Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
Boston Children's Hospital
Summary
The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD. In addition, this study will be creating and maintaining a biorepository and linked phenotypic database for PTEN ASD.
Description
Autism spectrum disorders (ASD) are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. ASD associated with germline heterozygous PTEN mutations (PTEN ASD) is a genetically defined sub-group that, may be one of the more prevalent genetic disorders contributing to ASD (0.5-2%). The purpose of this research study is to carefully track the phenotypic and molecular characteristics of PTEN ASD and identify biomarkers for intervention studies. Individuals with PTEN ASD, with macrocephalic ASD without a PTEN mutatio…
Eligibility
- Age range
- 1+ years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria * Individuals above the age of 18 months old at the time of consent who have documentation of a clinical diagnosis of autism spectrum disorder and/or a verified PTEN mutation from a medical or mental health professional for inclusion in the PTEN ASD, PTEN no-ASD or ASD macrocephaly groups. * Macrocephaly (head circumference greater than or equal to 98th percentile) for inclusion in the ASD macrocephaly group. * For youths, consent from parents or legal guardian. For adults, consent from self or legal guardian. * Youths who are able (some young or severely impaired participa…
Locations (5)
- University of California at Los AngelesLos Angeles, California
- Stanford University Medical CenterStanford, California
- Boston Children's HospitalBoston, Massachusetts
- Cincinnati Children's Hospital Medical CenterCincinnati, Ohio
- Cleveland ClinicCleveland, Ohio