Dysarthria and broader motor speech deficits in Dravet syndrome
Dysarthria and broader motor speech deficits in Dravet syndrome
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DOI：
10.1212/wnl.0000000000003635
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发表时间：
2017-02-21
期刊：
影响因子：
9.9
通讯作者：
Scheffer, Ingrid E.
中科院分区：
文献类型：
--
作者：
Turner, Samantha J.;Brown, Amy;Scheffer, Ingrid E.
目的：目的：分析20例SCN 1A基因突变的Dravet综合征（DS）患儿的口腔运动、言语和语言表型。方法：对15例SCN 1A基因突变的言语型和5例最小言语型DS患者（年龄15个月~ 28岁）进行了一系列的言语评估。一半的语言患者有中度至重度受损的会话语音清晰度。口腔运动障碍、运动规划/编程困难和姿势控制不良是典型的。非语言的个体具有有意的交流。认知能力差异很大，智力功能从低平均水平到严重智力残疾不等。语言障碍是一致的cognition.Conclusions：我们描述了一个独特的语音，语言和口腔运动表型在儿童和成人DS与突变的SCN 1A。认识到这种表型将指导DS患者的治疗干预。
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.