RETT Syndrome - Turbulence from the Autism specturum

The RETT Syndrome almost exclusively affects girls and after some genetical research, the anomaly has been isolated on the X chromozome. This was describe for the first time by a viennese neuro-pediatrician in 1966, Andreas Rett, as a cerebral autrophy with hyperammonemia at girls. It was not recognized utill later in 1983 by publishing some observed cases in Portugal, Sweden and France.

If you observe the girl not walking normally, if she doesn't express herself verbally, is she doesn't play almost at all, if she becomes absent, or doesn't remember something that up untill that moment she could do fine. Also, to draw more attention, if you will see weird movement of the hands, like they would like to draw attention to the fact that there is something wrong. If, after a period of normality, the child's evolution stops or regresses, if she loses motility handling, if the cranial perimeter slows down it's growth, if the manual practical skills shifts simultaneosly with the appearence of some stereotypical hand movements (curl, rotation, rubbing the mouth wih the hands, or the "washing hands" movement). If the expressive and receptive is affected with the existing losses, as well as a loss of interest twoards toys as well as a social plan loss. If problems appear in coordonating the trunk movements and in walking ( balanced walking, unsteady, rigid). If muscular hypotonia appears, or if scoliosis apears, cifoscoliosis, and later on a more pronounced spastical rigidity at the inferior members. Cognitive deterioration will gradually install, cognitive deficiency has different degrees of severity.in addition to these factors there will be some that are more visible like: irregulated breathing, hyperventilation, permanent failiure i controling the sphincter, the lack of an adequate method of chewing, protusionmof the tongue, an unusual EEG.

In 50% of the cases there will be seizures within the RETT Syndroke that will appear before the age of 8.

This affection has a genetical origin where the MECP2 genes of the X chromozome are afected.

Normal interventions are made by using speech, ocupational therapy, music therapy, psychotherapy. Medical treatemnt is good in fighting convulsion, agitation related with breathing turbulances, sleep related problems, osteoporosis. Recomended for eating disorders is a hyper-caloric diet rich in carbohydrates and fat.