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 …

Caring for a child, particularly one with a rare disease, presents a challenging set of
stressors that can impact entire family networks. Given this shared impact, caregivers can …

Objective To investigate the determinants of quality of life (QoL) in children with inborn errors
of metabolism with restricted diet (IEMRDs) using a single theory-based multidimensional …

Communal coping may benefit caregivers, but most communal coping research focuses on
dyads. Using an egocentric network design, we examine caregivers' we-talk—a linguistic …

Background To investigate the impact of children's inborn error of metabolism (IEMs) on the
children's and their parents' lives from the parents' perspective. We focused on disease …

Objective The objective of this study was to compare the quality of life (QoL) for parents of
children with inborn errors of metabolism (IEMs) requiring a restricted diet with French …

Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a
diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children …

Objectives This study aimed to investigate the frequency and status of depression and
anxiety among mothers of children with inborn errors of metabolism (IEM) who were on a …

More than 650 inherited metabolic diseases may present with epilepsy or seizures. These
diseases are often multisystem, life-long and induce complex needs of patients and families …

Introduction Children with inherited metabolic diseases (IMDs) often have complex and
intensive healthcare needs and their families face challenges in receiving high-quality …