Adrenal Insufficiency in Young Children: a Mixed Methods Study of Parents\u2019 Experiences

Richard Ross,Simon Dixon,Martin J Whitaker,Amy Simpson,Amy Hunter,John Porter

doi:10.1007/s10897-018-0278-9

Abstract

Research into adrenal insufficiency (AI) and congenital adrenal hyperplasia (CAH) in children has focused largely on clinical consequences for patients; and until recently, the wider experience of the condition from the perspective of other family members has been neglected. In a mixed methods study, we captured the experiences of parents of young children affected by AI/CAH, including their views on the psychosocial impact of living with and managing the condition. Semi-structured interviews were carried out in the UK and an online survey was developed, translated and disseminated through support groups (UK and the Netherlands) and outpatient endocrinology clinics (Germany). Challenges associated with diagnosis, treatment, support and the future were identified. For UK parents, the diagnosis period was characterised by a lack of awareness amongst healthcare professionals and occurrences of adrenal crisis. Parents reported burden, anxiety and disruption associated with the intensive treatment regimen. Parents adjusted and gained confidence over time yet found delegating responsibility for medication difficult and worried about the future for their child. Access to psychological support and contact with other families was reported as highly beneficial. The findings of the study provide critical context for future studies and for informing how parents and families can be better supported. Prenatal genetic counselling for parents who already have an affected child will include an explanation of recurrence risk but should also focus on providing information and reassurance about diagnostic testing and care for their newborn.

Highlights

Adrenal insufficiency (AI) is a rare condition in which the adrenal glands are unable to produce the essential stress hormone cortisol (Charmandari et al 2014)
Patients with primary AI including congenital adrenal hyperplasia (CAH) may be deficient in aldosterone which is important for controlling salt balance (‘salt-wasting’ CAH is severe and can be fatal; symptoms appear within days or weeks of birth)
The majority of parents had children aged 6 or younger at the time of the interview

Summary

Introduction

Adrenal insufficiency (AI) is a rare condition in which the adrenal glands are unable to produce the essential stress hormone cortisol (Charmandari et al 2014). Before the introduction of cortisol replacement therapy in the 1950s, death in an adrenal crisis and cardiovascular collapse was inevitable. AI is classified as primary or secondary; the most common cause for primary AI in children is congenital adrenal hyperplasia (CAH) which results from the inheritance of a mutation in an enzyme that controls production of cortisol. As a result of the low cortisol levels, the pituitary gland overstimulates the adrenal glands causing hyperplasia and oversecretion of androgens, which cause ambiguous genitalia and virilisation in female infants, precocious puberty in both boys and girls and infertility in adults. Patients with primary AI including CAH may be deficient in aldosterone which is important for controlling salt balance (‘salt-wasting’ CAH is severe and can be fatal; symptoms appear within days or weeks of birth)

Methods

Results

Discussion

Conclusion