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Prader-Willi syndrome (PWS), most recognized for the hallmark hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the q11-13 region of chromosome 15. Since the recognition of PWS as a genetic disorder, most research has focused primarily on the medical, genetic, and behavioral aspects of the syndrome. Extensive research has not been conducted on the cognitive, speech, and language abilities in PWS. In addition, language differences with regard to genetic mechanism of PWS have not been well investigated. To date, research indicates overall language ability is markedly below chronological age with expressive language more impaired than receptive language in people with PWS. Thus, the aim of the present study was to further characterize expressive and receptive language ability in 35 participants with PWS and compare functioning by genetic subtype using the Clinical Evaluation of Language Fundamentals-4 (CELF-IV). Results indicate that core language ability is significantly impaired in PWS and both expressive and receptive abilities are significantly lower than verbal intelligence. In addition, participants with the maternal uniparental disomy (mUPD) genetic subtype exhibit discrepant language functioning with higher expressive vs. receptive language abilities. Future research is needed to further examine language functioning in larger genetic subtype participant samples using additional descriptive measures. Further work should also delineate findings with respect to size of the paternal deletion (Type 1 and Type 2 deletions) and explore how overexpression of maternally expressed genes in the 15q11-13 region may relate to verbal ability. After reading this article, the reader will be able to: (1) summarize primary characteristics of Prader-Willi syndrome (PWS), (2) describe differentiating characteristics for the PWS genetic subtypes, (3) recall limited research regarding language functioning in PWS to date, (4) summarize potential genetic variations of language ability in Prader-Willi syndrome, and (5) summarize language ability in PWS with respect to adaptive functioning. Copyright © 2012 Elsevier Inc. All rights reserved.


Anastasia Dimitropoulos, Angela Ferranti, Maria Lemler. Expressive and receptive language in Prader-Willi syndrome: report on genetic subtype differences. Journal of communication disorders. 2013 Mar-Apr;46(2):193-201

PMID: 23295077

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