Monday, June 21, 2010

Rett Syndrome

Like Childhood Disintegrative Disorder, Rett Syndrome also appears after a period of time where childhood development appears normal; slowly degenerating certain skills and learned techniques. Unlike Childhood Disintegrative Disorder though, Rett Syndrome is most commonly seen with young girls and rarely with boys (International Rett Syndrome Foundation [IRSF], 2008).

In addition, Rett Syndrome also more severely impairs physical motor movements (with hands, arms, etc) than Childhood Disintegrative Disorder does and may also include bizarre breathing patterns and an increased risk for seizures (IRSF, 2008).

Unlike some of the other disorders in the Autistic Spectrum, Rett Syndrome can be more easily diagosed and recognized. According to the International Rett Syndrome Foundation (2008), Rett syndrome is caused by a genetic mutation of the X chromosome on a gene known as MECP2. Thus, Rett Syndrome can be determined by a blood test (confirming the genetic mutation) and if the individual fits the diagnostic criteria of autism-like symptoms.

Finally, it is important to note that since this disorder results from a genetic mutation, depending on the severity of the mutation of the MECP2 gene, the severity of symptoms can greatly differ between individuals with the disorder (IRSF, 2008). For instance, two girls (both with Rett Syndrome) born from the same mother could have varying degrees in the severity of their individual symptoms.

No comments:

Post a Comment