Publicación Oficial de la Sociedad Ecuatoriana de Neurología, de la Liga Ecuatoriana Contra la Epilepsia y de la Sociedad Iberoamericana de Enfermedad Cerebrovascular

Rett syndrome

 

Síndrome de RETT: Abordaje desde la fisioterapia y terapia conductual. RETT syndrome: Approach from physiotherapy and behavioral therapy.

Purpose: Rett syndrome is considered a neurodevelopmental disorder with late regression, its main clinical manifestation is the progressive delay of already acquired motor and language skills, accompanied by rigidity and stereotyped hand movements. The aim of this case report was to identify the effects of a physiotherapeutic intervention combined with behavioral therapy in a patient with Rett syndrome.

Case presentation: We present the case of a 10-year-old girl with a medical diagnosis of Rett syndrome, stage III, or also called stabilization or pseudo-stationary stage. Physiotherapy and behavioral therapy were applied 3 times a week, with 45-minute sessions for a period of 12 months of treatment.

Results: Changes were achieved in gross motor function, balance reactions, straightening, in the ability to avoid obstacles and follow instructions; these skills were preserved for 6 weeks (at the end of treatment), and again, the regression of psychomotor functions is evidenced, which may be due to the characteristics of the syndrome.

Conclusion: the results obtained suggest that the combination of physiotherapy with behavioral therapy generates positive changes in gross motor function and behavior in girls with Rett syndrome.

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Síndrome de Rett Revisión de la literatura y presentación de seis casos en el Hospital Pediátrico Dr. Roberto Gilbert E.

Rett syndrome is one of the most common causes of mental retardation in females. It is an X linked dominant inherited disorder characterized by regression of language and motor milestones, acquired microcephaly, severe mental retardation and loss of purposeful use of hands. Its hallmark is a repetitive “hand-washing” movement. In the majority of cases, defects on genes MECP2 and CDKL5 have been identified. On the following report we present our first experience involving Rett Syndrome patients, analyzing their main clinical and electroencephalographic features, progression of disease and its treatment. We also make an update of genetics and treatment options. We believe that this study will provide the necessary tools to make an early diagnosis in our environment, reach the most accurate treatment and the appropriate genetic counseling for the families.

 

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