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Health-related Quality of Life in Patients with Achondroplasia after Global Limb-lengthening Surgery: A Case Series
Abstract
Background
Achondroplasia can impact daily activities and impair quality of life (QoL). Surgical lengthening of the upper and lower limbs has been reported to increase independence and improve QoL, but further evidence is needed to allow well-informed treatment decisions. Question/Purpose: (1) What height and limb-length improvements are achieved with global limb-lengthening surgery? (2) Does global limb-lengthening surgery improve patient QoL? (3) What major complications are observed with global limb lengthening?
Subjects and Methods
This retrospective case series reviewed patients with achondroplasia who underwent global (tibial, femoral, and humeral) elongation between 1986 and 2012 at our institution. Patients were followed for 3 years postoperatively to measure gains in height and limb length. Postelongation QoL was assessed with the 36-item short form health survey (SF-36) and compared with a historical nonsurgical control group.
Results
After global lengthening in 35 patients (210 segments), mean increases in limb length (right and left, respectively) were 15.0 and 15.3 cm for the tibia, 14.1 and 14.1 cm for the femur, and 10.8 and 10.9 cm for the humerus, gaining in average 29 cm from lengthening the lower extremities. When compared with a control group (short stature who did not receive limb-lengthening surgery [ n = 44]), our patients reported significantly higher mean scores across all eight SF-36 subscales ( P < 0.0001 for all subscales). Major complications were reported for 62.2% of patients, most commonly valgus axial deviation of the tibia (both tibias in 24.3%), early consolidation of the tibia (8.1%), and postelongation fracture of the femur (8.1%).
Conclusion
Global limb lengthening achieved significant improvements in patient-reported functional and emotional QoL compared with historical nonsurgical controls and an acceptable rate of major complications.
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Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.
The study aimed to explore how having achondroplasia affects older children and adolescents' day‐to‐day functioning and well‐being. Individual/focus group interviews were conducted with older children/adolescents between the ages of 9 to <18 years and diagnosed with achondroplasia to elicit key concepts. An adapted grounded theory approach informed the qualitative analysis of interview data. Thirty‐two children and adolescents completed interviews. Study results revealed five impact domains, including physical health, functioning, school impacts, emotional well‐being, and social well‐being. Frequently reported impacts on physical health included low stamina/tiring easily (81%) and back pain (69%). Key impacts in the functioning domain were difficulty with reaching objects or high places (84%) and walking long distances (75%). Emotional impacts included feeling different (63%), worried/scared (47%), and embarrassed/self‐conscious (47%). Impacts on social well‐being included difficulty with sports or physical play (81%) and others treating child as younger than their actual age (75%). The most frequent school impact was trouble participating in physical education (81%). A preliminary theoretical model depicting the experiences of older children/adolescents with achondroplasia was constructed based on the analysis. The preliminary theoretical model of older children and adolescents' experiences of living with achondroplasia may be used to inform future research and clinical practice.
Purpose
Achondroplasia (ACH) is the most common form of skeletal dysplasia, resulting in disproportionate short stature and medical complications. We review the literature on physical functioning, psychosocial function, and quality of life (QoL) in ACH individuals compared to average stature individuals or other short stature conditions. Studies that assess the association between these outcomes and height, limb length/lengthening surgery in ACH patients are also summarized.
Materials and methods
PubMed/MEDLINE and Embase were searched through April 2021. Study inclusion criteria were: (1) quantitative design; (2) study population consisting solely/mainly of ACH patients; (3) reports of physical functioning, psychosocial functioning, and/or QoL. Included studies were summarized separately for pediatric and adult populations.
Results
Of 1664 records identified, 23 primary studies (sample size 8–437 participants) were included. Multiple tools were used across studies, including the generic PedsQL and SF-36 and height-specific QoLISSY.
