What is Rett Syndrome?

What is Rett Syndrome?
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Similarities between Autism and Rett:

Before discussing the differences it’s worth taking a look at some of the similarities between autism and Rett syndrome. Babies with both autism and Rett syndrome appear normal, and develop normally in the first few months of life. Slowly, a regression of social and language skills are seen in both conditions. The similarity between both at this stage often causes confusion. However, as the child grows, these two conditions progress in different ways. Both autism and Rett cause deficits in language, communication and social skills. Stereotypical hand movements are seen in both conditions.

Genetic Cause:

Rett syndrome is caused by a specific genetic defect in an X linked gene. In spite of extensive research, autism has not yet been attributed to any specific genetic defect, although that could change as genetic risk factors are discovered. The diagnosis of Rett syndrome can be confirmed with genetic testing.

Gender:

Another way that Rett syndrome is different from autism is that it is seen predominantly in girls, and autism is seen predominantly in boys. Thus, medical practitioners recommend that when a girl with autism is diagnosed, she should be monitored for the first few years of life to ensure that it is not Rett.

Motor Skills:

Children with autism have stereotypical movements, however children with Rett have severe movement disorders. As they grow older severe apraxia makes it difficult for a person with Rett to perform self-care tasks, or even walk. In the later stages, the person with Rett may be confined to a wheelchair and may be fully dependent on others for their self-care tasks. In contrast, people with autism retain their motor skills and are usually independent in their self-care tasks, and can walk independently.

Mental Retardation:

Severe mental retardation sets in during the later stages of rett syndrome. However, autism is not always accompanied by mental retardation. People with autism may also show extraordinary abilities in some areas.

Disease Progression:

The disease progression of Rett syndrome is very different from autism. While people with autism initially show regression in language and social skills they do not tend to lose skills. People with Rett syndrome continually show regression, as the disease progresses through the four stages.

Social Skills:

People with autism have marked deficits in the area of language and social skills. However, this is one area in Rett where there is an initial regression followed by slow improvement in social skills. As a person with Rett grows older, they appear to be able to engage socially and can be taught to communicate through eye contact.

Seizures:

Early severe seizures are a characteristic feature of Rett syndrome. Autism is not usually characterized by seizures. Thus, in the first few years of life if a girl has autistic features with seizures, she should be observed carefully for features of Rett syndrome.

Hope this article on “How is Rett syndrome different from Autism” was useful for you. Here are some more resources on Rett syndrome.

References:

Anderson, D. J. (2008). The diagnosis of autism in a female: could it be Rett syndrome? European Journal of Pediatrics , 661- 669.

Parker, K. L. (2008). Treatments for autism. Treatments for autism . Evansville.

Volkmar, F. R. (2007). Autism and Pervasive Developmental Disorders. Cambridge: Cambridge University Press.

This post is part of the series: A Guide to Rett Syndrome

In this guide to Rett syndrome, Bright Hub has compiled a series of articles detailing the symptoms and causes of Rett’s syndrome, along with strategies for adults and children living with it.

  1. 7 Interesting Facts about Rett Syndrome
  2. What is Rett Syndrome?
  3. Helping Children with Rett Syndrome
  4. Occupational Therapy Interventions for Rett Syndrome
  5. What is the Prognosis for People with Rett Syndrome?