyroid disease, or psoriasis has been postulated, but study results remain mixed ( 60 , 61 ). Maternal infection or immune activation during pregnancy is another area of interest and may be a potential risk factor according to recent investigations ( 62 - 65 ). Both shorter and longer inter-pregnancy intervals have also been reported to increase ASD risk ( 66 ). Infants born prematurely have been demonstrated to carry a higher risk for ASD in addition to other neurodevelopmental disorders ( 34 ). In a prior epidemiologic review, obstetric factors including uterine bleeding, caesarian delivery, low birthweight, preterm delivery, and low Apgar scores were reported to be the few factors more consistently associated with autism ( 67 ). A recent meta-analysis reported several pre, peri and postnatal risk factors that resulted in an elevated relative risk of ASD in offspring ( 35 ), but also revealed significant heterogeneity, resulting in an inability to make true determination regarding the importance of these factors.

Despite the hysteria surrounding the now retracted Lancet article first published in 1998, there is no evidence that vaccines, thimerosal, or mercury is associated with ASD ( 68 - 70 ). In the largest single study to date, there was not an increased risk after measles/mumps/rubella (MMR) vaccination in a nationwide cohort study of Danish children ( 70 ).

Ultimately, research continues to reveal factors that correlate with ASD risk, but no causal determinations have been made. This leaves much room for discovery with investigators continuing to elucidate new variants conveying genetic risk, or new environmental correlates that require further study ( 52 ).

Evaluation in ASD begins with screening of the general pediatric population to identify children at-risk or demonstrating signs suggestive of ASD, following which a diagnostic evaluation is recommended. The American Academy of Pediatrics (AAP) guidelines recommend developmental surveillance at 9, 15 and 30 months well child visits and autism specific screening at 18 months and again at 24 or 30 months ( 28 , 71 ). Early red flags for ASD include poor eye contact, poor response to name, lack of showing and sharing, no gesturing by 12 months, and loss of language or social skills. Screening tools for ASD in this population include the Modified Checklist for Autism in Toddlers, Revised, with Follow-up (M-CHAT-R/F) and Survey of Wellbeing of Young Children (SWYC) ( 72 , 73 ). Red flags in preschoolers may include limited pretend play, odd or intensely focused interests, and rigidity. School age children may demonstrate concrete or literal thinking, have trouble understanding emotions, and may even show an interest in peers but lack conversational skills or appropriate social approach. If there is suspicion of ASD in these groups, screening tools available include the Social Communication Questionnaire (SCQ), Social Responsiveness Scale (SRS), and Autism Spectrum Screening Questionnaire (ASSQ) ( 74 - 76 ).

If concerns are raised at screening, primary care clinicians are recommended to refer the child to early intervention if less than 3 years of age or to the public school system for psychoeducational evaluation in order to establish an individual education program (IEP) if the child is three years of age or older. Clinicians should additionally refer the child to a specialist (pediatric neurologist, developmental-behavioral pediatrician, child psychiatrist, licensed child psychologist) for a definitive diagnosis and comprehensive assessment ( 71 ). A comprehensive assessment should include a complete physical exam, including assessment for dysmorphic features, a full neurologic examination with head circumference, and a Wood’s lamp examination of the skin. A parent interview, collection of any outside informant observations, and a direct clinician observation of the child’s current cognitive, language, and adaptive functioning by a clinician experienced with ASD should be components of this comprehensive assessment. ( 28 , 71 , 77 , 78 ).

