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ORPHA:894  Waardenburg 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
Frequent
Temporality
Severity
Hearing/listening
Permanent limitation
Moderate
Acquiring language
Permanent limitation
Moderate
Learning to read
Permanent limitation
Moderate
Learning to write
Permanent limitation
Moderate
Reading
Permanent limitation
Low
Writing
Permanent limitation
Low
Focusing attention
Permanent limitation
Low
Memorizing and retrieving
Permanent limitation
Low
Receiving spoken messages
Permanent limitation
Moderate
Speaking
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Using transportation
Permanent limitation
Moderate
Interacting with other people
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Moderate
Occasional
Temporality
Severity
Attending preschool
Permanent limitation
Low
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
Moderate
Performing professional tasks
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Low
Playing with others
Permanent limitation
Low
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
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
Sound intensity
Sound quality
Vibrations
Source: Dr Sandrine MARLIN[Expert]
Last update: 23/08/2016

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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.