Linguistic and communicative profile of children with Dravet Syndrome: A descriptive case series

Dravet Syndrome (DS) is a severe early-onset epileptic encephalopathy associated with mutations in the alpha-1 sodium channel of the SCN1A gene. It is characterized by pharmacoresistant seizures and progressive deterioration in motor, cognitive, and communicative areas. Studies have shown significant alterations in language development, particularly in expressive language.

A descriptive case study was conducted. The sample consisted of six Spanish-speaking children with DS, aged 2 years 9 months to 6 years 5 months, one of whom had a comorbid diagnosis of autism spectrum disorder (ASD). All participants were living in Spain. The instruments used were the Battelle Developmental Inventory, the Reynell Developmental Language Scales III, the Peabody Picture Vocabulary Test (PPVT-5), and the MacArthur-Bates Communicative Development Inventory adapted for Down syndrome.

The results showed delays across multiple developmental domains, including motor, adaptive, communication, and language abilities, with considerable interindividual variability. Across cases, global developmental and language-equivalent ages were below chronological age, although the magnitude and pattern of delay varied considerably across developmental domains and participants. Parent-report information obtained through the MacArthur-Bates Communicative Development Inventories complemented direct standardized assessment, particularly when behavioural or attentional difficulties limited the completion of some measures.

The findings are consistent with previous literature indicating that expressive language may be more affected than receptive language in children with DS. The results also highlight substantial variability in the relationship between language abilities and broader developmental functioning, supporting the use of multidimensional and individualized assessment approaches. The role of speech-language therapists within interdisciplinary teams is particularly relevant for early identification and individualized intervention planning.