(Turner, et. al, 2017). This study, published in Neurology, examined the speech patterns of 20 patients with Dravet syndrome who had SCN1A mutations (inherited in 3 cases) by employing standardized assessments for speech and language. The authors found distinct features including oral motor impairment, imprecise articulation of consonants and vowels, and impairment in both receptive and expressive language, excluding the two youngest patients. More severe impairment was found in the older patients, with 3/4 of the verbal adults being moderately to severely unintelligible, though the authors note that previous studies where this trend was not apparent had a younger median age of patients with higher cognitive function, and interventions for Dravet syndrome are more targeted now than they have been in the past. Interestingly, one of the youngest patients (aged 15 months) inherited her SCN1A mutation from her mother, the oldest patient in the group (aged 28 years), who also has Dravet syndrome but exhibits an atypical presentation with normal speech intelligibility, normal intellect, and mild impairments in some areas such as articulation. Dysarthria, in which the muscles used for speech are weak or not well controlled, is common in neurological disorders, and this study suggests that targeted dysarthria therapy could potentially be beneficial to verbal patients with Dravet syndrome.

 

Turner SJ, Brown A, Arpone M, Anderson V, Morgan AT, Scheffer IE. Dysarthria and broader motor speech deficits in Dravet syndrome. Neurology. 2017 Feb 1. pii: 10.1212/WNL.0000000000003635. doi: 10.1212/WNL.0000000000003635. [Epub ahead of print] PubMed PMID: 28148630. https://www.ncbi.nlm.nih.gov/pubmed/28148630