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ORPHA:861  Treacher-Collins 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
Hearing/listening
Permanent limitation
Moderate
Hearing/listening
Acquisition delay
Severe
Acquiring language
Acquisition delay
Moderate
Learning to read
Permanent limitation
Low
Learning to read
Acquisition delay
Low
Learning to write
Permanent limitation
Low
Reading
Acquisition delay
Low
Writing
Acquisition delay
Low
Receiving spoken messages
Permanent limitation
Moderate
Receiving spoken messages
Acquisition delay
Severe
Receiving written messages
Acquisition delay
Low
Speaking
Permanent limitation
Low
Speaking
Acquisition delay
Severe
Writing messages
Acquisition delay
Low
Participating in a conversation
Permanent limitation
Severe
Participating in a conversation
Acquisition delay
Severe
Using communication devices
Permanent limitation
Severe
Using communication devices
Acquisition delay
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Severe
Eating
Acquisition delay
Severe
Drinking
Acquisition delay
Unspecified
Staying asleep
Permanent limitation
Moderate
Getting good quality sleep
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Unspecified
Interacting with other people
Acquisition delay
Severe
Making/keeping friends
Permanent limitation
Unspecified
Making/keeping friends
Acquisition delay
Severe
Dealing with strangers
Permanent limitation
Unspecified
Dealing with strangers
Acquisition delay
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Unspecified
Engaging in and maintaining intimate relationships
Acquisition delay
Unspecified
Attending preschool
Permanent limitation
Severe
Attending preschool
Acquisition delay
Moderate
Attending mainstream school
Permanent limitation
Severe
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
Seeking employment
Permanent limitation
Severe
Taking part in community life
Acquisition delay
Severe
Playing with others
Permanent limitation
Severe
Playing with others
Acquisition delay
Unspecified
Socializing
Acquisition delay
Moderate
Participating in the arts and cultural activities
Acquisition delay
Severe
Travelling
Acquisition delay
Severe
Frequent
Temporality
Severity
Acquiring language
Permanent limitation
Low
Receiving nonverbal messages
Permanent limitation
Unspecified
Producing nonverbal messages
Permanent limitation
Unspecified
Eating
Permanent limitation
Moderate
Handling emotions and mood
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Moderate
Accessing higher education
Acquisition delay
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Unspecified
Participating in the arts and cultural activities
Permanent limitation
Unspecified
Travelling
Permanent limitation
Unspecified
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Unspecified
Hearing/listening
Permanent limitation
Severe
Hearing/listening
Acquisition delay
Low
Receiving spoken messages
Permanent limitation
Severe
Receiving spoken messages
Acquisition delay
Low
Motor skills
Acquisition delay
Low
Staying awake
Permanent limitation
Unspecified
Performing professional tasks
Permanent limitation
Moderate
Socializing
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
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 intensity
Sound quality
Source: Pr Marie-Paule VAZQUEZ[Expert]_Pr David GENEVIEVE[Expert]_Pr Françoise DENOYELLE[Expert]_Association Coline[Patient organisation]
Last update: 02/06/2015

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