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Autism | Overview

Infant Screening Project

  • PI: Charles A. Nelson, PhD
  • Participants: We are currently recruiting infants between the ages of 12-36 months old.

The main goal of this study is to map early development and identify infants at risk for developing an Autism Spectrum Disorder and/or language and communication difficulties. By screening early and learning more about neural and behavioral functioning, we aim to improve techniques for early identification and intervention.

For participation details, please visit the Nelson Lab site or email

GAMES Project (Gaming for Autism to Mold Executive Skills)

  • PI: Susan Faja, PhD
  • Participants: We are currently recruiting children between the ages of 7-11 years old with an ASD diagnosis

In this study, we aim to investigate executive control difficulties in children with Autism Spectrum Disorders. This project will also hope to determine whether computer-training tasks developed to enhance the executive control skills of typically developing preschoolers and school-aged children are appropriate for children with ASD. We will also be looking at the potential social benefits of this type of training for children with ASD.

For participation details, please visit the Faja Laboratory site or email

Gender Exploration of Neurogenetics and Development to Advance Autism Research

  • PI: Charles A. Nelson, PhD
  • Participants: Children between the ages of 8 to 17 years old that fit into one of these three groups:
  1. Children who have an ASD diagnosis
  2. Children who are typically developing with a sibling with an ASD diagnosis
  3. Children who are typically developing without a sibling with an ASD diagnosis

The current study is part of the Autism Center of Excellence (ACE Network) which includes researchers from Yale University, UCLA, the University of Washington, and Boston Children's Hospital. The purpose of this study is to identify gender differences in brain structure, function, connectivity, and genetics in children and adolescents with autism spectrum disorders (ASD). Currently, autism spectrum disorders affect more males than females. Research indicates that males are 15 times more likely to be diagnosed with ASD. By learning more about these gender differences, we aim to improve techniques for diagnosis and interventions. In order to thoroughly investigate the questions we are asking, we will be using a variety of methods: neuropsychological testing, EEG, fMRI and a genetics portion. For this study, we will be enrolling three groups of children: children diagnosed with an ASD, siblings of children with an ASD diagnosis, and typically developing children without a brother or sister with an ASD.

For full participation details, click here or email

ASD and Tuberous Sclerosis Complex - JASPER Intervention

  • PI: Charles A. Nelson, PhD
  • Participants: Infants between 12-36 months of age who have a clinical diagnosis of TSC

Infants with Tuberous Sclerosis Complex (TSC) are at high risk for neurodevelopmental disabilities, including autism spectrum disorder (ASD) and intellectual disability (ID). In a recent prospective study of infants with TSC, we found that as early as 6 months of age, infants demonstrated delays in non-verbal behaviors critical for the development of social communication skills, and that by 12 months these delays generalized to both verbal and non-verbal cognition. Moreover, a decline in non-verbal cognition over the second two years of life predicted the development of ASD. Based on this clear evidence of early delays, we propose to investigate whether a behavioral intervention can improve social communication skills in infants with TSC, with the overarching goal of lessening symptomatology related to ASD.

For full participation details, email

ASD and Tuberous Sclerosis Complex

  • PI: Charles A. Nelson, PhD
  • Participants: Typically developing infants 3 to 12 months of age who have no history of pre or postnatal difficulties, and infants with TSC from 3 to 24 months of age

Together with the University of California, Los Angeles, we are investigating the development of Tuberous Sclerosis Complex (TSC), a genetic disorder. Up to 60% of children with TSC develop autism, but often the diagnosis is not made until much later in childhood. Our aim is to identify pathways to earlier identification of autism spectrum disorders, which leads to earlier interventions and, hopefully, better behavioral outcomes.

Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in either the TSC1 or TSC2 genes. TSC is characterized by the widespread growth of benign, tumor-like nodules called hamartomas in multiple organ systems, including the brain. It is strongly associated with cognitive impairment, behavioral disturbances, and autism spectrum disorders (ASD), and these neurodevelopmental disorders can cause significant disability from early infancy through adulthood. Cognitive impairment has been reported in 44-80% of individuals with TSC, ranging from learning disabilities to more profound intellectual impairment.

We are using behavioral tests as well as measures of the brain’s electrical response to faces to characterize the development of children with and without TSC and evaluate their risk for autism. We will follow infants from age three months through age three, at which time they will be evaluated for autism concerns. We will then determine if any early abnormalities in behavior and face processing can predict autism in these infants.

For full participation details, click here or email

The Infant Sibling Project

**We apologize, we are not currently enrolling participants for this study

The goal of this project is to identify risk markers for autism spectrum disorders (ASD) that may be present during the first few months of life, before a diagnosis of ASD is currently possible. If we can move diagnosis back to the first year of life, then early intervention, which is known to have a significant positive impact on children with these disorders, can begin much earlier than is currently possible. Because we are interested in developmental changes in both brain and behavior, this study is longitudinal and involves multiple visits to the Labs of Cognitive Neuroscience up until age two, and a follow up visit at age three. We also ask that families maintain a home diary to help us track their baby's development.

For full participation details, click here.

Phenotypic and Genetic Factors in Autism Spectrum Disorder (ASD)

The purpose of this project is to examine possible environmental and genetic factors that could contribute to Autism Spectrum Disorder (ASD). The true causes of ASD are still poorly understood and studies are needed to try and elucidate possible reasons for ASD. To investigate this research goal we collect cognitive, behavioral and developmental information from study participants by using a variety of standardized questionnaires and tests. We also collect genetic and biometric information as well as a detailed medical history of each ASD participant. All of this information is gathered during an approximately eight hour visit here at Boston Children’s Hospital. With this study, we hope to further the understanding of ASD and its causes with the hope to improve upon diagnoses and treatments.

Parent Perception of Meaningful Outcomes in Autism Spectrum Disorder: A Pilot Study

  • PI: Marie Reilly, MD; Justin Schwartz, MD
  • Participants: Parents of children aged 2-18 years old with ASD

We propose a qualitative study to explore parental perspectives regarding meaningful health outcomes, including quality of life, in children diagnosed with ASD. Specific aims are: 1) To elicit parent perspectives regarding meaningful health outcomes in children with ASD, 2) To identify family-centered ASD health outcomes amenable for outcome measure development, 3) To propose candidate outcome measures for children with ASD.

For more information, please contact Justin Schwartz.

Children's Attention to Overheard Speech

  • PI: Rhiannon Luyster, PhD
  • Participants: Children aged 2-5 with or without Autism Spectrum Disorders. Children must be capable of producing 2-word utterances (e.g., 'more juice', 'go outside').

Parents will complete a brief screening process prior to enrollment (generally completed over the phone). If a child is eligible for participation, a 2-hour visit will be scheduled in our lab. Upon arrival, parents will complete a set of questionnaires about their child. Children will complete some activities to measure their communication, problem-solving and play skills. Finally, children will play with toys with our friendly experimenters (including watching two experimenters engage in conversation about some of the toys) and then answer some questions about the toys. Free parking will be provided, and children will receive a small thank-you gift.

For participation details, please visit the Nelson Lab site or email Rhiannon Luyster.