Functional evolution of a case of atypical Rett syndrome in a Peruvian rehabilitation institute

Higginson Burgos G.E.; Méndez Campos M.A. · Acta Medica Peruana (2024) · DOI: 10.35663/amp.2024.414.2960

Resumen

The atypical Rett syndrome is a genetic disorder caused by mutations in the FOXG1 gene, and it is characterized by a subset of symptoms including phenotypes with psychomotor regression, growth deceleration, microcephaly, seizures, and stereotyped movements, amongst other, which generate multiple functional complications in children neurodevelopment. We report the functional progression of a case of atypical Rett syndrome at the Peruvian National Rehabilitation Institute. The identification of clinical-functional alterations in the neurodevelopment of atypical RTT is achieved with the use of quantitative tools such as the GMFM Test, GMFCS Test, and qualitative tools such as CIF, which facilitated the evaluation of the alterations in this patient since his admission.