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School experiences of children with rare genetic conditions associated with high risk for neurodevelopmental difficulties

O'Donovan, Lowri 2023. School experiences of children with rare genetic conditions associated with high risk for neurodevelopmental difficulties. PhD Thesis, Cardiff University.
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Neurodevelopmental copy number variants (ND CNVs) are rare genetic variants robustly associated with increased risk for neurodevelopmental conditions. The associated phenotype of ND CNVs is heterogeneous. This thesis explored an important childhood environmental experience, specifically school experiences, to elucidate whether such exposures could contribute to our understanding of phenotypic heterogeneity in this group. Children with ND CNVs were at increased risk for peer bullying compared to their unaffected siblings. Neurodevelopmental risk factors and increased age were positively associated with bullying experiences in both groups, however those with a ND CNV were likely to be at higher risk for reasons beyond their increased propensity for neurodevelopmental challenges. Almost 25% of parents who had a child with a ND CNV were unsatisfied with the support they received at school. Children with behavioural problems were more likely to have unsatisfied parents, whereas parents of children who had secured educational support (as measured by whether they had an educational health care plan (EHCP)) were more likely satisfied. Qualitative data provided insight into the circumstances in which parents were unsatisfied. Unhelpful learning environments, difficulties accessing higher levels of statutory support, limited understanding of children’s needs, limited resources, and inadequacy regarding the amount and type of support were implicated. Children meeting criteria for indicative autism spectrum disorder, intellectual disability or who had a de novo ND CNV were more likely to have an EHCP. Finally, semi-structured interviews with mothers of children with a genetic condition associated with neurodevelopmental challenges provided in-depth understanding about the impacts of receiving educational support and the impacts and experiences of navigating ‘the system’ in order to obtain it. This thesis contributes to our understanding about the environmental factors associated with phenotypic heterogeneity in children with ND CNVs.

Item Type: Thesis (PhD)
Date Type: Completion
Status: Unpublished
Schools: Medicine
Date of First Compliant Deposit: 8 April 2024
Last Modified: 08 Apr 2024 11:33

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