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Search for a disease and its functional consequences

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ORPHA:813  Silver-Russell 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
Occasional
Temporality
Severity
Learning
Acquisition delay
Moderate
Acquiring language
Acquisition delay
Moderate
Learning to read
Acquisition delay
Moderate
Learning to write
Acquisition delay
Moderate
Learning to calculate
Acquisition delay
Moderate
Applying knowledge
Acquisition delay
Moderate
Reading
Acquisition delay
Moderate
Writing
Acquisition delay
Moderate
Calculating
Acquisition delay
Moderate
Focusing attention
Acquisition delay
Moderate
Making decisions/taking initiatives/finding solutions
Acquisition delay
Moderate
Communicating with others
Acquisition delay
Moderate
Producing messages
Acquisition delay
Moderate
Speaking
Acquisition delay
Moderate
Producing messages in sign language
Acquisition delay
Moderate
Writing messages
Acquisition delay
Moderate
Participating in a conversation
Acquisition delay
Moderate
Motor skills
Acquisition delay
Moderate
Using objects
Acquisition delay
Moderate
Reaching and catching objects
Acquisition delay
Moderate
Handling objects (fine hand use)
Acquisition delay
Moderate
Self-care
Acquisition delay
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Moderate
Engaging in and maintaining intimate relationships
Acquisition delay
Moderate
Education
Acquisition delay
Moderate
Attending preschool
Acquisition delay
Moderate
Attending mainstream school
Acquisition delay
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Low
Accessing higher education
Acquisition delay
Low
Work and economic life
Acquisition delay
Low
Engaging in paid work in a standard environment
Acquisition delay
Low
Seeking employment
Acquisition delay
Low
Taking part in community life
Acquisition delay
Low
Practicing sports
Acquisition delay
Moderate
Travelling
Acquisition delay
Severe
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
Source: Pr Irene NETCHINE[Expert]_AFIF SSR/PAG[Patient organisation]_Dr Emma WAKELING[Expert]
Last update: 02/10/2015

Additional information

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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.