Rett syndrome a genetic developmental and neurological problem, which affects the manner in which the brain develops, subsequently resulting in a progressive inability of the affected people to use muscles for body and eye movements as well as speech. Literature reports that Rett Syndrome is a disorder that affects girls more often than it does to the boys. Most of the children who are affected by this infection appear to develop normally within their first five to six months of age, but after the sixth month, they lose some of the skills that they had possessed such as using their hands, communicating, walking, and crawling. As time wears on, such children experience increased problems using their muscles that regulate communication, coordination, and movement. It is also reported that Rett syndrome could also cause intellectual disabilities as well as seizures in the victims. The purpose of this paper is to report the historical background of Rett syndrome, its current rates of prevalence globally, and its treatment and diagnosis.
Doctor Andreas Rett, an Austrian pediatrician in Vienna, first discovered that two girls who had presented at his clinic for treatment did not have similar symptoms as the rest of the patients in 1954 (Kerr, 1986). He noted that the two children made similar repetitive hand-washing gestures, which caused him to compare their clinical as well as developmental histories out of curiosity. He noted that the two children had similar developmental and clinical histories. The doctor then checked with his nurses and discovered that six other girls who had visited the clinic exhibited similar behavior as the two girls. The doctor then concluded that the eight girls could then be suffering from the same problem. However, Rett was not satisfied with his observations, which is why he filmed all the girls and moved around Europe to discover other girls that appeared to have the same symptoms. In the meantime, in 1960, young female patients that showed similar symptoms as those of Dr. Rett attracted Dr. Bengt Hagberg, a physician in Sweden. Dr. Hagberg then ventured to collect records of such patients and preserved them away from the rest of the patients with an intention to return them after he would have had enough time to study them.
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Dr. Rett then published his results within several medical journals in Germany in 1966. However, it is reported that even while the medical journals were well known in that part of the globe, they were not the mainstream reading for the rest of the medical community across the world (Glaze et al., 2010). In fact, even after Dr. Rett had completed the publication of a description of the disorder in English by 1977, the problem remained in the backwaters of the concern of the medical community. It is acknowledged that the pre-internet world did not have the necessary electronic highways that are common within the 21 st century, which slowed the spread of information. Nevertheless, an article featured in the mainstream English language medical journal about Rett syndrome in 1983 (Glaze et al., 2010). Dr. Hagberg and his colleagues composed this later writing, and it raised the profile of the infection and put it on the radar for many investigators in the future. Therefore, the article by Dr. Hagberg and his colleagues was a major breakthrough in the communication of the details of the disorder to a wider audience, and the authors honored the pioneering efforts of Dr. Rett by naming it after him, Rett Sydrome (Kerr et al., 1986; Rettsyndrome.org, n.d).
Increased funding for research work allowed scientists and doctors across the world to continue chipping away the shell concerning the mysterious backgrounds of Rett syndrome. For example, a team of researchers from Houston’s Baylor University as well as California’s Standford University worked within their laboratories as well as clinics to discover the cause of the disorder (Amir et al., 1999). Their work bore significant fruits in 1999 when Ruthie Amir of the Baylor University made a discovery concerning the MECP2, a gene that causes Rett syndrome after it has been mutated. This finding of the gene located at Xq28 site within the X chromosome became a founding stone for the researchers in this field. Specifically, the discovery of the gene and its location indicated that the disorder was a sex-lined one, and it was associated with the X chromosome, which is why it is only found in girls (Amir et al., 1999).
Today, there have been significant other discoveries about the disorder. For instance, concerning the signs and symptoms of the infection, it is reported that a variation exists concerning the age at which the symptoms appear in the patients, but most of the victims of the disease start showing them after the sixth month of their lives (Mayo Clinic, n.d). It is further reported that the most common transformations often show up after the babies are between and year and one and half years (12-18 months) of age, and that they could be sudden or gradual in their progression. During such symptoms, as literature on the disease indicates, the children exhibit slowed growth, which is deduced from the fact that their brains do not grow normally and their heads are often small, a phenomenon which the doctors call microcephaly (Mayo Clinic, n.d). Such stunted growth becomes more manifest after the child grows older. It is also reported that the victims experience problems with hand movements, and they appear to rub their hand together or wring them.
