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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"
Patient-reported outcomes instruments are questionnaires that assess an individual's perception of his/her Health-Related Quality of Life (HRQoL), which includes their perception of their physical, emotional, mental and social states (more information on quality of life here).

The World Health Organization made a framework for the assessment of the health and disability of any person: the International Classification of Functioning, Disability and Health (ICF), which includes a Children and Youth version, which includes specific childhood aspects of life (such as parent-child relationships) [1]. This framework provides a universal terminology for the documentation and assessment of a child's life in clinical, public health and research and is based on this that HRQoL instruments are based [2].

Although there patient-reported outcomes instruments exist for the general population, disease-specific patient-reported outcomes instruments are necessary for the assessment of that disease's specific restrictions, especially on chronic and rare diseases.

To fill the lack of achondroplasia-specific patient-reported outcomes instruments, Bloemeke et al developed the Achondroplasia Personal Life Experience Scale (APLES), which provides a way for both the patient and the clinician to assess the patient's HRQoL in accordance with the ICF and published a paper on it's development.


Abstract


"BACKGROUND: This study describes the psychometric testing of the Achondroplasia Personal Life Experience Scale (APLES): a new disease- and functioning-specific health-related quality of life instrument for young people with achondroplasia, which was developed based on the International Classification of Functioning-Children and Youth Version.

METHOD: The qualitative analysis of focus group statements from German patients and parents using the International Classification of Functioning-Children and Youth Version yielded 59 items, which after cognitive debriefing were included in a pilot-test. Psychometric performance was cross-culturally examined in a field- and re-test in Germany and Spain.

RESULTS: Cognitive debriefing and pilot-test results suggested to reduce the 59-APLES version to a 35-items version. Field-test data showed acceptable reliability and validity, which further improved after the APLES was shortened to 21 items.

CONCLUSION: Developing a disease-specific instrument within the framework of the International Classification of Functioning allows the universal assessment and comparison of perceived health. Psychometric analysis showed that the APLES fulfills psychometric quality standards and provides a way to assess health-related quality of life from self- and observer report in young persons with achondroplasia. Further studies may use the instrument in clinical research and practice to understand perceived burden and to optimize care. Implications for Rehabilitation Health-related quality of life instruments are useful tools to include in clinical research and/or practice to evaluate treatment effects directly from the patient's perspective. Cross-culturally developed health-related quality of life measures that are based on the International Classification of Functioning Disability and Health provide the opportunity to assess the health status in a standardized language and to compare it across countries and health professions. All four components of the International Classification of Functioning Disability and Health - Child and Youth Version ("Body Functions & Structures", "Activities and Participation", "Environmental Factors", and "Personal Factors") have been shown to be relevant in assessing health-related quality of life and functioning in young achondroplasia patients. Results underline the important aspects associated with disproportionate short stature, emphasizing the benefits of a disease-specific instrument."

Sources

  1. World Health Organization (2018). "International Classification of Functioning, Disability and Health (ICF)." Classifications. Retrieved 02/04, 2018.
  2. World Health Organization (2007). "International Classification of Functioning, Disability and Health - Children and Youth Version. ICF-CY." Retrieved 02/04, 2018.
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