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
AuthorsTurner, 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.

Year2017
JournalNeurology
Journal citation88 (8), pp. 743-749
PublisherLippincott Williams & Wilkins
ISSN0028-3878
Digital Object Identifier (DOI)https://doi.org/10.1212/WNL.0000000000003635
Scopus EID2-s2.0-85013484824
Research or scholarlyResearch
Page range743-749
FunderNational Health and Medical Research Council (NHMRC)
Australian Research Council (ARC)
Publisher's version
License
All rights reserved
File Access Level
Controlled
Output statusPublished
Publication dates
Online01 Feb 2017
Publication process dates
Accepted23 Nov 2016
Deposited07 Sep 2021
Grant IDNHMRC/101777
NHMRC/1105008
NHMRC/628952
NHMRC/1091593
NHMRC/1006110
NHMRC/1104831
ARC/DP120100285
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