title: Obstacles to communication in children with cri du chat syndrome.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467, USA. jvirbalas@montefiore.org
authors.forename: Jordan M
authors.initials: JM
authors.lastname: Virbalas
authors.forename: Gina
authors.initials: G
authors.lastname: Palma
authors.forename: Melin
authors.initials: M
authors.lastname: Tan
mesh_terms: D001284:Atrophy; D002648:Child; D002663:Child Language; D003142:Communication; D032882:Comprehension; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000523:psychology / Q000628:therapy*; D055154:Dysphonia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000523:psychology / Q000628:therapy*; D005260:Female; D006801:Humans; D007828:Laryngoscopy; D007830:Larynx / Q000002:abnormalities / Q000503:physiopathology*; D010699:Phonation; D013061:Speech Acoustics; D013070:Speech Therapy; D016896:Treatment Outcome; D014827:Vocal Cords / Q000503:physiopathology; D014833:Voice Quality