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ORPHA:217085  Mucopolysaccharidosis type 2, severe form

:: 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.

:: The functional consequences listed below are related to the most common situation of the patients receiving optimal standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support).
However, some patients may receive a particular management (neonatal screening, new treatment, management applying only in specific situations) enabling a better functioning, that is not described here.

 Loss of an ability
Very frequent
Temporality
Severity
Reading
Permanent limitation
Complete
Writing
Permanent limitation
Complete
Calculating
Permanent limitation
Complete
Receiving spoken messages
Permanent limitation
Complete
Receiving messages in sign language
Permanent limitation
Unspecified
Receiving nonverbal messages
Permanent limitation
Unspecified
Receiving written messages
Permanent limitation
Unspecified
Speaking
Permanent limitation
Complete
Producing messages in sign language
Permanent limitation
Unspecified
Producing nonverbal messages
Permanent limitation
Unspecified
Writing messages
Permanent limitation
Unspecified
Participating in a conversation
Permanent limitation
Complete
Using communication devices
Permanent limitation
Unspecified
Handling objects (fine hand use)
Permanent limitation
Complete
Washing oneself
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Regulating urination
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Severe
Drinking
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Moderate
Driving
Permanent limitation
Complete
Interacting with other people
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Severe
Attending preschool
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
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Severe
Accessing higher education
Permanent limitation
Complete
Undertaking a simple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Complete
Taking part in community life
Permanent limitation
Severe
Playing with others
Permanent limitation
Severe
Socializing
Permanent limitation
Severe
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Severe
Frequent
Temporality
Severity
Hearing/listening
Permanent limitation
Complete
Hearing/listening
Permanent limitation
Severe
Hearing/listening
Acquisition delay
Severe
Hearing/listening
Transient limitation
Severe
Hearing/listening
Transient limitation
Moderate
Acquiring language
Permanent limitation
Severe
Acquiring language
Acquisition delay
Severe
Acquiring language
Acquisition delay
Moderate
Learning to read
Permanent limitation
Complete
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Complete
Learning to write
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Complete
Learning to calculate
Permanent limitation
Severe
Focusing attention
Permanent limitation
Complete
Focusing attention
Permanent limitation
Severe
Walking short distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Severe
Walking long distances
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Eating
Permanent limitation
Moderate
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Low
Standing
Permanent limitation
Complete
Sitting
Permanent limitation
Complete
Bending
Permanent limitation
Complete
Transferring oneself
Permanent limitation
Complete
Maintaining a standing position
Permanent limitation
Complete
Maintaining head position
Permanent limitation
Complete
Reaching and catching objects
Permanent limitation
Complete
Lifting and carrying objects
Permanent limitation
Complete
Walking short distances
Permanent limitation
Complete
Eating
Permanent limitation
Complete
Moving around within the home
Permanent limitation
Complete
Moving around within the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Complete
Practicing sports
Permanent limitation
Severe
Travelling
Permanent limitation
Moderate
Travelling
Permanent limitation
Low
Not defined
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Handling stress, responsabilities, emergencies and ensuring one's safety
Controlling one's own general behaviour
Maintaining family relationships
Dealing with strangers
Engaging in and maintaining intimate relationships
Engaging in sexual relationships
Shopping
Cooking/preparing meals
Doing housework
Looking after/helping others
Engaging in paid work in a standard environment
Engaging in paid work in a supported/sheltered environment
Seeking employment
Performing professional tasks
Handling money/managing one's own budget
Carrying out daily routines
Source: [Expert]
Last update: 01/07/2019

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