Homepage > Rare diseases > Disability

Search for a disease and its functional consequences

*
(*) mandatory field

ORPHA:908 Fragile X 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.

Environmental factors may however require particular attention for an optimal management of this disease. This information is restricted to the consequences of the disease and its management on functioning and daily life. Clinical aspects (including fatigue, pain, impact of the disease on the patient’s psychological state) are described through other documents (i.e. Disability factsheets).

Loss of an ability
Very frequent

Temporality
Severity
Accessing higher education
Permanent limitation
Severe
Acquiring language
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Severe
Being aware of time
Permanent limitation
Severe
Calculating
Permanent limitation
Severe
Dealing with strangers
Permanent limitation
Severe
Driving
Permanent limitation
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Severe
Focusing attention
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Severe
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Maintaining family relationships
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Moderate
Producing nonverbal messages
Permanent limitation
Unspecified
Reading
Permanent limitation
Unspecified
Receiving spoken messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Shopping
Permanent limitation
Unspecified
Socializing
Permanent limitation
Unspecified
Speaking
Permanent limitation
Unspecified
Thinking and reasoning
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Using transportation
Permanent limitation
Moderate
Writing
Permanent limitation
Unspecified
Writing messages
Permanent limitation
Severe
Frequent

Temporality
Severity
Attending preschool
Acquisition delay
Unspecified
Attending school in an adapted mainstream/special environment
Permanent limitation
Low
Being aware of space
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Complete
Carrying out daily routines
Acquisition delay
Low
Controlling one's own eating behaviour
Permanent limitation
Moderate
Controlling one's own eating behaviour
Acquisition delay
Severe
Controlling one's own general behaviour
Acquisition delay
Moderate
Controlling one's own general behaviour
Permanent limitation
Unspecified
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Dressing/undressing
Acquisition delay
Moderate
Eating
Acquisition delay
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Falling asleep
Acquisition delay
Moderate
Getting good quality sleep
Acquisition delay
Moderate
Handling emotions and mood
Acquisition delay
Moderate
Handling emotions and mood
Permanent limitation
Unspecified
Handling objects (fine hand use)
Permanent limitation
Low
Handling objects (fine hand use)
Acquisition delay
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Unspecified
Memorizing and retrieving
Permanent limitation
Low
Moving around outside the home
Permanent limitation
Moderate
Moving around outside the home
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Practicing sports
Permanent limitation
Unspecified
Receiving nonverbal messages
Permanent limitation
Unspecified
Regulating defecation
Acquisition delay
Moderate
Regulating urination
Acquisition delay
Moderate
Staying asleep
Acquisition delay
Moderate
Taking part in community life
Permanent limitation
Unspecified
Travelling
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Unspecified
Washing oneself
Acquisition delay
Moderate
Occasional

Temporality
Severity
Carrying out daily routines
Permanent limitation
Severe
Changing body position
Acquisition delay
Low
Controlling one's own general behaviour
Transient limitation
Complete
Dressing/undressing
Permanent limitation
Severe
Eating
Permanent limitation
Moderate
Falling asleep
Permanent limitation
Moderate
Getting good quality sleep
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Complete
Regulating defecation
Permanent limitation
Severe
Staying asleep
Permanent limitation
Moderate
Using transportation
Acquisition delay
Moderate
Walking long distances
Permanent limitation
Low
Walking short distances
Acquisition delay
Low
Washing oneself
Permanent limitation
Moderate
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.

Sound intensity
Source: Pr Vincent DES PORTES[Expert]_Mosaïque[Patient organisation]_Le Goëland[Patient organisation]_Pr Randi HAGERMAN[Expert]
Last update: 03/08/2020

Warning

The documents contained in thisweb 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.