It is reported additionally that the children also have problems with their lingual skills. Specifically, according to Mayo Clinic (n.d), between the first and fourth years of their development, their lingual and social skills begin to decline. Babies that develop the problem stop talking, and could have extreme social anxiety and on extreme occasions, they could stay away from or lose interest in their surroundings, toys, and other people. It is also reported that such children experience problems with the coordination of their muscles, which makes their movements such as crawling and walking awkward. Another symptom of Rett syndrome is that the victims experience troubles with their breathing. To this, it is reported that the victims of the disorder might have seizures and uncoordinated breathing, which could include first breathing, forceful exhalation of saliva or air as well as swallowing air. The children who develop the disorder also tend to become irritable and tense as they grow older during which they could scream or cry for long periods or they could have extended fits of laughter. Symptoms of the disorder do not often improve with time since the disorder is a lifelong condition. Usually, the symptoms worsen only gradually, or they do not change, which means that people with the disorder can rarely live independently.
Rett syndrome is marked by four stages of development. The first stage, occurring between the 6 th and 18 th months of development, is referred to as the onset stage and is a period during which symptoms and signs are subtle and could be overlooked easily. The children in this age bracket could exhibit reduced eye contact and begin to lose interest in toys. They could also experience delays in their crawling or walking (Mayo Clinic, n.d). The second stage, the rapid destruction stage, sets in between the first and fourth years of age and is marked by a loss of the ability of the children to skills they possessed previously. The third stage of the diseases is called the plateau stage, and it sets in between the second and tenth years of development, marked by seizures and further problems with movement. The last stage of the development of the disorder is called the late motor deterioration stage, and it sets in after the age of 10 years, marked by declined mobility, muscle weakness, scoliosis, and joint contractures (Mayo Clinic, n.d).
Literature on the epidemiology of the disease indicates that the disorder primarily afflicts females, and that it is one of the most prevalent genetic causes of extreme intellectual disabilities in this gender (Orpha.net, n.d). The prevalence of this disease is approximated to be at 1 girl in every 9000 girls who are under the age of 12 years while the prevalence within the whole population is approximated to be 1 person in every 30000 (Orpha.net, n.d). In the US alone, the current estimates of the prevalence of the disease indicate that afflicts in 1 in every 10000 to 15000 girls born while 1 out of every 10000 to 22000 females in the same country are likely to suffer from the disorder (National Institute of Health, n.d). Still in the US, literature in the prevalence of the infection indicates that the Texas Rett Syndrome Registry keeps the biggest registry of the potential causes and causes of the disorder based on tithe populations of individuals diagnosed with the disorder across the world (Kozinetz et al., 2013). This registry indicates that the most precise rate of prevalence of the infection globally is one female for every 22800 females aged between 2 years and 18 years across the world.
Literature reports that there are no identified risk factors and cure for Rett syndrome. However, treatment for this disorder is directed towards the provision of support as well as the symptoms (Rettsyndrome.org, n.d). The requirement for treatment and the accompanying support do not end as the children grow older because the symptoms do not improve with age. specific treatments recommended include regular medical care for the management of symptoms, medications, physical therapy, occupational therapy, speech and language therapy, nutritional support, behavioral interventions, and support services.
References
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature genetics , 23 (2).
Glaze, D. G., Percy, A. K., Skinner, S., Motil, K. J., Neul, J. L., Barrish, J. O., ... & McNair, L. (2010). Epilepsy and the natural history of Rett syndrome. Neurology , 74 (11), 909-912.
Kerr, A. M., Stephenson, J. B. P., Opitz, J. M., & Reynolds, J. F. (1986). A study of the natural history of Rett syndrome in 23 girls. American Journal of Medical Genetics Part A , 25 (S1), 77-83.
Kozinetz, C. A., Skender, M. L., MacNaughton, N., Almes, M. J., Schultz, R. J., Percy, A. K., & Glaze, D. G. (2013). Epidemiology of Rett syndrome: a population-based registry. Pediatrics , 91 (2), 445-450.
Mayo Clinic (n.d). Rett syndrome . Retrieved 12 August 2017, from http://www.mayoclinic.org/diseases-conditions/rett-syndrome/basics/treatment/con-20028086
National Institute of Health (NIH). (n.d). How many people are affected by or at risk of Rett syndrome? Retrieved 12 August 2017, from https://www.nichd.nih.gov/health/topics/rett/conditioninfo/Pages/risk.aspx
Orpha.net. (n.d). Rett syndrome . Retrieved 12 August 2017, from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=778
Rettsyndrome.org. (n.d). About Rett syndrome. Retrieved 12 August 2017, from https://www.rettsyndrome.org/about-rett-syndrome