Additionally, primary care clinicians need to be aware of (and evaluate for) potential co-occurring conditions in children with ASD. According to a surveillance study of over 2,000 children with ASD, 83% had an additional developmental diagnosis, 10% had at least one psychiatric diagnosis, and 16% at least one neurologic diagnosis ( 79 ). In the past, rates of co-morbid intellectual disability (ID) in patients with ASD were reported from 50% to 70%, with the most recent CDC estimate reported at 31.0% (26.7% to 39.4%) with ID defined as intelligence quotient (IQ) ≤70 ( 6 , 80 ). Other common co-occurring medical conditions include gastrointestinal (GI) disorders, including dietary restrictions and food selectivity, sleep disorders, obesity, and seizures ( 81 - 84 ). Studies using electronic health record (EHR) analysis revealed prevalence of epilepsy ~20% and GI disorders [without inflammatory bowel disease (IBD)] at 10–12% ( 82 ). Epilepsy has been shown to have higher prevalence rates in ASD with comorbid ID and medical disorders of increased risk such as tuberous sclerosis complex (TSC) ( 85 - 87 ). GI disorders or GI symptomatology, including diarrhea, constipation, restrictive eating, or reflux, have been shown to be prominent in ASD across multiple studies ( 81 , 82 , 88 , 89 ). Sleep problems have been reported to occur in anywhere from 50% to 73% of patients with ASD with variation in prevalence dependent on the definition of sleep symptoms or the measurement tool used ( 90 - 92 ). Rates of overweight and obesity in ASD are reported to be roughly 33% and 18% respectively, higher than rates in typically developing children ( 81 - 84 , 93 ).

Other behavioral or psychiatric co-occurring conditions in ASD include anxiety, attention deficit/hyperactivity disorder (ADHD), obsessive compulsive disorder, and mood disorders or other disruptive behavior disorders ( 81 ). Rates of co-occurring ADHD are reported anywhere from 25% to 81% ( 81 , 94 ). A recent meta-analysis of 30 studies measuring rates of anxiety and 29 studies measuring rates of depression reported a high degree of heterogeneity from the current literature, but stated pooled lifetime prevalence for adults with ASD to be 42% for any anxiety disorder and 37% for any depressive disorder, though the use of self-report measures and the presence of ID could influence estimates ( 95 ). In children with ASD seeking treatment, the rate of any anxiety disorder was found to be similar at 42% and in addition this study reported co-morbid oppositional defiant disorder at a rate of 46% and mood disorders at 8%, with 66% of the sample of over 600 patients having more than one co-occurring condition ( 94 ).

Currently no clear ASD biomarkers or diagnostic measures exist, and the diagnosis is made based on fulfillment of descriptive criteria. In light of a relatively high yield in patients with ASD, clinical genetic testing is recommended and can provide information regarding medical interventions or work up that might be necessary and help with family planning ( 96 ). The American College of Medical Genetics and Genomics (ACMGG) guidelines currently recommend chromosomal microarray for all children, fragile X testing in males, and additional gene sequencing, including PTEN and MECP2 , in certain patients as first tier genetic testing in the work up of ASD ( 97 ). High resolution G-banded karyotype, once recommended for all patients with ASD, is no longer routinely indicated based on recent consensus recommendations, but might still be performed in patients with a family or reproductive history suggestive of chromosomal rearrangements or specific syndromes such as sex chromosome anomalies or Trisomy 21 ( 96 - 98 ). Several professional societies recommend genetic testing for ASD, including the American Academy of Neurology, the AAP, ACMGG, and the American Academy of Child and Adolescent Psychiatry, and a child may require further referral to a geneticist and/or genetic counselor, depending on results of testing ( 25 , 28 , 97 , 99 ). As the field of genetics continues to advance rapidly, recent publications suggest whole exome sequencing may become the preferred method for clinical genetic testing in individuals with ASD ( 100 , 101 ).

Aside from genetic testing, no other laboratory work up is routinely recommended for every patient with a diagnosis of ASD. However, further evaluation may be appropriate for patients with particular findings or risk factors. Metabolic work-up should be considered in patients with any of the following concerning symptoms or signs: a history of clear developmental regression including loss or plateau of motor skills; hypotonia; recurrent episodes of vomiting, lethargy or hypoglycemia; microcephaly or poor growth; concern for other organ involvement; coarse features; or concern for seizures or ataxia. Based on the patient’s history and presentation, components of a metabolic laboratory evaluation could include complete blood count (CBC), liver and renal function tests, lactate, pyruvate, carnitine, amino acids, an acylcarnitine profile, urine organic acids and/or urine glycosaminoglycans ( 97 , 102 ). Children with a history of pica should have a lead level measured ( 28 , 103 ). In a child with significantly restricted food intake, one should consider a laboratory evaluation of nutritional status. Sleep symptoms may warrant a referral for a possible sleep study, and if restless sleep symptoms are present, an evaluation for iron deficiency is not unreasonable, particularly if dietary rigidity limits iron intake ( 104 ).

