Rett Syndrome

Introduction

Rett syndrome is a genetic disease resulting in a severe disorder of the central nervous system development. The disease is named after the Austrian neurologist Adreas Rett (1924-1997), who made the first description in 1966. But it's a 1983 article that caught the attention of psychiatrists and neurologists on this serious condition, which is wrongly equated with autism.

Discussion

Rett Syndrome is a neurological disorder of genetic basis. It was discovered in 1966 by Dr. Andreas Rett in Vienna, Austria, described 22 girls in a German medical journal, but this publication did not receive the expected recognition and most physicians were not aware of the disease because of the relatively small circulation of this article (Adams, 15064). In late 1983 Dr. Bengt Hagberg of Sweden together with colleagues from France and Portugal published in English, in a widely circulated journal, a review of Rett syndrome that included 35 cases. The following year, at a conference held in Vienna, clinical documents were provided and new biochemical, physiological and genetic factors. In January 1985 Dr. Rett visited the institute John F. Kennedy for disabled children in Baltimore, Maryland, where Dr. Hugo Moser organized the first meeting in the United States. The International Rett Syndrome Rett got Dr Consideration to 42 girls who had been diagnosed as potential cases of Rett syndrome (Chahrour, 422). This meeting was an increased awareness of the syndrome and its manifest forms of the United States. The greater familiarity with the syndrome has led to better diagnosis. While Rett was the first to discover the syndrome, the disease was detected independently in other parts of the world. Interest in the syndrome and its knowledge are growing rapidly. The medical literature now contains reports of many ethnic groups around the world. Studies to date have found that the prevalence of Rett syndrome is 1:12,000 to 1:15,000 live female births.

Most individuals suffer from seizures, constipation and gastro-esophageal reflux, gall bladder problems and disrupted sleep patterns which can start as early as 1 and 2 months of age. Eighty percent of individuals have scoliosis which can become so severe that surgery is needed. Many can't feed themselves and require a feeding tube since it can be very difficult to swallow and sometime the capability to chew food correctly is never develop. Even though the individual might have a good appetite because of the syndrome it is hard to maintain a healthy weight (Budden, 71).

Rett syndrome symptoms can be view in four different stages. Early onset Phase which development stop it can be so minimal that parent won't even notice at the beginning. Rapid Destructive Phase losing abilities at a fast paced speech is usually lost and stereotypic hand movement and breathing problems start happening. Plateau Phase deterioration slow down and certain problems can improve or decrease. Movement problems and seizures occur and most indivual can spend their life in this stage. Last stage is Late Motor Deterioration phase in this stage individual can become rigid and loose muscle tone in worst ...