Evidence That the Association Between Hypernasality and 22q11 Deletion Syndrome Still Goes Undetected: A Case Study 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 ... Clinical Focus: Case Study
Clinical Focus: Case Study  |   August 01, 2000
Evidence That the Association Between Hypernasality and 22q11 Deletion Syndrome Still Goes Undetected: A Case Study
 
Author Affiliations & Notes
  • Irit Spierer Greenberg
    University of Miami, Mailman Center for Child Development, Miami, FL
  • Robert C. Fifer
    University of Miami, Mailman Center for Child Development, Miami, FL
  • Contact author: Irit S. Greenberg, MS, University of Miami, Mailman Center for Child Development, P.O. Box 016820, Miami, FL 33101
    Contact author: Irit S. Greenberg, MS, University of Miami, Mailman Center for Child Development, P.O. Box 016820, Miami, FL 33101×
Article Information
Clinical Focus / Case Study
Clinical Focus: Case Study   |   August 01, 2000
Evidence That the Association Between Hypernasality and 22q11 Deletion Syndrome Still Goes Undetected: A Case Study
American Journal of Speech-Language Pathology, August 2000, Vol. 9, 197-201. doi:10.1044/1058-0360.0903.197
History: Received September 13, 1999 , Accepted June 30, 2000
 
American Journal of Speech-Language Pathology, August 2000, Vol. 9, 197-201. doi:10.1044/1058-0360.0903.197
History: Received September 13, 1999; Accepted June 30, 2000

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.

Author Note
Further information may be obtained from the VCFS Education Foundation at: Communication Disorder Unit, University Hospital, 750 Adams St., 708 Jacobsen Hall, Syracuse, NY 13210; phone number: 315-464-6590; Web site: www.vcfes.org.
Order a Subscription
Pay Per View
Entire American Journal of Speech-Language Pathology content & archive
24-hour access
This Article
24-hour access