RETT syndrome

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Introduction

Rett syndrome was first described in 1966 by Andréas Rett (Rett, 1966). This syndrome accounts for 2 to 3% of profound intellectual disability cases and 10% of such cases in women. Despite these important figures, the pathophysiological mechanisms causing this condition are still mysterious.


Affected children, girls in the vast majority, have a normal in utero develoment and for the first 6 to 18 months after birth. Their development subsequently slows down, then stops. There is a rapid regression phase where acquired skills will be lost (langage, ability to walk). Intellectual disability becomes evident and the head circumference curve drops, revealing a sudden arrest of brain development (acquired microcephaly).

Additional problems are present in the patients (see the clinical criteria revised in 2010 by Neul et al.) such as : scoliosis, spasticity, breathing abnormalities that can be severe (apneas and hyperventilations), epilepsy, abnormal circulation of blood.


Detailed clinical informations can be obtained from specialized sites whose addresses are provided in the links section of our website.


We are providing more information in the other pages of this website in addition to details about our results and current research projects.

> Clinical criteriaRettcriteres_gb.html
> Atypical formsRettatypique_gb.html
> MECP2 and mutationsRettMecp2mutations_gb.html
> Function of MECP2RettMecp2fonction_gb.html
> CDKL5, FOXG1RettCdkl5Foxg1_gb.html
> Our results & projectsRettresultats_gb.html