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ORPHA:44  Neonatal adrenoleukodystrophy

:: 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
Severe
Hearing/listening
Permanent limitation
Severe
Acquiring language
Permanent limitation
Severe
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Severe
Reading
Permanent limitation
Severe
Writing
Permanent limitation
Severe
Calculating
Permanent limitation
Severe
Focusing attention
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Severe
Receiving messages in sign language
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Severe
Speaking
Permanent limitation
Severe
Producing messages in sign language
Permanent limitation
Severe
Producing nonverbal messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Severe
Using communication devices
Permanent limitation
Severe
Occasional
Temporality
Severity
Acquiring language
Permanent limitation
Moderate
Learning to read
Permanent limitation
Moderate
Learning to write
Permanent limitation
Moderate
Learning to calculate
Permanent limitation
Moderate
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Calculating
Permanent limitation
Moderate
Focusing attention
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Receiving spoken messages
Permanent limitation
Moderate
Receiving messages in sign language
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Moderate
Speaking
Permanent limitation
Moderate
Producing messages in sign language
Permanent limitation
Moderate
Producing nonverbal messages
Permanent limitation
Moderate
Writing messages
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Moderate
Not defined
Standing
Sitting
Bending
Transferring oneself
Maintaining a standing position
Maintaining head position
Reaching and catching objects
Lifting and carrying objects
Handling objects (fine hand use)
Walking short distances
Walking long distances
Performing vigorous activities (climbing, running, jumping, swimming,...)
Washing oneself
Caring for body parts (skin, teeth, nails, hair, genitals)
Regulating urination
Regulating defecation
Dressing/undressing
Eating
Drinking
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Moving around within the home
Moving around outside the home
Using transportation
Driving
Household
Education
Attending preschool
Attending mainstream school
Attending school in an adapted mainstream/special environment
Learning a profession (vocational training/apprenticeship) in the standard environment
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Accessing higher education
Work and economic life
Life management
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
Light
Sound
Air quality
Source: Expert
Last update: 03/12/2018

Additional information

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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.