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The behavioural profile of SYNGAP1-related Intellectual Disability - data and supplementary materials

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Scottish Government Open Data Portal2024-12-02 更新2026-05-09 收录
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https://www.research.ed.ac.uk/en/datasets/the-behavioural-profile-of-syngap1-related-intellectual-disabilit
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Contains questionnaire data and the supplementary materials for the upcoming publication: Wright, D, Kenny, A., Mizen, L.A.M., McKechanie, A.G., & Stanfield, A.G. 'The behavioural profile of SYNGAP1-related Intellectual Disability'This study aimed to describe the behavioural profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically-developing individuals completed the Vineland-3 Adaptive Behaviour Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviours and higher levels of internalising and externalising behaviours across almost all domains compared to typically developing controls. There was some evidence that these differences were greatest in older children, and more apparent in those with co-occuring epilepsy. This characterisation of the phenotype of SYNGAP1-ID significantly aids our understanding of the behavioural profile of this population and is a step towards the development of tailored interventions.
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2024-12-02
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