Evidence That the Association between Hypernasality and 22q11 Deletion Syndrome Still Goes Undetected: A Case Study

Irit Spierer Greenberg, Robert C. Fifer

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

This manuscript presents a case study that underscores the need for increasing awareness that hypernasality, velopharyngeal insufficiency, and a number of other anomalies may be related through the common etiology of 22q11 deletion syndrome. The child presented here has a long-standing history of cardiac defects, hypernasality, poor speech intelligibility, and other anomalies. The variety of symptoms, occurring over a relatively broad time span, caused the family to seek several individual specialists on separate occasions. A major factor influencing this case was the absence of communication between the various specialists. Each health care specialist treated the child based on the limited perspective of the individual discipline, missing the fundamental etiology of the child's disorders. It was not until the diagnosis of 22q11 deletion syndrome was established that successful, coordinated treatment of the disorder was realized.

Original languageEnglish (US)
Pages (from-to)197-201
Number of pages5
JournalAmerican Journal of Speech-Language Pathology
Volume9
Issue number3
DOIs
StatePublished - Jan 1 2000

Keywords

  • 22q11 deletion syndrome
  • Cardiac anomalies
  • Craniofacial
  • Hypernasality
  • Interdisciplinary assessment
  • Velo-cardiofacial syndrome

ASJC Scopus subject areas

  • Rehabilitation
  • Linguistics and Language
  • Health Professions(all)

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