Communication disorders in the 22q11.2 microdeletion syndrome

Author(s): Knightly, C., Handler, S. D., Gerdes, M., McDonaldMcGinn, D. M., Moss, E., Wang, P., Cohen, M., Randall, P., Larossa, D., Driscoll, D. A., Emanuel, B. S., Zackai, E. H.

Journal/Book: J Commun Disord. 2000; 33: 655 Avenue of the Americas, New York, NY 10010, USA. Elsevier Science Inc. 187-204.

Abstract: The 22q11.2 microdeletion syndrome is a genetic disorder that is being recognized with increasing frequency. Confirmation of the diagnosis can be made using fluorescence in situ hybridization, Many medical and developmental problems are present in children with this syndrome. Communication disorders are among the most common features of this syndrome and include articulation, language, resonance, and voice problems. The purpose of this paper is to provide a description of the communicative and developmental features in a sample of children with the 22q11.2 microdeletion syndrome seen for evaluation. Because communication and feeding disorders may be presenting features of this syndrome, speech and language pathologists must be familiar with this syndrome and its various characteristics. Awareness of these features and a multidisciplinary approach are necessary for the identification and treatment of the complex communicative and medical problems present in this population.

Note: Article Solot CB, Childrens Hosp Philadelphia, Dept Commun Disorders, Childrens Seashore House, 3405 Civic Ctr Blvd, Philadelphia,PA 19104 USA

Keyword(s): resonance; voice; language; speech; hearing; CARDIO-FACIAL SYNDROME; ANOMALY FACE SYNDROME; VELOCARDIOFACIAL SYNDROME; CHROMOSOMAL REGION; DIGEORGE-SYNDROME; CLEFT-PALATE; DELETION; CHILDREN; HEARING; PATIENT

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