Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
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.
Stanford is not currently accepting new patients for this trial. You may want to check clinicaltrials.gov to see if other locations are recruiting.
Ages Eligible For Study:
- Individuals ages 3 to 21 years old at the time of consent who have documentation of a clinical diagnosis of autism spectrum disorder diagnosis 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. - Youth ages 3-17 and adults age 18-21 who do not have an autism spectrum disorder or a PTEN mutation for inclusion in the control group. - Consent from parents or guardians or an adult with or suspected of having an autism spectrum disorder that does not require a legal guardian or an adult who is the healthy sibling of an individual with an autism spectrum disorder. - Youths who are able (some young or severely impaired participants may not be able to provide assent) will be asked to provide assent. - Families with multiple children who meet the above inclusion criteria will be permitted to have as many children participate as they wish. A separate consent form will be filled out for each child enrolled in the study. - Primary communicative language must be English