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ORPHA:816  Sjögren-Larsson 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
Very frequent
Temporality
Severity
Acquiring language
Acquisition delay
Severe
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Complete
Reading
Permanent limitation
Severe
Writing
Permanent limitation
Severe
Calculating
Permanent limitation
Complete
Focusing attention
Permanent limitation
Moderate
Thinking and reasoning
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Severe
Speaking
Permanent limitation
Moderate
Writing messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Moderate
Standing
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Severe
Lifting and carrying objects
Permanent limitation
Severe
Walking long distances
Permanent limitation
Complete
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Complete
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
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
Attending mainstream school
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
Complete
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
Complete
Performing professional tasks
Permanent limitation
Complete
Handling money/managing one's own budget
Permanent limitation
Severe
Carrying out administrative procedures
Permanent limitation
Complete
Undertaking a complex/multiple task
Permanent limitation
Severe
Practicing sports
Permanent limitation
Complete
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Frequent
Temporality
Severity
Using communication devices
Permanent limitation
Moderate
Using communication devices
Acquisition delay
Severe
Reaching and catching objects
Permanent limitation
Low
Walking short distances
Permanent limitation
Severe
Walking short distances
Acquisition delay
Severe
Washing oneself
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Dressing/undressing
Acquisition delay
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Carrying out daily routines
Acquisition delay
Moderate
Occasional
Temporality
Severity
Speaking
Acquisition delay
Severe
Writing messages
Acquisition delay
Severe
Participating in a conversation
Acquisition delay
Severe
Moving around within the home
Permanent limitation
Severe
Moving around outside the home
Acquisition delay
Severe
Using transportation
Acquisition delay
Severe
Shopping
Acquisition delay
Severe
Cooking/preparing meals
Acquisition delay
Severe
Doing housework
Acquisition delay
Severe
Looking after/helping others
Acquisition delay
Severe
Attending mainstream school
Permanent limitation
Severe
Undertaking a complex/multiple task
Acquisition delay
Severe
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.

Temperature
Light intensity
Source: Expert
Last update: 07/08/2018

Additional information

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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.