Neuroimaging is not routinely recommended for every patient with ASD ( 28 , 99 ), but may be appropriate in patients with a suspicion for TSC or other neurocutaneous disorders, microcephaly, or an abnormal neurologic exam (spasticity, severe hypotonia, unilateral findings). Patients with suspected seizures should have an electroencephalography (EEG) obtained ( 102 ). If accessible, it might be appropriate to immediately refer children with concern for further genetic, metabolic or neurologic conditions to a specialist who can then obtain and interpret the aforementioned testing. At this time there is inadequate evidence to recommend routine testing for celiac disease, immunologic or neurochemical markers, mitochondrial disorders, allergy testing, hair analysis, intestinal permeability studies, erythrocyte glutathione peroxidase studies, stool analysis, urinary peptides or vitamin and mineral deficiencies without a history of severe food selectivity.

ASD is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. Recent changes to the diagnostic criteria occurred with the transition to the new diagnostic manual (DSM-5) and will likely impact prevalence, which currently stands at 1 in 59 children in the US. ASD is a neurobiological disorder influenced by both genetic and environmental factors affecting the developing brain. Research continues to reveal factors that correlate with ASD risk and these findings may guide further etiologic investigation, but no final causal pathway has been elucidated. Clinical evaluation begins with developmental screening of the general pediatric population to identify at-risk children, followed by referral to a specialist for a definitive diagnosis and comprehensive neuropsychological assessment. Children with ASD should also be screened for common co-morbid diagnoses. While no clear biomarkers or diagnostic measures exist, clinical genetic testing is recommended as part of the initial medical evaluation. Further medical work up or subspecialist referrals may be pursued based on specific patient characteristics.

Acknowledgments

Funding: None.

Ethical Statement : The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Conflicts of Interest : The authors have no conflicts of interest to declare.

• Alzheimer's disease & dementia
• Arthritis & Rheumatism
• Attention deficit disorders
• Autism spectrum disorders
• Biomedical technology
• Diseases, Conditions, Syndromes
• Endocrinology & Metabolism
• Gastroenterology
• Gerontology & Geriatrics
• Health informatics
• Inflammatory disorders
• Medical economics
• Medical research
• Medications
• Neuroscience
• Obstetrics & gynaecology
• Oncology & Cancer
• Ophthalmology
• Overweight & Obesity
• Parkinson's & Movement disorders
• Psychology & Psychiatry
• Radiology & Imaging
• Sleep disorders
• Sports medicine & Kinesiology
• Vaccination
• Breast cancer
• Cardiovascular disease
• Chronic obstructive pulmonary disease
• Colon cancer
• Coronary artery disease
• Heart attack
• Heart disease
• High blood pressure
• Kidney disease
• Lung cancer
• Multiple sclerosis
• Myocardial infarction
• Ovarian cancer
• Post traumatic stress disorder
• Rheumatoid arthritis
• Schizophrenia
• Skin cancer
• Type 2 diabetes
• Full List »

share this!

August 28, 2024

This article has been reviewed according to Science X's editorial process and policies . Editors have highlighted the following attributes while ensuring the content's credibility:

fact-checked

peer-reviewed publication

trusted source

Collaborative research cracks the autism code, making the neurodivergent brain visible

by Jennifer McManamay, University of Virginia

A multi-university research team co-led by University of Virginia engineering professor Gustavo K. Rohde has developed a system that can spot genetic markers of autism in brain images with 89 to 95% accuracy.

Their findings suggest that doctors may one day see, classify and treat autism and related neurological conditions with this method, without having to rely on or wait for behavioral cues. And that means this truly personalized medicine could result in earlier interventions.

"Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first approach could transform understanding and treatment of autism," the researchers wrote in a paper published in the journal Science Advances .

Rohde, a professor of biomedical and electrical and computer engineering, collaborated with researchers from the University of California San Francisco and the Johns Hopkins University School of Medicine, including Shinjini Kundu, Rohde's former Ph.D. student and first author of the paper.

While working in Rohde's lab, Kundu—now a physician at the Johns Hopkins Hospital—helped develop a generative computer modeling technique called transport-based morphometry, or TBM, which is at the heart of the team's approach.

Using a novel mathematical modeling technique, their system reveals brain structure patterns that predict variations in certain regions of the individual's genetic code—a phenomenon called "copy number variations," in which segments of the code are deleted or duplicated. These variations are linked to autism.

TBM allows the researchers to distinguish normal biological variations in brain structure from those associated with the deletions or duplications.

"Some copy number variations are known to be associated with autism, but their link to brain morphology—in other words, how different types of brain tissues, such as gray or white matter , are arranged in our brain—is not well known," Rohde said. "Finding out how CNV relates to brain tissue morphology is an important first step in understanding autism's biological basis."

How TBM cracks the code

Transport-based morphometry is different from other machine-learning image analysis models because the mathematical models are based on mass transport—the movement of molecules such as proteins, nutrients and gases in and out of cells and tissues. "Morphometry" refers to measuring and quantifying the biological forms created by these processes.

Most machine learning methods, Rohde said, have little or no relation to the biophysical processes that generate the data. They rely instead on recognizing patterns to identify anomalies.

But Rohde's approach uses mathematical equations to extract the mass transport information from medical images, creating new images for visualization and further analysis.

Then, using a different set of mathematical methods, the system parses information associated with autism-linked CNV variations from other "normal" genetic variations that do not lead to disease or neurological disorders—what the researchers call "confounding sources of variability."

These sources previously prevented researchers from understanding the "gene-brain-behavior" relationship, effectively limiting care providers to behavior-based diagnoses and treatments.

According to Forbes magazine, 90% of medical data is in the form of imaging, which we don't have the means to unlock. Rohde believes TBM is the skeleton key.

"As such, major discoveries from such vast amounts of data may lie ahead if we utilize more appropriate mathematical models to extract such information."

The researchers used data from participants in the Simons Variation in Individuals Project, a group of subjects with the autism-linked genetic variation.

Control-set subjects were recruited from other clinical settings and matched for age, sex, handedness and non-verbal IQ while excluding those with related neurological disorders or family histories.

"We hope that the findings, the ability to identify localized changes in brain morphology linked to copy number variations, could point to brain regions and eventually mechanisms that can be leveraged for therapies," Rohde said.

Additional co-authors are Haris Sair of the Johns Hopkins School of Medicine and Elliott H. Sherr and Pratik Mukherjee of the University of California San Francisco's Department of Radiology.

Explore further

Feedback to editors

Certain diabetes drugs may reduce risk of dementia, Korean study reveals

5 hours ago

New insights into the pathogenesis of amyotrophic lateral sclerosis

6 hours ago

Small RNAs found to boost immune response to tuberculosis

Medication may stop migraines before headache starts, study shows

7 hours ago

Study reveals molecular mechanism behind multiple sclerosis and other autoimmune diseases

8 hours ago

Autistic traits, behavioral problems in 7-year-olds linked with gender nonconforming play

9 hours ago

People with mild cases of mental ill-health may be perceived differently depending on presence of diagnostic labels

New pancreatic cancer treatment proves effective in shrinking, clearing tumors

Study finds unhealthy commodities—like alcohol and social media—are connected with poor mental health

Donating a kidney is even safer now than long thought, US study shows

10 hours ago

Related Stories

Study connects genetic risk for autism to changes observed in the brain

May 24, 2024

Study identifies new metric for diagnosing autism

Apr 17, 2024

Artificial intelligence tool detects sex-related differences in brain structure

May 14, 2024

Genetic factors contributing to connection issues for white matter in the human brain discovered

