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What is Rett Syndrome?
Rett Syndrome is a genetic disorder caused by an alteration of one or more genes in the X Chromosome. MECP2, CDKL5, and the FOXg1 genes have all been discovered to be altered in most cases of Rett Syndrome. However, Rett Syndrome is still a clinical diagnoses based on observation of behavior and other classic characteristics commonly found in cases of Rett Syndrome. With that said, Rett Syndrome can be confirmed with a genetic blood test that screens for mutations, deletions or duplications of the three genes mentioned.
There are still a few rare cases of Rett Syndrome where no altered known genes can be identified.
Rett Syndrome is much more common in girls than boys because of the extra X Chromosome that girls carry. It’s not that girls get it more-so than boys, it’s just that they survive it longer because the extra X chromosome usually carries a healthy set of genes whereas a boy does not have this spare gene.
Boys often pass away from Rett Syndrome in the womb and the Mother will miscarry, never knowing why her child did not survive. However, when boys are born with Rett Syndrome, it is usually very severe and they will have many health problems until they usually pass away by age 3. There are a few cases of boys with Rett Syndrome where they live in their twenties and beyond with severe handicaps.
Girls with Rett Syndrome can live to be 3 years old on up to be 60 and beyond with assisted living. The reason for this is usually a direct result of the different types of Rett Syndrome that exist. In addition to Rett Syndrome itself, researchers have successfully identified over 200 different types of the disorder. Eight of which are common in most people with Rett Syndrome. The eight common classifications of Rett Syndrome are R106W, R133C, T158M, R168X, R255X, R270X, R294X, R306C. These number/letter combinations represent the genotype or gene type variation of the mutated gene that causes Rett Syndrome. Through clinical studies, R133c and R294x are less severe in general than the other 6 common types. This is not to say though, that any case of Rett Syndrome is necessarily less severe than another because the disease itself can often yield many surprising outcomes in all cases.
Common symptoms of Rett Syndrome would include, regression of all motor skills after 6 months to 24 months, hand flapping, high pitch continual screaming, unusual hand posture like hand wringing or contortion, loss of muscle function, loss of ability to eat, breathing disorders, walking with gait, never walking at all, walking after 18 months, inconsolable crying, loss of eye contact and engagement, loss of socializing, interest or obsession in certain objects, hitting their own head or other objects repeatedly, pale skin, wandering eyes up to six months, noticeable grey spots on the corners of the white part of the eyes, smaller head size, insatiable appetite yet difficult time gaining weight, short stature as they age, teeth and bone problems, heart disorders known as Long QT Syndrome, scoliosis and/or kyphosis, flat feet, outward bowed legs, and other symptoms not as common in many cases.
Not all symptoms are seen in all cases and not all symptoms appear at the same time. Physicians should not discount Rett Syndrome until the proper genetic testing is done. Rett Syndrome can also mimic many other disorders such as Autism, Cerebral Palsy, Angelman Syndrome, Brain Tumors, Lesch-Nyhan Syndrome common for boys, and many other disorders. It’s important for Doctors to understand that many of the common symptoms of Rett Syndrome are related to the disorder and caused by the altered gene, but at the same time it is also very important that Rett Syndrome not be blamed for everything wrong with the child to the point that their individual needs are not being met. Scoliosis is a perfect example. It should be treated as Scoliosis normally would be, yet recognized that Rett Syndrome caused it.
It is important to note that Rett Syndrome is not caused by brain damage nor vaccine injury. This is not to say that they are not sensitive to certain things like eggs in some vaccines, nor is it to say that they don’t have issues with brain development, but parents should NOT be concerned about blaming a vaccine for causing Rett Syndrome, nor should they worry about brain damage. Rett Syndrome is caused by a gene that went bad which regulates how the nerves and muscles operate. People with Rett Syndrome understand information very well, they just can’t always communicate it back very easily. If you would like to know what Rett Syndrome is really like, then put duct tape over your mouth and don’t move a muscle for an entire day except for your eyes. This is what Rett Syndrome is like for those affected by it the worst.
Currently there is no known cure for Rett Syndrome, but researchers are close. Since the cause of Rett Syndrome was first discovered in 1999 by Dr. Hulda Zoghbl, her post colleagues have successfully reversed the syndrome in mice models and discovered treatments that alleviate several of the symptoms of Rett Syndrome in these animal models. Rett Syndrome can be reversed because it is NOT a degenerate disease of the brain; it’s caused by a bad gene. To date, October, 2010, many of those discovered treatments are underway to clinical trials in real patients for an FDA approval process that could take up to a few more years to complete at best.
If you suspect that your child has Rett Syndrome, seek medical attention immediately by consulting with your child’s primary care physician. They will need to refer you to a genetic specialist or make the diagnosis themselves. Other specialists may be needed as well. Get a referral to a good orthopedic specialist, endocrinologist to test and monitor hormone levels, a neurologist, and a good special needs school that includes physical, occupational and speech therapy.
For more information about Rett Syndrome, please visit http://www.rettsyndrome.orgVN:F [1.7.9_1023]What is Rett Syndrome?