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Article

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Molecular autism - 1 Jan 2019

Kolevzon Alexander, Delaby Elsa, Berry-Kravis Elizabeth, Buxbaum Joseph D, Betancur Catalina

Abstract excerpt

Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.33 and is characterized by intellectual disability, hypotonia, severe speech impairments, and autism spectrum disorder. Emerging evidence indicates that there are changes over time in the phenotype observed in individuals with PMS, including severe neuropsychiatric symptoms and loss of skills occurring in...

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Identifiers

PMID: 31879555
DOI: 10.1186/s13229-019-0291-3
PMCID: PMC6930682

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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