Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.

Autor: Galán-Olleros M; Neuro-Orthopaedic Unit, Orthopaedic Surgery and Traumatology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. mgalanolleros@gmail.com., González-Alguacil E; Neurology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Soto-Insuga V; Neurology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Vara-Arias MT; Physical Medicine and Rehabilitation Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Ortiz-Cabrera NV; Clinical Genetics Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Serrano JI; Neural and Cognitive Engineering Group, Center for Automation and Robotics, CAR CSIC-UPM, Arganda del Rey, Madrid, Spain., Egea-Gámez RM; Neuro-Orthopaedic Unit, Orthopaedic Surgery and Traumatology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., García-Peñas JJ; Neurology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Martínez-Caballero I; Neuro-Orthopaedic Unit, Orthopaedic Surgery and Traumatology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Jazyk: angličtina
Zdroj: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 May 25. Date of Electronic Publication: 2024 May 25.
DOI: 10.1007/s10803-024-06399-y
Abstrakt: Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in MECP2 gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and MECP2 variant subtypes.
Methods: Conducted as a cross-sectional retrospective observational study, the research encompassed 55 patients meeting clinical RTT criteria and holding MECP2 mutations. A review of clinical records was performed to gather demographic data, mutation subtypes, orthopedic conditions, management strategies, and assessments of function.
Results: Mean age of the participants was 10.22 ± 4.64 years (range, 2.9-19.41). Prevalence rates of orthopedic conditions were as follows: kyphoscoliosis 63.6%, hip displacement 14.6%, knee problems 40%, and foot deformities 75.5%. Significant relationship emerged between spinal (p < 0.01) and knee deformities (p < 0.01) with reduced motor function across various domains. Hip displacement significantly affected sitting ability (p = 0.002), and foot deformities impacted standing and walking capabilities (p = 0.049). Mutation clusters analysis revealed significant correlations with spinal (p = 0.022) and knee deformities (p = 0.002). Linear models highlighted the critical importance of mutation clusters, spine deformities, age, and hip management concerning functional variables.
Conclusions: In this study, foot deformities were the most frequent orthopedic manifestation, followed by spinal, knee, and hip deformities; and unveiled their relationships with functional status and groups of mutations in RTT patients.
Level of Evidence: Level IV, Case series.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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