Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3, which codes for a critical scaffolding protein in excitatory synapses. SHANK3 variants are also known to be associated with an increased risk for regression, as well as for psychiatric disorders, including bipolar disorder and catatonia. This study aimed to further describe these phenomena in PMS and to explore any relationship between psychiatric illness and regression after early childhood.

Methods

Thirty-eight people with PMS were recruited to this study through the Phelan-McDermid Syndrome Foundation based on caregiver r

SUBMITTER: Kohlenberg TM 

PROVIDER: S-EPMC7014655 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature