GEMMA (Genome, Environment, Microbiome, and Metabolome in Autism)

The GEMMA (Genome, Environment, Microbiome, and Metabolome in Autism) project aims to understand the many factors that contribute to the development of autism in children who have an autistic sibling.

What are the goals of the study?

The GEMMA project aims to understand how genes, the environment, gut bacteria, and the digestion of food may relate to the development of autism.

What will happen during the visit or online?

  1. Online surveys about food, health, and behavior,
  2. Behavioral assessments (on Zoom) every 6 months from ages 1 to 3,
  3. Periodic saliva, urine, stool, and blood samples (done at home/locally) until age 3,
  4. One time samples from one or both biological parents and from the sibling with ASD

How will this help families?

Your family will be contributing to research that aims to help improve the early diagnosis of autism, as well as understand the GI symptoms associated with autism. All infant participants will receive early developmental assessments from study psychologists.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior. Given the lack of specific pharmacological therapy for ASD and the clinical heterogeneity of the disorder, researchers at The Johnson Center and the University of Texas Southwestern are undertaking an ASD biomarker study with the goal of identifying biomarkers for determining ASD risk and developing potential therapeutic interventions.

This study may help with identifying ASD risk in very young children so that interventions and therapies can begin as early as possible – this is critical for ensuring the best developmental outcome. We will use machine learning (AI) to identify therapeutic targets that may help with addressing ASD-specific behaviors.

What are the goals of the study?

The purpose of this study is to identify biomarkers of ASD that correlate with behavioral and developmental phenotypes in order to:
1) develop and test biomarker profiles that form a diagnostics tool;
2) screen and identify children with ASD who might benefit from specific interventions; and 3) develop and test biomarker profiles that inform an instrument for monitoring therapeutic response to medical interventions; and improve the clinical well-being of affected children and increase our knowledge base of this disorder.

What will happen during the visit or online?

Your participation will require two parts:

i) Completion of 4 online questionnaires that can be done from home.

ii) Visiting a Lab Service Center, such as Quest, Lab Corp or CPL, near your home for your child to give a small blood sample.

Compensation of $125 is provided upon completion of the study.

How will this help families?

The biomarkers we identify may assist in the development of therapeutic interventions for targeted treatments for autism.

Six-to-ten year old children with autism spectrum disorders are invited to participate in a fun study, which involves wearing an actigraphy watch for two weeks (to estimate the quality and other characteristics of the child’s sleep) and participation in one MRI session at SDSU Imaging Center. Both children and parents are asked to keep sleep diaries for the two weeks when the child is wearing the actigraphy watch. Finally, children are asked to take part in a brief cognitive testing session. The study aims to understand the links between sleep (problems) and brain development in children with autism.

What are the goals of the study?

This study aims to understand potential mechanisms underlying sleep disturbances in autism.

What will happen during the visit or online?

Children will be asked to wear an actigraphy watch for two weeks, keep sleep diaries, take part in one MRI scan, and complete a brief behavioral assessment session.

How will this help families?

Sleep problems affect 50-80% of individuals with autism and can have cascading effects on development, everyday function, and quality of life. However, the mechanisms underlying sleep disturbances in ASD are not understood. A better insight into the potential mechanisms of sleep disturbances in autism may ultimately help with developing new treatments targeting sleep in children with autism.

Dr. Eggebrecht and researchers at Washington University in St. Louis are mapping brain function in children with autism spectrum disorder with diffuse optical tomography.

What are the goals of the study?

Dr. Eggebrecht and researchers at Washington University in St. Louis aim to investigate brain function underlying development in children who have or are at risk for developing Autism Spectrum Disorder.

What will happen during the visit or online?

Children will complete a 1-hour brain imaging scan and developmental testing at Washington University School of Medicine in St. Louis. Parents will complete online and phone surveys from home. Families will be compensated $25/hour for their participation.

How will this help families?

We hope that, in the future, society may benefit from study results which increase our understanding of typical and altered development of brain function. We hope that in the future, optical imaging will complement the current brain imaging technologies in the management of a variety of patient populations.

The genetic changes we study in TIGER3 have been connected with autism and developmental disabilities, but we are just beginning to learn how those changes might affect each person and family differently, and what effects might be shared versus unique across those genetic variants. By learning more about the shared and unique effects of these rare variants, we aim to contribute to (1) better understanding of co-occurring medical and behavioral conditions, and (2) development of individualized supports for affected individuals and their families.

What are the goals of the study?

In the TIGER research study, we are learning more about individuals with genetic events associated with autism spectrum disorder (ASD), intellectual disability (ID), and/or developmental delay (DD). We hope to better understand and describe how different gene changes influence the development, behavior, and experiences of children and adults. Individuals with these genetic changes may have neurodevelopmental differences that we would like to better understand.

What will happen during the visit or online?

Eligible families participate in a consent phone call, and are then invited to complete a series of video- or phone calls to assess for autism-associated features, adaptive skills, cognitive skills, and medical history. Caregivers are also invited to complete a variety of online questionnaires, including measures of adaptive behavior, treatment history, sleep habits, gastrointestinal symptoms, social-emotional functioning, and executive function. Biospecimen (blood or saliva) collection is completed remotely. Finally, families are offered a feedback session with a clinician and a written report of standardized measures and recommendations.

How will this help families?

Families will be compensated $100 for their participation. Participants may receive feedback about their family’s genetic event(s). Families will also receive written and/or verbal feedback regarding adaptive behavior, social communication skills, language skills, and cognitive skills as available from completed study activities.

By learning more about how the ASD brain in children, we can help establish ways to identify and intervene in ASD early. If ASD is identified at young ages, resources such as social supports can bolster long-term adaptive functioning in children with ASD. Also, increased understanding about the mechanisms that underlie atypical social functioning in ASD will allow science to develop targeted, effective assistance for these youth as early as possible.

What are the goals of the study?

This project aims to further understand what makes the brains of children with autism spectrum disorder (ASD) unique. Specifically, this study is interested in helping us understand how neural processes in the developing ASD brain contribute to atypical social functioning. A promising new method of assessing brain activity called “phase-amplitude coupling” will be measured via non-invasive electroencephalogram (EEG) technology.

What will happen during the visit or online?

Both children who do and do not have ASD will be invited to participate in an EEG, play computer games during the EEG, and fill out self-report questionnaires with the help of a trained researcher. Parents of participating children will also fill out related surveys. This study is comprised of two visits spaced out over several months.

How will this help families?

Increased understanding about the mechanisms that underlie atypical social functioning in ASD will allow science to develop targeted, effective assistance for these youth as early as possible.

Social interaction during early childhood is a critical component of development. This project explores these interactions during play among children with and without autism spectrum disorder to better understand how children learn to engage with their environment and the people around them. The results of this project may lend itself to improving early screening, diagnosis, and intervention processes for young children with autism spectrum disorder and their families.

What are the goals of the study?

The goal of this project is to explore the early visual experiences of children during social play with their parents and how these interactions may influence different aspects of their development, such as language and cognition.

What will happen during the visit or online?

You and your child will be asked to play with a set of toys for approximately 5 minutes while wearing head-mounted eye-trackers. Depending on your child’s age, your child will also be asked to complete: the ADOS-2 (a gold-standard autism diagnostic test; 12mo and older), an IQ test (12mo and older), a motor assessment (18mo or younger), and/or two vocabulary tests (30mo or older).

How will this help families?

Families will receive a free summary of their child’s assessment results (autism diagnosis, vocabulary, motor skills, and/or Q) along with an Amazon gift card, family passes to the Children’s Museum of Houston, and a gift-bundle (toys, books, crayons, T-shirt, etc). We hope this project will ultimately assist in improving early screening, diagnosis, and intervention processes for infants and toddlers that may have autism spectrum disorder.

While there have been large-scale genetic analyses of autism spectrum disorder, there have been little efforts to investigate this in Hispanics and Latina/Latino populations (henceforth Latinx), the largest minority population in the United States. Inclusion of under-represented populations in genetic studies is important both for scientific reasons and for equity. The genetic architecture of ASD is complex and ongoing efforts to decipher it have focused on both common and rare genetic variants and investigating whether the genetic architecture differs across ancestral populations is important in order to have informed care and risk factors for underrepresented groups.

What are the goals of the study?

The central purpose of this project is to collect genetic and phenotypic information about childhood psychiatric conditions, with the aim of finding links between core symptoms, cognitive ability, and underlying neurobiological mechanisms. To better understand and investigate the genetic risk for autism spectrum disorder (ASD) in people through observation of its genetic architecture across ancestral populations. Specifically, we aim to further our understanding of ASD in Hispanic/Latinx populations, the largest minority population in the U.S. and an admixed population.

What will happen during the visit or online?

Participating in the study typically requires two in-person visits, one for an autism evaluation and one for IQ testing and DNA Collection. The DNA Collection can either be a blood draw or saliva collection; we collect DNA from the person affected with ASD and two biological family members. Furthermore, there is a zoom interview between a clinician and parent for our children participants and online forms that must be filled out. Families will be compensated $100 and will receive a report of the assessments completed.

How will this help families?

Families will be able to receive a report of all assessments done and receive compensation. Receiving an appointment for an autism evaluation and updated reports can often take several months to years, while here it takes a couple of weeks. Our reports can be often used for school or to apply to additional services. Adding on, our coordinator speaks Spanish which can often aid families that don’t speak English and helps remove that barrier to care. Furthermore, this will help families in the future by investigating risk factors in the development of ASD which can help inform clinical care for diverse populations.

This program supports data collection and sharing that will expand and improve medical research. By generating the most comprehensive Data Collection Program for these conditions, we can increase research and accelerate the development of new drugs, devices, or other therapies. Participating families will also have the ability to connect with other patient organizations, be contacted to participate in emerging clinical trials (if eligible), and manage how their data is used.

What are the goals of the study?

The RARE-X Data Collection Program makes data collection free, accessible and easy for communities, while ensuring the data collected is as useful and shareable as possible for researchers and others working on treatments. Our goal is to enable families to easily collect and access their data and empower them to become data stewards and sharers. This program helps create a robust data set that can be shared to accelerate diagnosis, disorder understanding, and drug and therapy development.

What will happen during the visit or online?

Participants will be asked to create a secure, password-protected account and provide their consent to participate. Participants will then have the chance to answer a set of questions (survey) regarding the patient’s health history, development, and treatment and care. Additional surveys will be added over time and participants will be notified of future surveys relevant to them. Participants will also have the opportunity to upload genetic test results related to the disorder diagnosis.

How will this help families?

Participation in this program may…

  • Contribute to further research leading to the development of treatments
  • Provide patients the opportunity to participate in clinical trials
  • Help you learn more about the disorder, leading to better advocacy in medical, education, and social services
  • Inform patients/families about the progression of the disorder and how they may compare with other patients

We are one site as part of a nationwide study, the Infant Brain Imaging Study (IBIS). Our team develops and implements advanced neuroimaging methods and tools to study the structural and functional features of the brain, to better understand the neurobiology of autism.

What are the goals of the study?

This study seeks to understand the key differences and similarities in brain development between infants whose siblings do and do not have autism.

What will happen during the visit or online?

Participants will be asked to make 3 visits to CHOP over time to complete cognitive and behavioral testing and a non-invasive MRI. Participants will be compensated for their time and receive a written feedback report.

How will this help families?

We study brain structure and function that are thought to support skills and behaviors related to autism, including social communication, repetitive behaviors, and co-occurring conditions of anxiety, ADHD and language impairment.

You will be paid for your time and travel expenses. You will also be given a written report and receive personalized feedback on your child at each visit. If your infant develops autism, we will assist you in finding services in your community. There is no cost to participate in the study and no insurance needed.

What are the goals of the study?

The goal of this study is to track the early development of infants with an older sibling, so we can better understand how autism develops.

What will happen during the visit or online?

You and your child will make 2-4 visits to CHOP’s Robert’s Center for Pediatric Research. We will observe as you and your child play with various toys, puzzles, and interactive items such as bubbles and balloons. Caregivers will answer questions about their children’s development and past medical history. Using these observations and questionnaires, we will assess your child’s language, motor, and social development when your child is one and again when he/she turns two. We will also provide an expert autism evaluation when your child turns two years old.

How will this help families?

CAR researchers are focused on understanding the very earliest signs of autism, in order to use that knowledge to help families access evaluations and services as early as possible.

What are the goals of the study?

The purpose of this research study is to examine relationships between brain and behavior development in toddlers with and without autism who have older siblings.

What will happen during the visit or online?

Your participation would involve you coming to the Center for Autism Research at CHOP in Philadelphia with your toddler.

There are four parts involved in your participation:

  1. A remote video call interview with you and our study’s clinical psychologist.
  2. Online questionnaires which you will complete on your own time on any internet device.
  3. A behavioral evaluation of your toddler. For this part, you will first visit the Center for Autism Research with just you and your toddler. After this behavior evaluation, we will schedule a follow-up video call with you, where the psychologist will inform you about the testing results.
  4. If your child meets our criteria, we will ask you to return for an MRI scan of your toddler’s brain while they sleep.

You will be compensated for your time and effort dedicated to the study and you will be reimbursed for your travel expenses to CHOP.

How will this help families?

A focus on the earliest signs of autism is critical for families, so that children can access services and supports as early as possible. CAR researchers are using neuroimaging methods to identify brain signatures in children starting from 6 months of age onward that might be associated with autism in children with and without a family history of autism.