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ORPHA:65283  Timothy 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
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
Focusing attention
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Severe
Receiving messages in sign language
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Severe
Speaking
Permanent limitation
Severe
Producing messages in sign language
Permanent limitation
Severe
Producing nonverbal messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Complete
Using communication devices
Permanent limitation
Severe
Walking long distances
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Complete
Driving
Permanent limitation
Complete
Interacting with other people
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Severe
Maintaining family relationships
Permanent limitation
Severe
Dealing with strangers
Permanent limitation
Complete
Engaging in and maintaining intimate relationships
Permanent limitation
Complete
Engaging in sexual relationships
Permanent limitation
Complete
Shopping
Permanent limitation
Complete
Cooking/preparing meals
Permanent limitation
Complete
Doing housework
Permanent limitation
Complete
Looking after/helping others
Permanent limitation
Severe
Attending preschool
Permanent limitation
Complete
Attending mainstream school
Permanent limitation
Complete
Attending school in an adapted mainstream/special environment
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Complete
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Complete
Accessing higher education
Permanent limitation
Complete
Engaging in paid work in a standard environment
Permanent limitation
Complete
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Complete
Undertaking a simple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Severe
Socializing
Permanent limitation
Severe
Practicing sports
Permanent limitation
Complete
Participating in the arts and cultural activities
Permanent limitation
Severe
Frequent
Temporality
Severity
Standing
Permanent limitation
Moderate
Sitting
Permanent limitation
Moderate
Bending
Permanent limitation
Low
Washing oneself
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Playing with others
Permanent limitation
Severe
Travelling
Permanent limitation
Severe
Occasional
Temporality
Severity
Transferring oneself
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
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
Source: [Expert]
Last update: 01/07/2019

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