Feb 20, 2023

Researchers identify altered functional brain connectivity in autism subtypes

Dec 5, 2023

Study links organization of neurotypical brains to genes involved in autism and schizophrenia

May 11, 2024

Recommended for you

New findings on tuberculosis could change how we treat inflammatory disorders

11 hours ago

A cellular community in the brain drives Alzheimer's disease, large-scale analysis reveals

Human endometrial map uncovers hidden health clues

14 hours ago

Epigenetics blood markers can help understand dementia risk

Discovery gives answers to parents of children with rare neurological gene mutation

Aug 27, 2024

Let us know if there is a problem with our content

Use this form if you have come across a typo, inaccuracy or would like to send an edit request for the content on this page. For general inquiries, please use our contact form . For general feedback, use the public comments section below (please adhere to guidelines ).

Please select the most appropriate category to facilitate processing of your request

Thank you for taking time to provide your feedback to the editors.

Your feedback is important to us. However, we do not guarantee individual replies due to the high volume of messages.

E-mail the story

Your email address is used only to let the recipient know who sent the email. Neither your address nor the recipient's address will be used for any other purpose. The information you enter will appear in your e-mail message and is not retained by Medical Xpress in any form.

Newsletter sign up

Get weekly and/or daily updates delivered to your inbox. You can unsubscribe at any time and we'll never share your details to third parties.

More information Privacy policy

Donate and enjoy an ad-free experience

We keep our content available to everyone. Consider supporting Science X's mission by getting a premium account.

E-mail newsletter

• Reaching beyond MIT
• Targeted Projects
• Postdoctoral Fellowship Research
• Seed Grants
• Technology Hubs
• Investigators
• Postdoctoral Fellows
• Simons Postdoctoral Fellows: In their own words
• Simons Center MSRP Summer students
• Targeted Project Funding
• Postdoctoral Fellowship Funding
• SCSB Events Overview
• Colloquium Series
• Lunch Series
• ‘UnrulyArt’ Program
• Special Events
• Event Recordings
• Past Colloquium Series Speakers
• Past Lunch Series Speakers
• Past Special Events
• SCSB Newsletters
• Support Our Research
• Participate in Research

MIT Center Improves Understanding of Autism and the Social Brain

Like many big ideas, the  Simons Center for the Social Brain  started with conversation.

In 2003, Jim and Marilyn Simons approached leaders at MIT looking for scientists studying autism. At the time, Mriganka Sur was chair of MIT’s department of brain and cognitive sciences, so he gathered a crew of scientists who, like him, studied brain development and plasticity to talk with the philanthropists.

“We were all basic scientists there,” Sur says. “We study fundamental mechanisms of how the brain develops, how it works, how it changes. Jim and Marilyn understood that fundamental science is critical to understanding disorders of brain development and function, including autism.”

That meeting led to Sur’s first foray into autism re-search through a five-year project with funding from the Simons Foundation. The project, which made essential discoveries about Rett syndrome — a neurodevelopmental condition that shares some features with autism — ultimately expanded into the Simons Center for the Social Brain (SCSB), which launched in 2012. By then, foundation funding came via the new  Simons Foundation Autism Research Initiative (SFARI) , launched in 2005. The SCSB is one of only two research centers supported by SFARI.

The SCSB was founded on the principle that understanding the science of social behavior is essential to understanding autism. Many aspects of human social interaction differ between autistic and neurotypical people — communication through language; interpretation of facial expressions; how we share information through indirect means such as idiom or tone of voice.

“We decided that to really understand autism writ broadly, we needed to understand the inputs, outputs, circuits and components of the social brain,” says Sur, who is now the SCSB’s director.

The center is also founded on the principle of collaboration. Research is organized into ‘targeted projects’ led by teams of faculty members at MIT or other Boston-area universities, each of which tackles a different aspect of a large problem within autism research. Currently, three targeted projects are ongoing, and six have been completed.

