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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
If you would like to take the survey later, you can click on the link at the top "Register at BA"
Achondroplasia is associated to some restrictions or limitations in certain activities. Orphanet has published a page dedicated to what limitations a person with achondroplasia may experience, organizing them by how frequently these limitations are present in this population, classifying them in terms of temporality (if they are permanent or transient) and severity.
 
This list makes clear what can be expected from achondroplasia on a day-to-day basis and allows people and families with this condition to prepare accordingly, by finding solutions to these challenges, making use of adaptation devices and adapting the environment (such as the household and school).

 

Very frequent

 

Activity Temporality Severity
Caring for body parts (skin, teeth, nails, hair, genitals) Permanent limitation Moderate
Dressing/undressing Permanent limitation Moderate
Driving Permanent limitation Severe
Shopping Permanent limitation Moderate
Cooking/preparing meals Permanent limitation Moderate
Doing housework Permanent limitation Moderate
Looking after/helping others Permanent limitation Moderate
Learning a profession (vocational training/apprenticeship) in the 
standard environment 
Permanent limitation Moderate
Seeking employment Permanent limitation Severe
Taking part in community life Permanent limitation Moderate
Traveling Permanent limitation Severe

 

Frequent

 

Activity Temporality Severity
Standing Permanent limitation Low
Maintaining a standing position Permanent limitation Moderate
Walking long distances Permanent limitation Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...) Permanent limitation Moderate
Moving around within the home Permanent limitation Moderate
Moving around outside the home Permanent limitation Severe
Using transportation Permanent limitation Moderate
Interacting with other people Permanent limitation Moderate
Making/keeping friends Permanent limitation Moderate
Dealing with strangers Permanent limitation Moderate
Engaging in and maintaining intimate relationships Permanent limitation Moderate
Engaging in sexual relationships Permanent limitation Moderate

Learning a profession (vocational training/apprenticeship) in an adapted 
mainstream/special environment 

Permanent limitation Moderate
Accessing higher education Permanent limitation Moderate
Engaging in paid work in a standard environment Permanent limitation Moderate
Engaging in paid work in a supported/sheltered environment Permanent limitation Moderate
Performing professional tasks Permanent limitation Moderate
Playing with others Permanent limitation Moderate
Socializing Permanent limitation Moderate
Practicing sports Permanent limitation Severe
Participating in the arts and cultural activities Permanent limitation Severe

 

 Occasional

 

Activity Temporality Severity
Reaching and catching objects Transient limitation Moderate
Lifting and carrying objects Transient limitation Moderate
Handling objects (fine hand use)  Permanent limitation Low
Washing oneself Permanent limitation Low
Getting good quality sleep Permanent limitation Low
Staying awake Permanent limitation Low

 

Some activities/skills can also be delayed in acquisition by children with this condition. This is important information for parents of children with achondroplasia and these possibly delayed activities are listed below by frequency:

 

Frequent

 

Activity Temporality Severity
Standing Acquisition delay Severe
Sitting Acquisition delay Severe
Bending Acquisition delay Low
Maintaining a standing position Acquisition delay Moderate
Handling objects (fine hand use) Acquisition delay Low
Walking long distances Acquisition delay Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)  Acquisition delay Moderate
Washing oneself Acquisition delay Moderate

 

Occasional

 

 

Activity Temporality Severity
Maintaining head position Acquisition delay Low
Reaching and catching objects Acquisition delay Low
Lifting and carrying objects Acquisition delay Low
Walking short distances Acquisition delay Low
Attending preschool Acquisition delay Moderate
Attending mainstream school Acquisition delay Moderate
Attending school in an adapted mainstream/special environment  Acquisition delay Moderate

 

 

In addition to these limitations, it is also necessary to keep in mind food intake as a factor that, if properly managed, may improve or limit the restrictions imposed by this condition. You can check the our nutritional guide here, based on Dr. Kathryn Lamb's thesis entitled "Development Of Food Guide Pyramid For Individuals With Achondroplasia".

 

Sources

 

  1. Orphanet. ORPHA:15 Achondroplasia. Disability 2019  [cited 2019 14/03].
  2. Lamb, K.E., Development Of Food Guide Pyramid For Individuals With Achondroplasia, in Food and Nutrition2012, University of Carbondale: Southern Illinois.
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