Document Detail

Obstacles to Communication in Children With Cri du Chat Syndrome.
MedLine Citation:
PMID:  22921333     Owner:  NLM     Status:  Publisher    
BACKGROUND: Cri du chat syndrome (CCS) is a genetic disorder resulting from the deletion of the short arm of chromosome 5. Perhaps the most distinctive characteristic of this syndrome is the congenital high-pitched cry, which frequently brings these patients to the attention of an otolaryngologist. Speech and language development in children with CCS is notable for a reduced receptive vocabulary and a profound deficit in expressive language. Currently, no clear guidelines have been established for the treatment of the speech and language difficulties exhibited by these patients. In this article, we present a case report and discuss the current literature regarding the challenges to effective communication in CCS. METHODS: Case report. CASE: We present a 7-year-old girl with CCS who sought help to improve her ability to communicate. The patient presented with a persistent high-pitched voice unchanged since birth and a breathy dysphonia. Findings on examination were significant for an abnormally oriented larynx with atrophic vocal folds. She continues to undertake intensive speech therapy to assist in her language development. CONCLUSION: CCS is a genetic disorder that universally results in profound deficits in expressive speech. Although patients with CCS commonly present with a high-pitched voice and marked laryngeal abnormalities, they are unlikely to benefit from surgical intervention. Speech and language therapy, including augmentative communication devices, may enhance effective communication and improve the quality of life of these patients.
Jordan M Virbalas; Gina Palma; Melin Tan
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-22
Journal Detail:
Title:  Journal of voice : official journal of the Voice Foundation     Volume:  -     ISSN:  1557-8658     ISO Abbreviation:  J Voice     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8712262     Medline TA:  J Voice     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 The Voice Foundation. Published by Mosby, Inc. All rights reserved.
Department of Otorhinolaryngology-Head and Neck Surgery, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
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