Abstract

Background:Falls research among individuals with arthrogryposis multiplex congenita (AMC), a group of congenital conditions characterized by joint contractures in two or more body regions, is sparse. The primary objectives of this study were to estimate the prevalence of single, multiple, and injurious falls among adolescents and adults with AMC and identify factors associated with multiple and injurious falls.Methods:Individuals, aged 10–50 years, with a diagnosis of AMC completed questionnaires obtaining demographic and AMC-specific information, falls history (e.g., number, injurious/non-injurious), markers of bone health, orthopedic surgical history, and mobility aid use, as well as the Gillette Functional Assessment Questionnaire and the Saltin-Grimby Physical Activity Level Scale. Falls were defined as “any body part above the ankle coming to rest on the ground, floor, or a lower level”. Falling was defined as ≥ 1 fall, while multiple falls were defined as ≥ 2 falls in the past year.Differences in falling, multiple falls, and injurious falls rates between adolescents (10–17 years) and adults (aged 18–50 years) were evaluated. Using univariate binary logistic regression models, associations between participant characteristics and multiple falls, as well as injurious falls, were evaluated, while considering age as a covariate (p ≤ 0.050); odds ratios (ORs) and 95% confidence intervals (CIs) were calculated.Results:Adolescents (N = 28; median age = 14 years) and adults (N = 40; median age = 32 years) with AMC had similar falling, i.e., 89.3% versus 70.0%, and injurious fall rates, i.e., 32.1% versus 27.5%, respectively (p > 0.050).Adolescents with AMC, however, were more likely to report multiple falls in the past year, i.e., 89.3%, when compared to adults with AMC, i.e., 57.5% (p = 0.005). Beyond age, multiple falls were associated with a greater number of lower-limb surgeries [p = 0.036, OR (95%CI): 1.18 (1.01–1.39)], ability to transfer floor-to-stand with support [p = 0.002, OR (95%CI): 8.98 (2.30–35.06)], and increased mobility per the Gillette Functional Assessment Questionnaire [p = 0.004, OR (95%CI): 1.48 (1.13–1.92)]. Factors associated with a reduced odds of multiple falls were spinal involvement [p = 0.025, OR (95%CI): 0.23 (0.07–0.84)], history of spinal surgery [p = 0.018, OR (95%CI: 0.18 (0.04–0.74)], greater upper extremity involvement [OR (95%CI): 0.65 (0.44–0.95)], home assistive device use [p = 0.010, OR (95%CI): 0.15 (0.03–0.63)], and community wheelchair use [p = 0.006, OR (95%CI): 0.16 (0.04–0.59)]. None of the explored characteristics were associated with injurious falls in the past year (p > 0.050).Conclusion:Falls are exceedingly common among adolescents and adults with AMC; potential risk and protective factors for multiple falls are identified for future prospective falls research.

Highlights

  • Arthrogryposis Multiplex Congenita (AMC) is a group of congenital conditions characterized by joint contractures in two or more body regions [1], occurring in approximately 1 in 5,000 to 10,000 live births, without a sex-predilection [2]

  • Multiple falls were associated with a greater number of lowerlimb surgeries [p = 0.036, odds ratio (OR) (95%Confidence Interval (CI)): 1.18 (1.01-1.39)], ability to transfer floor-to-stand with support [p = 0.002, OR (95%CI): 8.98 (2.30-35.06)], and increased mobility per the Gillette Functional Assessment Questionnaire [p = 0.004, OR (95%CI): 1.48 (1.13-1.92)]

  • Factors associated with a reduced odds of multiple falls were spinal involvement [p = 0.025, OR (95%CI): 0.23 (0.07-0.84)], history of spinal surgery [p = 0.018, OR (95%CI: 0.18 (0.04-0.74)], greater upper extremity involvement [OR (95%CI): 0.65 (0.440.95)], home assistive device use [p = 0.010, OR (95%CI): 0.15 (0.03-0.63)], and community wheelchair use [p = 0.006, OR (95%CI): 0.16 (0.04-0.59)]

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Summary

Introduction

Arthrogryposis Multiplex Congenita (AMC) is a group of congenital conditions characterized by joint contractures in two or more body regions [1], occurring in approximately 1 in 5,000 to 10,000 live births, without a sex-predilection [2]. Given the heterogeneity of joint involvement with AMC [5], functional consequences, including energy expenditure requirements for activities-of-daily living, mobility limitations, and participation restrictions, are quite variable [1,6]. As lowerextremity misalignment has been shown to increase fall risk [11], individuals with AMC, and those with greater lower-extremity joint involvement, may be more apt to fall. Falls research among individuals with arthrogryposis multiplex congenita (AMC), a group of congenital conditions characterized by joint contractures in two or more body regions, is sparse. The primary objectives of this study were to estimate the prevalence of single, multiple, and injurious falls among adolescents and adults with AMC and identify factors associated with multiple and injurious falls

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