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J Autism Dev Disord
May 2024
Neuro-Orthopaedic Unit, Orthopaedic Surgery and Traumatology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
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.
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