In a context of increasing international dialogue around the appropriate means and ends of
newborn screening programmes, it is critical to explore the perspectives of those directly …

As a psychologist and an ethicist, we have explored empirically newborn screening consent
and communication processes. In this paper we consider the impact on families if newborn …

Previous studies have suggested that cognitive and psychosocial underfunctioning in early‐
treated adults with phenylketonuria (PKU) may be explained by suboptimal adherence to …

Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects
in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of …

Abstract Background & Objectives This study aims to explore and elucidate parents'
experience of newborn screening [NBS], with the overarching goal of identifying desiderata …

Rare diseases constitute a group of conditions that are individually rare, but in aggregate
impact between 3 and 6% of the world population. Many of these conditions present during …

Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial
challenges. An increased understanding and awareness of these stressors can ensure …

Objective This study aimed to assess the impact of phenylketonuria (PKU) and its treatment
on parent and child health‐related quality of life (HRQoL) and to identify the parenting …

Problem Most rare diseases occur in childhood and are difficult to diagnose and treat. The
caregivers are faced with the challenge of providing care to the children afflicted with these …

Background Living with a non-acute (phenylketonuria) or acute (eg urea cycle disorders,
organic acidurias) intoxication-type inborn error of metabolism (IT-IEM) can have a …