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ORPHA:819  Smith-Magenis 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
Very frequent
Temporality
Severity
Learning to calculate
Permanent limitation
Severe
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Severe
Calculating
Permanent limitation
Severe
Focusing attention
Permanent limitation
Moderate
Receiving spoken messages
Permanent limitation
Low
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Severe
Speaking
Permanent limitation
Low
Producing nonverbal messages
Permanent limitation
Moderate
Writing messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Low
Washing oneself
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Staying asleep
Permanent limitation
Severe
Getting good quality sleep
Permanent limitation
Severe
Staying awake
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Handling emotions and mood
Permanent limitation
Severe
Driving
Permanent limitation
Severe
Making/keeping friends
Acquisition delay
Low
Dealing with strangers
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in sexual relationships
Permanent limitation
Severe
Shopping
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Severe
Doing housework
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Accessing higher education
Permanent limitation
Complete
Engaging in paid work in a standard environment
Permanent limitation
Complete
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Complete
Carrying out administrative procedures
Permanent limitation
Complete
Undertaking a complex/multiple task
Permanent limitation
Severe
Socializing
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Frequent
Temporality
Severity
Seeing/watching
Permanent limitation
Moderate
Acquiring language
Permanent limitation
Moderate
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Thinking and reasoning
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Being aware of time
Permanent limitation
Moderate
Being aware of space
Permanent limitation
Severe
Standing
Acquisition delay
Low
Sitting
Acquisition delay
Low
Maintaining a standing position
Acquisition delay
Low
Maintaining head position
Acquisition delay
Low
Handling objects (fine hand use)
Permanent limitation
Moderate
Handling objects (fine hand use)
Acquisition delay
Moderate
Walking short distances
Acquisition delay
Moderate
Walking long distances
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Moderate
Regulating urination
Acquisition delay
Moderate
Regulating defecation
Acquisition delay
Low
Dressing/undressing
Acquisition delay
Low
Controlling one's own general behaviour
Permanent limitation
Moderate
Moving around outside the home
Acquisition delay
Moderate
Using transportation
Acquisition delay
Moderate
Attending preschool
Acquisition delay
Moderate
Attending mainstream school
Acquisition delay
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Undertaking a simple task
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Playing with others
Acquisition delay
Low
Practicing sports
Acquisition delay
Low
Occasional
Temporality
Severity
Hearing/listening
Permanent limitation
Low
Memorizing and retrieving
Permanent limitation
Low
Using communication devices
Permanent limitation
Moderate
Eating
Acquisition delay
Low
Controlling one's own eating behaviour
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Moderate
Interacting with other people
Permanent limitation
Low
Maintaining family relationships
Permanent limitation
Low
Dealing with strangers
Acquisition delay
Low
Practicing sports
Permanent limitation
Moderate
Not defined
Receiving messages in sign language
Producing messages in sign language
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
Light intensity
Day/night cycles
Seasonal cycles
Sound intensity
Source: Dr Hélène de LEERSNYDER[Expert]_Dr Sarah ELSEA[Expert]
Last update: 09/03/2016

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