The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Dysarthria and broader motor speech deficits in Dravet syndrome
Open accessAbstract
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.
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“speech 154 , sleep 155 , respiratory and gastrointestinal problems.”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [154]
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Lagae, L. G., Brambilla, I., Mingorance, A., Gibson, E., & Battersby, A. (2017) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.13591 · Cited by 195
Developmental and epileptic encephalopathies
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Self-citationGuidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe
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Metadata
- Authors
- Turner, S. J., Brown, A., Arpone, M., Anderson, V., Morgan, A. T., & Scheffer, I. E.
- Affiliations
- Royal Children's Hospital (AU)
- Venue
- Neurology
- Published
- 2017-02-21
- Volume
- 88
- Issue
- 8
- Pages
- 743-749
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC5344083
- OpenAlex
- W2585652737
- Cited by
- 33
- References
- 36
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 7 · 2023: 2 · 2022: 3 · 2021: 5 · 2020: 2 · 2019: 3 · 2018: 3 · 2017: 2
- FWCI
- 2.24
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Dravet syndrome, dysarthria, motor speech disorders, speech intelligibility, language impairment, SCN1A mutations, intellectual disability, prosody, postural control, motor planning, voice disorders, nasal resonance
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Dysarthria, Epilepsies, Myoclonic, Female, Humans, Infant, Language, Male, Motor Skills, Mutation, Phenotype, Speech, Cohort Studies, Dyskinesias, Young Adult, NAV1.1 Voltage-Gated Sodium Channel
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