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Abstract
There is currently very little information available about the disabilities encountered
by rare disease (RD) patients. Orphanet [http://www.orpha.net], the international
database and portal on RDs and orphan drugs, has developed various projects to improve
the knowledge and visibility of disabilities associated with RDs, and to provide tools
to help the stakeholders.
First, we have added content to the texts of the Orphanet Encyclopaedia for the General
Public (133 texts) about the daily difficulties associated with the disease and its
management. This information is provided through three questions: “What disabilities
result from the disease?”, “What resources are available to limit and prevent the
disability?” and “Living with: the disability on a daily basis”. These texts are validated
by medical experts, disability specialists and patient support groups.
Secondly, we have created a specialised collection of texts dedicated to professionals
and social service providers, the Orphanet Disability Encyclopaedia. It focuses on
the disabilities associated with a specific RD. These disability factsheets provide
a brief overview of the medical aspects of the disease, validated by medical experts,
and include a description of the disabilities experienced by patients and their management.
Fifteen texts are currently available in French.
Finally, with the Orphanet Disability Project, we index the functional consequences
of each RD with the Orphanet Functioning Thesaurus, adapted from the “Activities and
participation” and “Environmental factors” domains of the International Classification
of Functioning, Disability and Health-Children & Youth version (ICF-CY [1]), as well
as additional terms to describe cognitive abilities, sleep, temperament and behaviour.
Through a questionnaire sent to medical experts, disability specialists and patient
organisations, we collect data for each RD: the activity limitations and participation
restrictions, their temporality during the course of the disease (permanent or transient
difficulty, delay, loss of abilities), their severity and respective frequency in
the patient population with current standard management, and important environmental
factors. The collected data is analysed and standardised to constitute the Orphanet
Functioning Database. 857 RDs are already indexed and 540 more are in progress, thanks
to the contribution of hundreds of people and organisations from 43 countries. These
RD disability core sets, which can be integrated into information systems, will be
freely available in 7 languages. In addition, we will map the “Body structures” and
the “Body functions” domains of the ICF-CY to the Human Phenotype Ontology [2], enabling
us to list the anatomical structures and physiological functions impaired for each
RD.
This information will increase knowledge and aid in better evaluating and managing
the daily difficulties and needs experienced by RD patients. It can also help social
agencies in distributing appropriate disability compensation measures with equity
and equality. Finally, it will enable decision makers to assess the social burden
of RDs and can be utilised in the set-up of measures that will allow for the better
social integration of disabled people with RDs.
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