Orphanet: Disability
x

Search for a disease and its functional consequences

* (*) mandatory field

ORPHA:66629  Goldberg-Shprintzen megacolon 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
Learning
Permanent limitation
Moderate
Acquiring language
Permanent limitation
Moderate
Learning to read
Permanent limitation
Moderate
Learning to write
Permanent limitation
Moderate
Learning to calculate
Permanent limitation
Severe
Applying knowledge
Permanent limitation
Moderate
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Calculating
Permanent limitation
Severe
Focusing attention
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Receiving messages
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Moderate
Producing messages
Permanent limitation
Moderate
Speaking
Permanent limitation
Moderate
Writing messages
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Moderate
Using objects
Permanent limitation
Low
Reaching and catching objects
Permanent limitation
Low
Lifting and carrying objects
Permanent limitation
Low
Handling objects (fine hand use)
Permanent limitation
Low
Walking
Permanent limitation
Low
Walking long distances
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Low
Regulating defecation
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Moderate
Moving around using transportation
Permanent limitation
Moderate
Driving
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in sexual relationships
Permanent limitation
Moderate
Household
Permanent limitation
Moderate
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Moderate
Handling money/managing one's own budget
Permanent limitation
Severe
Life management
Permanent limitation
Moderate
Undertaking a simple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Social life
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Socializing
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Low
Frequent
Temporality
Severity
Hearing/listening
Permanent limitation
Low
Source: [Expert]
Last update: 01/07/2019

Additional information

Specialised Social Services

Warning

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.