Rett Syndrome, a rare, non-inherited, genetic, neurodevelopmental disorder. It exclusively affects girls as young as six months. An Austrian doctor by the name of Andreas Rett originally described the disorder in a journal article in the year 1966. The disorder was not recognized as a disorder until the year 1983, when a Swedish researcher by the name of Dr. Bengt Hagberg published the disorder.
Rett Syndrome almost always affects girls; it is rarely seen in boys. The disease is a mutation of the X chromosome on a gene named methyl-CpG-binding protein 2 or MeCP2. Although MeCP2 is a genetic mutation, the defective gene is never inherited from the parents. The MeCP2 gene generates a multi-functional protein necessary in the development of the nervous system, especially the brain. Rett Syndrome affects the brains functions causing an impact on learning, speech, sensory sensations, mood, breathing, cardiac function, as well as chewing, swallowing and digestion. Female offspring have two X chromosomes; the child survives because the extra X chromosome she has is normal enough, whereas male offspring are born with one X chromosome. If a male offspring is diagnosed with this defective gene the results are usually fatal.
…show more content…
Rett Syndrome is generally misdiagnosed as Autism and/or Cerebral Palsy. Doctors will use a highly specific criteria guideline to diagnose Rett Syndrome; it includes all signs and symptoms. The criteria usually consist of the Diagnostic and Statistical Manual of Mental Disorders or DSM. The child will have to receive ongoing physical and neurological evaluations. She will have to see numerous physicians. The physicians will use three types of clinical criteria: main, supportive, and exclusion. Scientists have developed a genetic test to complement the clinical diagnosis, which involves searching for MeCP2 on the child X chromosome. DNA testing is usually recommended to confirm diagnoses of Rett