Orphanet: Disability
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ORPHA:363717  Alexander disease type I

:: 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
Permanent limitation
Unspecified
Learning to read
Permanent limitation
Unspecified
Learning to write
Permanent limitation
Unspecified
Learning to calculate
Permanent limitation
Unspecified
Reading
Permanent limitation
Unspecified
Writing
Permanent limitation
Unspecified
Calculating
Permanent limitation
Unspecified
Focusing attention
Permanent limitation
Unspecified
Memorizing and retrieving
Permanent limitation
Unspecified
Thinking and reasoning
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Receiving spoken messages
Permanent limitation
Unspecified
Receiving messages in sign language
Permanent limitation
Unspecified
Receiving nonverbal messages
Permanent limitation
Unspecified
Receiving written messages
Permanent limitation
Unspecified
Speaking
Permanent limitation
Unspecified
Producing messages in sign language
Permanent limitation
Unspecified
Producing nonverbal messages
Permanent limitation
Unspecified
Writing messages
Permanent limitation
Unspecified
Participating in a conversation
Permanent limitation
Unspecified
Using communication devices
Permanent limitation
Unspecified
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
Severe
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
Regulating urination
Permanent limitation
Severe
Regulating defecation
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
Shopping
Permanent limitation
Complete
Cooking/preparing meals
Permanent limitation
Complete
Doing housework
Permanent limitation
Complete
Looking after/helping others
Permanent limitation
Complete
Attending preschool
Permanent limitation
Complete
Attending mainstream school
Permanent limitation
Complete
Attending school in an adapted mainstream/special environment
Permanent limitation
Complete
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
Complete
Seeking employment
Permanent limitation
Complete
Performing professional tasks
Permanent limitation
Complete
Handling money/managing one's own budget
Permanent limitation
Complete
Carrying out administrative procedures
Permanent limitation
Complete
Undertaking a simple task
Permanent limitation
Complete
Undertaking a complex/multiple task
Permanent limitation
Complete
Carrying out daily routines
Permanent limitation
Complete
Taking part in community life
Permanent limitation
Complete
Playing with others
Permanent limitation
Complete
Socializing
Permanent limitation
Complete
Practicing sports
Permanent limitation
Complete
Participating in the arts and cultural activities
Permanent limitation
Complete
Travelling
Permanent limitation
Complete
Not defined
Getting good quality sleep
Handling stress, responsabilities, emergencies and ensuring one's safety
Handling emotions and mood
Controlling one's own general behaviour
Controlling one's own eating behaviour
Moving around within the home
Moving around outside the home
Using transportation
Driving
Source: [Expert]
Last update: 01/07/2019

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