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. Dravet syndrome (DS) is an infantile-onset developmental epileptic encephalopathy with poor outcome. Typically, a 6-month-old infant presents with febrile hemiclonic status epilepticus in the setting of reputedly normal development, and then develops multiple seizure types over the next 4 years, with developmental slowing from 1-2 years of age.1 More than 80% of cases have mutations of the sodium channel gene SCN1A. Intellectual disability (ID) is usual, with almost all patients having severe ID.Speech and language function in adults and children with DS has not been specifically characterized. Three pediatric studies have examined language (understanding and use of words) in the context of a broader neuropsychological battery and include SCN1A positive and negative cases.2-4 The results are varied, ranging from cohorts with severe ID and severe language impairment to others with mild to moderate ID and borderline to average naming and comprehension.In terms of speech (how speech sounds are produced or articulated), dysarthria and speech planning difficulties have been reported anecdotally.2,4-6 Oral motor skills have not been investigated.We aimed to determine whether there was a characteristic developmental speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognition of progressive patterns of dysfunction will inform diagnosis and guide therapeutic intervention.