Achondroplasia is the most common form of short-limbed short stature of genetic origin. Most people with achondroplasia live fully independent, productive, and socially engaged lives. However, the condition is associated with several potential medical complications. Individuals with achondroplasia may experience medical, functional, and psychosocial challenges at different times in their life. The goal for lifelong care of individuals with achondroplasia is to optimize their physical and mental health through provision of individualized care and to promote participation and inclusion in society. In this article, as a tool for individuals with achondroplasia, their families, and their healthcare team, we provide a guided overview of the 2022 International Consensus Statement for management and care of individuals with achondroplasia. The International Consensus Statement recommendations are based on current, best available knowledge. We provide commentary on the recommendations from the perspective of both patients and physicians through addressing medical/developmental considerations, the healthcare system, and psychosocial considerations.

Abstract Purpose Skeletal dysplasias are a heterogeneous group of 771 rare diagnoses, that present short stature as a common feature. Despite the importance of nutrition in health management, food literacy in this population remains largely unexplored. This study aimed to assess the level of food literacy among Portuguese adults with skeletal dysplasia. Methods A cross-sectional observational study was conducted among adults (> 18 years) with skeletal dysplasia (n = 43, 30 female). Data were collected through an online questionnaire comprising two sections: sociodemographic and clinical information and the Portuguese version of the Food Literacy Scale (FLS). The FLS covers three dimensions: literacy about the nutritional composition of food, literacy about labelling and food choices, and literacy about healthy eating practices. Food literacy scores were calculated as percentage indices. Descriptive statistics with 95% confidence intervals and subgroup comparison by sex and age were performed. Results Mean overall food literacy score was 60.8% (CI 95%: 54.7–66.9). Among the three dimensions, the highest mean score was observed for healthy eating practices, 62.0% (CI 95%: 56.4–67.6), and the lowest for labelling and food choices, 59.0% (CI 95%: 51.1–66.9). No statistically significant differences were found in overall food literacy or in any of its dimensions according to sex or age. Participants reported greater difficulty with recommended protein amounts, interpreting and using food labels, adhering to the Mediterranean diet, and recommended portion sizes. Conclusions Adults with skeletal dysplasia in Portugal showed modest food literacy scores, mainly in domains related to food labelling and food choices. Tailored nutrition education strategies and more easily accessible food-related guidance may help address the specific literacy gaps identified in this population.

Abstract Background Parents of children with achondroplasia face sustained caregiving demands that may affect multiple dimensions of well-being. Despite growing recognition of these challenges, no validated, condition-specific instrument exists to assess the quality of life (QoL) of parents of children with achondroplasia. This study aimed to develop, and pilot test the Quality of Life of Parents of Children with Achondroplasia (QOLA) questionnaire. Methods QOLA was developed using a multi-phase mixed-methods design in accordance with established standards for developing self-reported outcome measures for caregivers and parents. Phase 1 comprised semi-structured qualitative interviews with 17 parents of children with achondroplasia to identify relevant QoL domains and language. Interview data were analysed using qualitative content analysis and informed systematic item generation (Phase 2). Conceptual structure was examined through researcher-led card sorting (Phase 3) and two rounds of international card sorting following translation (Phase 4). The resulting 63-item questionnaire across eight domains was pilot-tested in a cross-sectional, multi-country study with embedded cognitive debriefing in Germany, Italy, and Portugal (total N = 50). Results The final pilot version of QOLA comprised 63 items across eight domains covering healthcare experiences, challenges and support, physical health, mental health, social life and relationships, coping, family and daily life, and worries and future concerns. Item-level missing data were minimal, and no pronounced floor or ceiling effects were observed. Internal consistency was acceptable to good for domains (α = 0.624–0.821) and good for the total scale (α = 0.798). Inter-domain correlations were generally moderate to strong. Cognitive debriefing was highly acceptable and relevant across countries, with some suggestions for further refinement. Conclusions QOLA shows strong preliminary evidence of acceptability and internal consistency and addresses a key measurement gap in achondroplasia research. Further large-scale psychometric validation is warranted.

