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ORPHA:23 Argininosuccinic aciduria

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
Moderate
Acquiring language
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Engaging in sexual relationships
Permanent limitation
Moderate
Focusing attention
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Learning to calculate
Permanent limitation
Moderate
Learning to read
Permanent limitation
Moderate
Learning to write
Permanent limitation
Moderate
Memorizing and retrieving
Permanent limitation
Moderate
Reading
Permanent limitation
Moderate
Thinking and reasoning
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Frequent

Temporality
Severity
Acquiring language
Transient limitation
Moderate
Attending preschool
Permanent limitation
Moderate
Bending
Acquisition delay
Low
Carrying out daily routines
Permanent limitation
Moderate
Controlling one's own eating behaviour
Acquisition delay
Moderate
Controlling one's own general behaviour
Acquisition delay
Moderate
Dealing with strangers
Permanent limitation
Low
Driving
Permanent limitation
Low
Focusing attention
Transient limitation
Moderate
Handling emotions and mood
Acquisition delay
Moderate
Handling money/managing one's own budget
Permanent limitation
Moderate
Handling objects (fine hand use)
Acquisition delay
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Moderate
Learning to calculate
Transient limitation
Moderate
Learning to read
Transient limitation
Moderate
Learning to write
Transient limitation
Moderate
Lifting and carrying objects
Acquisition delay
Low
Maintaining a standing position
Acquisition delay
Low
Maintaining head position
Acquisition delay
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Transient limitation
Moderate
Memorizing and retrieving
Transient limitation
Moderate
Moving around outside the home
Permanent limitation
Low
Participating in the arts and cultural activities
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Playing with others
Permanent limitation
Low
Reaching and catching objects
Acquisition delay
Low
Reading
Transient limitation
Moderate
Receiving messages in sign language
Acquisition delay
Moderate
Receiving spoken messages
Acquisition delay
Moderate
Receiving written messages
Acquisition delay
Moderate
Seeking employment
Permanent limitation
Moderate
Sitting
Acquisition delay
Low
Socializing
Permanent limitation
Moderate
Speaking
Acquisition delay
Moderate
Standing
Acquisition delay
Low
Taking part in community life
Permanent limitation
Moderate
Thinking and reasoning
Transient limitation
Moderate
Travelling
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Moderate
Using transportation
Permanent limitation
Low
Walking long distances
Permanent limitation
Low
Walking short distances
Permanent limitation
Low
Writing
Transient limitation
Moderate
Writing messages
Acquisition delay
Moderate
Occasional

Temporality
Severity
Accessing higher education
Acquisition delay
Low
Acquiring language
Acquisition delay
Low
Attending mainstream school
Acquisition delay
Low
Attending preschool
Permanent limitation
Low
Attending school in an adapted mainstream/special environment
Permanent limitation
Low
Attending school in an adapted mainstream/special environment
Acquisition delay
Low
Bending
Transient limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Low
Controlling one's own eating behaviour
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Low
Doing housework
Permanent limitation
Low
Dressing/undressing
Acquisition delay
Low
Drinking
Acquisition delay
Low
Eating
Acquisition delay
Low
Engaging in paid work in a standard environment
Acquisition delay
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Low
Engaging in paid work in a supported/sheltered environment
Acquisition delay
Low
Falling asleep
Permanent limitation
Low
Focusing attention
Acquisition delay
Low
Getting good quality sleep
Permanent limitation
Low
Handling emotions and mood
Permanent limitation
Moderate
Handling objects (fine hand use)
Transient limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Interacting with other people
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Acquisition delay
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Low
Learning to calculate
Acquisition delay
Low
Learning to read
Acquisition delay
Low
Learning to write
Acquisition delay
Low
Lifting and carrying objects
Transient limitation
Low
Looking after/helping others
Permanent limitation
Low
Maintaining a standing position
Transient limitation
Low
Maintaining family relationships
Permanent limitation
Low
Maintaining head position
Transient limitation
Low
Making decisions/taking initiatives/finding solutions
Transient limitation
Low
Making/keeping friends
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Low
Memorizing and retrieving
Acquisition delay
Low
Performing professional tasks
Permanent limitation
Low
Practicing sports
Permanent limitation
Low
Reaching and catching objects
Transient limitation
Low
Reading
Acquisition delay
Low
Receiving messages in sign language
Transient limitation
Low
Receiving messages in sign language
Permanent limitation
Moderate
Receiving spoken messages
Transient limitation
Low
Receiving spoken messages
Permanent limitation
Moderate
Receiving written messages
Transient limitation
Low
Receiving written messages
Permanent limitation
Moderate
Regulating defecation
Acquisition delay
Low
Regulating urination
Acquisition delay
Low
Seeking employment
Acquisition delay
Low
Shopping
Permanent limitation
Low
Sitting
Transient limitation
Low
Speaking
Transient limitation
Low
Speaking
Permanent limitation
Moderate
Standing
Transient limitation
Low
Staying asleep
Permanent limitation
Low
Staying awake
Permanent limitation
Low
Thinking and reasoning
Acquisition delay
Low
Undertaking a simple task
Permanent limitation
Low
Washing oneself
Acquisition delay
Low
Writing
Acquisition delay
Low
Writing messages
Transient limitation
Low
Writing messages
Permanent limitation
Moderate
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
Temperature
Humidity
Source: Dr Alban-Elouen BARUTEAU[Expert]
Last update: 01/07/2019

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