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ORPHA:235  Dubowitz 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
Receiving messages
Permanent limitation
Severe
Frequent
Temporality
Severity
Learning
Permanent limitation
Moderate
Learning
Acquisition delay
Low
Acquiring language
Permanent limitation
Moderate
Acquiring language
Acquisition delay
Low
Learning to read
Permanent limitation
Moderate
Learning to read
Acquisition delay
Moderate
Learning to write
Permanent limitation
Moderate
Learning to write
Acquisition delay
Moderate
Learning to calculate
Permanent limitation
Moderate
Learning to calculate
Acquisition delay
Moderate
Applying knowledge
Permanent limitation
Moderate
Applying knowledge
Acquisition delay
Moderate
Reading
Permanent limitation
Moderate
Reading
Acquisition delay
Moderate
Writing
Permanent limitation
Moderate
Writing
Acquisition delay
Moderate
Calculating
Permanent limitation
Moderate
Calculating
Acquisition delay
Moderate
Cognitive abilities
Permanent limitation
Moderate
Cognitive abilities
Acquisition delay
Moderate
Focusing attention
Permanent limitation
Moderate
Focusing attention
Acquisition delay
Moderate
Memorizing and retrieving
Permanent limitation
Moderate
Memorizing and retrieving
Acquisition delay
Low
Thinking and reasoning
Permanent limitation
Moderate
Thinking and reasoning
Acquisition delay
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Communicating with others
Permanent limitation
Moderate
Communicating with others
Acquisition delay
Moderate
Receiving messages
Transient limitation
Complete
Self-care
Permanent limitation
Moderate
Self-care
Acquisition delay
Moderate
Temperament and behaviour
Permanent limitation
Unspecified
Temperament and behaviour
Acquisition delay
Unspecified
Temperament and behaviour
Transient limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Unspecified
Handling emotions and mood
Permanent limitation
Unspecified
Handling emotions and mood
Acquisition delay
Unspecified
Handling emotions and mood
Transient limitation
Unspecified
Controlling one's own general behaviour
Permanent limitation
Unspecified
Controlling one's own general behaviour
Acquisition delay
Unspecified
Controlling one's own general behaviour
Transient limitation
Unspecified
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Moderate
Hearing/listening
Permanent limitation
Moderate
Learning
Permanent limitation
Severe
Cognitive abilities
Permanent limitation
Severe
Washing oneself
Permanent limitation
Unspecified
Washing oneself
Acquisition delay
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Unspecified
Regulating urination
Permanent limitation
Unspecified
Regulating urination
Acquisition delay
Unspecified
Regulating defecation
Permanent limitation
Unspecified
Regulating defecation
Acquisition delay
Unspecified
Dressing/undressing
Permanent limitation
Unspecified
Dressing/undressing
Acquisition delay
Unspecified
Eating
Permanent limitation
Unspecified
Eating
Acquisition delay
Unspecified
Sleeping/staying awake
Permanent limitation
Unspecified
Sleeping/staying awake
Acquisition delay
Unspecified
Falling asleep
Permanent limitation
Unspecified
Falling asleep
Acquisition delay
Unspecified
Staying asleep
Permanent limitation
Unspecified
Staying asleep
Acquisition delay
Unspecified
Getting good quality sleep
Permanent limitation
Unspecified
Getting good quality sleep
Acquisition delay
Unspecified
Interpersonal skills
Permanent limitation
Moderate
Interpersonal skills
Acquisition delay
Moderate
Interacting with other people
Permanent limitation
Moderate
Interacting with other people
Acquisition delay
Moderate
Making/keeping friends
Permanent limitation
Moderate
Making/keeping friends
Acquisition delay
Moderate
Dealing with strangers
Permanent limitation
Moderate
Dealing with strangers
Acquisition delay
Moderate
Social life
Permanent limitation
Moderate
Social life
Acquisition delay
Moderate
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
Not defined
Drinking
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: Dr. Chantal FARRA[Expert]
Last update: 20/06/2018

Additional information

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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.