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Autism Spectrum Disorders

Rett’s Disorder

Rett’s disorder was described in 1966 by Andrea Rett, an Austrian paediatrician. Rett’s disorder is a neurodevelopmental disorder of your brain’s grey matter. It has been argued to actually be a neurodegenerative disorder of the brain, as ones neurons and phenotypes can be fully restored. As well, neurodevelopmental disorders also don’t show in peoples’ physical features generally whereas Rett’s disorder does. Rett’s syndrome will most likely be changed to a neurodegenerative disorder in the upcoming DSM-V. It is a disorder that almost solely affects women.

Signs

The physical signs of Rett’s disorder includes the slow growth rate of the individual’s head, as well as, the individual having small feet and hands. Another physical sign is the individual putting their hands in their mouth or constantly wringing them. Individuals with Rett’s disorder are also likely to have gastrointestinal disorders and be without verbal skills. Eight out of ten will be prone to seizures, half will not be ambulatory (not able to move around) and many have scoliosis. Rett’s disorder can be confused with autism, Angelman syndrome, and/or cerebral palsy.

Other signs of Rett’s disorder include: lack of social reciprocity, inconsolable crying, sensory problems, lack of emotional reciprocity, avoidance of eye contact, screaming fits, loss of speech and use of nonverbal behaviors.

Causes

In the X chromosome, mutations in the MECP2 are what cause Rett’s disorder. It can also come from germline mutations. One out of ten people with Rett’s disorder have had mutations in their FOXG1 and CDKL5 genes. It used to be that Rett’s disorder was diagnosed through clinical observation, but now they just check to see if there are mutations in the MECP2. If there are, then it has to be Rett’s disorder. However, sometimes there seems to be no mutations to the MECP2 when an individual has Rett’s disorder. This suggests that there is a mutation occurring that, do to the tools being used, is not visible to researchers or doctors.

Management

As of right now, there is no cure for Rett’s disorder. It is believed that restoring function to the MECP2 gene will lead to a cure.

This is tricky because the chromosome on which the MECP2 is located is very sensitive. If you add MECP2 to the wrong spot, the chromosome will be destroyed. Currently there are two types of research aimed at curing Rett’s disorder. The first has to do with using an insulin-like substance that has been shown to somewhat reverse MECP2 in mice. The other is a therapeutic treatment that helps reduce spinal fluid levels and uses an antagonist for the increased NMDA receptors generally found in people with Rett’s disorder.

Other ways of treating Rett’s disorder are through sleeping pills, surveillance of scoliosis, modifying social medications, use of anti-psychotics, use of selective serotonin reuptake inhibitors, beta-blockers, parental counselling and management of gastrointestinal and nutritional issues.

Therapies are another common way of treating Rett’s disorder. They include occupational therapy (improve or maintain the functional capabilities of the individual with Rett’s disorder), physical therapy and speech therapy.

Prognosis

As mentioned earlier, females are generally the only ones who have Rett’s disorder. This is because the males born with it usually die within the first 2 years. So, there is a very high mortality rate. A woman with Rett’s disorder can live up to, and past 40 years of age. Actual causes of death include: seizures, gastric perforation, spontaneous brainstem dysfunction, cardiac arrest and cardiac conduction abnormalities.

For an individual with Rett’s disorder, there are certain areas of life that professionals focus on in order to help ensure that the individual leads a longer, happier life. These areas include: self-care, productivity, leisure and communication. The self-care piece generally centers around eating, grooming and dressing. The productivity piece focuses on the individuals level of functioning at school. The leisure piece makes sure that the individual partakes in leisure activities just as any other child would. And finally, the communication piece is about maintaining and improving the individual’s ability to communicate with others through speech.

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