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Is rett syndrome an ASD?
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Rett syndrome was first given it’s name in 1966 by the Austrian physician Andreas Rett. Prior to this it was almost always misdiagnosed as autism. Though they both share many of the same characteristics, rett syndrome is far more severe. It includes toe-walking, sleep problems, teeth grinding and difficulty chewing; slowed growth; seizures; cognitive disabilities; and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing. As well as Apraxia, which is the inability to perform motor functions. Apraxia is the most disabling of the symptoms.
Unlike autism, which has no definitive cause as of yet, rett syndrome is an inherited disorder. It is caused when the MECP2 gene located on the child’s X chromosome is faulty. Most cases of this mutated gene is very sporadic, meaning it is not usually passed down from one generation to the next.
Rett syndrome is placed in the spectrum because while the child is in its toddler and preschool years they display enough behavioral characteristics to be placed within the autism spectrum disorder (ASD) umbrella. Although as the child progress the physical disabilities become more prevalent and behavioral aspects seem to diminish. With the new genectic discovers, however, there is great debate as to whether or not it should still be classified as part of the spectrum.
One reason it should not be part of the ASD is because the word “spectrum” indicates that the disorders on the spectrum are not necessarily distinct. Rett syndrome is distinct from that of others on the ASD, despite it sharing many symptoms during certain periods in the child’s progression. On the other hand it has been argued that because it has many of the same behavioral similarities as ASD’s and that ASD’s have a variety of etiologies that may include MECP2, and other not yet understood genetic patterns, it should be covered under the umbrella.
An advantage of classifying rett syndrome as an ASD is that children in some states would have more access to resources such as school and insurance coverage. Since some insurances do not cover genetic disorders.
In a study in 2007 led by Dr. Adrian Bird at Edinburgh University, the affects of rett syndrome were reversed in a mouse that was bred to have symptoms similar to that of the syndrome. Breathing returned to normal, mobility was restored and the seizures were abated. Though this is a very long way from being used on humans it is an advancement none the less. No matter what category rett syndrome is placed more research is needed. Perhaps someday this disability can be cured.
For More Info: www.rettsyndrome.org, www.rsrf.org, www.girlpower2cure.org
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