Ongoing studies for autism and developmental disorders

Individuals with Autism demonstrate a variety of motor issues that may impact many daily activities as well as aspects of social interaction and language. Importantly, the brain mechanisms supporting motor behavior are well known. Therefore, by understanding individuals’ motor challenges, we may gain insight into the brain systems involved in autism. Study participation varies for each individual according to their level of interest and the amount of time they wish to devote to these studies. Participation may include tests of standing, walking, reaching and gripping as well as tests of eye movements. Individuals may also participate in functional MRI tests.

We recently found that motor issues experienced by individuals with autism also are found in their unaffected first-degree relatives. This suggests that studies of motor difficulties may offer insights into familial and genetic mechanisms associated with this disorder. We are investigating specific brain circuits underlying motor problems in individuals with autism and their biological parents.

We are investigating cognitive and sensory problems in autism, as well as the brain system disturbances that underlie these issues. We are interested in how cognitive and sensory processing differences may relate to social communication and daily life challenges for individuals diagnosed with an autism spectrum disorder. We hope that the information we gain from this study will help design new intervention and pharmacological treatment.

These studies are aimed at understanding sensory processing challenges in individuals with Fragile X Syndrome using behavioral tests and electroencephalography (EEG). Interested participants also may be eligible to participate in our clinical trials aimed at treating sensory challenges in Fragile X.

We also are interested in understanding behavioral and psychiatric issues related to premutations of the Fragile X gene, FMR1. Therefore, we are conducting studies of family members with a premutation allele of the FMR1 gene. As part of this work, we are performing studies of motor and cognitive abilities in FMR1 premutation carriers who are aged 50 years or older. Some FMR1 premutation carriers may begin to experience motor and cognitive issues related to a syndrome called Fragile X-associated tremor/ataxia syndrome (FXTAS). We are seeking individuals with a premutation allele who are ages 50 years or older to perform behavioral, motor and MRI tests. These studies may help us better understand the causes of FXTAS, how to identify it earlier in its course, and how to treat it.

Phelan-McDermid Syndrome (PMS) is caused by deletions or mutations on chromosome 22q13 affecting the SHANK3 gene. We are currently conducting clinical studies of PMS to fully define the behavioral, psychological and medical issues associated with this disorder, and establish underlying brain mechanisms so that new treatments can be developed.

Extra-corporeal Membrane Oxygenation (ECMO) is a form of cardio-respiratory support provided to critically ill children. Neurologic injury is a major complication of this therapy. Developing brain of a child is particularly susceptible to such injury, resulting in both acute and chronic neurologic sequelae. Our objective is to describe the epidemiology of long-term neurologic outcomes and identify risk factors associated with poor outcomes in children who have received ECMO therapy, to develop a protocol-based approach for neurologic follow-up ,to describe the epidemiology of neurodevelopmental outcomes and, to evaluate risk factors associated with long-term neurologic sequelae

This is a Retrospective Electronic medical record review of about 1000 patients with Autism who received EEG /Video EEG between January 2002-February 2014. We will be looking at EEG findings, clinical seizure types, severity of epilepsy , autistic traits, psychiatric comorbidities, Cognitive disabilities and other neurological behavioral manifestations in these patients. This will be followed by correlating EEG abnormalities with clinical phenotype.

We will be performing neurodevelopmental exams on these children to assess neurological endpoints and measurements . The objective of neurologic exam is to measure the incidence of stroke and cognitive deficits with the investigational device.