Dysarthria and broader motor speech deficits in Dravet syndrome

Journal article

Turner, Samantha J., Brown, Amy, Arpone, Marta, Anderson, Vicki, Morgan, Angela T. and Scheffer, Ingrid E.. (2017). Dysarthria and broader motor speech deficits in Dravet syndrome. Neurology. 88(8), pp. 743-749. https://doi.org/10.1212/WNL.0000000000003635

Publication dates
Authors	Turner, Samantha J., Brown, Amy, Arpone, Marta, Anderson, Vicki, Morgan, Angela T. and 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.
Year	2017
Journal	Neurology
Journal citation	88 (8), pp. 743-749
Publisher	Lippincott Williams & Wilkins
ISSN	0028-3878
Digital Object Identifier (DOI)	https://doi.org/10.1212/WNL.0000000000003635
Scopus EID	2-s2.0-85013484824
Research or scholarly	Research
Page range	743-749
Funder	National Health and Medical Research Council (NHMRC)
	Australian Research Council (ARC)
Publisher's version	License All rights reserved File Access Level Controlled
Output status	Published
Online	01 Feb 2017
Publication process dates
Accepted	23 Nov 2016
Deposited	07 Sep 2021
Grant ID	NHMRC/101777
	NHMRC/1105008
	NHMRC/628952
	NHMRC/1091593
	NHMRC/1006110
	NHMRC/1104831
	ARC/DP120100285

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