ABSTRACT
This systematic review investigates Patient-reported Outcome Measures (PROMs) and Observed Reported Outcome Measures (ObsROMs) pertinent to assessing Health-Related Quality of Life (HRQoL) in short-stature paediatric patients, focusing on Achondroplasia (ACH), Growth Hormone Deficiency (GHD), Isolated Growth Hormone Deficiency (IGHD), and Small-for-Gestational-Age (SGA) diagnoses. Utilising rigorous selection criteria, 53 studies published from 1998 to 2023 were analysed, revealing a predominance of European-based research. Notably, the review elucidated the utilisation of disease-specific and generic HRQoL measures, showcasing the multifaceted nature of short-stature conditions and their impact across physical, emotional, and social domains. The Quality of Life in Short Stature Youth (QoLISSY), Paediatric Quality of Life Inventory (PedsQL), and KIDSCREEN emerged as frequently employed instruments, offering nuanced insights into HRQoL perceptions across diverse age demographics. Additionally, the review highlighted the adaptation of adult HRQoL measures for adolescent populations, signalling a need for age-appropriate assessment tools. Furthermore, integrating PROMs and ObsROMs in HRQoL assessment underscored a comprehensive approach, considering both subjective patient perspectives and observed outcomes. Future research directions encompass comprehensive search strategies, longitudinal studies with diverse populations, and the development of age-appropriate HRQoL assessment tools. In conclusion, this review emphasises the importance of comprehensive HRQoL assessment to address the diverse needs of short-stature paediatric patients effectively.
ABSTRACT
Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines. To address this, the European Achondroplasia Forum has developed a patient-held checklist to support adults with achondroplasia in managing their health. The checklist highlights key symptoms of spinal stenosis and obstructive sleep apnoea, both among the most frequent and potentially severe medical complications in adults with achondroplasia. The checklist acts as a framework to support individuals and their primary care provider in completing a routine review. General advice on issues such as blood pressure, pain, hearing, weight, adaptive aids, and psychosocial aspects are also included. The checklist provides key symptoms to be aware of, in addition to action points so that people can approach their primary care provider and be directed to the appropriate specialist, if needed. Additionally, the European Achondroplasia Forum offers some ideas on implementing the checklist during the transition from paediatric to adult care, thus ensuring the existing multidisciplinary team model in place during childhood can support in engaging individuals and empowering them to take responsibility for their own care as they move into adulthood.