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ORPHA:893  WAGR 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
Moderate
Acquiring language
Acquisition delay
Moderate
Learning to read
Acquisition delay
Low
Learning to write
Acquisition delay
Severe
Learning to calculate
Acquisition delay
Severe
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Calculating
Permanent limitation
Severe
Focusing attention
Permanent limitation
Moderate
Memorizing and retrieving
Permanent limitation
Low
Thinking and reasoning
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Receiving spoken messages
Acquisition delay
Low
Receiving nonverbal messages
Acquisition delay
Low
Receiving written messages
Acquisition delay
Severe
Speaking
Acquisition delay
Moderate
Producing nonverbal messages
Acquisition delay
Severe
Writing messages
Acquisition delay
Severe
Participating in a conversation
Acquisition delay
Moderate
Using communication devices
Acquisition delay
Moderate
Reaching and catching objects
Acquisition delay
Low
Lifting and carrying objects
Acquisition delay
Low
Handling objects (fine hand use)
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Moderate
Washing oneself
Acquisition delay
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Unspecified
Regulating urination
Acquisition delay
Low
Regulating defecation
Acquisition delay
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Driving
Permanent limitation
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Unspecified
Attending mainstream school
Permanent limitation
Unspecified
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Unspecified
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Unspecified
Seeking employment
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Unspecified
Undertaking a complex/multiple task
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Frequent
Temporality
Severity
Hearing/listening
Acquisition delay
Unspecified
Being aware of time
Permanent limitation
Moderate
Being aware of space
Permanent limitation
Moderate
Standing
Acquisition delay
Low
Sitting
Acquisition delay
Low
Walking short distances
Acquisition delay
Low
Walking long distances
Acquisition delay
Unspecified
Dressing/undressing
Acquisition delay
Low
Eating
Acquisition delay
Unspecified
Drinking
Acquisition delay
Low
Falling asleep
Permanent limitation
Moderate
Staying asleep
Permanent limitation
Moderate
Getting good quality sleep
Acquisition delay
Severe
Handling emotions and mood
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Moderate
Controlling one's own eating behaviour
Permanent limitation
Unspecified
Moving around outside the home
Permanent limitation
Moderate
Using transportation
Permanent limitation
Unspecified
Interacting with other people
Permanent limitation
Unspecified
Making/keeping friends
Permanent limitation
Unspecified
Maintaining family relationships
Permanent limitation
Unspecified
Dealing with strangers
Permanent limitation
Unspecified
Shopping
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Unspecified
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Socializing
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Low
Travelling
Permanent limitation
Unspecified
Occasional
Temporality
Severity
Bending
Acquisition delay
Low
Transferring oneself
Acquisition delay
Low
Maintaining a standing position
Acquisition delay
Low
Maintaining head position
Acquisition delay
Low
Staying awake
Acquisition delay
Unspecified
Performing professional tasks
Permanent limitation
Unspecified
Not defined
Receiving messages in sign language
Producing messages in sign language
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.

Light intensity
Light quality
Day/night cycles
Sound intensity
Source: Expert
Last update: 29/06/2018

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