Close
Title:
Health outcomes of children with rare or complex conditions and their families: a longitudinal cohort study using linked primary and secondary healthcare data in England - 52 - PPP
Supervisors:
Ania Zylbersztejn and Joachim Tan
Project Description:
Background: Rare or complex conditions (RCCs), such as congenital anomalies, genetic syndromes or inherited disorders, present significant physical, functional and social challenges for affected children, often requiring ongoing medical and/or surgical treatment. The resulting school absences and risk of educational underachievement compound the effect of social barriers in under-served communities and lead to greater risks of developing mental health problems. Caring for children with complex health needs is also likely to adversely affect parents’ and siblings’ physical and mental health. Synthesising evidence across both primary and secondary care settings enables the total health burden of RCCs on children and their families to be quantified. This resonates with the England Rare Diseases Action Plan 2022 for more holistic consideration of the support needs of individuals and their families across different services.
Aim: evaluate the mental and physical health and healthcare usage of children with RCCs and their families from birth to adulthood. Specific major congenital anomalies and inherited organ or metabolic disorders (e.g. sickle cell disease, congenital hypothyroidism, phenylketonuria) can be studied. Objectives: (1) estimate the prevalence of different subgroups of RCCs; (2) compare health outcomes and rates of healthcare interactions for children with RCCs versus their peers, examining variations by ethnicity, geographical region and area-based deprivation. Similar comparisons will be performed for (3) mothers of children with RCCs and (4) their siblings.
Methods: Longitudinal cohort study using administrative data, comprising primary care data from the Clinical Practice Research Datalink (CPRD) linked to Hospital Episode Statistics. Children born from 2002 registered in CPRD GP practices covering ~30% of the UK population (approximately 3.5 million individuals) will be followed up from birth until age 21. Data on mothers and siblings of affected children will be extracted using mother-baby link records. The student will define exposure groups using disease phenotype codelists, estimate prevalence and compare incidence of health events for children with RCCs, their mothers and siblings with their peers. Association with risk factors, adjusting for covariates, will be estimated using multilevel regression models to account for GP practice clustering; advanced techniques for addressing confounding and missing data will be used as required. Interactive visualisations may be developed in aid of Patient and Public Involvement and Engagement (PPIE) goals.
Timelines (months):
- 1-6: Systematic review of health outcomes of children with RCCs
- 4-12: Development of analysis cohorts and sub-cohorts; data-cleaning; identification of cases; PPIE groundwork
- 13-21: Analysis and write-up for Objectives 1 and 2
- 22-30: Analysis and write-up for Objectives 3 and 4
- 31-36: Consolidation and final write-up, PPIE and dissemination
References:
- Barker, M.M., et al. (2023). Incidence of anxiety and depression in children and young people with life-limiting conditions. Pediatric Research 93, 2081–2090.
- Zylbersztejn, A., et al. (2020). "Phenotyping congenital anomalies in administrative hospital records." Paediatric and Perinatal Epidemiology 34(1): 21-28.
- Tan, J., et al. (2023). “Risk factors for mortality in infancy and childhood in children with major congenital anomalies: A European population-based cohort study.” Paediatric and Perinatal Epidemiology 37(8): 679-690
Contact Information:
Joachim Tan