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ORPHA:636  Neurofibromatosis 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
Accessing higher education
Permanent limitation
Low
Playing with others
Permanent limitation
Low
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Moderate
Acquiring language
Acquisition delay
Low
Learning to read
Acquisition delay
Low
Learning to write
Acquisition delay
Low
Learning to calculate
Acquisition delay
Low
Reading
Acquisition delay
Low
Writing
Acquisition delay
Low
Calculating
Acquisition delay
Low
Focusing attention
Acquisition delay
Low
Making decisions/taking initiatives/finding solutions
Acquisition delay
Low
Standing
Transient limitation
Moderate
Sitting
Transient limitation
Low
Lifting and carrying objects
Transient limitation
Low
Walking long distances
Transient limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Moderate
Regulating urination
Transient limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Moving around outside the home
Transient limitation
Low
Driving
Transient limitation
Low
Making/keeping friends
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Low
Engaging in and maintaining intimate relationships
Permanent limitation
Low
Engaging in sexual relationships
Permanent limitation
Low
Shopping
Transient limitation
Low
Attending mainstream school
Acquisition delay
Low
Seeking employment
Acquisition delay
Moderate
Taking part in community life
Permanent limitation
Low
Socializing
Permanent limitation
Low
Practicing sports
Transient limitation
Low
Source: Pr Pierre WOLKENSTEIN[Expert]_Dr Salah FERKAL[Expert]_20187887[PMID]
Last update: 13/11/2015

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