Patient perspectives on humeral lengthening in achondroplasia: association between treatment timing and acceptance.
Patients who underwent humeral lengthening reported high satisfaction, while many untreated adults expressed regret about not having the procedure.
Where it sits
this study against the rest of the vosoritide corpusSummary and findings
This study evaluated patient perspectives on humeral lengthening in individuals with achondroplasia, focusing on functional impact and treatment timing. A total of 27 patients were surveyed, with 24 completing the questionnaire. The findings suggested that humeral lengthening may improve daily function and satisfaction among those who underwent the procedure.
Abstract
Purpose Achondroplasia is associated with upper-limb shortening, which may impair independence in daily activities. While lower-limb lengthening is commonly performed, humeral lengthening is often delayed. This study evaluated the functional impact of upper-limb shortening and patient perspectives regarding humeral lengthening. Methods A single-centre cross-sectional questionnaire study was conducted in 27 patients with achondroplasia divided into three groups according to treatment status. Outcomes included independence in daily activities, functional and aesthetic satisfaction, and willingness to undergo humeral lengthening. Results Twenty-four patients completed the survey (response rate: 89%). Patients who underwent humeral lengthening reported improved daily function and high satisfaction (4/5, 80%). Among untreated adults, 2 out of 5 (2/5, 40%) expressed regret, with persistent difficulties. In pediatric patients, satisfaction was generally low, whereas 9 out of 14 (9/14, 64%) expressed interest in future surgery. Conclusion Humeral lengthening was associated with improved function and satisfaction. Earlier integration may warrant consideration in future treatment protocols. Level of evidence IV.
Background
This paper addresses the functional impact of upper-limb shortening in achondroplasia and the perspectives of patients regarding humeral lengthening. Previous research has primarily focused on lower-limb lengthening, leaving a gap in understanding the implications of humeral lengthening. This study is significant as it provides insights into patient satisfaction and the potential need for earlier intervention.
Methods
A single-centre cross-sectional questionnaire study was conducted involving 27 patients with achondroplasia, divided into three groups based on treatment status. The primary outcomes measured included independence in daily activities, functional and aesthetic satisfaction, and willingness to undergo humeral lengthening. The response rate for the survey was 89%, with 24 patients completing it.
Results
Patients who underwent humeral lengthening reported an 80% satisfaction rate (4/5). Among untreated adults, 40% (2/5) expressed regret about their treatment decision, indicating persistent difficulties. In pediatric patients, satisfaction was generally low, but 64% (9/14) expressed interest in future surgery.
Interpretation
The findings suggest that humeral lengthening may lead to improved function and satisfaction, particularly among those who have undergone the procedure. However, the effect size may not be clinically significant given the small sample size and the varying satisfaction levels among different age groups. The study's limitations, including its cross-sectional design and potential biases, restrict the ability to draw definitive conclusions about long-term outcomes or generalizability.
Key findings
- 80% satisfaction reported by patients who underwent humeral lengthening.
- 2 out of 5 untreated adults (40%) expressed regret regarding their treatment decision.
- 9 out of 14 pediatric patients (64%) expressed interest in future surgery.
Limitations
- small n=27 participants
- cross-sectional design limits long-term outcome assessment
- single-centre study may affect generalizability