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ORPHA:60040  Megalencephaly-capillary malformation-polymicrogyria 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
Low
Learning
Acquisition delay
Moderate
Learning to read
Permanent limitation
Low
Learning to read
Acquisition delay
Moderate
Learning to write
Permanent limitation
Low
Learning to write
Acquisition delay
Moderate
Learning to calculate
Permanent limitation
Low
Learning to calculate
Acquisition delay
Moderate
Reading
Permanent limitation
Low
Reading
Acquisition delay
Moderate
Writing
Permanent limitation
Low
Writing
Acquisition delay
Moderate
Calculating
Permanent limitation
Low
Calculating
Acquisition delay
Moderate
Focusing attention
Permanent limitation
Low
Focusing attention
Acquisition delay
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Acquisition delay
Moderate
Receiving messages
Permanent limitation
Low
Receiving messages
Acquisition delay
Low
Receiving nonverbal messages
Permanent limitation
Low
Receiving nonverbal messages
Acquisition delay
Low
Receiving written messages
Permanent limitation
Low
Receiving written messages
Acquisition delay
Low
Speaking
Permanent limitation
Low
Speaking
Acquisition delay
Low
Producing messages in sign language
Permanent limitation
Moderate
Producing messages in sign language
Acquisition delay
Low
Producing nonverbal messages
Permanent limitation
Moderate
Producing nonverbal messages
Acquisition delay
Low
Writing messages
Permanent limitation
Moderate
Writing messages
Acquisition delay
Moderate
Participating in a conversation
Permanent limitation
Moderate
Participating in a conversation
Acquisition delay
Moderate
Using communication devices
Permanent limitation
Moderate
Using communication devices
Acquisition delay
Moderate
Bending
Permanent limitation
Low
Bending
Acquisition delay
Moderate
Transferring oneself
Permanent limitation
Low
Transferring oneself
Acquisition delay
Moderate
Reaching and catching objects
Permanent limitation
Low
Lifting and carrying objects
Permanent limitation
Moderate
Lifting and carrying objects
Acquisition delay
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Handling objects (fine hand use)
Acquisition delay
Moderate
Walking short distances
Permanent limitation
Low
Walking short distances
Acquisition delay
Low
Walking long distances
Permanent limitation
Moderate
Walking long distances
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Moderate
Washing oneself
Permanent limitation
Moderate
Washing oneself
Acquisition delay
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Moderate
Dressing/undressing
Permanent limitation
Moderate
Dressing/undressing
Acquisition delay
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Moderate
Controlling one's own general behaviour
Permanent limitation
Low
Controlling one's own general behaviour
Acquisition delay
Low
Moving around outside the home
Permanent limitation
Moderate
Moving around outside the home
Acquisition delay
Moderate
Moving around using transportation
Permanent limitation
Moderate
Moving around using transportation
Acquisition delay
Moderate
Using transportation
Permanent limitation
Moderate
Using transportation
Acquisition delay
Moderate
Driving
Permanent limitation
Moderate
Driving
Acquisition delay
Moderate
Interacting with other people
Permanent limitation
Low
Interacting with other people
Acquisition delay
Moderate
Making/keeping friends
Permanent limitation
Low
Making/keeping friends
Acquisition delay
Moderate
Dealing with strangers
Permanent limitation
Moderate
Dealing with strangers
Acquisition delay
Moderate
Daily activities
Acquisition delay
Moderate
Household
Permanent limitation
Moderate
Household
Acquisition delay
Moderate
Shopping
Permanent limitation
Moderate
Shopping
Acquisition delay
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Cooking/preparing meals
Acquisition delay
Moderate
Doing housework
Permanent limitation
Moderate
Doing housework
Acquisition delay
Moderate
Looking after/helping others
Permanent limitation
Moderate
Looking after/helping others
Acquisition delay
Moderate
Attending preschool
Permanent limitation
Low
Attending preschool
Acquisition delay
Low
Attending mainstream school
Acquisition delay
Moderate
Attending school in an adapted mainstream/special environment
Permanent limitation
Low
Attending school in an adapted mainstream/special environment
Acquisition delay
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Moderate
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
Moderate
Accessing higher education
Acquisition delay
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Acquisition delay
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Acquisition delay
Moderate
Seeking employment
Permanent limitation
Moderate
Seeking employment
Acquisition delay
Moderate
Performing professional tasks
Permanent limitation
Moderate
Performing professional tasks
Acquisition delay
Moderate
Handling money/managing one's own budget
Permanent limitation
Moderate
Handling money/managing one's own budget
Acquisition delay
Moderate
Undertaking a simple task
Permanent limitation
Moderate
Undertaking a simple task
Acquisition delay
Moderate
Undertaking a complex/multiple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Acquisition delay
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Carrying out daily routines
Acquisition delay
Moderate
Taking part in community life
Permanent limitation
Low
Taking part in community life
Acquisition delay
Low
Playing with others
Permanent limitation
Low
Playing with others
Acquisition delay
Low
Socializing
Permanent limitation
Low
Socializing
Acquisition delay
Low
Practicing sports
Permanent limitation
Moderate
Practicing sports
Acquisition delay
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Participating in the arts and cultural activities
Acquisition delay
Moderate
Travelling
Permanent limitation
Moderate
Travelling
Acquisition delay
Moderate
Frequent
Temporality
Severity
Reaching and catching objects
Acquisition delay
Low
Washing oneself
Permanent limitation
Low
Washing oneself
Acquisition delay
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Low
Dressing/undressing
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
