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ORPHA:357027  Hereditary retinoblastoma

:: 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
Acquiring language
Permanent limitation
Unspecified
Learning to read
Permanent limitation
Unspecified
Learning to write
Permanent limitation
Unspecified
Reading
Permanent limitation
Unspecified
Writing
Permanent limitation
Unspecified
Focusing attention
Permanent limitation
Unspecified
Memorizing and retrieving
Permanent limitation
Unspecified
Being aware of space
Permanent limitation
Unspecified
Receiving messages in sign language
Permanent limitation
Unspecified
Receiving nonverbal messages
Permanent limitation
Unspecified
Receiving written messages
Permanent limitation
Unspecified
Producing messages in sign language
Permanent limitation
Unspecified
Producing nonverbal messages
Permanent limitation
Unspecified
Using objects
Permanent limitation
Unspecified
Reaching and catching objects
Permanent limitation
Unspecified
Handling objects (fine hand use)
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Unspecified
Drinking
Permanent limitation
Unspecified
Moving around outside the home
Permanent limitation
Unspecified
Moving around using transportation
Permanent limitation
Unspecified
Using transportation
Permanent limitation
Unspecified
Driving
Permanent limitation
Unspecified
Shopping
Permanent limitation
Unspecified
Cooking/preparing meals
Permanent limitation
Unspecified
Doing housework
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Accessing higher education
Permanent limitation
Unspecified
Seeking employment
Permanent limitation
Unspecified
Undertaking a complex/multiple task
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Frequent
Temporality
Severity
Writing messages
Permanent limitation
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Unspecified
Dressing/undressing
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Unspecified
Looking after/helping others
Permanent limitation
Unspecified
Attending preschool
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Performing professional tasks
Permanent limitation
Unspecified
Carrying out administrative procedures
Permanent limitation
Unspecified
Travelling
Permanent limitation
Unspecified
Occasional
Temporality
Severity
Hearing/listening
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Severe
Producing messages in sign language
Permanent limitation
Severe
Producing nonverbal messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Low
Using communication devices
Permanent limitation
Low
Making/keeping friends
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Low
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
Engaging in paid work in a standard environment
Permanent limitation
Complete
Seeking employment
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Low
Practicing sports
Permanent limitation
Unspecified
Participating in the arts and cultural activities
Permanent limitation
Unspecified
Not defined
Walking long distances
Staying awake
Source: Expert
Last update: 01/07/2019

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