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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“speech 154 , sleep 155 , respiratory and gastrointestinal problems.”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [154]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Wechsler Abbreviated Scale of Intelligence
Dumont, R., Willis, J. O., Veizel, K., & Zibulsky, J. (2014) · Wiley eBooks · doi:10.1002/9781118660584.ese2519 · Cited by 5,546
Wechsler Abbreviated Scale of Intelligence
Wechsler, D. (1999) · PsycTESTS Dataset · doi:10.1037/t15170-000 · Cited by 4,681
Peabody Picture Vocabulary Test
Campbell, J. M., & Dommestrup, A. K. (2010) · The Corsini Encyclopedia of Psychology · doi:10.1002/9780470479216.corpsy0649 · Cited by 3,787
Peabody Picture Vocabulary Test
(2007) · Sage eBooks · doi:10.4135/9781412952644.n336 · Cited by 1,757
Epileptic Syndromes in Infancy, Childhood and Adolescence
Rogers, J., Bureau, M., Dravet, C., Dreifuss, F. E., Perret, A. P., Wolf, P., & Armstrong, D. L. (1993) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199307000-00012 · Cited by 1,465
Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A., Kalume, F., Burton, K. A., Spain, W. J., McKnight, G. S., Scheuer, T., & Catterall, W. A. (2006) · Nature Neuroscience · doi:10.1038/nn1754 · Cited by 1,173
Bayley Scales of Infant and Toddler Development
Aylward, G. P. (2017) · Springer eBooks · doi:10.1007/978-3-319-56782-2_1522-2 · Cited by 958
Dumont, R., & Willis, J. O. (2008) · Wiley eBooks · doi:10.1002/9780470373699.speced0804 · Cited by 948
de López, K. M. J. (2010) · Cited by 877
Frenchay Dysarthria Assessment
Enderby, P. (1980) · International Journal of Language & Communication Disorders · doi:10.3109/13682828009112541 · Cited by 601
Research works printed but not linked: 4
- Hayden D, Wetherby AM, Cleary JE, Prizant BM. Early Motor Control Scales: Prepublication Version. Baltimore: Paul H. Brookes Publishing Co.; 2011.
- Zimmerman I, Steiner V, Pond R. Preschool Language Scales, Australian and New Zealand Language Adapted Edition, 5th ed. Sydney: Pearson; 2011.
- Semel E, Wiig E, Secord W. Clinical evaluation of language fundamentals. In: Australian Standardised Edition, 4th ed. Marrickville, Australia: Harcourt Assessment; 2006.
- Wechsler D. Wechsler Intelligence Scale for Children, Australian Standardised Edition, 4th ed. Sydney: Pearson Clinical and Talent Assessment; 2005.
Cited by
Sorted by citations
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
Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00546-6 · Cited by 158
Self-citationGuidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe
Cardenal‐Muñoz, E., Auvin, S., Villanueva, V., Cross, J. H., Zuberi, S. M., Lagae, L. G., & Aibar, J. Á. (2021) · Epilepsia Open · doi:10.1002/epi4.12569 · Cited by 98
A systematic review of adults with Dravet syndrome
Selvarajah, A., Ali, Q. Z., Marques, P., Rong, M., & Andrade, D. M. (2021) · Seizure · doi:10.1016/j.seizure.2021.02.025 · Cited by 77
The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review
Sullivan, J. E., Deighton, A. M., Vila, M. C., Szabo, S. M., Maru, B. S., Gofshteyn, J. S., James, E. S., Rico, S., & Zuberi, S. M. (2022) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2022.108661 · Cited by 76
Intellectual functioning and behavior in Dravet syndrome: A systematic review
Jansson, J. S., Hallböök, T., & Reilly, C. J. (2020) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107079 · Cited by 73
Ouss, L., Leunen, D., Laschet, J. J., Chémaly, N., Barcia, G., Losito, E., Aouidad, A., Barrault, Z., Desguerre, I., Breuillard, D., et al. (2018) · Epilepsia Open · doi:10.1002/epi4.12281 · Cited by 69
Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults
Darra, F., Battaglia, D., Dravet, C., Patrini, M., Offredi, F., Chieffo, D. R. P., Piazza, E., Fontana, E., Olivieri, G., Turrini, I., et al. (2019) · Epilepsia · doi:10.1111/epi.16297 · Cited by 48
Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome
Brown, A. M., Arpone, M., Schneider, A., Micallef, S., Anderson, V. A., & Scheffer, I. E. (2020) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107319 · Cited by 43
Self-citationDelayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome
Yuan, Y., O’Malley, H. A., Smaldino, M. A., Bouza, A. A., Hull, J. M., & Isom, L. L. (2019) · Scientific Reports · doi:10.1038/s41598-019-42191-0 · Cited by 44
