The Stages and Severity of Rett Syndrome
The four stages of the syndrome are generally referred to by number, or by the phrases early onset, rapid destructive, plateau, and late motor deterioration stages. Not all girls who have the syndrome develop it as early as 6-18 months, though this is sometimes when symptoms start to appear. Since a child can have normal development for a while and then develop symptoms, it is not always recognized right away or diagnosed accurately. Diagnosis may not always be easy because it is a relatively rare disorder, with only one case in ten to fifteen thousand live girl births. Although it mainly affects females, it does occur across races. The severity of the disorder and the pace of the regression of skills can vary from patient to patient. Current life expectancy for those with the disorder is typically in their 40s or even 50s.
The Effects of Rett Syndrome
Rett syndrome is a degenerative disease that frequently plateaus during adolescence and then exhibits a slow decline over the remaining lifetime. Upon birth, it may not even be noticed. Between ages one and four, however, a child will begin to lose motor skills and language abilities. They may have breathing difficulties and engage in repetitive hand movements. As the disease progresses, they often develop apraxia (i.e., the inability to perform particular purposive actions), experience seizures, and exhibit stunted growth. These deficits can last most of their lives. The last stage of their lives, which may last for about 30 years, is marked by reduced mobility, muscle weakness, and scoliosis. People with Rett syndrome are often confused with being autistic due to impaired communication skills, inappropriate eye contact, and emotional irritability.
Treatment revolves around the improvement of symptoms and providing support. A team of medical professionals is often needed including pediatricians, geneticists, and pediatric neurologists. Certain medications may be prescribed to help with muscle stiffness, breathing problems, and seizures. Additionally, people with Rett syndrome may need physical therapy, occupational therapy, and speech-language interventions.
There are many emotional and behavioral consequences of the syndrome. The individual will undoubtedly need to work with professionals in special education settings where behavioral therapy can be employed to help teach daily living skills. Opportunities for socialization and recreation should be maximized to enhance interpersonal functioning. It is unlikely, however, that someone with Rett syndrome will ever be able to live entirely independently. As with most developmental difficulties, the earlier the intervention the better the outcome.
Raising someone with Rett syndrome takes a significant toll on family members, who face tremendous stress and a roller coaster of emotions. They should be encouraged to seek psychotherapy, support groups, and education in self-care techniques to help them cope with such a difficult situation.
Sadly, there is no way to cure or reverse this illness, but research and funding have gone into finding better ways to treat the symptoms as well as looking into issues surrounding sound diagnosis methods. The kinds of specialists involved in diagnosis and ongoing treatment may important roles in helping families and communities understand and support patients with the syndrome.
The Role of the MECP2 Gene
In1999, researchers identified the gene responsible for Rett syndrome. A mutation in methyl CpG binding protein 2, otherwise known as MECP2, appears to cause almost all cases. The mutation causes abnormal expression of other genes and impairs brain development. The good news is that even though the syndrome is genetic in nature it does not appear to be hereditary; there is no increased occurrence from one generation to the next. The identification of the gene has improved scientific efforts to find a cure for the disorder. There is hope that with continued research and technological advances in gene therapy, a viable treatment may be found in the future.
Various organizations are also involved in research and funding issues surrounding the syndrome, including the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Mental Health. These places, along with children’s hospitals with an excellent reputation in neurology, can be good places to begin further research if you want to learn more about the disease.
Can Rett Syndrome Affect Males?
Until recently, boys were not thought to experience Rett syndrome. The MECP2 gene responsible for the occurrence of the disorder resides on the X chromosome. The mutation, due to its severity, often ends up destroying the chromosome. Because males only have one X chromosome, it almost always causes the death of boys at birth or in early infancy. However, there is now evidence that a small number of boys do survive to develop the disorder. It appears that some boys may live because the mutation is not as severe and it does not end up destroying the chromosome. That being said, the already rare disorder is even rarer in males.
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The National Institute of Neurological Disorders and Stroke has prepared a helpful fact sheet that answers many basic questions about the syndrome and also provides more details on the stages of the illness and some of the difficult losses patients can expect to face. This is another excellent place to start in learning more about both the diagnosis and treatment of Rett Syndrome.
ABA Programs Guide
Updated May 2020
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