Conclusions
The literature demonstrates that ACH patients experience limitations in physical functioning and poorer QoL outcomes compared to average stature people across the life span. This appeared to be at least in part due to disproportionate short stature. Future research to better characterize QoL in ACH patients will assist clinicians to better evaluate the effectiveness of management programs including novel interventions.
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IMPLICATIONS FOR REHABILITATION
• Patients with achondroplasia experience limitations in physical functioning and poorer quality of life throughout their life course when compared to average statured individuals.
• Psychosocial issues are also heightened in adults with achondroplasia compared to average statured peers but are observed less frequently in children and adolescents with achondroplasia.
• The overall impact that limb lengthening has on physical functioning and QoL remains unclear, although there is some evidence that greater height or upper limb length may lead to an improvement in these parameters.
• Rehabilitation professionals should regularly assess physical functioning, psychosocial wellbeing, and quality of life in individuals with achondroplasia using condition-specific tools.
Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 ( FGFR3) . The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to delivery of care. To address these challenges the European Achondroplasia Forum (EAF), a network of senior clinicians and orthopaedic surgeons from Europe and the Middle East representative of the achondroplasia clinical community, came together with the overall aim of improving patient outcomes. The EAF developed a consensus on guiding principles of management of achondroplasia to provide a basis for developing optimal care in Europe. All members of the EAF were invited to submit suggestions for guiding principles of management, which were consolidated and then discussed during a meeting in December 2020. The group voted anonymously on the inclusion of each principle, with the requirement of a 75% majority at the first vote to pass the principle. A vote on the level of agreement was then held. A total of six guiding principles were developed, which cover management over the lifetime of a person with achondroplasia. The principles centre on the lifelong management of achondroplasia by an experienced multidisciplinary team to anticipate and manage complications, support independence, and improve quality of life. There is focus on timely referral to a physician experienced in the management of achondroplasia on suspicion of the condition, shared decision making, the goals of management, access to adaptive measures to enable those with achondroplasia to access their environment, and the importance of ongoing monitoring throughout adolescence and adulthood. All principles achieved the 75% majority required for acceptance at the first vote (range 91–100%) and a high level of agreement (range 8.5–9.6). The guiding principles of management for achondroplasia provide all healthcare professionals, patient advocacy groups and policy makers involved in the management of achondroplasia with overarching considerations when developing health systems to support the management of achondroplasia.
Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta‐analysis was conducted to better estimate worldwide achondroplasia birth prevalence. PubMed, Embase, Scielo, and Google Scholar were searched, complemented by manual searching, for peer‐reviewed articles published between 1950 and 2019. Eligible articles were identified by two independent researchers using predefined selection criteria. Birth prevalence estimates were extracted for analysis, and the quality of evidence was assessed. A meta‐analysis using a quality effects approach based on the inverse variance fixed effect model was conducted. The search identified 955 unique articles, of which 52 were eligible and included. Based on the meta‐analysis, the worldwide birth prevalence of achondroplasia was estimated to be 4.6 per 100,000. Substantial regional variation was observed with a considerably higher birth prevalence reported in North Africa and the Middle East compared to other regions, particularly Europe and the Americas. Higher birth prevalence was also reported in specialized care settings. Significant heterogeneity (Higgins I² of 84.3) was present and some indication of publication bias was detected, based on visual asymmetry of the Doi plot with a Furuya‐Kanamori index of 2.73. Analysis of pooled data from the current literature yields a worldwide achondroplasia birth prevalence of approximately 4.6 per 100,000, with considerable regional variation. Careful interpretation of these findings is advised as included studies are of broadly varying methodological quality.
