Fragile X Research and Treatment Program

The Fragile X Research and Treatment Program performs clinical evaluations and treatment for patients with fragile X syndrome and premutation disorders including the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder in older carriers. Current research includes several targeted treatment studies for children and adults with fragile X syndrome and studies regarding the association between molecular variations in the fragile X gene and the physical, behavioral and cognitive features of children and adults affected with fragile X syndrome or its premutation form. Research also has focused on screening studies and bringing targeted treatments to international locations, most recently to Colombia. The Center staff and faculty include specialists in molecular biology, pediatrics, molecular genetics, psychiatry, psychology, neurology, genetic counseling, speech and language pathology, occupational therapy, neurobiology, pathology and social work. More information
Randi Hagerman, principal investigator. 

Language Development in Neurodevelopmental Disorders

This program of research is designed to explore language development in individuals with developmental disabilities, including fragile X syndrome, Down syndrome, and autism. Each of these conditions has a unique linguistic “signature,” with different areas of relative strength and challenge. Current projects examine biological, behavioral, and environmental factors that influence the ways in which language develops over time and the processes that underlie language learning and language impairment. The goal is to use research findings to promote more effective interventions for individuals with these disabilities. To this end, studies also examine how to measure language ability and disability in the context of clinical trials, ways to make language therapies more effective, and ways in which parents can help promote language development in their children. More information
Leonard Abbeduto, principal investigator.

Parents and Toddlers at Home (PATH) Study

This study evaluates the effects of coaching parents of young children with autism ages 12 to 36 months on the use of Early Start Denver Model interactive strategies to increase their children’s social communication and developmental skills and reduce problem behaviors. The project has developed a parent-friendly training package for professionals and parents to help them learn techniques used in the Early Start Denver Model, a developmentally based comprehensive intervention for very young children with autism. More information.

Markers of Autism Risk in Babies-Learning Early Signs (MARBLES)

The MARBLES Project studies how autism unfolds during its earliest phases, beginning with the pregnancy of mothers with at least one older child with autism. The goals of the project are to 1) identify early signs of autism, 2) understand the earliest possible causes of autism, and 3) develop diagnostic tests or biomarkers and interventions that can limit the effects of autism or prevent it altogether.  More information.
Irva Hertz-Piciotto, principal investigator, and Robin Hansen, co-investigator.

Childhood Autism Risks from Genetics and the Environment (CHARGE)

CHARGE is a case-control study of nearly 2,000 children with autism, developmental delay without autism, and typical development, one-third of whom are Latino, looking at gene-environment interactions that increase the risk for autism and targeting environmental exposures that can be modified so as to reduce risk or actually prevent the development of autism. More information
Irva Hertz-Piciotto, principal investigator, and Robin Hansen, co-investigator.

Attention and Learning in School Aged Children with Autism

is project uses advances in technology, such as virtual reality (VR), to examine the impact of social attention on learning, academic development and social skill development in school-aged children with higher functioning autism. The goal of this longitudinal study is to better understand development in 8-to-16-year-old children with autism, in order to inform the development of more effective school-based education and intervention methods for these children. This project has shown that symptoms of anxiety and ADHD moderate the degree to which elementary and secondary students with autism can manage the multiple tasks of thinking, speaking and attending to other people in a virtual public speaking task. The VR public speaking task also offers a new methodology of social and cognitive intervention for children with ASD. The study has revealed that delays in the development of reading comprehension may be a significant part of the social-communication impairments of many school-aged children with higher functioning autism. 
Peter Mundy, principal investigator.

ADHD translational research

The ADHD translational research program undertakes research activities in etiology, assessment, treatment, and outcomes, using neuroscience and behavioral methods. It offers both neuroscience research activities in ADHD and evidence-based training and treatment models for ADHD throughout the lifespan. More Information
Julie Schweitzer, principal investigator.

RASopathy Clinic and Research Program

The NF/Ras Pathway Genetics Clinic provides comprehensive medical management for patients with RASopathies: neurofibromatosis 1/2, Noonan syndrome, capillary malformation-AV malformation, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, schwannomatosis or any RASopathy-like condition. The RASopathy Research Program is a collaborative consortium of investigators studying the association of autism in the RASopathies, how germline Ras/MAPK pathway dysregulation affects skeletal muscle development and other organ systems, and how germline Ras/MAPK pathway affects functional interactions among glia and neurons in the brain.