Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome.

Methods

We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype.

SUBMITTER: Levy T 

PROVIDER: S-EPMC11084001 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature