The Seaver Autism Center is conducting the following behavioral, neuroimaging, and genetic studies:
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome: The goal of this study is to gain a better understanding of Phelan-McDermid syndrome (PMS). This is a multi-center research study conducted as part of the Rare Disease Clinical Research Network (RDCRN) and sponsored by the National Institutes of Health (NIH). Individuals between the ages of 3-21 diagnosed with PMS are eligible to participate in this study.
Early-Stage Visual Processing in ASD: Neurophysiological Biomarkers Using Visual Evoked Potentials: The purpose of this study is to identify biological markers for autism spectrum disorder using a type of brain wave measurement known as a visual evoked potential (VEP). This involves placing three non-invasive electrodes on top of the head while watching patterns on a computer monitor for approximately 10 minutes. Individuals may be eligible to participate if they or a sibling are affected by ASD or if they are typically developing.
Brain Imaging of Children with Developmental Delays or Autism: This study is examining the ways in which the brains of children with developmental delay or autism respond to speech and other sounds. We are also studying brain structure and the connections between brain regions. Children ages 2-17 may be eligible.
Genetic Testing: Genetic testing is available to all patients who participate in Seaver Autism Center research. Our clinicians work directly with our clinical geneticists to carry out basic and advanced genetic analyses on all consenting families. Our genetic testing can determine an etiological diagnosis in more than 20 percent of families, and this information may have important ramifications for predicting recurrence risk in families and identifying new genes in autism.
Autism BrainNet: The Icahn School of Medicine at Mount Sinai is one of the nodes of Autism BrainNet, a network of research institutions dedicated to groundbreaking brain research in autism.
Developing Scalable Measures of Behavior Change for ASD Treatment: The goal of this study is to develop and evaluate a new instrument for measuring change in social-communication behaviors in verbally fluent children with autism spectrum disorder. Participating in the study involves evaluating cognitive abilities, autism symptoms, social behaviors, treatment outcomes and adaptive functioning. Children between the ages of 4 and 16 may be eligible to participate.
Mapping the Genotype and Phenotype in Individuals with FOXP1 Mutations: The goal of this study is to gain a better understanding of the impact of FOXP1 mutations in children and adults. The study will involve a medical evaluation, neurological examination, dysmorphological examination, detailed behavioral testing and imaging.