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ORPHA:726  Alpers-Huttenlocher 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
Seeing/watching
Permanent limitation
Complete
Hearing/listening
Permanent limitation
Severe
Acquiring language
Permanent limitation
Complete
Learning to read
Permanent limitation
Complete
Learning to write
Permanent limitation
Complete
Learning to calculate
Permanent limitation
Complete
Reading
Permanent limitation
Complete
Writing
Permanent limitation
Complete
Calculating
Permanent limitation
Complete
Focusing attention
Permanent limitation
Complete
Memorizing and retrieving
Permanent limitation
Complete
Thinking and reasoning
Permanent limitation
Complete
Making decisions/taking initiatives/finding solutions
Permanent limitation
Complete
Being aware of time
Permanent limitation
Complete
Being aware of space
Permanent limitation
Complete
Receiving spoken messages
Permanent limitation
Complete
Receiving messages in sign language
Permanent limitation
Complete
Receiving nonverbal messages
Permanent limitation
Complete
Receiving written messages
Permanent limitation
Complete
Speaking
Permanent limitation
Complete
Producing messages in sign language
Permanent limitation
Complete
Producing nonverbal messages
Permanent limitation
Complete
Writing messages
Permanent limitation
Complete
Participating in a conversation
Permanent limitation
Complete
Using communication devices
Permanent limitation
Complete
Standing
Permanent limitation
Complete
Sitting
Permanent limitation
Complete
Bending
Permanent limitation
Complete
Transferring oneself
Permanent limitation
Complete
Maintaining a standing position
Permanent limitation
Complete
Maintaining head position
Permanent limitation
Complete
Reaching and catching objects
Permanent limitation
Complete
Lifting and carrying objects
Permanent limitation
Complete
Handling objects (fine hand use)
Permanent limitation
Complete
Walking short distances
Permanent limitation
Complete
Walking long distances
Permanent limitation
Complete
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Complete
Washing oneself
Permanent limitation
Complete
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Complete
Regulating urination
Permanent limitation
Complete
Regulating defecation
Permanent limitation
Complete
Dressing/undressing
Permanent limitation
Complete
Eating
Permanent limitation
Complete
Drinking
Permanent limitation
Complete
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Complete
Staying asleep
Permanent limitation
Severe
Getting good quality sleep
Permanent limitation
Severe
Staying awake
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Complete
Handling emotions and mood
Permanent limitation
Complete
Controlling one's own general behaviour
Permanent limitation
Complete
Controlling one's own eating behaviour
Permanent limitation
Complete
Moving around within the home
Permanent limitation
Complete
Moving around outside the home
Permanent limitation
Complete
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Complete
Making/keeping friends
Permanent limitation
Complete
Maintaining family relationships
Permanent limitation
Complete
Dealing with strangers
Permanent limitation
Complete
Engaging in and maintaining intimate relationships
Permanent limitation
Complete
Engaging in sexual relationships
Permanent limitation
Complete
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
Occasional
Temporality
Severity
Falling asleep
Permanent 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
Source: Expert
Last update: 08/08/2018

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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.