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ORPHA:231178  Usher syndrome type 2

:: 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
Hearing/listening
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Unspecified
Receiving messages in sign language
Permanent limitation
Unspecified
Participating in a conversation
Permanent limitation
Low
Using communication devices
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Unspecified
Dealing with strangers
Permanent limitation
Moderate
Shopping
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Moderate
Frequent
Temporality
Severity
Seeing/watching
Permanent limitation
Severe
Seeing/watching
Permanent limitation
Low
Acquiring language
Permanent limitation
Moderate
Learning to read
Permanent limitation
Low
Learning to write
Permanent limitation
Low
Reading
Permanent limitation
Severe
Reading
Permanent limitation
Low
Writing
Permanent limitation
Severe
Writing
Permanent limitation
Low
Being aware of space
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Low
Speaking
Permanent limitation
Low
Writing messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Falling asleep
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Controlling one's own general behaviour
Permanent limitation
Low
Moving around within the home
Permanent limitation
Moderate
Driving
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Low
Carrying out administrative procedures
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Occasional
Temporality
Severity
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Socializing
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.

Light intensity
Light quality
Day/night cycles
Seasonal cycles
Sound intensity
Sound quality
Source: Pr Christian HAMEL[Expert]_ Usher Syndrome Coalition[Patient organisation]_Pr Birgit LORENZ[Expert]_Dr Markus PREISING[Expert]_Dr Saddek MOHAND-SAID[Expert]_Treatrush[Patient organisation]_Association Syndrome de Usher[Patient organisation]_Dr Gérard DUPEYRON[Expert]_Jesper DAMMEYER[Expert]
Last update: 25/08/2016

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