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Acquisition delay
Severe
Engaging in and maintaining intimate relationships
Acquisition delay
Moderate
Engaging in sexual relationships
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Moderate
Engaging in sexual relationships
Acquisition delay
Severe
Engaging in sexual relationships
Acquisition delay
Moderate
Attending mainstream school
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Low
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a standard environment
Acquisition delay
Severe
Engaging in paid work in a supported/sheltered environment
Acquisition delay
Severe
Seeking employment
Acquisition delay
Severe
Performing professional tasks
Permanent limitation
Severe
Performing professional tasks
Acquisition delay
Severe
Handling money/managing one's own budget
Permanent limitation
Severe
Handling money/managing one's own budget
Acquisition delay
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Acquisition delay
Severe
Taking part in community life
Permanent limitation
Moderate
Taking part in community life
Acquisition delay
Moderate
Playing with others
Permanent limitation
Moderate
Playing with others
Acquisition delay
Moderate
Socializing
Permanent limitation
Moderate
Socializing
Acquisition delay
Moderate
Participating in the arts and cultural activities
Permanent limitation
Severe
Participating in the arts and cultural activities
Acquisition delay
Severe
Travelling
Permanent limitation
Severe
Travelling
Acquisition delay
Severe
Occasional
Temporality
Severity
Learning
Permanent limitation
Moderate
Learning
Acquisition delay
Low
Learning to read
Permanent limitation
Moderate
Learning to read
Acquisition delay
Low
Learning to write
Permanent limitation
Moderate
Learning to write
Acquisition delay
Low
Learning to calculate
Permanent limitation
Moderate
Learning to calculate
Acquisition delay
Low
Reading
Permanent limitation
Moderate
Reading
Acquisition delay
Low
Writing
Permanent limitation
Moderate
Writing
Acquisition delay
Low
Calculating
Permanent limitation
Moderate
Calculating
Acquisition delay
Low
Focusing attention
Permanent limitation
Unspecified
Focusing attention
Acquisition delay
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Acquisition delay
Unspecified
Receiving messages
Permanent limitation
Moderate
Receiving messages
Acquisition delay
Moderate
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving nonverbal messages
Acquisition delay
Moderate
Receiving written messages
Permanent limitation
Moderate
Receiving written messages
Acquisition delay
Moderate
Speaking
Permanent limitation
Moderate
Speaking
Acquisition delay
Moderate
Producing messages in sign language
Permanent limitation
Unspecified
Producing messages in sign language
Acquisition delay
Moderate
Producing nonverbal messages
Permanent limitation
Unspecified
Producing nonverbal messages
Acquisition delay
Moderate
Writing messages
Permanent limitation
Unspecified
Writing messages
Acquisition delay
Severe
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
Bending
Permanent limitation
Moderate
Bending
Acquisition delay
Unspecified
Transferring oneself
Permanent limitation
Moderate
Transferring oneself
Acquisition delay
Severe
Reaching and catching objects
Permanent limitation
Unspecified
Reaching and catching objects
Acquisition delay
Moderate
Lifting and carrying objects
Permanent limitation
Unspecified
Lifting and carrying objects
Acquisition delay
Unspecified
Handling objects (fine hand use)
Permanent limitation
Severe
Handling objects (fine hand use)
Acquisition delay
Severe
Walking short distances
Permanent limitation
Moderate
Walking short distances
Acquisition delay
Moderate
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
Dressing/undressing
Acquisition delay
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Unspecified
Controlling one's own general behaviour
Permanent limitation
Moderate
Controlling one's own general behaviour
Acquisition delay
Moderate
Moving around outside the home
Permanent limitation
Severe
Moving around outside the home
Acquisition delay
Severe
Moving around using transportation
Permanent limitation
Severe
Moving around using transportation
Acquisition delay
Severe
Using transportation
Permanent limitation
Severe
Using transportation
Acquisition delay
Severe
Driving
Permanent limitation
Severe
Driving
Acquisition delay
Severe
Interacting with other people
Permanent limitation
Moderate
Interacting with other people
Acquisition delay
Severe
Making/keeping friends
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Unspecified
Dealing with strangers
Acquisition delay
Severe
Daily activities
Permanent limitation
Unspecified
Daily activities
Acquisition delay
Unspecified
Household
Permanent limitation
Unspecified
Household
Acquisition delay
Severe
Shopping
Permanent limitation
Unspecified
Shopping
Acquisition delay
Severe
Cooking/preparing meals
Permanent limitation
Unspecified
Cooking/preparing meals
Acquisition delay
Severe
Doing housework
Permanent limitation
Unspecified
Doing housework
Acquisition delay
Severe
Looking after/helping others
Permanent limitation
Unspecified
Looking after/helping others
Acquisition delay
Severe
Attending preschool
Permanent limitation
Unspecified
Attending preschool
Acquisition delay
Moderate
Attending mainstream school
Acquisition delay
Severe
Attending school in an adapted mainstream/special environment
Permanent limitation
Unspecified
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
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Acquisition delay
Severe
Accessing higher education
Permanent limitation
Severe
Accessing higher education
Acquisition delay
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Severe
Undertaking a simple task
Acquisition delay
Severe
Carrying out daily routines
Permanent limitation
Severe
Carrying out daily routines
Acquisition delay
Severe
Practicing sports
Permanent limitation
Severe
Practicing sports
Acquisition delay
Severe
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
Humidity
Day/night cycles
Seasonal cycles
Sound
Vibrations
Air quality
Source: [Expert]
Last update: 01/07/2019

Additional information

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