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Diagnositic Criteria for Rett Syndrome Revised - featured January 12, 2011

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HOUSTON -- (January 10, 2011) -- Since 1999, scientists have known that a mutation in a gene called MeCP2 (methyl-CpG-Binding protein 2) can cause Rett syndrome, a neurodevelopmental disorder.

Because not all people with mutations in that gene have Rett, an international consortium of researchers, including physicians from Baylor College of Medicine, created a revised criteria for diagnosing the disease.

The criteria by the RettSearch Consortium appear in the current edition of the Annals of Neurology.
Consistent criteria

"As we work to better understand the disease, new clinical research will be conducted and it is important to have a standard criteria for diagnosis that is applied consistently," said Dr. Jeffrey Neul, assistant professor and assistant medical director of the Blue Bird Circle Rett Center at BCM. "We wanted to create an easy-to-navigate guide for researchers and clinicians."

Rett syndrome is a disease of the nervous system characterized by developmental reversals in areas such as language and motor skills. An infant (usually a girl) seems to develop normally at first. Usually about the age of 1 year, she begins to regress, losing the ability to use her hands and to speak. Other problems involving balance and behavior develop as the disease progresses. While a mutation in the MECP2 gene is often the cause, that is not always the case. Some patients have a mutation in the gene but not the disease. Others may have symptoms of Rett syndrome without the gene mutation.
Regression in motor, language key

"A key part of the criteria we have released is that regression in motor and language functions must be present for a diagnosis of Rett syndrome," said Neul, who is also a faculty member of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. "We can’t make a diagnosis based solely on molecular findings. There is still a significant number of people who have the clinical features but do not have the specific genetic mutation and vice versa, so we cannot equate the two."

Read the Rest of this Story on the Baylor University Website

Tags: News of the Week Rett Syndrome Newsletter 14 January 2011