Communication disorders in the 22Q11.2 microdeletion syndrome
| Autor: | Paul P. Wang, Peter Randall, Beverly S. Emanuel, Marilyn Cohen, Marsha Gerdes, Deborah A. Driscoll, Elaine H. Zackai, Cynthia Solot, Carol Knightly, Edward Moss, Steven D. Handler, Don LaRossa, Donna M. McDonald-McGinn |
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| Rok vydání: | 2000 |
| Předmět: |
Linguistics and Language
Adolescent Hearing loss Chromosomes Human Pair 22 Cognitive Neuroscience Population Chromosome Disorders Experimental and Cognitive Psychology Neurological disorder Speech Disorders Developmental psychology Speech and Hearing Communication disorder medicine Humans Language disorder Child education Hearing Disorders Chromosome Aberrations Language Disorders education.field_of_study Voice Disorders Genetic disorder Syndrome Microdeletion syndrome LPN and LVN medicine.disease Child Preschool Communication Disorders Identification (biology) Chromosome Deletion medicine.symptom Deglutition Disorders Psychology |
| Zdroj: | Journal of Communication Disorders. 33:187-204 |
| ISSN: | 0021-9924 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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