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ORPHA:216812  Osteogenesis imperfecta type 3

:: 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
Standing
Transient limitation
Severe
Bending
Acquisition delay
Severe
Bending
Transient limitation
Severe
Maintaining head position
Transient limitation
Severe
Reaching and catching objects
Transient limitation
Severe
Lifting and carrying objects
Transient limitation
Severe
Handling objects (fine hand use)
Transient limitation
Severe
Walking short distances
Transient limitation
Severe
Walking long distances
Transient limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Severe
Washing oneself
Transient limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Severe
Regulating urination
Transient limitation
Severe
Regulating defecation
Transient limitation
Severe
Dressing/undressing
Transient limitation
Severe
Eating
Transient limitation
Severe
Drinking
Transient limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Severe
Moving around within the home
Transient limitation
Severe
Moving around outside the home
Transient limitation
Severe
Using transportation
Transient limitation
Severe
Driving
Transient limitation
Severe
Attending preschool
Transient limitation
Severe
Attending mainstream school
Transient limitation
Severe
Attending school in an adapted mainstream/special environment
Transient limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Transient limitation
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Transient limitation
Severe
Accessing higher education
Transient limitation
Severe
Practicing sports
Transient limitation
Complete
Frequent
Temporality
Severity
Standing
Permanent limitation
Severe
Standing
Acquisition delay
Severe
Bending
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Severe
Maintaining a standing position
Acquisition delay
Severe
Maintaining a standing position
Transient limitation
Severe
Maintaining head position
Permanent limitation
Moderate
Maintaining head position
Acquisition delay
Moderate
Reaching and catching objects
Permanent limitation
Severe
Reaching and catching objects
Acquisition delay
Severe
Lifting and carrying objects
Permanent limitation
Moderate
Lifting and carrying objects
Acquisition delay
Moderate
Handling objects (fine hand use)
Permanent limitation
Severe
Handling objects (fine hand use)
Acquisition delay
Severe
Walking short distances
Permanent limitation
Severe
Walking short distances
Acquisition delay
Severe
Walking long distances
Permanent limitation
Severe
Walking long distances
Acquisition delay
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Severe
Washing oneself
Permanent limitation
Severe
Washing oneself
Acquisition delay
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Severe
Regulating urination
Permanent limitation
Severe
Regulating urination
Acquisition delay
Severe
Regulating defecation
Permanent limitation
Severe
Regulating defecation
Acquisition delay
Severe
Dressing/undressing
Permanent limitation
Severe
Dressing/undressing
Acquisition delay
Severe
Eating
Permanent limitation
Severe
Eating
Acquisition delay
Severe
Drinking
Permanent limitation
Severe
Drinking
Acquisition delay
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Severe
Getting good quality sleep
Permanent limitation
Severe
Staying awake
Permanent limitation
Severe
Controlling one's own eating behaviour
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Severe
Moving around within the home
Acquisition delay
Severe
Moving around outside the home
Permanent limitation
Severe
Moving around outside the home
Acquisition delay
Severe
Using transportation
Permanent limitation
Severe
Using transportation
Acquisition delay
Severe
Driving
Permanent limitation
Severe
Driving
Acquisition delay
Severe
Making/keeping friends
Permanent limitation
Moderate
Making/keeping friends
Acquisition delay
Moderate
Making/keeping friends
Transient limitation
Moderate
Maintaining family relationships
Permanent limitation
Moderate
Maintaining family relationships
Acquisition delay
Moderate
Maintaining family relationships
Transient limitation
Moderate
Attending preschool
Permanent limitation
Severe
Attending preschool
Acquisition delay
Severe
Attending mainstream school
Permanent limitation
Severe
Attending mainstream school
Acquisition delay
Severe
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate
Attending school in an adapted mainstream/special environment
Acquisition delay
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Severe
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
Acquisition delay
Moderate
Accessing higher education
Permanent limitation
Severe
Accessing higher education
Acquisition delay
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a standard environment
Acquisition delay
Severe
Seeking employment
Permanent limitation
Severe
Seeking employment
Acquisition delay
Severe
Taking part in community life
Permanent limitation
Severe
Taking part in community life
Acquisition delay
Severe
Taking part in community life
Transient limitation
Severe
Playing with others
Permanent limitation
Severe
Playing with others
Acquisition delay
Severe
Playing with others
Transient limitation
Severe
Socializing
Permanent limitation
Severe
Socializing
Acquisition delay
Severe
Socializing
Transient limitation
Severe
Practicing sports
Permanent limitation
Complete
Practicing sports
Acquisition delay
Complete
Participating in the arts and cultural activities
Permanent limitation
Severe
Participating in the arts and cultural activities
Acquisition delay
Severe
Participating in the arts and cultural activities
Transient limitation
Severe
Travelling
Acquisition delay
Severe
Travelling
Transient limitation
Severe
Occasional
Temporality
Severity
Falling asleep
Permanent limitation
Low
Staying asleep
Permanent limitation
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Acquisition delay
Severe
Not defined
Sitting
Transferring oneself
Handling stress, responsabilities, emergencies and ensuring one's safety
Handling emotions and mood
Controlling one's own general behaviour
Maintaining family relationships
Dealing with strangers
Shopping
Cooking/preparing meals
Doing housework
Looking after/helping others
Performing professional tasks
Handling money/managing one's own budget
Carrying out administrative procedures
Undertaking a simple task
Undertaking a complex/multiple task
Carrying out daily routines
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
Temperature
Seasonal cycles
Source: Expert
Last update: 04/06/2019

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