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.
PTEN, ASD, Autism, Macrocephaly, PTEN Hamartoma Tumor Syndrome
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.
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
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University of California at Los Angeles, Los Angeles, California, United States, 90095
Stanford University Medical Center, Stanford, California, United States, 94305
Boston Children's Hospital, Boston, Massachusetts, United States, 02115
Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States, 45229
Cleveland Clinic, Cleveland, Ohio, United States, 44195
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
For general information about clinical research, read Learn About Studies.
18 Months to
ALL
Yes
Boston Children's Hospital,
Antonio Hardan, MD, STUDY_CHAIR, Stanford University
2026-12