Background and Objectives: Developmental and epileptic encephalopathies are severe epileptic syndromes that often co-occur with autism spectrum disorder and are associated with profound cognitive and language impairments. Pragmatic language deficits, a core feature in autism, are underexplored within this population. The aim of this thesis is twofold: To present a scoping review of the linguistic abilities and impairments, with emphasis on pragmatic competence, in individuals with Dravet syndrome, Landau-Kleffner syndrome, and West syndrome co-occurring with autism, and to present a case study of an adult with EE, focusing on pragmatic language. Design: A scoping review was conducted, with studies selected after searches in two databases. A case study is also reported. Results: Of the scoping review part, 21 studies were eligible at final selection according the inclusion criteria, targeting co-occurring EE and ASD with language impairments. Data on language modalities, assessment methods, and participant demographics were extracted and synthesized. Fifteen of them were group studies, 3 were case studies and 3 were case series. Only 7 of them presented with individual results. The selected studies indicate significant language impairment in language production, and common but variable deficits in comprehension. Pragmatic language deficits were reported, as revealed through testing on variables such as social communication, expressive language and conversational coherence. Regarding the empirical part, the patient’s speech was transcribed and analyzed, focusing on basic pragmatic notions in order to reveal his pragmatic competence. His linguistic profile showed preserved contextual relevance, implicature, and humor alongside difficulties with topic initiation, lexical retrieval, and autonomous conversational control. Conclusions: In sum, language impairment and pragmatic deficits are a significant aspect of the communication profiles of the patients with EE-ASD and call for targeted assessment and intervention. Further research using qualitative methods, especially targeting pragmatic competence, is essential to improve understanding and clinical care of these populations.
Ιωάννα Δ. Παπαθεοδώρου (Wed,) studied this question.