Quality of life, physical functioning, and psychosocial function among patients with achondroplasia<i>:</i>a targeted literature review

Constantinides, Constantinos; Landis, Sarah H.; Jarrett, Jerome P.; Quinn, Jennifer; Ireland, Penelope Jane

doi:10.1080/09638288.2021.1963853

Cited by 19 publications

(17 citation statements)

References 69 publications

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“…It has been well established that individuals with achondroplasia have a reduced HRQoL compared with the healthy population [ 3 , 19 – 21 ]. Several factors may contribute to this, depending on the age of the patient.…”

Section: Discussionmentioning

confidence: 99%

“…Studies have shown that short stature and skeletal dysplasia negatively impact on the ability of individuals to perform activities of daily living and on independence of adults [ 3 , 22 ]. Literature suggests that in individuals with achondroplasia, limitations in physical functioning and reduced HRQoL are at least partly due to disproportionate short stature [ 3 ]. In our study, 73% of the panelists agreed that a final height < 140 cm likely has an independent negative impact on physical HRQoL (Table 2 ).…”

Section: Discussionmentioning

confidence: 99%

“…Data showing long-term effects of vosoritide on HRQoL are not yet available. However, considering the reported negative effect of severe short stature on HRQoL [ 3 , 20 ], it is likely that an increase in final height may result in a better HRQoL. Increased height and longer arms may also reduce some of the limitations in mobility, activities of daily living, and independence that have been reported for adults with achondroplasia [ 3 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

“…In addition, several complications can arise throughout lifetime, including life-threatening foramen magnum stenosis in infants, symptomatic spinal stenosis, thoracolumbar kyphosis, upper airway obstruction, sleep disordered breathing, genu varum/tibial bowing, recurrent otitis media, conductive hearing loss, dental malocclusion, and cardiovascular disease [ 1 , 2 ]. The clinical features of achondroplasia can in turn lead to a developmental profile that differs from the norm, impaired self-care or ability to perform activities of daily living, reduced health-related quality of life (HRQoL), socioeconomic problems (e.g., reduced work participation), and early mortality [ 2 , 3 ]. The development of medical complications by age and their impact on different aspects of HRQoL are being investigated in natural history studies, such as the Lifetime Impact of Achondroplasia In Europe (LIAISE) study (clinicaltrials.gov NCT03449368) and the Achondroplasia Natural History Study (CLARITY) [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Savarirayan

Baratela

Butt

et al. 2022

Orphanet J Rare Dis

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Background Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia and data from phase 3 and phase 2 extension studies showed effects on growth and body proportions. However, there are currently no long-term data available on the direct impact on endpoints such as medical complications and health-related quality of life (HRQoL). This study explored the perceived impact of achondroplasia on medical complications, HRQoL, healthcare resource use and mortality, and potential modifying effects of vosoritide, based on published evidence and expert opinion. Structured expert opinion was obtained by an international modified Delphi study among 14 experts in managing achondroplasia performed on a virtual platform and consisting of an explorative phase followed by an anonymous individual rating round. Results Overall, the panelists expect that in individuals starting long-term treatment between 2 years of age and puberty, growth velocity increases observed in the clinical trials will be maintained until final height is reached (92% agreement) and will likely result in clinically meaningful improvements in upper-to-lower body segment ratio (85%). Earlier treatment initiation will likely result in a greater final height (100%) and more likely improve proportionality (92%) than later treatment. Although current data are limited, ≥ 75% of panelists find it conceivable that the earlier long-term treatment is started, the greater the probability of a positive effect on the lifetime incidence of symptomatic spinal stenosis, kyphosis, obstructive sleep apnea, and foramen magnum stenosis. These are among the most clinically important complications of achondroplasia because of their high impact on comorbidity, mortality, and/or HRQoL. A positive effect of vosoritide on the incidence of surgeries through lifetime was considered more likely with earlier long-term treatment (90%). Conclusions This explorative study, based on international expert opinion, provides further insight into the medical and functional impacts of achondroplasia and how these might be modified through long-term use of vosoritide. The results can be used to guide the direction and design of future research to validate the assumptions and to discuss potential treatment outcomes with disease modifying therapies with families and clinicians.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Savarirayan

