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Direct linkMaría Galán-Olleros; Elena González-Alguacil; Víctor Soto-Insuga; María Teresa Vara-Arias; Nelmar Valentina Ortiz-Cabrera; J. Ignacio Serrano; Rosa M. Egea-Gámez; Juan José García-Peñas; Ignacio Martínez-Caballero; Salvadora Aleza Esteras; Carlota Aparicio Fernández de Gatta; Elvira Cañedo Villarroya; Daniel Clemente Garulo; Rocío Falcón Roca; Silvia Gutiérrez Priego; Blanca López Monedero; Paula Moreno Gutiérrez; Miriam Martín Mangas; Francisca Romero Andujar; Amalia Tamariz Martel – Journal of Autism and Developmental Disorders, 2025
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…
Descriptors: Genetic Disorders, Intellectual Disability, Physical Disabilities, Patients
Cazalets, Jean René; Bestaven, Emma; Doat, Emilie; Baudier, Marie Pierre; Gallot, Cécile; Amestoy, Anouck; Bouvard, Manuel; Guillaud, Etienne; Guillain, Isabelle; Grech, Emelyne; Van-gils, Julien; Fergelot, Patricia; Fraisse, Sonia; Taupiac, Emmanuelle; Arveiler, Benoit; Lacombe, Didier – Journal of Autism and Developmental Disorders, 2017
Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing…
Descriptors: Psychomotor Skills, Genetic Disorders, Children, Intellectual Disability
