Diseases and Disorders

Rett Syndrome: An Overview

Annie Pan


Introduction

In 1966, Austrian physician Andreas Rett documented abnormal behaviour in his journal, which was later published, about his female patients creating repetitive hand-washing motions. Researchers did not recognize this behaviour as a disorder until 1983, when Sweden researcher Bengt Hagberg published an article about it. To this day, Rett syndrome continues to affect children around the world as there is no known cure. Researchers don't know exactly how many people have Rett syndrome, but they know that it is most prevalent in young women and girls, affecting as many as 1 in 10,000 people in the United States alone. Current estimates suggest that this condition occurs in about 1 in every 10,000 girls worldwide [1]. As Rett syndrome started to become more known to the public, more information started to be uncovered, leading to the body of knowledge that we have currently.

 

General Overview

Rett syndrome is a rare neurological disorder that is most prevalent in females and is usually discovered within the first two years of life. Only in rare cases are males affected. This may seem strange, but this can be directly related to the difference in sex chromosomes between men and women.

Image result for chromosome with rett syndrome

The mutated gene (MECP2) that causes Rett syndrome is located on the X chromosome. Because of this, females are two times more likely to develop the mutation on one of their chromosomes as females have two X chromosomes. Most boys have only one X chromosome, so the detrimental effects of Rett syndrome are not attenuated by the presence of a second normal X chromosome. As a result, many males born with Rett syndrome are stillborn or do not live past infancy [2, 3].

Although the symptoms of Rett syndrome are not visible at birth, challenges await the child as he/she grows [3]. Rett syndrome can cause many deficits that will be examined later on in this article. Because Rett syndrome can affect all racial and ethnic groups, it is important to start by understanding the symptoms caused by its presence and then check out a few treatments that have been created over the years to help combat the disorder.

 

Symptoms

Rett syndrome is commonly diagnosed in babies between 12-18 months [2]. The infant will grow normally for the first 18 months, but then symptoms will start showing. Rett syndrome affects brain development and therefore causes a myriad of deficits and abnormalities in growing children. One of the first few symptoms is slowed growth. Parents might start noticing that the infant has a smaller head size, and as time goes on, more parts of the body will appear as small compared to those of other children of a similar age. Observable loss of regular movements is also a characteristic symptom, which most parents will notice as an infant’s inability to crawl [2, 4, 5].

Later on, children will start to lose their ability to communicate. The child might stop making eye contact and pay less attention to others. Children often have abnormal hand and eye movements. These may include but are not limited to clapping, blinking, tapping, and staring. As children with Rett syndrome grow older, they often become more irritated. Screaming and other forms of outbursts may manifest from the child as well, arising from their inability to complete simple tasks and communicate. Symptoms such as teeth grinding and seizures may also be present depending on the child [5]. Once a parent starts noticing abnormal symptoms, it is strongly encouraged that they take their child to a doctor. By seeking help during the early stages of symptoms, the progress of Rett syndrome may be slowed, and more severe symptoms may be prevented [2].

 

Treatments

Currently, no known method of prevention exists for Rett syndrome. In most cases, the genetic mutation that causes the disorder occurs spontaneously. Even so, if a child or other family member is diagnosed with Rett syndrome, it is recommended that the family asks the doctor about genetic testing [6]. Medication and therapy are available to decelerate the symptoms associated with this syndrome. Medication can help control symptoms of Rett syndrome, such as abnormal hand movements. Different types of therapy, such as speech-language therapy, can also help the affected individual to develop better social communication. Parents can request special aid for their child to allow increased person-to-person interactions and participation in school [7]. Research on potential cures for Rett syndrome is increasingly gaining focus. As our society continues to change, more advancements in medicine are being found annually. With the availability of the internet, people with loved ones that suffer from Rett syndrome are spreading the word about this illness, encouraging people all over the world to get involved with charities, such as the International Rett Syndrome Foundation to help find a cure for Rett syndrome once and for all.


References


  1. What Are the Treatments for Rett Syndrome?. Eunice Kennedy Shriver National Institute of Child Health and Human Development, U.S. Department of Health and Human Services. www.nichd.nih.gov/health/topics/rett/conditioninfo/treatments. Retrieved; 11/9/2018.

  2. (10/11/2018). Rett Syndrome. Mayo Clinic, Mayo Foundation for Medical Education and Research. www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233. Retrieved; 11/9/2018.

  3. (10/11/ 2018). Rett Syndrome. Mayo Clinic, Mayo Foundation for Medical Education and Research. www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227. Retrieved; 11/9/2018.

  4. Rett Syndrome Fact Sheet. National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet. Retrieved; 11/9/2018.

  5. FAQs. RettSyndrome.org. www.rettsyndrome.org/about-rett-syndrome/faq. Retrieved; 11/9/2018.

  6. What Causes Rett Syndrome?. Eunice Kennedy Shriver National Institute of Child Health and Human Development, U.S. Department of Health and Human Services. www.nichd.nih.gov/health/topics/rett/conditioninfo/causes. Retrieved; 11/8/2018.

  7. Rett Syndrome. Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services. https://rarediseases.info.nih.gov/diseases/5696/rett-syndrome. Retrieved; 11/8/2018.

Annie Pan

Annie Pan


Hi, I'm student at Ladue Horton Watkins High School who enjoys reading books. Have a good day!