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Early communication characteristics of a case of SYNGAP1-related disorder
Dissertation (MA SLP)--University of Pretoria, 2025.
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| Format: | Thesis |
| Language: | English |
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University of Pretoria
2026
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| _version_ | 1869483872787365888 |
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| access_status_str | Open Access |
| author2 | Kruger, Esedra |
| author_browse | Kruger, Esedra |
| author_facet | Kruger, Esedra |
| collection | Thesis |
| dc_rights_str_mv | © 2024 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. |
| description | Dissertation (MA SLP)--University of Pretoria, 2025. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/108452 |
| institution | University of Pretoria (South Africa) |
| language | English |
| last_indexed | 2026-07-01T04:05:54.413Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2026 |
| publishDateRange | 2026 |
| publishDateSort | 2026 |
| publisher | University of Pretoria |
| publisherStr | University of Pretoria |
| record_format | dspace |
| source_str | UPSpace — University of Pretoria Institutional Repository |
| spelling | oai:repository.up.ac.za:2263/108452 Early communication characteristics of a case of SYNGAP1-related disorder Kruger, Esedra meghna.patel0203@gmail.com Eccles, Renata Wrigglesworth, Megan Patel, Meghna B UCTD Sustainable Development Goals (SDGs) Early communication characteristics Early communication characteristics Communication profile Genetic disorder Neurodevelopmental disorder Developmental delay Early communication intervention Speech and language therapy Augmentative and alternative communication Dissertation (MA SLP)--University of Pretoria, 2025. 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. Speech-Language Pathology and Audiology MA Speech-Language Pathology Restricted Faculty of Humanities SDG-03: Good health and well-being 2026-02-19T09:56:15Z 2026-02-19T09:56:15Z 2026-05 2025-12-15 Dissertation * April 2025 (A2025) http://hdl.handle.net/2263/108452 https://doi.org/10.25403/UPresearchdata.31362337 en © 2024 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. application/pdf University of Pretoria |
| spellingShingle | UCTD Sustainable Development Goals (SDGs) Early communication characteristics Early communication characteristics Communication profile Genetic disorder Neurodevelopmental disorder Developmental delay Early communication intervention Speech and language therapy Augmentative and alternative communication Early communication characteristics of a case of SYNGAP1-related disorder |
| title | Early communication characteristics of a case of SYNGAP1-related disorder |
| title_full | Early communication characteristics of a case of SYNGAP1-related disorder |
| title_fullStr | Early communication characteristics of a case of SYNGAP1-related disorder |
| title_full_unstemmed | Early communication characteristics of a case of SYNGAP1-related disorder |
| title_short | Early communication characteristics of a case of SYNGAP1-related disorder |
| title_sort | early communication characteristics of a case of syngap1 related disorder |
| topic | UCTD Sustainable Development Goals (SDGs) Early communication characteristics Early communication characteristics Communication profile Genetic disorder Neurodevelopmental disorder Developmental delay Early communication intervention Speech and language therapy Augmentative and alternative communication |
| url | http://hdl.handle.net/2263/108452 https://doi.org/10.25403/UPresearchdata.31362337 |