Tag: Mary Catherine Meno

Rett Syndrome

By Mary Catherine Meno

What is it?

Rett Syndrome (RTT) is a neurological disorder that causes impairments that impact every aspect of someone’s life. This includes their ability to eat, speak, walk, and/or breathe easily. The disorder is almost only found in girls and is a postnatal disorder, meaning that symptoms develop after the child is born, typically after 6 months of age (NCBI). The mutation that causes RTT is on a gene that controls the expressivity and functions of other genes. An individual’s inability to perform daily actions is caused by the mutated gene interfering with cell communication and protein production. Life expectancy for those with Rett Syndrome is shortened and most patients live into their 40s or 50s (“Rett Syndrome: Frequently [. . . ]”). During those years, there is often no improvement of the condition though individuals can participate in various types of therapy to lessen their symptoms and help them communicate. In most cases, the condition does not decline, however, meaning that after the first couple years the state of the affected individual will not worsen as they get older.

What’s the trait?

Rett Syndrome is caused by mutations on the MeCP2 gene that is found on the X chromosome, the reason it is found almost exclusively in females. The disorder affects about 1 in every 10,000 births, a very rare condition (NCBI). MeCP2 is a methylation protein, so in the DNA it turns off certain genes (i.e. muscles don’t need to produce neurons, etc.) but the mutation turns off genes that it’s not supposed to, a phenomenon called X-inactivation. The mutation is also linked to various other diseases including Angelman syndrome and lupus (MECP2).

Why get tested? 

Genetic testing can be done with a simple blood test and is the primary way to confirm diagnosis for Rett Syndrome. The primary gene involved with RTT is the MeCP2 gene that essentially is in charge of turning on and off certain genes based on their function and the area that they are contained in. With the results families are also able to learn about the specific mutation that their child has. There are many clinical trials taking place and testing positive for RTT is one step towards being eligible for these trials. By obtaining test results, the information can also be used, with permission, to increase the current knowledge of Rett Syndrome and MeCP2 mutations (“Rett Syndrome Diagnosis”). The most cost-effective test would be a single DNA gene sequencing test, as there is only one gene currently known to be associated with RTT. This test ranges from $100-$300. A test that confirms a mutation in MeCP2 does not necessarily confirm Rett Syndrome, as mutations on the gene are also associated with other disorders. Results showing a mutation on the MeCP2 gene indicates a small range of disorders and determining which mutation the individual has as well as a doctor’s diagnosis of the symptoms will be able to tell you and your family if your child has RTT (MECP2). The majority of RTT cases are caused by a mutation on MeCP2, however there are a few situations where this was not the case. Therefore, if the results are negative there are is a small chance your child could still be affected, but this is largely depended on the symptoms they are showing and the doctor’s analysis.

Think Before You Spit

While there are certainly benefits to getting tested, there are potential downsides as well. As mentioned above, 80-97% of cases are caused by mutations in the MeCP2 gene but there is a small chance that the results could be negative and the individual still be affected. It should also be considered before ordering testing that this disorder is not inherited. Understanding a family member’s gene sequence would not provide any information as to whether or not the child is likely to be affected as less than 1% of cases are inherited from parents, and having one child with Rett Syndrome does not increase the chances of having a second child with the disorder (“Rett Syndrome: Testing [. . . ]”). 

Ethical Considerations 

When ordering a DNA test for Rett Syndrome, it is likely going to be from doctor’s orders rather than an at home test. This means that the results will be less commercialized and that the privacy around the results will be higher. Single gene sequencing cost is not as high as other testing options but could still be a burden on families, as well as the post-results resources needed for helping with care. The emotional burden of finding out the results will likely be lower than being tested blindly. Getting tested means that you are confirming a doctor’s diagnosis, so families will have already received the news. A positive result would most likely be the best outcome, because it is confirming previous suspicions. A negative result could lead to further testing to understand what is causing the child’s symptoms and potential confusion before finding a diagnosis. 

Asking the Right Questions 

 Most people understand that their genes can be passed down to their children, but it is important to understand that Rett Syndrome is not passed down through genetics. It’s a rare mutation that occurs sporadically, so a child testing positive for RTT does not increase any family member’s chances of having the mutation. While it is possible for someone to be an asymptomatic carrier, this happens in less than 1% of cases and prenatal screening can be completed in these situations (“Rett Syndrome Fact [. . . ]”). Families should be prepared to explore further testing options if the results are negative, as it would be necessary for diagnosis. Testing for Rett Syndrome without doctor recommendations is not suggested, as the test is gene specific and the disorder is very rare. However, if someone does get tested and the results are positive, it is highly recommended to share these results with the doctor in order to become more knowledgeable about resources and support. 

All evidence points to getting tested if diagnosed by a doctor, as it is the only way to confirm the diagnosis. Individuals are also eligible for clinical trials if they test positive, and there are no clinical downsides to getting tested. One study pushes people to get tested if diagnosed because once the mutation is confirmed, researchers can look at the early childhood of the individual to help understand “the early phenotype of RTT” (Marschik, et al). There are a multitude of studies working to explore and understand Rett Syndrome, but there are almost no studies on the negative side of being tested. 

