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J Commun Disord. 2000 May-Jun;33(3):187-203; quiz 203-4.

Communication disorders in the 22Q11.2 microdeletion syndrome.

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  • 1Department of Communication Disorders, The Children's Seashore House of The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.


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.

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