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

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 participants may not be able to
   provide assent) will be asked to provide assent as per IRB guidelines.

   - 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

Exclusion Criteria

   - Unwilling or unable to comply with study procedures and assessments

   - Clinically significant medical disease that would prohibit participation in the study
   procedures.

   - For subjects ELIGIBLE FOR OPTIONAL imaging biomarker assessment: contraindications to
   3T MRI scanning, such as metal implants/non-compatible medical devices or medical
   conditions, including vagus nerve stimulator.

   - For subjects ELIGIBLE FOR EEG/ERP biomarker assessment: contraindications to EEG/ERP,
   such as uncooperative or destructive behaviors preventing lead placement or capture by
   ERP/VEP equipment. Under age 2 or over 11 at the time of enrollment.