Table 1 Inclusion and exclusion criteria

Population

- Adults (≥ 18 y) with a rare genetic disease according to the Orphanet classification

- Studies including a broader population were included if i) presenting separate data on at least 6 or more persons with a rare genetic disease Ii) the mixed population included ≥ 80% of the study population with a rare genetic disease.

Concept - Topic of interest

- Studies presenting at least one aim of investigating prevalence, associations, intervention/treatment, experiences and other aspects of work participation, employment, work disability, vocational situation, measured with any kind of questions/questionnaire

Context

- Studies from all countries included

- Papers written in English, German, French and Nordic language, including an English abstract.

Type of publications

- Peer reviewed articles

- Original research, primary studies

- Secondary research studies: reviews

- All types of study designs published between 2000 and onwards.

Population

- People with rare genetic disease and cognitive affection, other non-genetic rare diseases, studies including less than 80% adults.

- Family members/caregivers/professionals to people with rare diseases or paediatric patients with RDs

- Studies with broader populations (i) presenting data on less than 6 cases (ii) or not separate results of ≥ 80% with genetic rare diseases of the study sample.

Concept – Topic of interest

- Studies including no information about work participation, employment, work disability, vocational situation.

Context

- No limitations

- Any other language

Type of publications

- Conference abstracts, commentaries, essays, consensus statements, book chapter reports, economic analyses, articles dealing with legal or ethical issues, unpublished data (grey literature), study protocols or guidelines.

- Papers published before 2000, due to the changes in work-related politics, work condition an attitudes to disability