Sources

Huldie, Janine. “Rett Syndrome Awareness for One and All… – Janine’s Confessions of a Mommyaholic.” This Mom’s Confessions, 19 Dec. 2016, www.janinehuldie.com/1051/.

Marschik, Peter B, et al. “Early Development in Rett Syndrome – the Benefits and Difficulties of a Birth Cohort Approach.” Developmental Neurorehabilitation, Taylor & Francis, Jan. 2018, www.ncbi.nlm.nih.gov/pmc/articles/PMC5796587/.

“MECP2.” SNPedia, 6 Oct. 2015, www.snpedia.com/index.php/MECP2.

National Center for Biotechnology Information (US). “Rett Syndrome.” Genes and Disease [Internet]., U.S. National Library of Medicine, 1 Jan. 1998, www.ncbi.nlm.nih.gov/books/NBK22188/.

“Rett Syndrome Diagnosis.” Rettsyndrome.org, www.rettsyndrome.org/about-rett-syndrome/rett-syndrome-diagnosis/.

“Rett Syndrome Fact Sheet.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, 13 Aug. 2019, www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet.

“Rett Syndrome: Frequently Asked Questions: Boston Children’s Hospital.” Boston Children’s Hospital, www.childrenshospital.org/conditions-and-treatments/conditions/r/rett-syndrome/frequently-asked-questions.

“Rett Syndrome: Testing and Diagnosis: Boston Children’s Hospital.” Boston Children’s Hospital, www.childrenshospital.org/conditions-and-treatments/conditions/r/rett-syndrome/testing-and-diagnosis.

CCHS Outreach Reflection – Mary Catherine Meno

For my outreach project I went to Clarke County High School and worked with students in one of the biology classes to look at various bacteria samples and calculate the number of colonies that grew. To prepare for this, I did the experiment beforehand. We first took samples of soil and divided them up into smaller samples and diluted those to varying degrees. These diluted samples were then plated on tet plates and left to allow bacteria to grow. A week later, the colonies in each sample were counted and the total colony formulating units (CFUs) and the percent that were resistant to tetracycline were calculated. The samples were later taken to Clarke County High School where I worked with students to count the colonies and do the same calculations. The research completed may be similar to any future research I participate in in terms of the methods followed. While the content of the research itself may be different, it is import to follow scientific steps and also be aware of errors such as cross contamination or human miscalculation.

Once at the high school, I explained to the students the lab work that had previously been completed with their soil samples. It’s important for the students to understand the background of what they’re doing and where the samples came from so they realize that some of these samples were from their own soil sites. I walked the students step by step through calculating the CFUs and had them work in pairs so everyone was engaged. Lastly, I had the students report their data to the PARE website so that it could be used for other purposes. The information and knowledge I gained about soil sampling and testing came from in-class lectures and case studies as well as hands on experience in the lab and classroom. Presenting the lab and information to the students definitely helped me learn about the topic better because I had to have a more complete understanding in order to answer the students’ questions.

In order to be intellectually stimulating, the project had various aspects that allowed students to participate in. They gathered soil samples and then, after the lab work, were encouraged to think about where that soil came from and what the results meant in terms of that location. To be relevant to the students, we were working with soil that they had collected. When the students actively participate in this way it gives them a reason to be more invested and motivated to help with the process. It was somewhat difficult to be creative when we were following a set list of instructions, but I worked to incorporate various relevant questions and different teams to introduce creativity. In this process I learned that it can be difficult to manage multiple teams at once, but that I am able to do this efficiently. I also was reminded of the various interests of high schoolers and how those interests can carry over into unique questions related to the project.

I analyzed my audience before even arriving to the school and assumed that I would need to work to engage them in the project as some of them may not show great interest. However, I learned that the students were all curious because they had a personal “stake” in the process since we were using their own soil sample. In the future I think it will remain important to have predetermined strategies for engagement but that it’s okay to be flexible and be prepared to disregard those if the audience is actively engaged or engaging in a way you didn’t think about. Next time I do an outreach project like this I plan to not hand out the samples until after giving an introductory speech/explaining what we will be doing, as the samples can be distracting.

By participating in this outreach project I was able to better understand the course content because I had to know the background and the information on a level where I was comfortable answering questions that are not just the straightforward ones. Preparing for this project by analyzing the audience and using that to adjust my approach and ensuring the content was presented at a level that was comprehendible allowed me to better understand presenting and working with groups of different ages. With this experience I learned that coursework in college is still relevant coursework in high school because of the underlying topic that it relates to. Both the high school students and our class are learning about water quality, the only difference is the scope at which we are learning it. Understanding this will allow me to work further with people of various age groups on topics and issues that I am covering in classes even if I hadn’t thought that it would be relevant. I believe that what I came to deliver and help the students understand came across fairly clear, though in the future I could work on explaining the affects of the results and the projects and what they mean to the students. The outreach project overall was effective in helping me gain a deeper understanding of water quality and what affects it and using presentation and leadership skills to share this information with others. Now I know that what I am learning here is relevant everywhere and to everyone and hopefully it can be shared widely in order to work to change the quality of our water systems.