دورية أكاديمية
أعرض في EDS

Obstacles to communication in children with cri du chat syndrome.

التفاصيل البيبلوغرافية
العنوان: Obstacles to communication in children with cri du chat syndrome.
المؤلفون: Virbalas JM; Department of Otorhinolaryngology-Head and Neck Surgery, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467, USA. jvirbalas@montefiore.org, Palma G, Tan M
المصدر: Journal of voice : official journal of the Voice Foundation [J Voice] 2012 Nov; Vol. 26 (6), pp. 821.e1-3. Date of Electronic Publication: 2012 Aug 22.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 8712262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4588 (Electronic) Linking ISSN: 08921997 NLM ISO Abbreviation: J Voice Subsets: MEDLINE
أسماء مطبوعة: Publication: 2003- : St. Louis, MO : Mosby
Original Publication: [New York, N.Y.] : Raven Press, 1987-
مواضيع طبية MeSH: Child Language* , Communication* , Speech Therapy* , Voice Quality*, Cri-du-Chat Syndrome/*therapy , Dysphonia/*therapy , Larynx/*physiopathology, Atrophy ; Child ; Comprehension ; Cri-du-Chat Syndrome/diagnosis ; Cri-du-Chat Syndrome/genetics ; Cri-du-Chat Syndrome/physiopathology ; Cri-du-Chat Syndrome/psychology ; Dysphonia/diagnosis ; Dysphonia/genetics ; Dysphonia/physiopathology ; Dysphonia/psychology ; Female ; Humans ; Laryngoscopy ; Larynx/abnormalities ; Phonation ; Speech Acoustics ; Treatment Outcome ; Vocal Cords/physiopathology
مستخلص: 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.
(Copyright © 2012 The Voice Foundation. Published by Mosby, Inc. All rights reserved.)
تواريخ الأحداث: Date Created: 20120828 Date Completed: 20130513 Latest Revision: 20121126
رمز التحديث: 20221213
DOI: 10.1016/j.jvoice.2012.06.005
PMID: 22921333
قاعدة البيانات: MEDLINE
الوصف
تدمد:1873-4588
DOI:10.1016/j.jvoice.2012.06.005