Orphanet: Disability
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ORPHA:1947  Progressive epilepsy-intellectual disability syndrome, Finnish type

:: 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
Reading
Permanent limitation
Severe
Writing
Permanent limitation
Severe
Calculating
Permanent limitation
Severe
Focusing attention
Permanent limitation
Severe
Thinking and reasoning
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Severe
Receiving messages in sign language
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Severe
Speaking
Permanent limitation
Severe
Producing messages in sign language
Permanent limitation
Severe
Producing nonverbal messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Severe
Using communication devices
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Controlling one's own general behaviour
Permanent limitation
Severe
Driving
Permanent limitation
Severe
Attending mainstream school
Permanent limitation
Severe
Attending school in an adapted mainstream/special environment
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Complete
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Severe
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Complete
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Complete
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 simple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Unspecified
Socializing
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Participating in the arts and cultural activities
Permanent limitation
Unspecified
Travelling
Permanent limitation
Unspecified
Frequent
Temporality
Severity
Standing
Permanent limitation
Unspecified
Sitting
Permanent limitation
Unspecified
Bending
Permanent limitation
Unspecified
Transferring oneself
Permanent limitation
Unspecified
Maintaining a standing position
Permanent limitation
Unspecified
Maintaining head position
Permanent limitation
Unspecified
Reaching and catching objects
Permanent limitation
Unspecified
Lifting and carrying objects
Permanent limitation
Unspecified
Handling objects (fine hand use)
Permanent limitation
Unspecified
Walking short distances
Permanent limitation
Unspecified
Walking long distances
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Unspecified
Washing oneself
Permanent limitation
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Unspecified
Regulating urination
Permanent limitation
Unspecified
Regulating defecation
Permanent limitation
Unspecified
Dressing/undressing
Permanent limitation
Unspecified
Eating
Permanent limitation
Unspecified
Drinking
Permanent limitation
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Unspecified
Staying asleep
Permanent limitation
Severe
Staying asleep
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Unspecified
Moving around outside the home
Permanent limitation
Unspecified
Using transportation
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
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Moderate
Not defined
Memorizing and retrieving
Being aware of time
Being aware of space
Falling asleep
Getting good quality sleep
Staying awake
Handling emotions and mood
Source: Pr Alfried KOHLSCHÜTTER[Expert]
Last update: 24/03/2015

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