Scheffer, I. E., Hulihan, J., Messenheimer, J. A., Ali, S. S., Keenan, N. F., Griesser, J., Gutterman, D. L., Sebree, T. B., & Sadleir, L. G. (2021) · JAMA Network Open · doi:10.1001/jamanetworkopen.2021.23930 · Cited by 43
Self-citationCognitive and Social Outcomes of Epileptic Encephalopathies
Nickels, K. C., & Wirrell, E. C. (2017) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2017.10.001 · Cited by 31
Adolescent behavioral abnormalities in a Scn1a+/− mouse model of Dravet syndrome
Bahceci, D., Anderson, L. L., Brown, C., Zhou, C., & Arnold, J. C. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2019.106842 · Cited by 30
Toward the Language Oscillogenome
Murphy, E., & Benítez‐Burraco, A. (2018) · Frontiers in Psychology · doi:10.3389/fpsyg.2018.01999 · Cited by 30
Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study
Myers, K. A., Davey, M. J., Ching, M. S., Ellis, C. A., Grinton, B. E., Roten, A., Lightfoot, P. A., & Scheffer, I. E. (2018) · Journal of Clinical Sleep Medicine · doi:10.5664/jcsm.7376 · Cited by 26
Self-citationDravet syndrome: A quick transition guide for the adult neurologist
Andrade, D. M., Berg, A. T., Hood, V. L., Knupp, K. G., Koh, S., Laux, L., Meskis, M. A., Miller, I., Perry, M. S., Scheffer, I. E., et al. (2021) · Epilepsy Research · doi:10.1016/j.eplepsyres.2021.106743 · Cited by 27
Self-citationReilly, C. J., Bjurulf, B., & Hallböök, T. (2022) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15495 · Cited by 20
Deconstructing Dravet syndrome neurocognitive development: A scoping review
Bertuccelli, M., Verheyen, K., Hallemans, A., Sander, J. W. A. S., Ragona, F., Bisiacchi, P. S., Masiero, S., & Felice, A. D. (2021) · Epilepsia · doi:10.1111/epi.16844 · Cited by 18
Reilly, C. J., Bjurulf, B., & Hallböök, T. (2024) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15937 · Cited by 16
Jansson, J. S., Bjurulf, B., Dellenmark‐Blom, M., Hallböök, T., & Reilly, C. J. (2024) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2023.109603 · Cited by 13
Gastrointestinal and eating problems in SCN1A-related seizure disorders
Minderhoud, C. A., Postma, A., Jansen, F. E., Verhoeven, J. S., Schrijver, J. J., Goudswaard, J., Andreae, G., Otte, W. M., Braun, K. P. J., & Brilstra, E. H. (2023) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2023.109361 · Cited by 14
Reilly, C. J., Bjurulf, B., & Hallböök, T. (2024) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2024.110102 · Cited by 9
Motor Speech Phenotypes in Children With Epilepsy: Preliminary Findings
Allison, K. M., Stoeckel, R. E., Olsen, E., Tallman, S., & Iuzzini-Seigel, J. (2023) · American Journal of Speech-Language Pathology · doi:10.1044/2022_ajslp-22-00176 · Cited by 9
Porto, C., Perulli, M., Arpaia, C., Villa, M., Arcangeli, V., Quintiliani, M., Gambardella, M. L., Brando, C., Contaldo, I., Veredice, C., et al. (2024) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2024.109888 · Cited by 7
McTague, A., Scheffer, I. E., Kullmann, D. M., & Sisodiya, S. M. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-90820-7.00016-1 · Cited by 6
Self-citationManagement of Developmental and Epileptic Encephalopathies
Vasquez, A., & Fine, A. L. (2025) · Seminars in Neurology · doi:10.1055/a-2534-3267 · Cited by 7
Nonseizure Outcomes in Dravet Syndrome: Potential Impact of Pharmacotherapy
Swindler, A., Harper, A. J., Hendry, K., Strzelczyk, A., Reilly, C. J., & Brunklaus, A. (2025) · CNS Drugs · doi:10.1007/s40263-025-01212-5 · Cited by 4
Heineman, K. R., Hielkema, T., Teunissen, M. W. A., & van den Berg, L. (2025) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2025.106441 · Cited by 4
Papatheodorou, I., Stavrakaki, S., Koukoulioti, V., Spilioti, M. G., & Kimiskidis, V. Κ. (2024) · Medicina · doi:10.3390/medicina60101635 · Cited by 2
Motor and behavioral phenotype of Dravet syndrome in adulthood
Martin, P., & Kümmerle, A. (2022) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2022.108601 · Cited by 2
Safari, M., Desai, R. P., Rai, H., Roberts, T., Khondaker, R., Smith, J., & Swanger, S. A. (2026) · Journal of Neurophysiology · doi:10.1152/jn.00064.2026 · Cited by 1
Pedersen, M., Nashaat, N. H., Camesasca, V., Villoria, R. H., & Das, S. (2026) · Springer eBooks · doi:10.1007/978-3-032-03134-1 · Cited by 1
Genetics and the Application of Voice-Related Biomarkers
Pedersen, M., & Nashaat, N. H. (2026) · Springer eBooks · doi:10.1007/978-3-032-03134-1_12
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
