Possible Rehabilitation in Girls and Women with Rett Syndrome

Czech version

Authors: N. Lipowská
Authors‘ workplace: Rehabilitační oddělení, Nemocnice s poliklinikou Karviná – Ráj, pracoviště Orlová primář MUDr. M. Lipowski
Published in: Rehabil. fyz. Lék., 24, 2017, No. 3, pp. 150-159.
Category: Original Papers

Overview

Rett syndrome is a neurological disease affecting mostly female sex and also one of the most frequent causes of mental retardation in girls and women. The affected child is born without any signs of physiological deviations, but roughly from the 6th to 18th month of age there is a stagnation of motor and verbal skills. Mutation of the MECP2 gene on chromosome X is responsible for development of the disease. Therapy is only symptomatic. The following text deals with clinical manifestations of the Rett syndrome in individual stages, possibilities of rehabilitation and presents the data from questionnaire survey on actual possibilities of rehabilitation care of girls and women with the Rett syndrome in the Czech Republic.

KEYWORDS:
Rett syndrome, Dr. Andreas Rett, mutation of the MECP2 gene, psychomotor retardation, hand stereotypies

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Article was published in

Rehabilitation and Physical Medicine

2017 Issue 3