Search for a disease and its functional consequences
ORPHA:231169 Usher syndrome type 1
:: 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
Severe
Learning to read
Permanent limitation
Severe
Being aware of space
Permanent limitation
Severe
Standing
Acquisition delay
Moderate
Sitting
Acquisition delay
Moderate
Bending
Acquisition delay
Moderate
Reaching and catching objects
Permanent limitation
Severe
Walking short distances
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Moving around within the home
Permanent limitation
Low
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Complete
Dealing with strangers
Permanent limitation
Unspecified
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Low
Carrying out daily routines
Permanent limitation
Moderate
Socializing
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Participating in the arts and cultural activities
Permanent limitation
Unspecified
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Hearing/listening
Permanent limitation
Complete
Learning to write
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Severe
Focusing attention
Permanent limitation
Moderate
Memorizing and retrieving
Permanent limitation
Moderate
Receiving spoken messages
Permanent limitation
Complete
Receiving messages in sign language
Permanent limitation
Severe
Receiving messages in sign language
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Severe
Speaking
Permanent limitation
Severe
Speaking
Permanent limitation
Moderate
Writing messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Severe
Using communication devices
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Falling asleep
Permanent limitation
Moderate
Handling emotions and mood
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Complete
Interacting with other people
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Unspecified
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Low
Undertaking a complex/multiple task
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Moderate
Occasional
Temporality
Severity
Hearing/listening
Permanent limitation
Moderate
Thinking and reasoning
Acquisition delay
Moderate
Receiving spoken messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Low
Producing messages in sign language
Permanent limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Low
Dressing/undressing
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Severe
Maintaining family relationships
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
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: Dr Saddek MOHAND-SAID[Expert]_Treatrush[Patient organisation]_Pr Christian HAMEL[Expert]_Association Syndrome de Usher[Patient organisation]_Usher Syndrome Coalition[Patient organisation]_Pr Birgit LORENZ[Expert]_Dr Markus PREISING[Expert]_Dr Gérard DUPEYRON[Expert]_Jesper DAMMEYER[Expert]
Last update: 25/08/2016
Last update: 25/08/2016
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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.