INTRODUCTION:Achondroplasia is the most common skeletal dysplasia condition, characterized by disproportionate short stature and delayed motor development. Additional potential complications include bowed legs and hypotonia, otitis media, sleep apnea, and complications from spinal stenosis, which may impose potential burden on individuals with achondroplasia, as well as their families. No reliable, validated, and publicly available achondroplasia-specific clinical outcome assessment (COA) is currently available that can capture the experiences of children and adolescents with achondroplasia. We sought to determine whether existing COA measures have adequate concept coverage for use in clinical studies and understand the challenges for children/adolescents with achondroplasia and their parents through concept elicitation and cognitive debriefing interviews. METHODS:Children/adolescents with achondroplasia and parents of children with achondroplasia participated in combined concept elicitation and cognitive debriefing interviews. Issues raised by participants were mapped to four COA measures to evaluate their clarity, relevance, and appropriateness for use in achondroplasia studies. RESULTS:Eight children/adolescents (aged 11-16) and 18 parents were interviewed. The challenges most often reported by children/adolescents were feeling hot/sweaty (88%), pain (88%), balance issues or falls (75%), fatigue (63%), muscle fatigue/loose joints (63%), and speech issues (63%). Pain (83%), ear infections (78%), and feeling hot/sweaty (78%) were frequently reported by parents. Difficulty reaching things (88%), running (88%), and walking (75%) were the functional challenges most reported by children/adolescents, while parents most commonly reported difficulty reaching things (78%), toileting (63%), bathing (56%), walking (56%), running (56%), and dressing (50%). Results of response mapping indicated that the QoLISSY, PedsQL, WeeFIM, and Pain-NRS cover most of the important concepts mentioned by parents and children/adolescents. CONCLUSIONS:The PedsQL, QoLISSY, Pain-NRS, and WeeFIM are content valid, appropriate, and relevant to include in future studies of individuals with achondroplasia.

Transition care (TC) is crucial for young persons with rare bone and mineral conditions (RBMCs) as they move from pediatric to adult healthcare. Effective TC prevents care disruptions and supports medical and psychosocial needs. However, gaps in communication, a shortage of adult RBMC specialists, and challenges in navigating adult healthcare necessitate standardized care. This study aimed to develop consensus-based recommendations for TC in RBMCs, focusing on best practices for seamless transition and patient empowerment. A two-round Delphi survey (September 2023–April 2024) was conducted among European RBMC experts, including 3 pediatric and 8 adult clinicians and 3 patient representatives from the European Calcified Tissue Society (ECTS). The panel formulated and refined statements through literature review and iterative scoring. Statements reaching ≥ 70% consensus were retained. A total of 81 statements were finalized across seven domains: initiation and planning, TC requirements, patient empowerment, organization and communication, service infrastructure and funding, and clinical care. Consensus was achieved on 64 out of 81 statements, with strong agreement on general and RBMC-specific recommendations. Key priorities included structured coordination among healthcare providers and a patient-centered approach that fosters self-advocacy and self-management. This Delphi consensus provides a structured framework for TC in young persons with RBMCs, emphasizing multidisciplinary care and patient empowerment. Future studies should assess the feasibility and impact of these guidelines across diverse healthcare systems.

Achondroplasia is a rare skeletal dysplasia, characterized by disproportionate short stature and predisposition to obesity. There is limited evidence on nutritional adequacy in adults with achondroplasia. This study aimed to assess nutrient intake and adequacy in adults with achondroplasia, exploring associations with anthropometric characteristics and physical activity patterns. An exploratory cross-sectional study evaluated 16 Portuguese adults with achondroplasia (10 women), aged 38.4 ± 13.8 years). Nutrient intake was assessed using a validated food frequency questionnaire and evaluated against reference values from the European Food Safety Authority. Anthropometric body composition parameters were assessed using standardized methods and physical activity levels using the International Physical Activity Questionnaire. Most participants (62.5

BACKGROUND:Limb lengthening surgery is a contentious option for individuals with achondroplasia. This study aimed to assess real-world experiences, outcomes, and perspectives on limb lengthening in a multinational cohort of individuals with achondroplasia. METHODS:A cross-sectional, international online survey on limb lengthening experiences and perspectives was conducted in 11 languages across 16 countries from May until July 2024. RESULTS:Out of 467 responders (229 self-responders, 238 parents/caregivers), 90 (19.3 %) reported undergoing limb lengthening (LL) surgery. The mean age at first surgery was 10.5 years (SD 4.5). On average, respondents underwent 3.7 (SD 2.9) procedures, resulting in 14.5 cm (SD10.4) added and final adult height of 137.1 cm in females and 142.1 cm in males. Significant improvements were described in activities such as car driving, bathing, brushing hair, and wiping after toileting for those who underwent both arm and leg lengthening (p ≤ 0.001). Among respondents, 23 % would recommend the procedure to others and 28 % would not recommend LL. Nearly half of respondents (49 %) was uncertain about recommending LL. CONCLUSIONS:This is the largest international survey on LL in achondroplasia with results highlighting some of the differences in perspectives and choices of the individual with achondroplasia and their families, providing real-world evidence of the outcomes of this intervention. While significant functional improvements were reported, a reduced percentage of respondents recommended LL intervention. The findings underscore the existence of a triad when considering limb lengthening in achondroplasia as individual choices and life experiences, socio-cultural environment and access to clinical options.

