Rett Syndrome

Rodriguez Rivera Sofia Lucila*

Received: June 05, 2018;   Published: June 11, 2018

DOI: 10.32474/OJNBD.2018.01.000116

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Abstract

Rett sindrome is a severe neuro developmental disorder that is a leading cause of mental retardation in females, characterized by an apparently normal psycho motor development through the first 6 months of life, followed by stagnation and growth regression in different are as like motor, language and social skills; patients often exhibitautistic behaviors in the early stages. Other symptoms include seizures, breathing problems when awake such as hyper ventilation, apnea, and swallowing air; ataxia and stereotypich and movements. It is caused by mutations in the X-linked gene encodingmethyl-CpG-binding protein 2 (MECP2) [1,2]. One case is presented with positive molecular study.

Keywords: Autism; Intellectual Disability; Rett Syndrome

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