Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway.

ABSTRACT: Overgrowth intellectual disability syndromes (OGIDs) caused by mutations in the PI3K-AKT-MTOR pathway present significant neurobehavioral challenges. While PTEN Hamartoma Tumor Syndrome (PHTS) has been behaviorally characterized, Smith-Kingsmore Syndrome (SKS) has not, limiting our understanding of shared and unique features across OGIDs. We conducted comprehensive neurobehavioral assessments in 17 individuals with SKS and compared them to previously characterized cohorts with PHTS (n=74), macrocephaly-associated autism (n=33), and healthy controls (n=32). Assessments included standardized measures of motor coordination, adaptive functioning, social interaction, and executive functioning. We performed genotype-phenotype correlation analyses and developed diagnostic classification models us

SUBMITTER: Besterman AD 

PROVIDER: S-EPMC12393652 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature