Assessing Health-related Quality of Life (HRQoL) in achondroplasia
What is quality of life?
There is no single definition for Quality of Life, though there have been many attempts to define it. Similar to their definition of health, the World Health Organization's (WHO) definition is among the most comprehensive definitions of quality of life:
"...individuals' perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards and concerns. It is a broad ranging concept affected in a complex way by the person's physical health, psychological state, level of independence, social relationships, personal beliefs and their relationship to salient features of their environment".
Health Related Quality of Life (HRQoL) is a multi-dimensional tool including physical, psychological, functional, and social domains related to a person's perception of quality of life affected by health status.
The term HRQoL has been widely adopted and promoted within the Health Technology Assessment (HTA) community and includes:
- self-reported health
- patient-assessed outcomes
- patient-reported outcomes (PRO)
- person-reported outcomes
- patient outcomes
- outcomes
Why measure Health-Related Quality of Life?
- Patients, healthcare providers and payers are interested in the added value a technology/drug/surgery has to offer. HRQoL can serve as a common measure of gains from any technology.
- HRQoL measures provide useful information to care providers as they can be used to screen and monitor patients for psychosocial problems or when auditing healthcare practice.
- HRQoL measures can be used in population surveys of perceived health problems or other aspects of health-services or evaluation research.
Use of HRQoL in achondroplasia
Achondroplasia (ACH) is the most frequent skeletal dysplasia (SK) with an average worldwide prevalence of 1:20.000 (1 case in every 20.000 births). ACH and the additional 400 forms that characterize the spectrum of SD are often associated with musculoskeletal and neurological abnormalities, including foramen magnum stenosis, thoracolumbar kyphosis, and spinal stenosis.
Beyond the genetic condition, achondroplasia, unleashes a series of physical and social constraints. And in order to develop adequate treatments, it is important to assess what the factors that patients perceive as the most important to their well being are.
A recent article by Haider HA. et al "Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias", Qual Life Res. 2016, sets up lines to assess these parameters:
"Numerous factors associate with health disparities. The extent to which such factors influence health related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores."
- "A total of 189 people, with ages ranging from 19 to 80 years old, and members of Little People of America, completed the survey on Physical Component Summary, PCS; Mental Component Summary, MCS, and compared to the average population scores.
- Quality of life scale used was the SF-12
- 56.4% (106 in 189 people) had achondroplasia.
- Mean of PCS and MCS were below the national mean of 50 (The average of the answers showed that adults with achondroplasia perceive to have a reduced physical ability to the daily life).
- Advancing decade of age corresponded to a significant decline in PCS, but not MCS. This is very revealing, indicating the decay of physical capacities, each plus 10 years of age.
- Pain prevalence was high (79.4%); however, only 5.9% visited a pain specialist.
- 38.7% had lower PCS after 40 years-old
- For MCS, significant factors included a lack of social support and being treated differently or feeling stigmatized by health care providers (Doctors, nurses, therapists)
- Individuals with Skeletal dysplasia face documented disparities and report lower HRQOL."
"Individuals with achondroplasia had significantly lower self-esteem as well as lower Quality life index (QLI) across all of the survey's subdomains: health/functioning, social/economic, psychological/spiritual, and family."
"Most individuals (87.3%) did not participate in other social support groups in addition to LPA and receive social support from family/friends (83.6%)"
Study conclusions :
- "Findings demonstrate significant disparities in the HRQOL of adults with SD, corresponding to a high prevalence of persistent pain, physical and mental health scores lower than the national average of the USA and stigmatized interactions with health care providers.
- Findings suggest that efforts to address physical state decline in aging SD populations (e.g., enhancements in preventative services during early adulthood when access to health care and preventative interventions is fragmented) could prove crucial in decreasing the severity of issues within this population.
- Given the high prevalence of pain and the reportedly low receipt of treatment from a pain specialist, particularly among children/adolescents, there remains a need to develop interventions that promote social awareness and/or treatment policy to provide more appropriate care."
Further research and interventions are needed to help modify and understand nuanced factors influencing these results.
