To be able to improve care for adults with achondroplasia, it is important to understand current practices and care provision from the perspective of both the healthcare provider and the recipients of care. Increasing understanding of current practices will enable consideration of how progress can be made towards improved and needs-centred care for adults with achondroplasia. We undertook this study to improve our understanding of current practices in light of recent recommendations advocating for lifelong care by an MDT [1, 2]. This study demonstrates that coordinated MDT care for adults with achondroplasia is not common practice in most countries that responded to the survey. The transition from paediatric to adult care is generally not well coordinated, and many patients are lost to follow up. Main barriers to effective care reported by the HCPs and PAG representatives included reduced availability of MDT services for adults with achondroplasia, adult care is generally not well coordinated, adult MDT service is not as experienced in achondroplasia management as the paediatric MDT, and lack of interest/resistance from the individual with achondroplasia to access care.
The EAF Guiding Principles of Management and an International Consensus Statement both advocate for lifelong MDT management [1, 2], however the results of our survey indicate that current practice for the care of adults with achondroplasia is suboptimal in many countries. Among the centres who responded, coordinated MDT care for adults with achondroplasia does not always exist in practice. It was also observed that there was reduced availability of MDT services for achondroplasia as individuals transitioned from the paediatric to the adult setting, and adult care was generally not well coordinated. Our results indicate that, to the knowledge of the respondents, in some countries in Europe individuals are increasingly lost to follow up after paediatric care or following the transition to adult services. The process of transition is inadequate, with 50% of PAG responders describing their experience as poor or very poor, and none describing the experience as good. There is little way of knowing where and how individuals access care later in life.
The period of transition to adult care occurs at a time of great change in a young person’s life, when their concerns and priorities are changing [25, 26]. There is evidence to suggest that health behaviours established in adolescence persist into adulthood , so this is an optimal time to engage young people in their own care. The PAG representatives identified disinterest in clinical care as a barrier for adolescents and young people, in addition to the possibility that they are likely to be fairly healthy at the time in their lives when transition to adult care takes place. They acknowledged that young people may also feel fatigued by the extent of care they have received as children and feelings of embarrassment may begin to emerge in discussing their condition. As the roles of the parents and young people evolve, with individuals wanting increasing independence over managing their care , young adults may wish to take ownership of their condition without their parents attending appointments [25, 26].
A key barrier to effective transition and care of adults with achondroplasia identified by both the PAG representatives and the HCPs was a resistance to access care as an adult. Healthcare utilisation can be affected by many factors including availability, proximity, timeliness and convenience, whether patients can receive the care they need, and whether there are providers to meet those needs . The HCP and PAG representatives identified that the lack of availability of coordinated care, as well as the unsatisfactory transition to adult services, lack of understanding of the natural progression of achondroplasia and lack of clarity on where the experts in achondroplasia are could all be contributing factors to the resistance of adults to access care. The level of expertise at the point of access to care is also a concern , with one PAG representative commenting that “If we don’t go to someone with experience in skeletal dysplasia, most of the appointment is spent explaining skeletal dysplasia—rather than the health issue being experienced.” Being listened to and understood is key to young people . With limited access to specialists in the management of achondroplasia during the transition period and into adulthood, individuals may feel they are not transitioning to a valuable service.
The PAG respondents and HCPs at the EAF open session outlined several key areas of importance in the care of adults with achondroplasia. These were: the ability to access care independently (e.g., without parental assistance), increased health literacy to understand their own condition and complications that may arise through the lifespan, HCP education, clear identification of specialists with experience in the follow up and care of adults with achondroplasia, and clearly identified referral pathways to access specialists when needed. Self-healthcare management was presented as a real-life example by PAG representatives. This involves an individual being responsible for their own care and holding their own records, accessing healthcare services when needed and taking their own records to appointments. Some of the PAG representatives attending the EAF open session already hold their own records but stressed the importance of good referral pathways for this to be effective.
There were some differences in the perception of healthcare provision between the HCP and PAG respondents. The HCPs and PAG representatives largely agreed on the most frequently accessed specialists in adulthood, with orthopaedic surgeons, physiotherapists, rehabilitation specialists, rheumatologists, clinical geneticists, and social workers ranking highly in both surveys. The HCPs also ranked pulmonologists and obstetricians/gynaecologists highly, whereas the PAG representatives prioritised neurosurgeons and genetic counsellors, indicating a discrepancy in the understanding of care needed outside of the core specialties.
Given the wide variety of specialities involved in the care of adults with achondroplasia, a lead physician experienced in achondroplasia is needed to coordinate care [1, 2]. The lead physician and where they are based (e.g., primary care, hospital, centre of excellence) will vary by country and healthcare system. While an adult MDT may not be based in a single clinic, appropriate management of all the issues associated with achondroplasia throughout the life stages is required for optimal outcomes . There must be sufficient expertise in the core MDT, with access to further specialists when required. As per the recommendations [1, 2], those managing achondroplasia must be experienced in the condition; a family doctor or general practitioner is unlikely to have sufficient knowledge to access the full range of services required by an individual with achondroplasia. In some systems, specialist nurses could be a pivotal contact between the individual and the MDT.
As the participating centres are Centres of Excellence or are led by specialists in the management of achondroplasia, it can be assumed that these centres would provide optimal transition processes and management of achondroplasia in adults. However, the results of our survey indicate that, despite this and despite the recent guidelines, current practice for the care of adults with achondroplasia in the responding centres is suboptimal. It can therefore be assumed that care of young people and adults with achondroplasia outside of these centres is also lacking.
There are several limitations to our study. The HCP survey was circulated to members of the EAF Steering Committee and their colleagues, introducing inclusion bias as most respondents were specialists in achondroplasia management and are based in university/teaching hospitals. Even so, where positive bias would have been expected, the results, even in specialist referral centres, show there is frequently a lack of structured care for adults with achondroplasia. All but one of the HCP respondents managed a greater number of children than adults, although most had some adult patients at their centre. The PAG survey was circulated to more than 20 PAG organisations in Europe supporting individuals with achondroplasia and their families, and while the respondents are representative of different patient communities, it is likely that some individual views were expressed. In addition, not all respondents answered all questions fully. Anecdotally, advocacy groups serve a minority of individuals, and many groups mostly support families with young children as these are often more interested in updated information and communication. Adults with achondroplasia are not involved in advocacy organisations as often, possibly because they have not been in contact with a PAG as children, and/or may not perceive a need for support. As such, a comprehensive picture of the needs of the broad patient community and individual experiences of adults were not fully gathered. Based on this work, conclusions that apply to the whole achondroplasia community in Europe cannot be drawn. However, with some well-known European achondroplasia centres taking part, and some of the most vocal and active patient groups from European countries represented, this was an important initial step to begin increasing our understanding of the wider picture for young people transitioning from paediatric to adult services, and for adults with achondroplasia.