One of the center’s first projects produced insights into a genetic alteration that is a risk factor for autism, the 16p11.2 microdeletion, in which a small piece of chromosome 16 is missing. SCSB researchers found that children with this genetic change have, among other behavioral changes, a specific speech disorder — childhood apraxia of speech. Other researchers involved in the project found molecular changes in the brains of a mouse model of the genetic change and determined that the drug R-baclofen can address these deficits in mice. These findings later informed the design of a clinical trial of R-baclofen for autism spectrum disorders led by Clinical Research Associates, an affiliate of the Simons Foundation.

A current SCSB project studies the immune system’s largely unappreciated impact on the social brain, stemming from anecdotal reports that fevers can change social behavior in autistic children and that severe infections during pregnancy increase the risk of autism in the child. Several years ago,  Gloria Choi , an associate professor of brain and cognitive science at MIT, and  Jun Huh , an associate professor of immunology at Harvard Medical School, discovered that the signaling molecule IL-17 underlies both of these immune-related phenomena.

The connection between the immune system and the social brain may have developed for a reason, Choi says. Our brains likely evolved to respond to immune system activation with specific behavior changes that promote healing — like resting, decreased appetite and isolation to limit the spread of infections.

“The fact that we have this opportunity to bring together scientists with very different areas of expertise, all coming together to tackle one problem, that in itself is just amazing.”Gloria Choi

Through previous SFARI-funded work, Choi and Huh showed that treatment with IL-17 ameliorated autism-like behaviors in mouse models of the condition. Now, through a targeted project led by Choi, a team of four laboratory groups at the SCSB is delving deeper into the immune system’s ties to autism. The researchers are also working to deliver immune molecules to the brain in a targeted way and to understand which cells and circuits in the brain are affected by IL-17. They’re keeping their eyes on the goal: to use the natural power of the immune system to help some people living with autism spectrum disorders.

“The fact that we have this opportunity to bring together scientists with very different areas of expertise, all coming together to tackle one problem, that in itself is just amazing,” Choi says.

Another targeted project at the center, led by Evelina Fedorenko, an associate professor of neuroscience at MIT, is looking at autism and the social brain through the lens of language. Four research teams are studying human communication by investigating how nonverbal visual and auditory cues convey information and how these cues may be processed differently in autistic and neurotypical adults; how regions of the brain that process voices, language and facial expressions interact with each other; how language first develops in the brains of toddlers; and even how to improve nonliteral understanding in computational models of language such as ChatGPT. Together, the teams are working to unlock the mysteries of communication to better understand how communication changes in autism spectrum disorders.

“It can be really hard to get support for research that straddles disciplines and domains, but the Simons Center is a real catalyst for this kind of work,” Fedorenko says. “By encouraging us to work together and bring in expertise from different domains, it will lead to insights that you couldn’t get if you’re working in individual silos.”

The SCSB is also dedicated to training the next generation of scientists — ones with a collaboration mindset. Since the center’s inception, it has run a successful postdoctoral fellowship program in which each fellow receives research funding from the center and is mentored by two faculty members. About half of the 50 fellows who have finished the program have gone on to faculty positions.

Anila D’Mello , an assistant professor of psychiatry at the University of Texas Southwestern Medical Center, is a former SCSB postdoctoral fellow who later received a SFARI Bridge to Independence award in 2022. Her work at the SCSB focused on how the brain adapts to familiar images or words over time; she found that adults with autism spectrum disorders showed less adaptation, specifically, to images of faces. The fellowship was an incredible way to launch her independent academic research career, D’Mello says.

“The funding is amazing, of course, but the really crucial part is that you become part of this community of people who are like-minded in their research, all approaching the problem using different modalities and models,” she says.

Share Options

• Share to Facebook
• Share to Linkedin

UVA Research Cracks the Autism Code, Making the Neurodivergent Brain Visible

Model Grounded in Biology Reveals the Tissue Structures Linked to the Disorder

A multi-university research team co-led by University of Virginia engineering professor Gustavo K. Rohde has developed a system that can spot genetic markers of autism in brain images with 89 to 95% accuracy. 

