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ORPHA:245 Nager 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.

Environmental factors may however require particular attention for an optimal management of this disease. This information is restricted to the consequences of the disease and its management on functioning and daily life. Clinical aspects (including fatigue, pain, impact of the disease on the patient’s psychological state) are described through other documents (i.e. Disability factsheets).

Loss of an ability
Very frequent

Temporality
Severity
Accessing higher education
Permanent limitation
Severe
Acquiring language
Acquisition delay
Severe
Attending mainstream school
Permanent limitation
Severe
Attending preschool
Permanent limitation
Severe
Drinking
Transient limitation
Unspecified
Eating
Transient limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Severe
Hearing/listening
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Severe
Interacting with other people
Acquisition delay
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Learning to read
Acquisition delay
Unspecified
Learning to write
Acquisition delay
Unspecified
Making/keeping friends
Permanent limitation
Severe
Making/keeping friends
Acquisition delay
Unspecified
Participating in a conversation
Permanent limitation
Moderate
Participating in a conversation
Acquisition delay
Severe
Participating in the arts and cultural activities
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Reading
Acquisition delay
Unspecified
Receiving spoken messages
Permanent limitation
Severe
Receiving written messages
Acquisition delay
Unspecified
Seeking employment
Permanent limitation
Severe
Speaking
Acquisition delay
Severe
Taking part in community life
Acquisition delay
Unspecified
Taking part in community life
Permanent limitation
Severe
Travelling
Permanent limitation
Severe
Using communication devices
Acquisition delay
Severe
Using communication devices
Permanent limitation
Moderate
Writing
Acquisition delay
Unspecified
Writing messages
Acquisition delay
Unspecified
Frequent

Temporality
Severity
Dressing/undressing
Permanent limitation
Unspecified
Handling objects (fine hand use)
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Moderate
Motor skills
Acquisition delay
Unspecified
Reaching and catching objects
Permanent limitation
Moderate
Speaking
Permanent limitation
Moderate
Occasional

Temporality
Severity
Handling objects (fine hand use)
Acquisition delay
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Moving around
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Producing messages in sign language
Acquisition delay
Low
Thinking and reasoning
Permanent limitation
Unspecified
Walking
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.

Sound intensity
Sound quality
Source: Pr David GENEVIEVE[Expert]_Pr François BERNIER[Expert]_Association Coline[Patient organisation]
Last update: 18/02/2013

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