Search for a disease and its functional consequences
ORPHA:915 Aarskog-Scott 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
Focusing attention
Acquisition delay
Severe
Making decisions/taking initiatives/finding solutions
Acquisition delay
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Severe
Engaging in and maintaining intimate relationships
Acquisition delay
Moderate
Engaging in sexual relationships
Acquisition delay
Moderate
Cooking/preparing meals
Acquisition delay
Severe
Looking after/helping others
Acquisition delay
Severe
Attending preschool
Acquisition delay
Severe
Attending mainstream school
Acquisition delay
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Acquisition delay
Moderate
Accessing higher education
Acquisition delay
Severe
Engaging in paid work in a standard environment
Acquisition delay
Moderate
Seeking employment
Acquisition delay
Moderate
Performing professional tasks
Acquisition delay
Moderate
Handling money/managing one's own budget
Acquisition delay
Severe
Carrying out administrative procedures
Acquisition delay
Severe
Undertaking a complex/multiple task
Acquisition delay
Severe
Taking part in community life
Acquisition delay
Severe
Playing with others
Acquisition delay
Severe
Socializing
Acquisition delay
Severe
Participating in the arts and cultural activities
Acquisition delay
Severe
Frequent
Temporality
Severity
Acquiring language
Acquisition delay
Moderate
Learning to read
Acquisition delay
Moderate
Learning to write
Acquisition delay
Moderate
Learning to calculate
Acquisition delay
Moderate
Reading
Acquisition delay
Moderate
Writing
Acquisition delay
Moderate
Calculating
Acquisition delay
Moderate
Focusing attention
Permanent limitation
Moderate
Receiving spoken messages
Acquisition delay
Moderate
Receiving written messages
Acquisition delay
Moderate
Speaking
Acquisition delay
Moderate
Writing messages
Acquisition delay
Unspecified
Participating in a conversation
Acquisition delay
Moderate
Using communication devices
Acquisition delay
Moderate
Standing
Acquisition delay
Unspecified
Sitting
Acquisition delay
Unspecified
Maintaining a standing position
Acquisition delay
Unspecified
Maintaining head position
Acquisition delay
Unspecified
Handling objects (fine hand use)
Permanent limitation
Unspecified
Handling objects (fine hand use)
Acquisition delay
Unspecified
Washing oneself
Acquisition delay
Moderate
Regulating urination
Acquisition delay
Moderate
Eating
Acquisition delay
Moderate
Drinking
Acquisition delay
Moderate
Falling asleep
Permanent limitation
Severe
Handling emotions and mood
Acquisition delay
Moderate
Controlling one's own general behaviour
Acquisition delay
Severe
Interacting with other people
Acquisition delay
Moderate
Making/keeping friends
Acquisition delay
Moderate
Maintaining family relationships
Acquisition delay
Unspecified
Dealing with strangers
Acquisition delay
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Severe
Shopping
Acquisition delay
Unspecified
Doing housework
Acquisition delay
Unspecified
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Moderate
Acquiring language
Permanent limitation
Severe
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Severe
Reading
Permanent limitation
Severe
Writing
Permanent limitation
Severe
Calculating
Permanent limitation
Severe
Thinking and reasoning
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Unspecified
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Severe
Speaking
Permanent limitation
Severe
Producing nonverbal messages
Permanent limitation
Moderate
Writing messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Severe
Using communication devices
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Moderate
Getting good quality sleep
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Handling emotions and mood
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Low
Using transportation
Permanent limitation
Moderate
Driving
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Severe
Maintaining family relationships
Permanent limitation
Unspecified
Dealing with strangers
Permanent limitation
Severe
Shopping
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Unspecified
Doing housework
Permanent limitation
Unspecified
Looking after/helping others
Permanent limitation
Severe
Attending mainstream school
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
Moderate
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Unspecified
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Severe
Carrying out administrative procedures
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Unspecified
Taking part in community life
Permanent limitation
Severe
Playing with others
Permanent limitation
Unspecified
Socializing
Permanent limitation
Severe
Practicing sports
Permanent limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Severe
Travelling
Permanent limitation
Severe
Not defined
Reaching and catching objects
Lifting and carrying objects
Dressing/undressing
Attending school in an adapted mainstream/special environment
Source: Dr Alfredo ORRICO[Expert]_Pr Willem M.A. VERHOEVEN[Expert]_Pr Jos I.M. EGGER[Expert]
Last update: 30/01/2015
Last update: 30/01/2015
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