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Exploring the Causes and Effects of Rett's Disorder

written by: Jacqueline Chinappi • edited by: Paul Arnold • updated: 9/2/2010

Rett's Disorder primarily affect females but sometimes males can be affected as well. The causes have been discovered to be defective genes. Effects of this disorder occur as a result of a decrease in development in the early stages of life.

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    How Does Someone Get Rett's Disorder?

    What are the causes and effects of Rett’s disorder? Normally most cases of Rett’s disorder are caused by an alteration in the methyl CpG binding protein 2, or MECP2 gene. Researchers have discovered that this gene actually manages other genes. The MECP2 gene contains information for brain development, which regulates which genes work and which do not.

    It has been shown though, that even when there is a change in the MECP2 gene the individual does not necessarily get Rett’s disorder (National Institute of Neurological Disorders and Stroke, 2009) as other possible causes of Rett’s include mutations in the CDKL5 and FOXG1 genes. Individuals who have these gene mutations are diagnosed with atypical or congenital Rett syndrome. More research needs to be done regarding other types of gene mutations which may be due to incomplete gene mutations or genes which have yet to be identified. (National Institute of Neurological Disorders and Stroke, 2009)

    While Rett’s disorder is caused by genetic faults, less than one percent of cases are based on hereditary factors (National Institute of Neurological Disorders and Stroke, 2009); the majority are the result of spontaneous genetic mutations in people with no family history of the disorder.

    Rett’s Disorder most often affects girls. Statistics show that one in every 10,000 to 15,000 female babies are affected by this disease.

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    What Happens:

    Rett's disorder occurs in children who have been developing normally for the first few months of life, but then there is a decrease or slowing down of development. There are four stages: The first stage occurs between the ages of 6 months and 18 months. Many times this stage may go unnoticed because the symptoms are very indistinguishable.

    Rett’s disorder is found on the autistic spectrum and the first signs resemble that of other autistic disorders. During the first stage the child may decrease eye contact, show signs of hand wringing or flapping, and show delays in gross motor skills appropriate for age such as walking or crawling. This stage can last anywhere from a few months to a year.

    The second stage occurs between the ages of one and four years old. Symptoms may include:

    • Decrease in hand movements
    • Decrease in verbal communication
    • Hand movements including wringing, tapping, or clapping
    • Irregular breathing such as sleep apnea or hyperventilation
    • Social interaction decrease
    • Head growth decreases

    Stage two lasts between a few weeks to a few months.

    Stage three lasts for a few years and occurs between the ages of two and ten years old. Symptoms may include:

    • Apraxia
    • Motor problems
    • Seizures
    • Progress in social development and communication
    • Attention span may also improve

    Stage four is considered the late motor deterioration stage and is the last stage of Rett’s disorder. This stage can last for decades. Symptoms include:

    • Decrease in mobility
    • Weakness in muscles
    • Scoliosis
    • Increase in muscle tone
    • Eye contact improves
    • Hand movements such as wringing and clapping decrease
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    Conclusion:

    In conclusion, the causes and effects of Rett’s disorder have been shown to affect mostly females but can also occur in males. While children with this disorder develop normally at first, they are soon diagnosed when a decrease in development occurs.

    References:

    National Institute of Neurological Disorders and Stroke. (2009). Rett Syndrome Fact Sheet. Retrieved from, http://www.ninds.nih.gov/disorders/rett/detail_rett.htm.

    International Rett Syndrome Foundation www.rettsyndrome.org