Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects
predominantly females. In most cases, RTT is associated with pathogenic variants in …

A common narrative relating to families of children with intellectual and developmental
disabilities (IDD) is that the child with IDD has a negative impact on the other members of …

Using family systems theory as a theoretical framework, we investigated direct and indirect
associations between type of disability, caregiver burden, and sibling relationships with …

Paradoxically, rare diseases are common, collectively affecting 6–10% of the population and
have a huge impact on patients and families, health services, clinicians and the wider …

Objective This research aimed to provide new knowledge about the emotional experiences
of siblings of children with rare disorders. Methods Qualitative thematic analysis was …

Background Family quality of life (FQOL) is a recent concept in intellectual/developmental
disability research. Outcomes for the family are important to the provision of services …

Living with a child who has a disability can pose significant financial, emotional and lifestyle
challenges for a family. Over the last 50 years, philosophies of service delivery to children …

Objectives Many people living with a rare disease (RD) are cared for by a family member.
Due to a frequent lack of individual RD knowledge from healthcare professionals, the patient …

Purpose Raising a child with Down syndrome (DS) brings unique challenges to parents'
psychological functioning. Extensive quantitative research has shown that these parents …

Background Young people with Down syndrome experience varying abilities in activities of
daily living, cognitive functioning, behaviour and social skills. The aim of this research was to …