The Seaver Autism Center is conducting the following behavioral, neuroimaging, and genetic studies:
Sensory Processing in Children with Autism Spectrum Disorder. The research team at the Seaver Autism Center is seeking children to participate in a study to examine sensory processing in children with autism spectrum disorder using a brain wave measurement and sensory assessments. The brain was measurement involves placing three non-invasic electrodes on your child's head using a paste that dissolves in water and your child wil be asked to look at patterns on a computer monitor for approximately 10 minutes. Your child will also complete a play-based sensory observational assessment and you will complete questionnaires about your child's sensory preferences. Chidren may be eligible to participate if they are between the ages of 2 and 10. Participants will be compensate for their time and effort, and the assessments will take up to 2 hours. Typically developing children are also eligible to participate.
Development of Behavioral and Neural Biomarkers for Autism Spectrum Disorder Using a Genetically Defined Subtype: The research team at the Seaver Autism Center is seeking children to participate in a study to examine sensory processing in children with autism spectrum disorder and Phelan-McDermid syndrome using brain wave measurement and sensory assessments. The brain wave measurement involves placing three non-invasive electrodes on your child’s head using a paste that dissolves in water and your child will be asked to look at patterns on a computer monitor for approximately 10-minutes. Your child will also complete a play-based sensory observational assessment and you will complete questionnaires about your child’s sensory preferences. Typically developing children are also eligible to participate.
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.
Improving Access to Care for Minority Youth with Autism Spectrum Disorder Using a Family Peer Advocate Model: The Seaver Autism Center is evaluating the use of Family Peer Advocates (FPA) to improve the health and well-being of children with autism spectrum disorder. Family Peer Advocates (often referred to as Parent Advocates) are being used across child service delivery systems to improve engagement in care and collaboration between caregivers and service providers. The goal of this study is to expand the resources available to families within ASD service systems, with a focus on helping African-American and Latino caregivers understand ASD and available treatment options, decrease obstacles in service use, collaborate with service providers, and actively pursue treatment goals at home.
The Autism Sisters Project: The Autism Sisters Project will collect behavioral and genetic information from all family members including siblings and parents of individuals with ASD. If you agree to participate, all family members will complete activities looking at thinking and language abilities. You will also be asked to complete several questionnaires and a provide a saliva sample for genetic analysis.
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.
Sensory and Perceptual Functioning in Neurodevelopmental Disorders: Using multimodal neuroimaging (EEG, MRI), psychophysical testing, eye tracking, and targeted clinical assessments, this research investigates sensory and perceptual processing as they differ between ASD and typical development. The convergence or divergence between ASD and other neurodevelopmental disorders including SZS will also be examined, and as well as relations to specific patterns of clinical symptoms within the broad ASD population and within individuals exhibiting known genetic mutations that contribute to an ASD phenotype. Individuals age 2-50 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.
Rare Disorders Related to Autism
A translational approach to DDX3X syndrome: DDX3X syndrome is thought to account for up to 2% of unexplained intellectual disability in females, making it one of the most common causes of intellectual disability. For families enrolled in this study, there will be comprehensive medical, neurological, psychiatric, behavioral and dysmorphological examinations, as well as standardized cognitive, diagnostic, and language assessments. Complementary work done in the laboratory will include studies on patient-derived stem cells and research involving mouse models for DDX3X syndrome.
Developing precision approaches to the treatment of individuals with ADNP syndrome: ADNP syndrome is a rare neurodevelopmental disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This study seeks to comprehensively characterize individuals with ADNP syndrome. Participation involves medical, neurological, and dysmorphological examinations as well as standardized cognitive, diagnostic, and language assessments. Study participants will also complete our experimental biomarker battery, which includes electrophysiological (EEG) and eye tracking measures.
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). We are no longer accepting new subjects for this study.
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.