Infant Screening Project

Brief Description
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.

Participation Details
This study involves five visits to the Laboratories of Cognitive Neuroscience lasting 3-4 hours each. Visits will be scheduled for: 3, 12, 18, 24, and 36 months (outcome visit). These visits can be scheduled at your convenience during the day or the weekend. All sessions are held at our lab in the Longwood Medical Area.

Research Contact: ISP@childrens.harvard.edu

Full Description
The Infant Screening Project is a collaborative project between Boston Children’s Hospital and Boston University that studies the development of language and social behavior in babies. The purpose 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 to evaluate potential biological identifiers related to social ability and to learn more about neural and behavioral functioning, we aim to improve techniques for early identification and intervention. In order to thoroughly investigate the questions we are asking we’ll be using a variety of methods including; clinical, behavioral, electrophysiological (EEG/ERP) assessments for both children with autism and typical controls. Parents will also be asked to fill out a variety of questionnaires over the four visits in order to collect data about their child’s development.

Neural Markers of Fragile X Syndrome

Brief Description
The purpose of this study is to improve our understanding of how differences in brain activity affect learning, language, and behavior in children with Fragile X Syndrome (FXS). Currently there is no effective treatment for FXS and nearly half of all individuals meet criteria for Autism Spectrum Disorder (ASD). Our goal is to find brain markers that predict cognitive, language, and behavioral difficulties in two overlapping neurodevelopmental disorders — FXS and ASD — and to better understand differences in brain activity between children with and without FXS.

Eligibility for Study Participation

  • Boys or girls 32-84 months old with a diagnosis of Fragile X Syndrome based on full mutation of the FMR1 gene.
  • Boys or girls 32-84 months old with an autism spectrum disorder diagnosis
  • Boys or girls 32-84 months old who are typically developing.

Participation Details This study involves a single visit to the lab. Each visit will last about 3-4 hours. These visits can be scheduled at your convenience during the day or the weekend.

Research Contact: FXSNeuralMarkers@childrens.harvard.edu or call 617-355-4373

Full Description
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability impacting 1 in 4,000 boys and 1 in 6,000 girls. In addition to cognitive deficits, children with FXS often struggle with significant language delays and behavioral challenges, and nearly half of all individuals meet criteria for Autism Spectrum Disorder (ASD). Currently there is no effective treatment for FXS. Animal models of FXS have led to greater understanding of the neurobiology of the disorder, and identified key drug targets that improve cognitive and behavioral phenotypes. Despite extensive research in animal models, only a handful of studies have investigated brain activity and function in children with FXS, presenting a huge roadblock in translating lab-developed therapeutics to patients. This study aims to identify and characterize brain-based markers that predict cognitive, language, and behavioral deficits in young children with FXS and ASD. We will use EEG (a low cost, non-invasive technique) to measure brain activity in response to sensory stimuli, and correlate this with a range of cognitive, language, and behavioral measures. The brain-based markers will then be used in future clinical trials as objective measures for targeted outcomes. Results from this study should improve our understanding of the neural mechanisms that underlie some of the core ASD symptoms and comorbidities seen in FXS.

JASPER Intervention in Down Syndrome

Brief description
This study will investigate whether a behavioral intervention called JASPER (Joint Attention Symbolic Play Engagement Regulation) can help young children with Down syndrome with their development. Specifically, the study will examine whether JASPER can improve how well children with Down syndrome pay attention, interact with their parents, and adjust their emotions and behavior.

Eligibility for Study Participation

  • Infants between 36-48 months of age who have Down syndrome
  • Parents must be available to participate in all of the intervention and study sessions
  • English is primary language

Participation Details
Participation lasts for 6 months total and involves 1) parent surveys (at home and during visits), 2) 3 visits to the hospital for behavioral assessments behavioral and EEG (brain activity measurements), and 3) 12-15 weekly virtual intervention session

Research Contact downsyndrome.research@childrens.harvard.edu or 617-919-6435.

Full description

Research has shown that early targeted behavior interventions have been linked to improved outcomes in cognitive and behavioral functioning for children with Down syndrome. This study will build off JASPER interventions that have already been shown to successfully improve outcomes in toddlers with diagnosed Autism Spectrum Disorder (ASD) and a wide range of developmental abilities. JASPER is individualized and modified based on a child’s skills and behavior. Therefore, it is expected that it may be a particularly effective intervention for children with Down syndrome who have varying levels of developmental skills and social engagement. Developmental outcomes for this study will be measured using behavioral assessments, parent surveys, and electrophysiological (EEG) methods.

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Laboratories of Cognitive Neuroscience