Introduction Fully-instrumented gait analysis (FGA) enables objective and scientific characterization of human motion parameters. It is unclear to what extent FGA is used in the care of patients with rare bone diseases (RBDs). Our purpose was to provide a scoping review to describe and categorize the spectrum of existing literature about FGA in patients with RBD, to report the key findings and the impact on the clinical management. Additionally, we aimed to explore the feasibility of establishing a minimum common standard for evaluating the quality of motion analysis studies. Methods Within the activities of ERN BOND (European Reference Network for Rare Bone Diseases), a systematic literature search was performed in the following databases: Ovid Medline, Cochrane Database of Systematic Reviews, CENTRAL Register of controlled trials, Embase, Global Health and Epistemonikos. Abstracts and full-text articles were screened by two independent reviewers. The PRISMA ScR protocol was followed, and quality assessment of all studies was done based on the 27-item Downs and Black Scale. Results The abstracts of 1053 studies were screened, and 64 full-text studies were assessed for eligibility and 24 studies could be included. We found reduced walking speed and step lengths being one of the most common features. Furthermore, characteristic patterns for several of the RBDs, as reduced ankle push-off power, increased lateral trunk lean and increased flexion pattern in the sagittal plane, are all contributing to an increased energy expenditure during gait. Several studies found a mismatch between static radiological findings and dynamic gait parameters. Conclusions Existing research indicates that FGA should be considered an important tool to better understand gait alterations and the effect of lower limb deformities on gait in these patients. Together with radiologic assessment FGA data might be used for clinical decision making and as outcome parameters in future observational and interventional studies.

Achondroplasia is one of the most prevalent forms of skeletal dysplasia. Lifelong follow-up by an experienced multidisciplinary team is required, particularly during the first 2 years. In 2021, international consensus recommendations and guiding principles were published by two groups. We undertook two exploratory surveys to investigate awareness of the recommendations for management of children with achondroplasia among healthcare professionals (HCPs) and parents. We also assessed how well clinical practice aligns with the recommendations. Awareness of guidance was high among HCP respondents but low among parent respondents. Clinical practice largely aligned with international guidance; however, there was not complete alignment with all recommendations with several rating “somewhat” or “not at all aligned”. For infants, these included referral to skeletal dysplasia centre or an HCP with expertise in achondroplasia after diagnosis, provision to parents of early information on positioning and handling, mandatory evaluation for cervicomedullary compression at each medical evaluation, sleep study within the first year of life, and adherence to national immunisation programmes. For children aged 2–5 years, these included annual audiology assessment, encouraging parents to keep children active and learn early healthier nutritional habits, consultation with a paediatric orthopaedic spine specialist if a kyphosis has not resolved within a year, consultation with a paediatric orthopaedic surgeon in the case of progressive genu varum, discussion of limb lengthening procedures, and regular dental assessments. Further research is needed to understand the reasons for deviation from recommendations. Efforts to increase alignment with recommendations could include disseminating to the wider group of specialties that care for people with achondroplasia and seeking alternative approaches to current organisation of care, such as hub-and-spoke models. Raising awareness of the guidance among parents could be achieved by adapting materials for a non-HCP audience, translation and sharing through patient advocacy groups.

