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Article

Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.

European journal of human genetics : EJHG - 1 Apr 2021

Brignell Amanda, Gu Conway, Holm Alison, Carrigg Bronwyn, Sheppard Daisy A, Amor David J, Morgan Angela T

Abstract excerpt

Communication difficulties are a core feature of Phelan-McDermid syndrome (PMS). However, a specific speech and language phenotype has not been delineated, preventing prognostic counselling and development of targeted therapies. We examined speech, language, social and functional communication abilities in 21 individuals with PMS (with SHANK3 involvement), using standardised assessments. Mean age was 9.7 years...

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Identifiers

PMID: 33293697
DOI: 10.1038/s41431-020-00761-1
PMCID: PMC8115660

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