On Saturday February 18 the second Workshop on Rett syndrome will be held. The event is organized by the Teknon Foundation and the Catalan Association of Rett syndrome. The IDIBELL researcher Manel Esteller will take part in the seminar. The event will be followed on live via IDIBELL website and it will be possible to participate in Twitter with the tag # jornadarett.

Rett Syndrome is a neurological disorder that is generally found in girls. It is caused by a change in the regulating genes due to DNA methylation. It was first discovered in 1966 by an Austrian physician Andreas Rett, from which the name of this disorder is derived. Rett Syndrome is included in the so-called “rare diseases” to become one of the cruelest today, as the girls suffer total dependence for life. Diagnosis is based on clinical diagnostic criteria.

This is based upon information gathered during the first stages of the girl’s growth and the continued elaboration and evaluation of her medical history and her physical and neurological condition. The clinical diagnosis can also be confirmed by studying the genetics of the mutations in the gene MECP2.

Many of the girls with Rett Syndrome begin walking at the normal age; others, right from the beginning, are unable to walk. However, there is a period of regression or stagnation in which they lose all manual abilities and substitute these with constant and repetitious movements (stereotypes). Also, they may suffer scoliosis, epileptic fits, respiratory and digestive disorders, among others. Given the fact that their intellectual development is seriously retarded, many girls are mistakenly diagnosed as being autistic or having cerebral paralysis.

Within the framework of the “Foundation Workshops”, the Teknon Foundation, togetherwith Catalonian Rett Syndrome Association, seek to provide the professionals involved (pediatricians, primary care givers, child psychologists, neuropediatricians, speech therapists, special education professional, social workers, etc.) with the necessary information to perform early diagnosis and better treatment and carefor girls with Rett Syndrome by means of this 2nd Rett Syndrome Workshop: a multidisciplineapproach.