Background:Although rare bone diseases (RBDs) present mobility challenges, there is little consolidated evidence on evaluated mobility measurement tools or how mobility impairments impact daily activities and quality of life (QoL). Objectives and design:This systematic literature review investigated: (1) the impacts of mobility impairment on daily activities/QoL; (2) the suitability/comprehensiveness of tools measuring mobility. Data sources and methods:MEDLINE/Embase databases (January 19, 2022) and Google (October 19, 2022) were searched for articles published between 2011 and 2022; conference proceedings from 2020 to 2021 were hand-searched. Included articles reported on how mobility impairments impact daily activities/QoL, or the use of tools for measuring mobility, in RBDs. A narrative analysis using descriptive statistics was conducted. Studies were assessed for risk of bias using The Alberta Heritage Foundation for Medical Research Quality Assessment Criteria and National Institute of Health Quality Assessment Tool for Case Series Studies. Results:Inclusion criteria were met by 113 articles, investigating 39 RBDs (sample sizes: N = 1-959). Mobility impairments, commonly joint function/gait disturbances, negatively impacted daily activities (n = 47 cohorts; frequently walking (27/47; 57.4%)) and QoL (n = 36 cohorts; commonly pain (30/36; 83.3%; Objective 1). There were 34 functional assessments, 22 questionnaires, and 5 technologies described. Only nine functional assessments/questionnaires were reported to have good validity/reliability/responsiveness for an RBD (not reported for technologies); none comprehensively captured daily living/QoL impacts of mobility impairment. The quality of studies was moderate, though many were case studies/series, which are at inherent risk of bias. Conclusion:Few tools comprehensively captured mobility impairments and associated impacts on daily activities/QoL. Consistent reporting of tools' validity/reliability/responsiveness would support clinicians in selecting methods for use across RBD populations. Used remotely, wearables could support understanding of real-world mobility challenges. Since searches were conducted, additional technologies (e.g., remote gait analysis) have been tested in RBDs, although validation is required. Protocol PROSPERO registration:CRD42022311513. Sponsored by Ipsen.

BackgroundCaring for individuals with a chronic disease imposes a substantial burden on parents, significantly impacting their quality of life. For parents of children with achondroplasia, caregiving has notable implications for coping mechanisms and overall wellbeing. This review summarizes findings on these parents’ coping strategies and quality of life.MethodsA narrative approach was employed to synthesize research on parental outcomes related to caring for a child with achondroplasia. The PRISMA chart flow was utilized to present the article screening strategy and results, following established guidelines for systematic reviews.ResultsThe review reveals a scarcity of studies examining the impact of caring for a child with achondroplasia on parental outcomes, with only two studies meeting the inclusion criteria. These studies suggest that having a child with achondroplasia significantly affects parental coping and quality of life, indicating substantial emotional and social implications. Additionally, no specific tools or measures to assess outcomes for these parents, highlighting a significant gap in research and resources.ConclusionThe parental experience of caring for a child with achondroplasia involves significant emotional and social challenges. Stressors from emotional distress, social isolation, altered family dynamics, and demanding healthcare interactions underscore the need for robust support systems. Addressing the research gaps requires developing and validating specific measures to assess the outcomes for parents of children with achondroplasia accurately. This will encourage further research and guide the development and evaluation of interventions to improve the coping and QoL of parents of children with achondroplasia.

Background: Achondroplasia is a rare genetic skeletal condition characterized by disproportionate short stature. There is limited evidence on postural control in adults with achondroplasia and how lower limb lengthening (intervention) interacts with body dynamics. This study investigated sway variability during quiet standing in adults with achondroplasia with natural growth (N) and with lower limb lengthening (LL). Methods: Sixteen adults performed bilateral/unilateral standing tasks. Linear (total excursion, amplitude, and ellipse area) and nonlinear (sample entropy and correlation dimension) center of pressure sway metrics were analyzed in the anteroposterior/mediolateral directions. Relationships between posture metrics, strength, and physical activity were explored. Between-groups statistics were calculated. Results: The LL group exhibited amplified linear sway, indicating larger postural deviations, and reduced sample entropy and correlation dimension, indicative of more rigid and repeated corrections. The N group exhibited more unpredictable and adaptive movement corrections. Numerous correlations emerged between strength and posture measures, with relationships altered by intervention. Conclusions: Adults with achondroplasia display distinct balance strategies influenced by intervention. The results indicate that LL is associated with altered variability and adaptability compared to natural development. Relationships with muscle strength spotlight a key role of muscle capacity in postural control modulation after growth alterations in this population.

A pre-meeting workshop on Long Bone Pathology in Children with Achondroplasia was held in Salzburg, Austria at the 11th International Conference on Children's Bone Health (ICCBH) 22-25 June 2024. There remains poor understanding and awareness amongst physicians managing achondroplasia of the underlying pathophysiology, radiology, natural history and orthopaedic procedures available for long bone deformities and restrictions. The structure of the workshop consisted of presentation of the results of a multinational patient survey on views of leg lengthening in achondroplasia, lectures, a debate and an interactive round table discussion. In total 150 attendees from 71 different cities and 31 countries were in attendance.

