Rett's Syndrome Research Paper

Rett’s Syndrome

Kelsey Leroux

Child Development CYC 101

Lenore Simbulan

October 14, 2016

Rett’s Syndrome

Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s

Amir, Sutton and Veyver (2005) explore why Rett’s syndrome is not universally screened for, and if it would be reasonable to screen for it in an article called Newborn Screening and Prenatal diagnosis for Rett’s syndrome. They came to the conclusion that it would not be reasonable to screen for Rett’s Syndrome as 1. There is no current treatment that can halt, or reverse the effects of Rett’s syndrome. 2. The process to screen for the MECP2 mutation is very selective and is not always accurate. And finally 3. It is an expensive process because of the how selective it is, therefore would not be economically reasonable. Prenatal screening is recommended to women who have a family history of Rett’s Syndrome, but it is rare for the disorder to occur more than once in a

 Many girls also develop more of an interest in their surroundings. Their awareness, attention span and communication skills improve in this stage.

 Most girls stay in this stage for most of their lives. o 4) Late motor deterioration stage

 The prominent features of this stage is reduced mobility, a curvature of the spine (scoliosis), muscle weakness, rigidity spasticity and an increase in muscle tone. Girls previously able to walk may not be able to walk anymore.

 This stage may last several years, decades even.

• There are two types of diagnosis’ that can be determined through a clinical exam. o A) Typical/classic RTT which according to the Ontario Rett’s Syndrome Association (ORSA) is “characterized by a period of regression followed by recovery or stabilization” (2016). In order to be diagnosed with classic RTT, one must meet four required criteria, followed by genetic testing:

 Partial/complete loss of hand kills

 Partial or complete loss of verbal skills

 Motor abnormalities

 Stereotypical hand gestures (repetitive hand