Sleep problems in young people with 22q11.2 Deletion Syndrome: associations with the neurodevelopmental phenotype

Moulding, Hayley ORCID: https://orcid.org/0000-0002-1277-4404 2018. Sleep problems in young people with 22q11.2 Deletion Syndrome: associations with the neurodevelopmental phenotype. PhD Thesis, Cardiff University. Item availability restricted.

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Abstract

This is the first thesis to explore sleep problems in young people with 22q11.2 Deletion Syndrome. This thesis includes both subjective and objective methods of sleep assessment which have contributed to furthering academic knowledge of sleep problems in 22q11.2DS. Firstly, the prevalence, nature and severity of sleep problems in a sample of young people with 22q11.2DS compared to their unaffected siblings was determined. The prevalence of sleep problems was high in young people with 22q11.2DS (~60%) and that the high preponderance remained stable in small subsamples of toddlers, adolescents and adults. The nature of sleep problems in the young people with 22q11.2DS was elucidated, showing that more sleep problems associated with poorer psychopathology and cognitive impairment. Building on the foundations of the subjective assessment of sleep, objective measures were introduced to begin to explore the physiology of sleep in these young people. A pilot study with a small typically developing sample of young people was conducted to assess the feasibility of an overnight sleep study. Resultantly, an overnight sleep study was developed in a subsample of young people with 22q11.2DS and their unaffected siblings which included polysomnography (PSG), two-week actigraphy assessments with a sleep diary and validated sleep questionnaires. Actigraphy-derived sleep parameters were compared between 22q11.2DS and siblings showing some differences, in addition to differences in sleep parameters between the objective and subjective methods of assessment. Investigations into sleep architecture were few and small but provided a basis to build from when exploring the neurophysiology of sleep in young people with 22q11.2DS. Overall, the results from this thesis could have important implications for understanding sleep and its relationship with the neurodevelopmental phenotype in 22q11.2DS.

Item Type:	Thesis (PhD)
Date Type:	Submission
Status:	Unpublished
Schools:	Medicine
Date of First Compliant Deposit:	30 May 2019
Last Modified:	04 Nov 2022 12:24
URI:	https://orca.cardiff.ac.uk/id/eprint/122958

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