Orphanet: Disability
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ORPHA:567  22q11.2 deletion 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
Frequent
Temporality
Severity
Acquiring language
Permanent limitation
Unspecified
Acquiring language
Acquisition delay
Moderate
Learning to read
Acquisition delay
Moderate
Learning to write
Acquisition delay
Moderate
Learning to calculate
Acquisition delay
Moderate
Focusing attention
Permanent limitation
Unspecified
Memorizing and retrieving
Permanent limitation
Unspecified
Thinking and reasoning
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Being aware of time
Permanent limitation
Low
Being aware of space
Permanent limitation
Low
Receiving spoken messages
Permanent limitation
Unspecified
Receiving spoken messages
Acquisition delay
Unspecified
Receiving nonverbal messages
Acquisition delay
Unspecified
Receiving written messages
Permanent limitation
Unspecified
Receiving written messages
Acquisition delay
Unspecified
Speaking
Permanent limitation
Moderate
Speaking
Acquisition delay
Unspecified
Producing nonverbal messages
Permanent limitation
Moderate
Producing nonverbal messages
Acquisition delay
Unspecified
Writing messages
Permanent limitation
Unspecified
Writing messages
Acquisition delay
Unspecified
Participating in a conversation
Permanent limitation
Unspecified
Handling objects (fine hand use)
Permanent limitation
Low
Walking long distances
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Washing oneself
Permanent limitation
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Moderate
Handling emotions and mood
Permanent limitation
Unspecified
Controlling one's own general behaviour
Permanent limitation
Unspecified
Controlling one's own general behaviour
Transient limitation
Moderate
Moving around outside the home
Permanent limitation
Unspecified
Driving
Permanent limitation
Unspecified
Interacting with other people
Permanent limitation
Unspecified
Making/keeping friends
Permanent limitation
Unspecified
Maintaining family relationships
Permanent limitation
Unspecified
Dealing with strangers
Permanent limitation
Unspecified
Engaging in and maintaining intimate relationships
Permanent limitation
Unspecified
Engaging in sexual relationships
Permanent limitation
Unspecified
Shopping
Permanent limitation
Unspecified
Cooking/preparing meals
Permanent limitation
Unspecified
Doing housework
Permanent limitation
Unspecified
Looking after/helping others
Permanent limitation
Unspecified
Attending mainstream school
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Accessing higher education
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Seeking employment
Permanent limitation
Unspecified
Performing professional tasks
Permanent limitation
Unspecified
Handling money/managing one's own budget
Permanent limitation
Unspecified
Carrying out administrative procedures
Permanent limitation
Unspecified
Undertaking a complex/multiple task
Permanent limitation
Unspecified
Carrying out daily routines
Permanent limitation
Unspecified
Taking part in community life
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Unspecified
Socializing
Permanent limitation
Unspecified
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Unspecified
Hearing/listening
Permanent limitation
Unspecified
Reading
Permanent limitation
Unspecified
Writing
Permanent limitation
Unspecified
Calculating
Permanent limitation
Unspecified
Being aware of time
Permanent limitation
Severe
Being aware of space
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Unspecified
Participating in a conversation
Acquisition delay
Unspecified
Standing
Acquisition delay
Unspecified
Sitting
Acquisition delay
Unspecified
Maintaining a standing position
Acquisition delay
Unspecified
Maintaining head position
Acquisition delay
Unspecified
Lifting and carrying objects
Permanent limitation
Unspecified
Walking long distances
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Regulating urination
Permanent limitation
Unspecified
Regulating defecation
Permanent limitation
Unspecified
Dressing/undressing
Permanent limitation
Unspecified
Eating
Permanent limitation
Unspecified
Drinking
Permanent limitation
Unspecified
Getting good quality sleep
Permanent limitation
Unspecified
Controlling one's own eating behaviour
Permanent limitation
Unspecified
Using transportation
Permanent limitation
Unspecified
Attending preschool
Permanent limitation
Moderate
Attending school in an adapted mainstream/special environment
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Unspecified
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Participating in the arts and cultural activities
Permanent limitation
Unspecified
Travelling
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.

Food
Day/night cycles
Sound intensity
Source: Pr Nicole PHILIP-SARLES[Expert]_Ms Brigitte JARRET[Expert]_Dr Donna M. MCDONALD-MCGINN[Expert]_Dr Anne BASSETT[Expert]_Velo-Cardio-Facial Syndrome Educational Foundation[Patient organisation]
Last update: 27/03/2017

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