Early communication characteristics of a case of SYNGAP1-related disorder

Abstract

Background: Synaptic Ras GTPase activating protein 1-related disorder (SYNGAP1-RD) is a rare genetic condition caused by mutations found in the SYNGAP1 gene, often resulting in severely impaired early communication abilities. Despite early signs of communication delay, there is currently limited research describing the detailed communication profile of young children with SYNGAP1-RD. Given its complexity and severity, speech-language therapists need a greater understanding of the disorder’s influence on early communication characteristics to inform early communication intervention (ECI). Aim: This study aimed to describe the early communication characteristics of a young child diagnosed with SYNGAP1-RD. Method: An intrinsic single-case design utilised retrospective and prospective components to provide a comprehensive developmental continuum of the child’s early communication development between 2019 and 2024. Quantitative and qualitative data were collected and analysed using descriptive statistics and thematic analysis, respectively. Results: The findings underpinned communication as a core impairment of SYNGAP1-RD, with severe-to-profound delays (six-to-12 months and above) spanning across all communication domains. Minimal verbal expressive language of single-word utterances was reported after age three, before rapid deterioration was observed, leading to the child being non-verbal by age five. Speech motor planning and control symptoms were also evident; however, through early introduction of aided and unaided AAC, communication frustration following the deterioration of speech was reduced. The child was able to achieve single-word non-verbal expressive language to interact with others by age 7, demonstrating increased reliance on AAC over time. Conclusion: Team-based, family-centred ECI fostered active participation in daily interactions despite verbal speech and language deficits. The findings highlighted the importance of early and accurate identification, followed by a multimodal intervention approach to positively influence communication outcomes for children with SYNGAP1-RD.