Dysarthria and broader motor speech deficits in Dravet syndrome.
Neurology
; 88(8): 743-749, 2017 Feb 21.
Article
em En
| MEDLINE
| ID: mdl-28148630
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Epilepsias Mioclônicas
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Discinesias
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Disartria
Tipo de estudo:
Etiology_studies
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Incidence_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2017
Tipo de documento:
Article