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.
