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Rett Syndrome

Page history last edited by PBworks 16 years ago

Rett Syndrome

By Steve Palazzolo and Lindsay Burke

What is Rett Syndrome?

Rett Syndrome is a sex-linked, progressive neurological disorder found in women. It was discovered by Dr. Andreas Rett in 1996. He was a pediatrician in Austria, and noticed several girls with strange behavior within his practice. He then left Austria to seeking children with similar symptoms. In 1996 he published his discoveries in German medical journals, however it wasn't until 1983 when a mainstream article was written in English that Rett Syndrome was really put on the radar. Rett Syndrome was often misdiagnosed at cerebral palsy or autism. Rett syndrome strikes all ethnic groups and is diagnosed in 1 of every 10,000 to 23,000 female births.

Genetic Information

Rett Syndrome is caused by a mutation on the X-chromosome, therefore it seen almost exclusively in women. This sex-linked condition affects the methyl CpG-binding protein 2, otherwise known as MECP2. This gene makes a protein that is responsible for regulating other genes, and when there is a lack of this gene it’s thought that normal neuron development will not occur. Males with a mutated MEPC2 gene will usually die at birth because the Y chromosome cannot compensate for the mutation on the X chromosome. The severity of this disease depends on how active each X chromosome is in every cell. The more active the affected chromosome is, the more severe the disease will be. The mutated gene is found at the Xq28 site on the X chromosome. There are up to 200 different mutations found on the MECP2 gene, usually found 18 spots. Rett Syndrome is can be caused by several types of mutations such as missense, nonsense, insertion, deletion, and frameshift mutations. The frequency of each type of mutation can be seen below:

Symptoms and Signs

Decreased speech

Mental retardation

Severe lack of coordination

Small head size

Unusual hand movements

Seizures

Difficulty walking

Constipation

Irregular breathing

Scoliosis

Swallowing problems

Teeth grinding

Sleep disturbances

Poor circulation

Inability to make purposeful movements

At birth the baby is healthy, until infancy when abnormally slow head growth occurs. When the baby is one year old the development usually stops and patients will develop autistic features. Development then regresses and girls are not able to do things they were once able to do. Between ages 1-3 patients will develop unusual movements of the hands and some lose the ability to walk. By age 4-6 developmental detierioration stops but hey continue to have problems speaking, making purposeful movements and have mental retardation and bad eye contact.

Treatment Options

Currently, there is no cure or common treatment for Rett Syndrome. Many treatments and medications have been tried and showed some small signs of success including:

L-Dopa: A synthesized form of dopamine, initially improved conditions during the rapid deterioration stage (around age 4) but afterwards failed to improve patient's symptoms.

Naltrexone: A drug commonly used to treat prescription drug addicts, Naltrexone was a method tried on Rett Syndrome patients. While it did help control irregular breathing, seizures, and screaming spells, Naltrexone also caused patients to suffer a loss in appetite and experience extreme sedative effects. The drug also only works in extreme doses, and long-term effects of repeatedly taking high doses of Naltrexone are unknown.

Bromocriptine: A drug that has been found to boost brain function, particularly in the dopamine system. In Rett Syndrome patients, the drug initially improved communication, as well as causing reduced hand movements and decreased agitation. On the negative when drug treatments stopped, these symptoms reappeared and attempts to put the patient back on the drug produced no results.

Tyrosine and Tryptophan: Amino acids used together in treatment are often found to increase neurotransmitter levels. The treatment on Rett Syndrome patients showed no signs of improvement.

L-Carnitine: A synthesized version of the amino acid lysine, L-Carnitine is one of the more promising treatments attempted. Patients who took L-Carnitine showed subtle improvements including increased mobility, increased energy, increased alertness, less daytime sleeping, increased muscle mass, and decreases in constipation. In one case, a single patient displayed signs of better language skills, and more awareness.

Researchers at Baylor and John Hopkins Universities are continuing Rett Syndrome research attmepting to find better treatments and a possible cure for those afflicted with Rett Syndrome.

Resources for Further Information