Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

Recruiting in Palo Alto (17 mi)

+4 other locations

Age: Any Age

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Academic

Recruiting

Sponsor: Boston Children's Hospital

No Placebo Group

Trial Summary

What is the purpose of this trial?

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.

Eligibility Criteria

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.

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