title: Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development.
abstract: Velo-cardio-facial syndrome is the most common contiguous gene disorder in humans and constitutes 8% of patients with clefts of the secondary palate. Speech disorders, including severe hypernasality and articulation impairment have been documented as among the most common clinical manifestations of the disorder. A series of 36 consecutive patients with VCFS ranging in age from 3 to 14 years, all confirmed to have a 22q11.2 deletion, were studied to determine specific risk factors associated with VPI and articulation impairment. Factors studied included palatal clefting, hypotonia, platybasia, and adenoid size. The factor that correlated most strongly with speech disorders was adenoid hypoplasia or absence, a common manifestation in the syndrome. It is hypothesized that early identification of the absence or hypoplasia of the adenoids can result in the implementation of appropriate therapy plans to avoid severe disorders of speech intelligibility.
authors.affiliation: Communication Disorder Unit, Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Science, Upstate Medical University, Syracuse, NY 13210, USA. havkinn@upstate.edu
authors.forename: N
authors.initials: N
authors.lastname: Havkin
authors.forename: S A
authors.initials: SA
authors.lastname: Tatum
authors.forename: R J
authors.initials: RJ
authors.lastname: Shprintzen
mesh_terms: D000015:Abnormalities, Multiple; D000234:Adenoids / Q000002:abnormalities*; D000293:Adolescent; D001184:Articulation Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D010159:Palate / Q000002:abnormalities*; D010985:Platybasia; D011379:Prognosis; D012016:Reference Values; D012307:Risk Factors; D013062:Speech Articulation Tests; D013065:Speech Intelligibility; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*