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. 2022 Dec 2;9(12):1895.
doi: 10.3390/children9121895.

Musculoskeletal and Gait Characteristics in Patients with Stickler Syndrome: A Cross-Sectional Study

Juan José Fernández-Pérez  1 , Paloma Mascaraque-Ruiz  2 , Carlos Martín-Gómez  2   3 , Ignacio Martínez-Caballero  4 , Teresa Otón  5 , Loreto Carmona  5 , Sergio Lerma-Lara  2
Affiliations

Musculoskeletal and Gait Characteristics in Patients with Stickler Syndrome: A Cross-Sectional Study

Juan José Fernández-Pérez et al. Children (Basel). .

Abstract

Background: Stickler syndrome (SS) is a connective tissue disorder of fibrillary collagen with very variable clinical manifestations, including premature osteoarthritis and osteopenia. This musculoskeletal alteration may affect gait maturity or produce strength difficulties.

Objective: Our aim was to describe the musculoskeletal characteristics, bone stiffness, gait kinematics, and kinetics of SS patients.

Methods: This is a cross-sectional study of children and youngsters with SS recruited by telephone calls through the Spanish SS Association. All participants underwent an analysis of musculoskeletal characteristics, including a 3D gait analysis.

Results: The sample included 26 SS patients, mainly boys (65.4%) with a median age of 11 (IQR 5-14). The manual muscle testing was normal in 88.5% of patients. The median distance covered in the 6-min walking test was 560.1 ± 113.4 m. Bone stiffness index scores were 70.9 ± 19.7 for children under 10 years and 88.3 ± 17.5 for children older than 10 years. The gait indicators GPS and GDI were: 7.4 ± 1.9 and 95.3 ± 9.7, respectively, for the left side and 6.8 ± 2.0 and 97.7 ± 9.5 for the right side, respectively.

Conclusions: In our series of patients with SS, we found muscle-articular involvement does not have a high impact on strength or gait problems. More work is needed to understand the effect of SS on the musculoskeletal system.

Keywords: 3D gait analysis; Stickler syndrome; collagenopathy; quantitative ultrasound stiffness index.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Kinematic 3D gait analysis of patients with SS compared with healthy children and adolescents. Abbreviations: Dors = dorsiflexion, SS = Stickler syndrome.
Figure 2
Figure 2
Kinetic analysis of patients with SS compared with healthy children and adolescents. Abbreviations: SS = Stickler syndrome.
See this image and copyright information in PMC

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