Orphanet: Disability
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ORPHA:528  Berardinelli-Seip congenital lipodystrophy

:: 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
Controlling one's own eating behaviour
Permanent limitation
Moderate
Occasional
Temporality
Severity
Acquiring language
Acquisition delay
Moderate
Acquiring language
Acquisition delay
Low
Learning to read
Permanent limitation
Moderate
Learning to read
Permanent limitation
Low
Learning to read
Acquisition delay
Moderate
Learning to read
Acquisition delay
Low
Learning to write
Permanent limitation
Moderate
Learning to write
Permanent limitation
Low
Learning to write
Acquisition delay
Moderate
Learning to write
Acquisition delay
Low
Learning to calculate
Permanent limitation
Moderate
Learning to calculate
Permanent limitation
Low
Learning to calculate
Acquisition delay
Moderate
Learning to calculate
Acquisition delay
Low
Reading
Permanent limitation
Moderate
Reading
Permanent limitation
Low
Reading
Acquisition delay
Moderate
Reading
Acquisition delay
Low
Writing
Permanent limitation
Moderate
Writing
Permanent limitation
Low
Writing
Acquisition delay
Moderate
Writing
Acquisition delay
Low
Calculating
Permanent limitation
Moderate
Calculating
Permanent limitation
Low
Calculating
Acquisition delay
Moderate
Calculating
Acquisition delay
Low
Memorizing and retrieving
Permanent limitation
Moderate
Memorizing and retrieving
Permanent limitation
Low
Memorizing and retrieving
Acquisition delay
Moderate
Memorizing and retrieving
Acquisition delay
Low
Thinking and reasoning
Permanent limitation
Moderate
Thinking and reasoning
Permanent limitation
Low
Thinking and reasoning
Acquisition delay
Moderate
Thinking and reasoning
Acquisition delay
Low
Walking long distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
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
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Low
Falling asleep
Transient limitation
Severe
Falling asleep
Transient limitation
Moderate
Falling asleep
Transient limitation
Low
Staying asleep
Transient limitation
Severe
Staying asleep
Transient limitation
Moderate
Staying asleep
Transient limitation
Low
Getting good quality sleep
Transient limitation
Severe
Getting good quality sleep
Transient limitation
Moderate
Getting good quality sleep
Transient limitation
Low
Staying awake
Transient limitation
Severe
Staying awake
Transient limitation
Moderate
Staying awake
Transient limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Low
Handling emotions and mood
Transient limitation
Moderate
Handling emotions and mood
Transient limitation
Low
Controlling one's own general behaviour
Transient limitation
Moderate
Controlling one's own general behaviour
Transient limitation
Low
Interacting with other people
Acquisition delay
Moderate
Interacting with other people
Acquisition delay
Low
Interacting with other people
Transient limitation
Moderate
Interacting with other people
Transient limitation
Low
Making/keeping friends
Acquisition delay
Moderate
Making/keeping friends
Acquisition delay
Low
Making/keeping friends
Transient limitation
Moderate
Making/keeping friends
Transient limitation
Low
Dealing with strangers
Acquisition delay
Moderate
Dealing with strangers
Acquisition delay
Low
Dealing with strangers
Transient limitation
Moderate
Dealing with strangers
Transient limitation
Low
Shopping
Transient limitation
Low
Cooking/preparing meals
Transient limitation
Low
Doing housework
Transient limitation
Low
Looking after/helping others
Transient limitation
Low
Attending mainstream school
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Accessing higher education
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Low
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Low
Seeking employment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Low
Performing professional tasks
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Low
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
Moderate
Carrying out administrative procedures
Permanent limitation
Low
Undertaking a complex/multiple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Low
Undertaking a complex/multiple task
Transient limitation
Moderate
Undertaking a complex/multiple task
Transient limitation
Low
Carrying out daily routines
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Low
Carrying out daily routines
Transient limitation
Moderate
Carrying out daily routines
Transient limitation
Low
Taking part in community life
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Low
Taking part in community life
Transient limitation
Moderate
Taking part in community life
Transient limitation
Low
Playing with others
Permanent limitation
Moderate
Playing with others
Permanent limitation
Low
Playing with others
Transient limitation
Moderate
Playing with others
Transient limitation
Low
Socializing
Permanent limitation
Moderate
Socializing
Permanent limitation
Low
Socializing
Transient limitation
Moderate
Socializing
Transient limitation
Low
Practicing sports
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Low
Travelling
Permanent limitation
Moderate
Travelling
Permanent limitation
Low
Travelling
Transient limitation
Moderate
Travelling
Transient 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

Additional information

Specialised Social Services

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