Baratela

Butt

et al. 2022

Orphanet J Rare Dis

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“…S hort stature has an extraordinary impact on achondroplastic patients' daily life activities, causing physical limitations, problems with social integration and body image, and decreased self-esteem. 1 As a result, limb lengthening is increasingly being used to treat achondroplastic patients. These surgical techniques have undergone significant development in recent years.…”

mentioning

confidence: 99%

Two-stage Bone Lengthening With Reuse of a Single Intramedullary Telescopic Nail in Patients With Achondroplasia

Alonso-Hernández¹,

Galán-Olleros²,

Miranda-Gorozarri³

et al. 2022

Journal of Pediatric Orthopaedics

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Background: Patients with achondroplasia may benefit from limb-lengthening surgery with telescopic intramedullary nails (TIMNs). However, the 5-cm maximum length of the nails used in these patients in their original design may be insufficient. The aim of this research is to analyze the outcomes and complications after reusing the same TIMN for a second consecutive 5-cm lengthening in patients with achondroplasia. Methods: Retrospective study of 26 bones (16 femurs and 10 tibias) in 9 patients with achondroplasia treated for bilateral 2-stage sequential lengthening reusing the same TIMN. On completion of a first stage of 5 cm of elongation, the nail was unlocked, retracted, and re-locked; a second stage of 5 cm of distraction followed. Radiologic and clinical parameters were measured preoperatively and postoperatively, and complications were recorded. Results: The median age of patients at first surgery was 13.54 (12.9 to 16.3) years; 55% were males. The median preoperative height was 121 (117.5 to 127) cm, and the median healing index was 18.12 (14.5 to 32.8) and 26.96 (23.3 to 31.6) d/cm, while time to weight bearing was 185.5 (144.8 to 308.5) and 242.5 (208.5 to 293.8) days for femurs and tibias, respectively. Major complications included 3 cases of moderate ankle equinus, 2 cases of hardware failure (failure to relengthen), 2 premature consolidations, 1 common peroneal neurapraxia, and 2 valgus deformities. Femoral procedures had significantly fewer complications than tibial interventions (7 vs. 15, P=0.03), whereas patients who underwent lengthening of both the femur and tibia did not have significantly higher complication rates (14 vs. 8, P=0.6). Conclusions: This study analyzes lower-limb lengthening in a series of achondroplastic patients using TIMN with the novelty of nail reuse to relengthen the bone. The complication rate found is acceptable, among which, potential damage to the internal lengthening mechanism must be considered, though this complication can usually be easily resolved. Overall, nail reuse seems advisable in cases where bone elongation is indicated, and the size and design of the nail limits the extent of lengthening. Level of Evidence: Level III, retrospective comparative study, before and after intervention.

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Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

Moy¹,

Flynn²,

Henríquez³

et al. 2023

Qual Life Res

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Purpose Skeletal dysplasias are rare genetic disorders that are characterized by abnormal development of bone and cartilage. There are multiple medical and non-medical treatments for specific symptoms of skeletal dysplasias e.g. pain, as well as corrective surgical procedures to improve physical functioning. The aim of this paper was to develop an evidence-gap map of treatment options for skeletal dysplasias, and their impact on patient outcomes. Methods We conducted an evidence-gap map to identify the available evidence on the impact of treatment options on people with skeletal dysplasias on clinical outcomes (such as increase in height), and dimensions of health-related quality of life. A structured search strategy was applied to five databases. Two reviewers independently assessed articles for inclusion in two stages: titles and abstracts (stage 1), and full text of studies retained at stage 2. Results 58 studies fulfilled our inclusion criteria. The included studies covered 12 types of skeletal dysplasia that are non-lethal with severe limb deformities that could result in significant pain and numerous orthopaedic interventions. Most studies reported on the effect of surgical interventions (n = 40, 69%), followed by the effect of treatments on dimensions of health quality-of-life (n = 4, 6.8%) and psychosocial functioning (n = 8, 13.8%). Conclusion Most studies reported on clinical outcomes from surgery for people living with Achondroplasia. Consequently, there are gaps in the literature on the full range of treatment options (including no active treatment), outcomes and the lived experience of people living with other skeletal dysplasias. More research is warranted to examine the impact of treatments on health-related quality-of-life of people living with skeletal dysplasias, including their relatives to enable them to make preference- and valued based decisions about treatment.

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Quality of life, physical functioning, and psychosocial function among patients with achondroplasia:a targeted literature review

Cited by 19 publications

References 69 publications

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Two-stage Bone Lengthening With Reuse of a Single Intramedullary Telescopic Nail in Patients With Achondroplasia

Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

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