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

Launched by BOSTON CHILDREN'S HOSPITAL · Jun 1, 2015

Keywords

ClinConnect Summary

This clinical trial is studying how autism spectrum disorder (ASD) relates to a specific genetic change called a PTEN mutation. Researchers want to understand the differences in medical, behavioral, and thinking skills between individuals with PTEN-related ASD and other groups. They will also look for unique biological markers that may help in understanding this condition better. Additionally, the study aims to create a collection of biological samples and information that can be used for future research.

To participate, individuals must be at least 18 months old and have a confirmed diagnosis of ASD or a PTEN mutation. If participants are under 18, a parent or guardian will need to give permission. The study is open to all genders and encourages families with multiple eligible children to participate. Participants can expect to undergo assessments and provide samples, and those who are eligible may also take part in brain imaging studies. It's important to note that certain medical conditions or behaviors may prevent someone from participating.

Gender

ALL

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.
• • 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.