Rett Syndrome is a genetic condition seen mainly in girls. It is characterized by early normal development followed by regression. Some of the major areas of difficulty in this condition are brain development, social skills, language, and purposeful use of hands. Here are a few interesting facts about this disease.
Rett syndrome was first written about by Andrew Rett in 1965, but it was recognized as a condition only in 1983.
Andrew Rett in 1965, noticed that some of his patients had similar symptoms and recorded this. However, at that time no one paid attention to this condition. Later, in 1983 Bengt Hagbert also started talking about this syndrome, and when he came across the work of Andrew Rett, he named it Rett syndrome.
Although Rett Syndrome is a genetic disorder, less than 1 percent of Rett syndrome is inherited.
Rett syndrome is caused by a gene mutation. However, it has been seen that Rett syndrome is rarely inherited. Usually, it is caused by a spontaneous gene mutation.
Boys with Rett syndrome usually do not survive.
Boys have XY genes, and girls have XX genes. The Rett syndrome mutation occurs in the X gene. This mutation prevents the production of some important proteins. Since girls have two x genes, even if one gene has a mutation, the other is normal, and the second normal X gene ensures that some amount of the protein is produced in the body, and this helps the girls to survive. Boys do not have the benefit of this second X gene, and therefore die soon after birth.
Rett syndrome can vary in severity from person to person.
In the body of a girl with Rett syndrome, some cells have the defective X gene active, and in the others the normal X gene is active. The severity of the disease depends on the percentage of cells that have a normal X gene. If a higher percentage of cells have the defective X gene, the disease will be more severe, and the symptoms will occur earlier.
75% of girls affected by Retts experience seizure activity
Many children with Retts experience seizure activity. This is usually seen in the third stage of Rett, between 2 and 10 years of age. Medical monitoring and regular seizure medication is very important to prevent further complications.
Women with Rett syndrome live up to 40 and 50 years of age
The exact life expectancy of Rett syndrome has not yet been researched, however there are women with Retts in their 40s and 50s. Good medical support and prevention of complications can help to prolong the life of people with Retts.
Discovering the exact cause of Rett syndrome will possibly lead to the development of a cure in the future.
Although the main gene causing Rett syndrome has been identified, its exact mechanism is not known. Further research in this area will help to develop a cure for Rett syndrome.
For more interesting facts about Rett syndrome, continue reading right here at at Bright Hub!
April Scruggs, Rett Syndrome: Characteristics, Causes, and Treatment , Available here
National Institute of Neurological Disorders and Stroke, Novemeber 2009, Rett Syndrome Fact Sheet, Available here
This post is part of the series: A Guide to Rett Syndrome
In this guide to Rett syndrome, Bright Hub has compiled a series of articles detailing the symptoms and causes of Rett’s syndrome, along with strategies for adults and children living with it.