Abstract:
OBJECTIVE:To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A. METHODS:Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery. RESULTS:Speech was characterized by imprecise articulation, abnormal nasal resonance, voice, and pitch, and prosody errors. Half of verbal patients had moderate to severely impaired conversational speech intelligibility. Oral motor impairment, motor planning/programming difficulties, and poor postural control were typical. Nonverbal individuals had intentional communication. Cognitive skills varied markedly, with intellectual functioning ranging from the low average range to severe intellectual disability. Language impairment was congruent with cognition. CONCLUSIONS:We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognizing this phenotype will guide therapeutic intervention in patients with DS.
journal_name
Neurologyjournal_title
Neurologyauthors
Turner SJ,Brown A,Arpone M,Anderson V,Morgan AT,Scheffer IEdoi
10.1212/WNL.0000000000003635subject
Has Abstractpub_date
2017-02-21 00:00:00pages
743-749issue
8eissn
0028-3878issn
1526-632Xpii
WNL.0000000000003635journal_volume
88pub_type
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