PurposeThis study’s purpose was to develop a better understanding of the experiences of parents of children with achondroplasia and to provide qualitative evidence to support the development of a patient-reported outcome (PRO) measure of parent impacts.Methods
Concept elicitation (CE) individual/focus group interviews were conducted with parents of children aged 2 to < 12 years with achondroplasia in the United States and Spain. The qualitative analysis informed the PRO measure development. Cognitive debriefing (CD) interviews were conducted to ensure parent understanding and item relevance.ResultsThirty-six parents participated in individual/focus group CE interviews. The analysis identified parent impacts in four domains, including caretaking responsibilities, emotional well-being, family, and work, and results informed the development of the Achondroplasia Parent Experience Measure (APEM). Caretaking responsibilities included managing child’s medical care (92%), helping child with self-care (67%), advocating for child (64%), assisting child (56%), and observing/monitoring child (e.g., to ensure safety; 47%). Impacts on parents’ emotional well-being included worry about the future (75%), worry about child’s physical health (67%), safety concerns (50%), feeling stressed/overwhelmed (44%), and worry about child’s social relationships (42%). Impacts on family and work included family strain (56%), limiting/adapting family activities (42%), and missed work time (50%). CD interviews with an additional 16 parents of children with achondroplasia confirmed understanding and item relevance.Conclusion
The results improve our understanding of the experiences of parents of children with achondroplasia and provide qualitative evidence to support the content validity of the APEM. A psychometric study is needed to validate the measure.
Background
The primary objective of this study was to evaluate the quality of life following limb lengthening surgery in patients with achondroplasia. The complications and different lengthening techniques have and effects on mid-term results were also investigated.
Methods
We performed a retrospective, multicenter study by evaluating the records of patients with achondroplasia operated in our clinic between 1999 and 2014 for limb lengthening with a minimum follow-up of 3 years. Forty nine patients were underwent bilateral lower limb lengthening surgery and 21 of 49 patients underwent bilateral humerus lengthening surgery. Patients were evaluated by the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales to assess the health-related quality of life (HRQOL) of children. Twenty patients with achondroplasia who had no lengthening surgery history were also evaluated with the PedsQL score as the control group.
Results
The average age at the time of first surgery was 6.17 years. The average follow-up period was 100.2 months. The average age at the time of study 14.70 ± 2.44 (11–18) years. There were significant differences between the patients with humeral lengthening and patients who did not undergo humeral lengthening in all scores. Transient complications had minimal effects on scores. Although all scores in the operated group were higher than non-operated patients with achondroplasia, there were no significant differences.
Conclusion
Quality of life was significantly improved as a result of humerus lengthening surgery of patients with achondroplasia, despite minor complications compared with Lower limb lengthening surgery.
Level of Evidence
Level III, case control study.
Background:
Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents.
Objectives:
We aimed to investigate the quality of life of children with achondroplasia from child- and parent perspective as well as the parental quality of life.
Methods:
Forty-seven children with achondroplasia and 73 parents from a German patient organization participated. We assessed children's quality of life using the generic Peds QL 4.0™ as self-reports for children aged 8-14 and parent-reports for children aged 4-14 years. Parental quality of life we assessed using the short-form 8-questionnaire.
Results:
Children with achondroplasia showed significantly lower quality of life scores compared to a healthy reference population from both the child- and parent-report (p = ≤.01), except the child-report of the emotional domain (t (46) = - 1.73, p = .09). Parents reported significantly lower mental health in comparison with a German reference population (t (72) = 5.64, p ≤ .01) but no lower physical health (t (72) = .20, p = .85). While the parental quality of life was a significant predictor of parent-reported children's quality of life (F (6,66) = 2.80, p = .02), it was not for child-reported children's quality of life (F (6,66) = .92, p = .49).
Conclusions:
Achondroplasia is chronically debilitating. Thus special efforts are needed to address patients' and parent's quality of life needs. This special health condition may influence the daily life of the entire family because they have to adapt to the child's particular needs. Therefore, clinicians should not only focus on the child's quality of life but also those of the parents.
Patients with achondroplasia (ACH) require various medical interventions throughout the lifetime. Survey of health-related quality of life (HRQoL) in adult ACH patients is essential for the evaluation of treatment outcomes performed during childhood such as growth hormone administration and limb lengthening surgeries, but no study focused on the treatment strategy by analyzing HRQoL of ACH patients. The purpose of this study was to assess whether final height impacted on HRQoL and to evaluate what kinds of medical interventions were positively or negatively associated with HRQoL. We included 184 ACH patients (10–67 years old) who were registered in the patients’ associations or who had a medical history of the investigators’ institutions, and analyzed HRQoL by using Short Form-36 and patient demographics. Physical component summary (PCS) was significantly lower than the standard values in each age, especially in elderly populations, while mental component summary (MCS) was similar to the standard values. Role/social component summary was deteriorated only in elderly populations. The PCS was improved in the patients who had a height of 140 cm or taller (p < 0.001). The PCS and MCS were strongly associated with the past medical history of spine surgeries (p < 0.001 and p = 0.028, respectively). A treatment strategy would be planned to gain a final height of 140 cm or taller during childhood in combination with growth hormone administration and limb lengthening surgeries. Appropriate medical management for neurological complications of adult ACH patients is required to maintain physical and mental function.
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.
A retrospective study was performed in 18 patients with achondroplasia, who underwent bilateral humeral lengthening between 2001 and 2013, using monorail external fixators. The mean age was ten years (six to 15) and the mean follow-up was 40 months (12 to 104).
The mean disabilities of the arm, shoulder and hand (DASH) score fell from 32.3 (20 to 40) pre-operatively to 9.4 (6 to 14) post-operatively (p = 0.037). A mean lengthening of 60% (40% to 95%) was required to reach the goal of independent perineal hygiene. One patient developed early consolidation, and fractures occurred in the regenerate bone of four humeri in three patients. There were three transient radial nerve palsies.
Humeral lengthening increases the independence of people with achondroplasia and is not just a cosmetic procedure.
Cite this article: Bone Joint J 2015;97-B:1577–81.
Lengthening of the humerus is now an established technique. We compared the complications of humeral lengthening with those of femoral lengthening and investigated whether or not the callus formation in the humerus proceeds at a higher rate than that in the femur. A total of 24 humeral and 24 femoral lengthenings were performed on 12 patients with achondroplasia. We measured the pixel value ratio (PVR) of the lengthened area on radiographs and each radiograph was analysed for the shape, type and density of the callus. The quality of life (QOL) of the patients after humeral lengthening was compared with that prior to surgery. The complication rate per segment of humerus and femur was 0.87% and 1.37%, respectively. In the humerus the PVR was significantly higher than that of the femur. Lower limbs were associated with an increased incidence of concave, lateral and central callus shapes. Humeral lengthening had a lower complication rate than lower-limb lengthening, and QOL increased significantly after humeral lengthening. Callus formation in the humerus during the distraction period proceeded at a significantly higher rate than that in the femur.
These findings indicate that humeral lengthening has an important role in the management of patients with achondroplasia.
Use of the Ilizarov technique for limb lengthening in patients with achondroplasia is controversial, with a high risk of complications balancing cosmetic gains. Although several articles have described the complications of this procedure and satisfaction of patients after surgery, it remains unclear whether lengthening improves the quality of life (QOL) of these patients.
We asked whether bilateral lower limb lengthenings with deformity correction in patients with achondroplasia would improve QOL and investigated the correlation between complication rate and QOL.
We retrospectively reviewed 22 patients (average age, 12.7 years) diagnosed with achondroplasia who underwent bilateral lower limb lengthenings between 2002 and 2005. These patients were compared with 22 patients with achondroplasia for whom limb lengthening was not performed. The two groups were assessed using the American Academy of Orthopaedic Surgeons (AAOS) lower limb, SF-36, and Rosenberg self-esteem scores. Minimum followup was 4.5 years (range, 4.5-6.9 years).
Among the lengthening group, the average gain in length was 10.21 ± 2.39 cm for the femur and 9.13 ± 2.12 cm for the tibia. A total of 123 complications occurred in these 88 segments. The surgical group had higher Rosenberg self-esteem scores than the nonsurgical group although there were no differences in the AAOS and the SF-36 scores. The self-esteem scores decreased with the increase in the number of complications.
