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 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
Email 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.

COVID-19 Supplement - HEALthy Brain and Child Development Study (hBCD)

Brief Description
As part of a greater initiative of the HEALthy Brain and Child Development Study, we now focus our efforts on better understanding stress associated with infection in pregnancy and look to provide better support children born in the time of the current COVID-19 pandemic.

Eligibility for Participation
We invite pregnant mothers both with a positive COVID-19 diagnosis and without a COVID-19 diagnosis to enroll in this study.

Participation Details
All procedures prior to your child’s birth will take place virtually via online surveys. After your child is born, you will have two visits at the Labs of Cognitive Neuroscience at Boston Children’s Hospital. The visits will occur when your child is 3 and 6 months of age. If you are interested in participating, we will arrange a time that is convenient for you and your child. If you are interested in participating, we will arrange a time that is convenient for you and your child. During the visits we ask you to fill out a few questionnaires and we will show your baby some videos while we record their eye movements. We’ll also use a special, non-invasive cap that lets us see their brain activity while they watch the videos. We offer $25 to you per session, so up to $100 in total, as a thank you for participating, as well as a free toy for your baby. We can also provide free parking or transportation and free childcare for siblings.

Research Contact
Call 857-218-3011 or email familiesHEAL@childrens.harvard.edu

Full Description
The COVID-19 pandemic has reached nearly every continent across the globe with a profound impact in the United States. There is limited information regarding the susceptibility of pregnant women to more severe illness, with corresponding implications for their child. While there is uncertainty surrounding the evidence of vertical transmission, the consequential stress of contracting the infection while pregnant may pose a unique set of challenges for new infants and mothers in the current global, national, and local environments. Beyond the physical effects of the illness, contracting the virus during pregnancy is undoubtedly stressful. By using varied methods and following the same babies over their first year, we aim to create a comprehensive picture of how a prenatal COVID-19 diagnosis influences the earliest stages of development.

Contact Us

Laboratories of Cognitive Neuroscience