Symptoms of the Rett Syndrome – Genetics&Birth Defects Example

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"Symptoms of the Rett Syndrome" is a great example of a paper on genetics and birth defects.   Rett syndrome is an infant neurodevelopmental disorder that affects girls. The child usually appears to grow and develop in a normal way before symptoms begin.   Development then slows, during the first life year, and then degenerates as babies lose speech, hand use, and mobility. Only one in 15,000 newborn baby girls are born with this condition, making it a very rare condition. The syndrome is usually described as cerebral palsy, epilepsy, autism, and several chronic disorders confined into one (Hunter, 2011) This paper is going to address the real meaning of Rett syndrome, the discoverer, its causes and symptoms, possible treatments of the disorder and ethical and social aspects associated with the disorder. The Rett Syndrome was discovered by one Austrian pediatrician, Dr.

Rett Andreas, and his name was used to name the disorder.   He once said this in a conference: Our task is best summarized by these three words; to live to love and to learn. It’ s a fact that many anonymities of this disorder remain undisclosed, and hence in the meantime, we have no otherwise but live with it.

An outstanding factor in children with such disorders is us to understand them and them to understand us. Working with them and daily caring for them gives us adults’ strength, facilitating us to learn the special treatment they require, thus developing ourselves further. One day in 1954, Dr. Rett observed these children repeating the same hand-washing motions. Interested, he compared their developmental and clinical histories and found out that they were very similar. He went on with his study of these, together with six other children by recording their behavior and going around Europe in an attempt to get others with analogous symptoms.

During his tour, he collected information from over 30 girls and published his findings in 1966 in several popular Germany medical journals. In the meantime, in 1960, Dr, Bengt Hagberg, a Swedish researcher realized similar behavior in young female patients.   He took their files and set them aside for the study of queer cases. Later in 1983, published his findings in the main-stream journal Annals of Neurology.

After that, Rett syndrome became known and many investigators began their researches on the disorder. In 1999, researchers at Houston Texas’ s Baylor University discovered that Rett syndrome is caused when the MeCP2 gene is mutated. The MeCP2 gene is found in the X chromosome. Since females have a pair of X chromosomes, they can generally survive when one of the X chromosomes is not affected. A male with Rett syndrome is almost impossible since they usually die in the womb as they contain only one X chromosome. Even though the syndrome is genetic, less than 1% of all cases are hereditary.

The MeCP2 gene mutation occurs instinctively between the ages of five and seventeen months (NCBI, 2011). The MeCP2 gene has power over the making of proteins that promote the normal development of the brain. A child with Rett syndrome has much smaller than a normal brain. The MeCP2 protein develops the connections between nerves through which signals move. Under normal behavior, the protein controls other genes and hinders them from secreting proteins when they are not required. The protein is also responsible for making messenger Ribonucleic Acid which acts as the plan for protein making.

  Children with this disorder are found to contain more than 300 mutations of the gene including DNA deletions and a mutation which hinders the production of MeCP2 protein (Hunter, 2011). Rett syndrome is exemplified by standard development in the first 7-19 months followed by loss of regular sleep patterns, deterioration of motor skills, and scoliosis. Due to these symptoms, the disorder is often mistaken for cerebral palsy or autism which hinders many patients from receiving required treatment early enough.

During the early days, the disorder could take months and in some cases years to accurately diagnose as new symptoms came up. Today, a blood test is conducted on patients to test out for the MeCP2 gene mutation; nevertheless, neither a negative nor a positive test substantiates the diagnosis of the Rett syndrome (IRSF, 2013). There are both severe and mild symptoms of Rett syndrome. According to the National Institution for Biotechnology Information some of the symptoms of the disorder are Apraxia, breathing problems, excessive saliva and drooling, change in development, floppy legs and arms, learning and intellectual disabilities (assessing cognitive skills in such cases is hard because of the hand motion and speech impairments), seizures, scoliosis, loss of normal sleep patterns,   slowing head growth, loss of social engagement, loss of purposeful hand motions gastroesophageal reflux and severe constipation, severe language development problems and poor circulation that can cause cold and bluish legs and arms. When a child has this condition, the thing is that the normal development will retard.

Skills such as holding things firmly in the hand will be lost.

The ability to balance oneself, sit, and speak as well as many other abilities will be lost. According to Wood (2011), the harshness and even development of any of these symptoms will differ from child to child, and symptoms in many cases reverse to some extent when the child reaches adolescence stage. The life expectancy of an affected child is fairly indefinite, though a number of patients live years analogous to a child without the condition. Many death cases related to Rett syndrome are due to malnutrition, seizures, and accidents. Rett syndrome treatment is really more of a challenge to mitigate the impact of the disorder’ s symptoms.

The treatment generally involves far-reaching physical therapy and other types of therapy such as hydrotherapy. Patients use medications to prevent seizures, help with keeping motor skills, and correct breathing irregularities. Special treatment methods include treating constipation and weight-bearing exercises for those with scoliosis. Another hopeful treatment for this condition is stem cell therapy. Recent research indicates that RS causing the MeCP2 mutated gene can affect the growth of other genes on the affected X chromosome.

Through stem cell therapy, physicians will be able to replace the RS causing gene with a normal one. This will reduce the effect if not completely cure the Rett syndrome. Investigators pursuing genes connected to Rett syndrome currently face a number of ethical and issues. Most of the likely harms of research do not emanate from physical interventions but from the information on new genetic knowledge by the subject, her members of the family, and others who may endorse discrimination or stigma. The bone of contention in protocol design is whether results will be disclosed to participants.

Generally, with early projects to discover genes, research data will be of uncertain importance (Constantino and Todd, 2012). A major concern for the National Human genome inventiveness has been employment and insurance discrimination. The two issues have been the major focus of the Ethical Legal and social implications program at the National Human Genome Research Institute. The key apprehension is that prognostic information will be used by insurers and employers to deny employment because of health issues (Hall and Rich, 2010).

Due to this, many informed authority documents state that a participation risk in genetic research on Rett syndrome is the potential loss of employability or insurance.  

References

Constantino J. and Todd R. (2012): Intergenerational Transmission of Sub threshold Autistic Traits in General population: Biol. Psychiatry

Hall M. and Rich S. (2010): Laws Restricting Health Insurers’ use of genetic information: Impact on Genetic Discrimination: Ann J Hum Genet

Hunter, K. (2011): Tribute to Dr. Andreas Rett: About Rett Syndrome. International Rett Syndrome Foundation, n.d: Web. 8 Dec 2013

Rett Syndrome." PubMed Health. National Center for Biotechnology Information: Web. 8 Dec 2013. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002503/>

Testing and Diagnosis: About Rett Syndrome: International Rett Syndrome Foundation, n.d. Web. 8 Dec 2013.

Wood, D. (2011): Rett Syndrome: The Doctors of USC. University of Southern California: n.d. Web. 8 Dec 2013. .

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