Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome.

ABSTRACT:

Objective

The current study used visual evoked potentials (VEPs) to examine excitatory and inhibitory postsynaptic activity in children with Phelan-McDermid syndrome (PMS) and the association with genetic factors. PMS is caused by haploinsufficiency of SHANK3 on chromosome 22 and represents a common single-gene cause of autism spectrum disorder (ASD) and intellectual disability.

Method

Transient VEPs were obtained from 175 children, including 31 with PMS, 79 with idiopathic ASD, 45 typically developing controls, and 20 unaffected siblings of children with PMS. Stimuli included standard and short-duration contrast-reversing checkerboard conditions, and the reliability between these 2 conditions was assessed. Test-retest reliability and correlations with deletion size were exp

SUBMITTER: Siper PM 

PROVIDER: S-EPMC8782912 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature