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 attention-deficit/hyperactivity disorder [ADHD]; 15-year-old male with academic concerns and ASD, 12-year-old male with academic concerns).
Results: Of the 12 patients, macrocephaly was present in 100%, 58% had developmental delays during early childhood, and 17% had an ASD diagnosis. Results from neuropsychological testing showed Borderline to Average range global intellectual functioning (Standard Score range: 77 to 95) along with deficits in non-verbal reasoning, visual-motor integration, math achievement, and caregiver-rated adaptive skills.
Conclusion: Individuals with PHTS may present with cognitive difficulties that impact everyday functioning, with or without a neurodevelopmental diagnosis. Routine neurocognitive assessment should be considered in management guidelines.
Keywords: PTEN hamartoma syndrome; adolescent; childhood; neurocognitive.