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ORPHA:72 Angelman 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
Complete
Acquiring language
Permanent limitation
Severe
Attending mainstream school
Permanent limitation
Severe
Being aware of space
Permanent limitation
Severe
Being aware of time
Permanent limitation
Severe
Calculating
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Carrying out administrative procedures
Permanent limitation
Complete
Controlling one's own general behaviour
Permanent limitation
Severe
Dealing with strangers
Permanent limitation
Severe
Doing housework
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Moderate
Driving
Permanent limitation
Complete
Engaging in and maintaining intimate relationships
Permanent limitation
Complete
Engaging in paid work in a standard environment
Permanent limitation
Complete
Engaging in sexual relationships
Permanent limitation
Complete
Focusing attention
Permanent limitation
Severe
Handling emotions and mood
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Complete
Learning to calculate
Permanent limitation
Severe
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Maintaining family relationships
Permanent limitation
Moderate
Maintaining head position
Acquisition delay
Low
Memorizing and retrieving
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Playing with others
Permanent limitation
Severe
Reading
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Severe
Seeking employment
Permanent limitation
Complete
Shopping
Permanent limitation
Severe
Sitting
Permanent limitation
Low
Speaking
Permanent limitation
Severe
Standing
Permanent limitation
Low
Taking part in community life
Permanent limitation
Moderate
Thinking and reasoning
Permanent limitation
Severe
Travelling
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Walking long distances
Permanent limitation
Moderate
Writing
Permanent limitation
Severe
Writing messages
Permanent limitation
Severe
Frequent

Temporality
Severity
Attending preschool
Permanent limitation
Severe
Attending preschool
Permanent limitation
Moderate
Attending school in an adapted mainstream/special environment
Permanent limitation
Severe
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate
Bending
Permanent limitation
Low
Carrying out daily routines
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Complete
Controlling one's own eating behaviour
Transient limitation
Severe
Cooking/preparing meals
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Moderate
Drinking
Permanent limitation
Moderate
Eating
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Complete
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Falling asleep
Permanent limitation
Severe
Getting good quality sleep
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Moderate
Interacting with other people
Permanent limitation
Low
Interacting with other people
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Complete
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Severe
Lifting and carrying objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Complete
Maintaining a standing position
Acquisition delay
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Complete
Moving around within the home
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Practicing sports
Permanent limitation
Severe
Practicing sports
Permanent limitation
Moderate
Producing messages in sign language
Permanent limitation
Severe
Producing messages in sign language
Permanent limitation
Moderate
Producing nonverbal messages
Permanent limitation
Moderate
Producing nonverbal messages
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Moderate
Receiving messages in sign language
Permanent limitation
Moderate
Receiving messages in sign language
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Low
Receiving spoken messages
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Low
Regulating defecation
Permanent limitation
Moderate
Regulating urination
Permanent limitation
Moderate
Seeing/watching
Permanent limitation
Low
Socializing
Permanent limitation
Moderate
Socializing
Permanent limitation
Severe
Staying asleep
Permanent limitation
Severe
Transferring oneself
Permanent limitation
Low
Undertaking a simple task
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Severe
Using communication devices
Permanent limitation
Moderate
Using transportation
Permanent limitation
Severe
Using transportation
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Moderate
Washing oneself
Permanent limitation
Severe
Washing oneself
Permanent limitation
Moderate
Occasional

Temporality
Severity
Drinking
Permanent limitation
Severe
Eating
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Severe
Regulating urination
Permanent limitation
Severe
Staying awake
Permanent limitation
Unspecified
Not defined

Hearing/listening
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.

Light quality
Food
Temperature
Light intensity
Day/night cycles
Sound intensity
Source: Association Francophone du Syndrome d'Angelman[Patient organisation]_Angelman Syndrome Foundation[Patient organisation]_Pr Anne MONCLA[Expert]_19968524[PMID]
Last update: 25/10/2016

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