Orphanet: Disability
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ORPHA:100  Ataxia-telangiectasia

:: 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
Very frequent
Temporality
Severity
Seeing/watching
Permanent limitation
Moderate
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Moderate
Speaking
Permanent limitation
Moderate
Writing messages
Permanent limitation
Low
Participating in a conversation
Permanent limitation
Low
Standing
Permanent limitation
Severe
Sitting
Permanent limitation
Severe
Bending
Permanent limitation
Severe
Transferring oneself
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Severe
Maintaining head position
Permanent limitation
Moderate
Reaching and catching objects
Permanent limitation
Severe
Lifting and carrying objects
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Severe
Walking short distances
Permanent limitation
Severe
Walking long distances
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Washing oneself
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Severe
Eating
Permanent limitation
Severe
Drinking
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Complete
Shopping
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Severe
Doing housework
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Complete
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Severe
Accessing higher education
Permanent limitation
Complete
Engaging in paid work in a standard environment
Permanent limitation
Complete
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Carrying out administrative procedures
Permanent limitation
Moderate
Undertaking a simple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Socializing
Permanent limitation
Low
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Low
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Attending mainstream school
Permanent limitation
Moderate
Occasional
Temporality
Severity
Using communication devices
Permanent limitation
Moderate
Not defined
Sleeping/staying awake
Engaging in sexual relationships
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.

Air quality
Source: Pr Thierry BILLETTE DE VILLEMEUR[Expert]
Last update: 15/07/2016

Warning

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.