McKenna, Caoimhe;
(2021)
The health and care of children with Down Syndrome.
Doctoral thesis (M.D(Res)), UCL (University College London).
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Abstract
Down Syndrome (DS) affects ~10,500 children in the UK. Individuals with DS continue to have poorer health outcomes compared with the general population, and other forms of intellectual disability. By systematically mapping two decades of paediatric DS literature, I found a general decline in the number of publications, since 2014. The majority of publications utilised observational methodologies, with few interventional (5.6%) or qualitative/mixed-method studies (4.3%). Most publications focused on development & cognition, oncology and neurology; relatively few looked at the prevalence of morbidities and health surveillance. Using a large electronic health record dataset I determined the prevalence of morbidities among individuals with DS (N=4,648, age range 0-75 years), and compared with matched controls. The most prevalent morbidities in the DS cohort were hypothyroidism (30.4%), congenital cardiac disease (27.8%), epilepsy (21.9%) and hearing impairment (19.2%). We also found an increased risk of autism (aOR 7.7), chronic kidney disease (aOR 2.3), inflammatory bowel disease (aOR 2.4), non-accidental injury (aOR 1.9), sleep disordered breathing (SDB) (aOR 6.6) and vitamin-D deficiency (aOR 3.1). Finally, I explored current practice with regard to the routine health surveillance of children with DS, in paediatric departments across the UK. Sixty four departments returned a copy of their local health surveillance protocol. Practice was compared across departments, and with three national guidelines. For congenital cardiac disease, hypothyroidism and hearing/visual impairment, practice appeared to be consistent and compliant with national guidelines. However, in other areas (echocardiogram at transition, SBD, vitamin-D deficiency & renal/liver function), practice was patchy and inconsistent. The findings highlight a need for ongoing research in the field of paediatric DS, targeted at areas of greatest need, and those morbidities which are prevalent in the DS cohort. Furthermore, our findings highlight a need a single, evidence based guideline for the health surveillance of children with DS, to promote high quality, consistent care.
| Type: | Thesis (Doctoral) |
|---|---|
| Qualification: | M.D(Res) |
| Title: | The health and care of children with Down Syndrome |
| Event: | University College London (UCL) |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| Additional information: | Copyright © The Author 2021. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10134480 |
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