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Dysarthria and broader motor speech deficits in Dravet syndrome
Turner, Samantha J. Brown, Amy Arpone, Marta Anderson, Vicki Morgan, Angela T. Scheffer, Ingrid E.
Turner, Samantha J.
Brown, Amy
Arpone, Marta
Anderson, Vicki
Morgan, Angela T.
Scheffer, Ingrid E.
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.
Keywords
Date
2017
Type
Journal article
Journal
Neurology
Book
Volume
88
Issue
8
Page Range
743-749
Article Number
ACU Department
School of Allied Health
Faculty of Health Sciences
Faculty of Health Sciences
Collections
Relation URI
Source URL
Event URL
Open Access Status
License
All rights reserved
File Access
Controlled