Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A questionnaire survey of 74 parents of children with Down syndrome was conducted. Results indicated that adenotonsillectomy benefited their children by eliminating or reducing the symptoms of snoring, sleep apnea, nasal drainage, and mouth breathing. On the basis of parental responses, it appears that in the absence of nasal obstruction, adenotonsillectomy fails to improve drooling or tongue protrusion. Adenoid tissue is physiologically important to the child with Down syndrome and its removal can result in hypernasality. Two children in the survey sample who underwent adenoidectomy and/or tonsillectomy developed this complication. They were given complete speech and language testing and evaluated with cinefluoroscopy. Both structural and functional causes of hypernasality were identified. Structural abnormalities included a high-arched short hard palate and a short soft palate. Hypotonia, slowed motor learning, and oral motor developmental delay were confounding functional factors in these patients. The incidence of postoperative hypernasality found in these patients is higher than in the general population and should be an important consideration before performing an adenoidectomy.
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PMID:Risks and benefits of adenotonsillectomy for children with Down syndrome. 294 58

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.
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PMID:Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development. 1096 79