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ORPHA:811  Shwachman-Diamond 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
Hearing/listening
Transient limitation
Low
Acquiring language
Acquisition delay
Moderate
Learning to read
Acquisition delay
Low
Learning to calculate
Permanent limitation
Moderate
Learning to calculate
Acquisition delay
Moderate
Calculating
Permanent limitation
Moderate
Calculating
Acquisition delay
Moderate
Focusing attention
Permanent limitation
Moderate
Focusing attention
Acquisition delay
Moderate
Thinking and reasoning
Permanent limitation
Moderate
Thinking and reasoning
Acquisition delay
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Low
Making decisions/taking initiatives/finding solutions
Acquisition delay
Low
Being aware of space
Permanent limitation
Low
Being aware of space
Acquisition delay
Low
Receiving nonverbal messages
Permanent limitation
Low
Receiving nonverbal messages
Acquisition delay
Low
Speaking
Acquisition delay
Low
Producing nonverbal messages
Permanent limitation
Low
Producing nonverbal messages
Acquisition delay
Low
Interacting with other people
Permanent limitation
Moderate
Interacting with other people
Acquisition delay
Moderate
Making/keeping friends
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Moderate
Attending mainstream school
Acquisition delay
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Playing with others
Acquisition delay
Moderate
Occasional
Temporality
Severity
Acquiring language
Permanent limitation
Low
Learning to read
Permanent limitation
Low
Learning to write
Permanent limitation
Low
Learning to write
Acquisition delay
Low
Reading
Permanent limitation
Low
Reading
Acquisition delay
Low
Writing
Permanent limitation
Low
Writing
Acquisition delay
Low
Focusing attention
Permanent limitation
Severe
Focusing attention
Acquisition delay
Severe
Focusing attention
Acquisition delay
Low
Thinking and reasoning
Permanent limitation
Severe
Thinking and reasoning
Acquisition delay
Severe
Thinking and reasoning
Acquisition delay
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Acquisition delay
Severe
Making decisions/taking initiatives/finding solutions
Acquisition delay
Moderate
Being aware of space
Permanent limitation
Severe
Being aware of space
Permanent limitation
Moderate
Being aware of space
Acquisition delay
Severe
Being aware of space
Acquisition delay
Moderate
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving nonverbal messages
Acquisition delay
Moderate
Receiving written messages
Permanent limitation
Low
Receiving written messages
Acquisition delay
Low
Writing messages
Permanent limitation
Low
Writing messages
Acquisition delay
Low
Participating in a conversation
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Low
Participating in a conversation
Acquisition delay
Moderate
Participating in a conversation
Acquisition delay
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Low
Temperament and behaviour
Permanent limitation
Low
Temperament and behaviour
Acquisition delay
Moderate
Temperament and behaviour
Acquisition delay
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Low
Handling emotions and mood
Permanent limitation
Low
Handling emotions and mood
Acquisition delay
Low
Controlling one's own general behaviour
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Low
Controlling one's own general behaviour
Acquisition delay
Moderate
Controlling one's own general behaviour
Acquisition delay
Low
Interacting with other people
Permanent limitation
Low
Interacting with other people
Acquisition delay
Low
Making/keeping friends
Permanent limitation
Moderate
Making/keeping friends
Acquisition delay
Moderate
Making/keeping friends
Acquisition delay
Low
Dealing with strangers
Permanent limitation
Low
Dealing with strangers
Acquisition delay
Moderate
Dealing with strangers
Acquisition delay
Low
Daily activities
Permanent limitation
Severe
Daily activities
Permanent limitation
Moderate
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 standard environment
Permanent limitation
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Low
Seeking employment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Low
Performing professional tasks
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Low
Handling money/managing one's own budget
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Moderate
Handling money/managing one's own budget
Permanent limitation
Low
Carrying out administrative procedures
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Low
Carrying out daily routines
Permanent limitation
Low
Taking part in community life
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Low
Taking part in community life
Acquisition delay
Moderate
Taking part in community life
Acquisition delay
Low
Playing with others
Permanent limitation
Low
Playing with others
Acquisition delay
Low
Socializing
Permanent limitation
Moderate
Socializing
Permanent limitation
Low
Socializing
Acquisition delay
Moderate
Socializing
Acquisition delay
Low
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
Sound
Source: Expert
Last update: 01/07/2019

Additional information

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