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ORPHA:201  Cowden 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
Occasional
Temporality
Severity
Acquiring language
Permanent limitation
Unspecified
Acquiring language
Acquisition delay
Unspecified
Learning to read
Permanent limitation
Unspecified
Learning to read
Acquisition delay
Unspecified
Learning to write
Permanent limitation
Unspecified
Learning to write
Acquisition delay
Unspecified
Learning to calculate
Permanent limitation
Unspecified
Learning to calculate
Acquisition delay
Unspecified
Reading
Permanent limitation
Unspecified
Reading
Acquisition delay
Unspecified
Writing
Permanent limitation
Unspecified
Writing
Acquisition delay
Unspecified
Calculating
Permanent limitation
Unspecified
Calculating
Acquisition delay
Unspecified
Focusing attention
Permanent limitation
Unspecified
Focusing attention
Acquisition delay
Unspecified
Memorizing and retrieving
Permanent limitation
Unspecified
Memorizing and retrieving
Acquisition delay
Unspecified
Thinking and reasoning
Permanent limitation
Severe
Thinking and reasoning
Permanent limitation
Low
Thinking and reasoning
Acquisition delay
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Receiving spoken messages
Permanent limitation
Unspecified
Receiving spoken messages
Acquisition delay
Moderate
Receiving nonverbal messages
Permanent limitation
Unspecified
Receiving nonverbal messages
Acquisition delay
Moderate
Receiving written messages
Permanent limitation
Unspecified
Receiving written messages
Acquisition delay
Moderate
Speaking
Permanent limitation
Unspecified
Speaking
Acquisition delay
Moderate
Producing nonverbal messages
Permanent limitation
Unspecified
Producing nonverbal messages
Acquisition delay
Moderate
Writing messages
Permanent limitation
Unspecified
Writing messages
Acquisition delay
Moderate
Participating in a conversation
Permanent limitation
Unspecified
Participating in a conversation
Acquisition delay
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Low
Handling objects (fine hand use)
Acquisition delay
Moderate
Walking long distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Low
Walking long distances
Acquisition delay
Moderate
Walking long distances
Acquisition delay
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Low
Washing oneself
Permanent limitation
Complete
Washing oneself
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Complete
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Regulating urination
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Complete
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Low
Handling emotions and mood
Permanent limitation
Severe
Handling emotions and mood
Permanent limitation
Low
Handling emotions and mood
Acquisition delay
Severe
Handling emotions and mood
Acquisition delay
Low
Controlling one's own general behaviour
Permanent limitation
Unspecified
Controlling one's own general behaviour
Acquisition delay
Severe
Controlling one's own general behaviour
Acquisition delay
Low
Controlling one's own eating behaviour
Permanent limitation
Severe
Controlling one's own eating behaviour
Permanent limitation
Low
Controlling one's own eating behaviour
Acquisition delay
Severe
Controlling one's own eating behaviour
Acquisition delay
Low
Driving
Permanent limitation
Moderate
Driving
Permanent limitation
Low
Driving
Acquisition delay
Moderate
Driving
Acquisition delay
Low
Interacting with other people
Permanent limitation
Low
Interacting with other people
Acquisition delay
Low
Engaging in and maintaining intimate relationships
Permanent limitation
Low
Engaging in and maintaining intimate relationships
Acquisition delay
Low
Shopping
Permanent limitation
Severe
Shopping
Acquisition delay
Severe
Shopping
Acquisition delay
Moderate
Cooking/preparing meals
Permanent limitation
Severe
Cooking/preparing meals
Acquisition delay
Severe
Cooking/preparing meals
Acquisition delay
Moderate
Doing housework
Permanent limitation
Severe
Doing housework
Acquisition delay
Severe
Doing housework
Acquisition delay
Moderate
Looking after/helping others
Permanent limitation
Severe
Looking after/helping others
Acquisition delay
Severe
Looking after/helping others
Acquisition delay
Moderate
Attending mainstream school
Permanent limitation
Unspecified
Attending mainstream school
Acquisition delay
Severe
Attending mainstream school
Acquisition delay
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Low
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Acquisition delay
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Acquisition delay
Low
Accessing higher education
Permanent limitation
Unspecified
Accessing higher education
Acquisition delay
Severe
Accessing higher education
Acquisition delay
Low
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Acquisition delay
Severe
Engaging in paid work in a standard environment
Acquisition delay
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Unspecified
Engaging in paid work in a supported/sheltered environment
Acquisition delay
Severe
Engaging in paid work in a supported/sheltered environment
Acquisition delay
Low
Seeking employment
Permanent limitation
Unspecified
Seeking employment
Acquisition delay
Severe
Seeking employment
Acquisition delay
Low
Performing professional tasks
Permanent limitation
Unspecified
Performing professional tasks
Acquisition delay
Moderate
Performing professional tasks
Acquisition delay
Low
Handling money/managing one's own budget
Permanent limitation
Unspecified
Handling money/managing one's own budget
Acquisition delay
Severe
Handling money/managing one's own budget
Acquisition delay
Low
Undertaking a simple task
Permanent limitation
Unspecified
Undertaking a simple task
Acquisition delay
Severe
Undertaking a simple task
Acquisition delay
Low
Undertaking a complex/multiple task
Permanent limitation
Unspecified
Undertaking a complex/multiple task
Acquisition delay
Severe
Undertaking a complex/multiple task
Acquisition delay
Low
Carrying out daily routines
Permanent limitation
Unspecified
Carrying out daily routines
Acquisition delay
Severe
Carrying out daily routines
Acquisition delay
Low
Socializing
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Complete
Practicing sports
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Source: Expert
Last update: 03/12/2018

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