Work participation in adults with rare genetic diseases - a scoping review.

Background: Work participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite that work participation is a social determinant of health and seems necessary for understanding health behaviours and quality of life, it is an under-researched and under-recognized aspect in many rare diseases. The objectives of this study was to map and describe existing research on work participation, identify research gaps, and point to research agendas in a selection of rare genetic diseases.

Children with congenital limb deficiency in Norway: issues related to school life and health-related quality of life. A cross-sectional study.

Purpose: To describe clinical features, issues related to school life and health-related quality of life (HRQOL) for children with congenital limb deficiency (CLD) and compare these children to Norwegian school children on HRQOL.

Method: Cross-sectional study. In 2010, a postal questionnaire, designed for this study and the Paediatric Quality of Life Inventory (PedsQL), was sent to 154 eligible parents of children with CLD, aged 6-18 years and registered at TRS National Resource Centre for Rare Disorders in Norway.

Health-related quality of life for children with rare diagnoses, their parents' satisfaction with life and the association between the two.

Purpose: To examine children's health-related quality of life and parents' satisfaction with life and explore the association between the two in families where a child has a rare disorder.

Methods: We used a cross-sectional study design. A questionnaire was sent to parents of 439 school children (6-18 years) with congenital rare disorders.