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ORPHA:125  Bloom syndrome

:: Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

 Loss of an ability
Frequent
Temporality
Severity
Driving
Permanent limitation
Low
Dealing with strangers
Transient limitation
Low
Engaging in and maintaining intimate relationships
Transient limitation
Low
Practicing sports
Transient limitation
Moderate
Occasional
Temporality
Severity
Interacting with other people
Transient limitation
Low
Making/keeping friends
Transient limitation
Low
Shopping
Transient limitation
Low
Cooking/preparing meals
Transient limitation
Low
Doing housework
Transient limitation
Low
Attending preschool
Transient limitation
Low
Attending mainstream school
Transient limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Transient limitation
Low
Accessing higher education
Transient limitation
Low
Engaging in paid work in a standard environment
Transient limitation
Low
Seeking employment
Transient limitation
Low
Socializing
Transient limitation
Low
Travelling
Transient limitation
Low
Environmental factors

:: Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Food
Temperature
Light intensity
Day/night cycles
Seasonal cycles
Source: Expert
Last update: 03/12/2018

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