About 2% of babies are born with a major birth defect, where one or more body organs fail to develop or function properly. Some inherited conditions are less visible at birth (and are screened for in newborn babies) but if untreated they can disrupt organ function or metabolism and lead to serious illness. These rare and complex diseases are a major cause of early death or long-term illness and disability. Children with these conditions are more likely to require specialised medical services and have frequent contact with healthcare services than other children. Caring and seeking support from services for a child with a rare or complex disease can be a major source of stress for parents, contributing to development of mental and physical health problems. We also know little about the impact on siblings.
Our study aims to describe the health experiences of children with birth defects or rare diseases that newborns are screened for and determine how these vary according to sex, ethnicity, area deprivation and UK region. We will compare their outcomes with those of their peers, such as other children registered in the same GP practices. We will also link the records of children and their mothers and siblings, to look at the health of family members. The study’s findings will inform policies to support children with complex health needs as well as their families, to improve their overall wellbeing through childhood to early adulthood.
Rare or complex diseases (RCDs) in children are frequently present at birth and have serious health, functional and social consequences for affected individuals. We aim to describe the mental and physical health of children with RCDs and their families in England. We focus on two groups of conditions present from birth: major congenital anomalies (MCAs); and serious inherited conditions that are screened for in newborns (e.g. sickle cell or cystic fibrosis).
We will analyse linked data from the Clinical Practice Research Datalink (CPRD), Hospital Episode Statistics (HES), ONS mortality, Mother-Baby Link (MBL), Index of Multiple Deprivation (IMD) and CPRD Ethnicity Records. We describe the prevalence of RCDs in HES, ONS and CPRD using a longitudinal cohort of children born between 2002-2022 (or latest available). We will compare health outcomes (mental health, chronic conditions, death) and rates of healthcare contacts (GP visits, prescriptions, secondary healthcare interactions) in children with RCDs and their unaffected peers. We will investigate variation in these outcomes by socio-demographic and geographical factors.
We will describe the health of mothers and siblings using MBL to understand the broader impact of childhood diseases on families. We will describe the incidence of mental and physical health problems and indicators of stress and ill-health in mothers of children with and without RCDs. We will describe the health outcomes of siblings (indicated by other children linked to the same mother).
We will estimate incidence rate ratios using Poisson/negative binomial regression and odds/risk ratios using logistic/log-binomial regression. Cox proportional hazards models will be used to examine factors associated with survival and diagnosis of chronic conditions.
Our findings will provide important prognostic information for families/carers and healthcare professionals working with children with RCDs, and guide the planning of support and services for growing population of children with RCDs.
Objective 1: prevalence of RCDs:
Prevalence of major congenital anomalies (MCAs) (overall and by subgroup);
Prevalence of conditions included the newborn blood spot screening (NBS) programme in the UK (overall and by subgroup);
Objectives 2 and 4: health of children with RCDs and their siblings:
Primary: incidence of co-existing mental health or chronic conditions; rates of primary care consultations, hospital admissions (overall, planned, unplanned);
Secondary: rates of prescriptions in primary care, cause-specific primary care consultations and hospital admissions, hospital outpatient consultations, A&E attendances; rates of all-cause and cause-specific mortality
Objective 3: health of mothers:
Primary: incidence of mental illness; rates of primary care consultations;
Secondary: rates of prescriptions in primary care, cause-specific primary care consultations; referral to secondary or specialist care
Pia Hardelid - Chief Investigator - University College London ( UCL )
Joachim Tan - Corresponding Applicant - University College London ( UCL )
Aidan Cross - Collaborator - University College London ( UCL )
Ania Zylbersztejn - Collaborator - University College London ( UCL )
Linda Wijlaars - Collaborator - University College London ( UCL )
Muhammad Qummer ul Arfeen - Collaborator - University College London ( UCL )
Paolo De Coppi - Collaborator - University College London ( UCL )
Paul Gissen - Collaborator - University College London ( UCL )
Rachel Knowles - Collaborator - University College London ( UCL )
HES Accident and Emergency;HES Admitted Patient Care;HES Outpatient;ONS Death Registration Data;Patient Level Index of Multiple Deprivation;CPRD Aurum Ethnicity Record;CPRD Aurum Mother-Baby Link;CPRD GOLD Ethnicity Record;CPRD GOLD Mother-Baby Link