Background: Adults with achondroplasia face physical and psychosocial challenges that may impact their health-related quality of life and mental health. This exploratory cross-sectional study aimed to investigate relationships between health-related quality of life, mental health, and physical activity levels in adults with achondroplasia, focusing on potential gender differences. Methods: Sixteen adults with achondroplasia (10 women, 6 men; age 37.2 ± 13.5 years) completed the Short Form Health survey, the Brief Symptom Inventory, and the International Physical Activity questionnaire. Descriptive statistics, non-parametric group comparisons, correlational analyses, and linear regressions were conducted. Results: Moderate physical activity showed strong positive correlations with general health (rs = 0.79, 95% CI [0.50, 0.92]), vitality (rs = 0.60, 95% CI [0.15, 0.85]), and physical functioning (rs = 0.62, 95% CI [0.18, 0.86]), on SF-36. Women reported lower quality of life scores than men across most SF-36 dimensions. Significant gender difference was observed in vitality (r = 0.61) and pain (r = 0.55). Physically active participants presented better outcomes in general health (r = 0.63) and vitality (r = 0.55) compared to inactive participants. Conclusions: This study provides preliminary evidence suggesting potential benefits of moderate-intensity physical activity on health-related quality of life and mental health among adults with achondroplasia, with notable gender differences. While limited by sample size and study design, the findings highlight the need for larger, longitudinal studies to further explore the role of physical activity in enhancing well-being in this population.

BACKGROUND:Rare bone diseases (RBD) cause physical and sensory disability that affects quality of life. Mobility challenges are common for people with RBDs, and travelling to gait analysis labs can be very complex. Smartphone sensors could provide remote monitoring. RESEARCH QUESTION:This study aimed to search for and identify variables that can be used to discriminate between people with RBD and healthy people by using built-in smartphone sensors in a real-world setting. METHODS:In total, 18 participants (healthy: n=9; RBD: n=9), controlled by age and sex, were included in this cross-sectional study. A freely available App (Phyphox) was used to gather data from built-in smartphone sensors (accelerometer & gyroscope) at 60 Hz during a 15-min walk on a level surface without turns or stops. Temporal gait parameters like cadence, mean stride time and, coefficient variance (CoVSt) and nonlinear analyses, as the largest Lyapunov exponent (LLE) & sample entropy (SE) in the three accelerometer axes were used to distinguish between the groups and describe gait patterns. RESULTS:The LLE (p=0.04) and the SE of the z-axis (p=0.01), which are correlated with balance control during walking and regularity of the gait, are sufficiently sensitive to distinguish between RBD and controls. SIGNIFICANCE:The use of smartphone sensors to monitor gait in people with RBD allows for the identification of subtle changes in gait patterns, which can be used to inform assessment and management strategies in larger cohorts.

Background. Achondroplasia is a genetic rare condition characterized by shorter stature and disproportionate upper and lower limb length. This study aimed to investigate the activation of lower limb agonist–antagonist knee muscles, Rectus femoris and Biceps femoris, in adults with achondroplasia during the squat, through surface electromyography (sEMG) signals. Methods. Eight participants, four women (45.8 ± 15.9 years old) and four men (39.8 ± 14.9 years old) executed three isometric maximum voluntary contractions (iMVC) applying Surface Electromyography for the Non-Invasive Assessment of Muscles (SENIAM) standard recommended tests for these muscles. The sEMG signals were recorded for 30 s while executing the squat movement, including the contraction and relaxation phases. Results. Rectus femoris presented higher activation in men compared to women with achondroplasia, while Biceps femoris was more activated in women. In both men and women, coactivation of these muscles occurred during the squat. Conclusion. In adults with achondroplasia, Rectus femoris and Biceps femoris muscles act synergistically while performing the squat, with coactivation.

Introduction Rare bone diseases (RBDs) are a heterogenous group of disorders that are poorly understood and challenging to treat. This creates a plethora of unmet needs for people with RBDs as well as their families and care providers, including diagnostic delays, limited access to expert care, and a lack of specialized treatments. The RBD Summit, which took place across 2 days in November 2021, was a virtual meeting of 65 RBD experts from clinical, academic, and patient communities as well as the pharmaceutical industry. The first meeting of its kind, the RBD Summit aimed to facilitate dialog and information exchange between delegates to advance knowledge and awareness of RBDs and improve patient outcomes. Methods Key challenges were discussed, and actions for overcoming them were proposed, including how obstacles to diagnosis can be overcome by (a) improving awareness of RBDs, (b) the implementation of a person-centered care pathway, and (c) how to narrow the communication gap between patients and healthcare professionals. Results Agreed actions were categorized as short term and long term, and priorities determined. Conclusion In this position paper, we provide an overview of key discussions from the RBD Summit, summarize the subsequent action plan, and discuss the next steps in this continued collaboration.