Their findings suggest doctors may one day see, classify and treat autism and related neurological conditions with this method, without having to rely on, or wait for, behavioral cues. And that means this truly personalized medicine could result in earlier interventions.

“Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first approach could transform understanding and treatment of autism,” the researchers wrote in a paper published June 12 in the journal Science Advances.

Rohde, a professor of biomedical and electrical and computer engineering, collaborated with researchers from the University of California San Franscisco and the Johns Hopkins University School of Medicine, including Shinjini Kundu, Rohde’s former Ph.D. student and first author of the paper.

While working in Rohde’s lab, Kundu — now a physician at the Johns Hopkins Hospital — helped develop a generative computer modeling technique called transport-based morphometry, or TBM, which is at the heart of the team’s approach.

Using a novel mathematical modeling technique, their system reveals brain structure patterns that predict variations in certain regions of the individual’s genetic code — a phenomenon called “copy number variations,” in which segments of the code are deleted or duplicated. These variations are linked to autism.

TBM allows the researchers to distinguish normal biological variations in brain structure from those associated with the deletions or duplications.

“Some copy number variations are known to be associated with autism, but their link to brain morphology — in other words, how different types of brain tissues such as gray or white matter, are arranged in our brain — is not well known,” Rohde said. “Finding out how CNV relates to brain tissue morphology is an important first step in understanding autism’s biological basis.”

How TBM Cracks the Code

Transport-based morphometry is different from other machine learning image analysis models because the mathematical models are based on mass transport — the movement of molecules such as proteins, nutrients and gases in and out of cells and tissues. “Morphometry” refers to measuring and quantifying the biological forms created by these processes.

Most machine learning methods, Rohde said, have little or no relation to the biophysical processes that generated the data. They rely instead on recognizing patterns to identify anomalies.

But Rohde’s approach uses mathematical equations to extract the mass transport information from medical images, creating new images for visualization and further analysis.

Then, using a different set of mathematical methods, the system parses information associated with autism-linked CNV variations from other “normal” genetic variations that do not lead to disease or neurological disorders — what the researchers call “confounding sources of variability.” 

 Major discoveries from such vast amounts of data may lie ahead if we utilize more appropriate mathematical models to extract such information.

These sources previously prevented researchers from understanding the “gene-brain-behavior” relationship, effectively limiting care providers to behavior-based diagnoses and treatments.

According to Forbes magazine , 90% of medical data is in the form of imaging, which we don’t have the means to unlock. Rohde believes TBM is the skeleton key.

“As such, major discoveries from such vast amounts of data may lie ahead if we utilize more appropriate mathematical models to extract such information.”

The researchers used data from participants in the Simons Variation in Individuals Project, a group of subjects with the autism-linked genetic variation.

Control-set subjects were recruited from other clinical settings and matched for age, sex, handedness and non-verbal IQ while excluding those with related neurological disorders or family histories.

“We hope that the findings, the ability to identify localized changes in brain morphology linked to copy number variations, could point to brain regions and eventually mechanisms that can be leveraged for therapies,” Rohde said.

Publication

Discovering the gene-brain-behavior link in autism via generative machine learning was published online June 12, 2024, in Science Advances for the June 14 edition. 

Additional co-authors are Haris Sair of the Johns Hopkins School of Medicine and Elliott H. Sherr and Pratik Mukherjee of the University of California San Francisco’s Department of Radiology.

The research received funding from the National Science Foundation, National Institutes of Health, Radiological Society of North America and the Simons Variation in Individuals Foundation.

• Communicational and emotional effects of technology

Aug 23, 2024 | Active study , Research

The purpose of this study is to investigate how technology influences individuals with autism.

WHO: Individuals with an autism diagnosis older than 16 years old

Researcher: Gabriella Waters

Questions?  [email protected]

Recent Posts

• Neurodiversity Workshops Hosted by UMD Faculty
• ADOS-2 Clinical Training: December 11 & 13, 2024
• Physiological aspects of anxiety in autistic and nonautistic adolescents
• Perspectives on inclusive education and neurodiversity

Recent Comments