Dysarthria and broader motor speech deficits in Dravet syndrome.
OBJECTIVE
To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations inSCN1A.


METHODS
Fifteen verbal and 5 minimally verbal DS patients withSCN1Amutations (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 inSCN1A.Recognizing this phenotype will guide therapeutic intervention in patients with DS.
From the Department of Paediatrics, The University of Melbourne (S.J.T., M.A., V.A., A.T.M., I.E.S.), and Department of Psychology (V.A.), The Royal Children's Hospital; Neuroscience of Speech Group, Clinical Sciences Theme (S.J.T., A.T.M.), Australian Centre for Child Neuropsychological Studies (A.B., M.A., V.A.), Murdoch Childrens Research Institute, Melbourne; Epilepsy Research Centre, Department of Medicine (I.E.S.), The University of Melbourne, Austin Health; and Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne, Australia.
Samantha J
SJ
Turner
From the Department of Paediatrics, The University of Melbourne (S.J.T., M.A., V.A., A.T.M., I.E.S.), and Department of Psychology (V.A.), The Royal Children's Hospital; Neuroscience of Speech Group, Clinical Sciences Theme (S.J.T., A.T.M.), Australian Centre for Child Neuropsychological Studies (A.B., M.A., V.A.), Murdoch Childrens Research Institute, Melbourne; Epilepsy Research Centre, Department of Medicine (I.E.S.), The University of Melbourne, Austin Health; and Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne, Australia.
Amy
A
Brown
From the Department of Paediatrics, The University of Melbourne (S.J.T., M.A., V.A., A.T.M., I.E.S.), and Department of Psychology (V.A.), The Royal Children's Hospital; Neuroscience of Speech Group, Clinical Sciences Theme (S.J.T., A.T.M.), Australian Centre for Child Neuropsychological Studies (A.B., M.A., V.A.), Murdoch Childrens Research Institute, Melbourne; Epilepsy Research Centre, Department of Medicine (I.E.S.), The University of Melbourne, Austin Health; and Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne, Australia.
Marta
M
Arpone
From the Department of Paediatrics, The University of Melbourne (S.J.T., M.A., V.A., A.T.M., I.E.S.), and Department of Psychology (V.A.), The Royal Children's Hospital; Neuroscience of Speech Group, Clinical Sciences Theme (S.J.T., A.T.M.), Australian Centre for Child Neuropsychological Studies (A.B., M.A., V.A.), Murdoch Childrens Research Institute, Melbourne; Epilepsy Research Centre, Department of Medicine (I.E.S.), The University of Melbourne, Austin Health; and Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne, Australia.
Vicki
V
Anderson
From the Department of Paediatrics, The University of Melbourne (S.J.T., M.A., V.A., A.T.M., I.E.S.), and Department of Psychology (V.A.), The Royal Children's Hospital; Neuroscience of Speech Group, Clinical Sciences Theme (S.J.T., A.T.M.), Australian Centre for Child Neuropsychological Studies (A.B., M.A., V.A.), Murdoch Childrens Research Institute, Melbourne; Epilepsy Research Centre, Department of Medicine (I.E.S.), The University of Melbourne, Austin Health; and Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne, Australia.
Angela T
AT
Morgan
From the Department of Paediatrics, The University of Melbourne (S.J.T., M.A., V.A., A.T.M., I.E.S.), and Department of Psychology (V.A.), The Royal Children's Hospital; Neuroscience of Speech Group, Clinical Sciences Theme (S.J.T., A.T.M.), Australian Centre for Child Neuropsychological Studies (A.B., M.A., V.A.), Murdoch Childrens Research Institute, Melbourne; Epilepsy Research Centre, Department of Medicine (I.E.S.), The University of Melbourne, Austin Health; and Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne, Australia. scheffer@unimelb.edu.au.
Ingrid E
IE
Scheffer
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004401:Dysarthria / Q000235:genetics / Q000503:physiopathology*; D020820:Dyskinesias / Q000235:genetics / Q000503:physiopathology*; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D007802:Language; D008297:Male; D009048:Motor Skills; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D010641:Phenotype; D013060:Speech; D055815:Young Adult
D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human