Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

7q11.23 duplication syndrome is a recently-documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Developmentally appropriate nonverbal pragmatic abilities are demonstrated in socially comfortable situations. Motor speech disorder (Childhood Apraxia of Speech and/or dysarthria), oral apraxia, and/or phonological disorder or symptoms of these disorders are common as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.
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PMID:Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention. 2275 4