Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

ABSTRACT:

Background

PTEN Hamartoma Tumor Syndrome (PHTS) is a rare genetic condition caused by germline mutations in the phosphatase and tensin homologue (PTEN) gene with a phenotype that includes macrocephaly, cancer predisposition, developmental delay, increased risk for autism spectrum disorder (ASD), and learning difficulties. Studies characterizing neurobehavioral profiles are limited.

Methods

This single-site, retrospective case series was completed in children who have PHTS followed in a cancer predisposition clinic. Demographic and clinical, data were abstracted from the medical record for 12 patients (mean age at clinic entry = 8.83 years; 42% female). Neuropsychological data were abstracted for 3 of 12 patients that were referred for testing (17-year-old female with attenti

SUBMITTER: Hasler HM 

PROVIDER: S-EPMC10117704 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature