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

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Title: Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.
Authors: Galán-Olleros, María, González-Alguacil, Elena, Soto-Insuga, Víctor, Vara-Arias, María Teresa, Ortiz-Cabrera, Nelmar Valentina, Serrano, J. Ignacio, Egea-Gámez, Rosa M., García-Peñas, Juan José, Martínez-Caballero, Ignacio, Esteras, Salvadora Aleza, Nurse, Liaison, de Gatta, Carlota Aparicio Fernández, Villarroya, Elvira Cañedo, Garulo, Daniel Clemente, Roca, Rocío Falcón, Priego, Silvia Gutiérrez, Monedero, Blanca López, Gutiérrez, Paula Moreno, Mangas, Miriam Martín, Andujar, Francisca Romero
Source: Journal of Autism & Developmental Disorders. Aug2025, Vol. 55 Issue 8, p2873-2883. 11p.
Subjects: Proteins, Cross-sectional method, Hip joint dislocation, Motor ability, Rett syndrome, Cluster analysis (Statistics), Scientific observation, Scoliosis, Kyphosis, Functional assessment, Kruskal-Wallis Test, Functional status, Foot abnormalities, Retrospective studies, Descriptive statistics, Analysis of covariance, Multivariate analysis, Genes, Orthopedics, Medical records, Acquisition of data, Genetic mutation, Data analysis software, Regression analysis, Spine diseases
Abstract: 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. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Autism & Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: 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 &#177; 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 &lt; 0.01) and knee deformities (p &lt; 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. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of Journal of Autism &amp; Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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