Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the International Classification of Functioning Disability and Health: the Achondroplasia Personal Life Experience Scale (APLES)

Abstract

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.

Quality of life of children with achondroplasia and their parents - a German cross-sectional study

“…The present study is part of the Achondroplasia Personal Life Scale Experience Scale study that focused on developing a questionnaire to assess quality of life and functioning in children and adolescents with achondroplasia based on the International Classification of Functioning, Disability, and Health [15]. The current analyses used data from the field test phase.…”

“…Therefore, quality of life as a central patient-reported outcome measure became an important health indicator in the context of the care of chronically ill patients [13, 14]. According to this relevance, we have developed and tested a patient-reported outcome instrument for young people with achondroplasia, emphasizing the benefits of this disease-specific instrument [15, 16].…”

Achondroplasia: a comprehensive clinical review

“…Unfortunately many quality of life studies have combined various skeletal dysplasias, and in only some can the specific effects of achondroplasia be parsed from the presented data [332–334]. Very few studies that can be considered assessments, in one way or another, of quality of life have been published specifically regarding achondroplasia [335–339].…”

“…A diagnosis specific instrument for assessment of quality of life in achondroplasia has been developed [337, 339]. Called the “APLES” (Achondroplasia Personal Life Experience Scale) this could be of utility in the assessment of individuals (older children and young adults) with achondroplasia compared with their diagnostically identical peers.…”

Assessing physical symptoms, daily functioning, and well‐being in children with achondroplasia

“…While the clinical complications and medical impacts of achondroplasia in children are well studied, there is limited research on broader impacts on children's lives, including daily functioning, emotional well‐being, and social well‐being (Bloemeke et al, 2019; Dogba, Rauch, Douglas, & Bedos, 2014; Gollust, Thompson, Gooding, & Biesecker, 2003; Sommer et al, 2017). Children with achondroplasia experience a lower general quality of life, on average, in terms of physical, emotional, social, and school functioning, compared to a reference population (Witt et al, 2019).…”