Our data suggest that despite frequent complications, bilateral lower limb lengthening increases patients' QOL. We believe lengthening is a reasonable option in selected patients.
Level IV, therapeutic study. See the Guidelines for Authors for a complete description of levels of evidence.
To examine the subjective health status of adults with short stature (ShSt) and compare with the general population (GP) and one well-known chronic disease, rheumatoid arthritis (RA). In addition, to explore the association between age, gender, height, educational level and different aspects of health status of adults with short stature.
A questionnaire was mailed to 72 subjects with short stature registered in the database of a Norwegian resource centre for rare disorders, response rate 61% (n = 44, age 16-61). Health status was assessed with SF-36 version 2. Comparison was done with age and gender matched samples from the general population in Norway (n = 264) and from subjects with RA (n = 88).
The ShSt sample reported statistically significant impaired health status in all SF-36 subscales compared with the GP sample, most in the physical functioning, Mean Difference (MD) 34 (95% Confidence Interval (CI) 25-44). The ShSt reported poorer health status in mental health, MD 11 (95% CI 4-18) and social functioning, MD 11 (95% CI 2-20) but better in role physical MD 13 (95% CI 1-25) than the RA sample. On the other subscales there were minor difference between the ShSt and the RA sample. Within the short stature group there was a significant association between age and all SF-36 physical subcales, height was significantly associated with physical functioning while level of education was significantly associated with mental health.
People with short stature reported impaired health status in all SF-36 subscales indicating that they have health problems that influence their daily living. Health status seems to decline with increasing age, and earlier than in the general population.
Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment for achondroplasia have underscored the need to better understand the natural history of this condition. This article provides a critical review and discussion of the natural history of achondroplasia based on current literature evidence and the perspectives of clinicians with extensive knowledge and practical experience in managing individuals with this diagnosis. This review draws evidence from recent and ongoing longitudinal natural history studies, supplemented with relevant cross-sectional studies where longitudinal research is lacking, to summarize the current knowledge on the nature, incidence, chronology and interrelationships of achondroplasia-related comorbidities across the lifespan. Where possible, data related to adults are presented separately from data specific to children and adolescents. Gaps in knowledge regarding clinical care are identified and areas for future research are recommended and discussed.
Background
Elongation in patients with achondroplasia provides better overall skeletal proportionality and significantly improves such individuals’ access to their perineal region to self-manage personal hygiene. This paper describes our surgical technique and outcomes for bilateral humeral lengthening in achondroplasia patients over 26 years.
Methods
Ours was a retrospective study of 55 patients with achondroplasia-related short stature, in whom bilateral humeral lengthening was performed from 1990 to 2016. We describe the surgical technique and analyze mean gain in humeral length, days using an external fixator, mean percentage of lengthening, external fixation index, type of callus, and complications. Pre- and postoperative radiographic measurements were obtained. Patients also were contacted by telephone and asked about their ability to perform peri-anal self-hygiene and about their overall satisfaction.
Results
In total, 110 humeri were lengthened (28 males and 27 females) with medium elongation of 9.5 cm on the right and 9.6 cm on the left, while averaging 220 days in an external fixator. We observed 14 minor complications. There was no significant association between pin position and type of callus, and elongation most often external and in the presence of a straight callus. Before elongation, 77.1% of patients reported difficulties with perineal hygiene and 85.4% could not put their hands in their pockets. Upon completion of lengthening, 100% could perform both tasks and 94.5% were very satisfied.
Conclusions
Bilateral humeral elongation yields significant improvements in patient autonomy, with a relatively low complication rate and very high patient satisfaction.
This paper describes the technical development as well as results obtained with the method of bone lengthening developed by the author and used over the past fifteen years for the treatment of short-statured conditions not susceptible to hormonal treatment.
Treaty of paediatric endocrinology
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