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ORPHA:107  BOR 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
Frequent
Temporality
Severity
Hearing/listening
Permanent limitation
Unspecified
Receiving spoken messages
Permanent limitation
Unspecified
Participating in a conversation
Permanent limitation
Unspecified
Using communication devices
Permanent limitation
Unspecified
Occasional
Temporality
Severity
Acquiring language
Permanent limitation
Unspecified
Speaking
Permanent limitation
Unspecified
Eating
Acquisition delay
Unspecified
Drinking
Acquisition delay
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Unspecified
Using transportation
Permanent limitation
Unspecified
Driving
Permanent limitation
Unspecified
Interacting with other people
Permanent limitation
Unspecified
Dealing with strangers
Permanent limitation
Unspecified
Attending preschool
Permanent limitation
Unspecified
Attending mainstream school
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Accessing higher education
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Seeking employment
Permanent limitation
Unspecified
Taking part in community life
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Unspecified
Socializing
Permanent limitation
Unspecified
Practicing sports
Transient limitation
Severe
Travelling
Permanent limitation
Unspecified
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.

Food
Sound intensity
Sound quality
Vibrations
Source: Dr Laurence HEIDET[Expert]
Last update: 24/01/2017

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