Survey on Screening for Inborn Errors of Metabolism among Medical Professionals Caring for Children in Sri Lanka

Abstract

Introduction: Newborn screening (NBS) is one of the most efficient and effective ways of detecting disorders among neonates who can then be treated and have an improved quality of life. Inborn Errors of Metabolism (IEMs) are a group of rare metabolic diseases that can be diagnosed at birth. Objectives: To assess the level of knowledge and opinion on IEMs among medical professionals in paediatric and neonatology units in Sri Lanka Method: An online survey was carried out using an online questionnaire among paediatric / neonatology professionals in Sri Lanka from April to October 2021. Results: Participants were from the whole of Sri Lanka (n=320), but only 309 were included after excluding incomplete responses. There were 129 consultants, 124 postgraduate trainees, and the remainder were senior house officers. All respondents knew about the existing newborn screening for congenital hypothyroidism in Sri Lanka. The awareness on screening for congenital heart diseases, congenital adrenal hyperplasia glucose-6-phosphate dehydrogenase deficiency and congenital deafness was 94%, 71%, 34% and 33%, respectively. Of the participants 96% had encountered patients with IEM, and they felt that IEM were underdiagnosed in Sri Lanka. Two hundred and fifty (81%) had heard about expanded newborn screening (eNBS), but only 54% rated average knowledge. Whilst 84% participants have justified eNBS, 67% suggested implementing it immediately. Two out of three participants felt that it should be voluntary and government-funded. However, over 58% indicated screening only for atrisk babies. Conclusions: Of the paediatric / neonatology professionals participating in the survey, 96% had encountered patients with IEMs, and they felt that IEMs were underdiagnosed in Sri Lanka. Whilst 81% had heard about expanded newborn screening, over 58% advocated screening only at-risk babies.