Research Assignment

Topic 1
Rett Syndrome is categorized as a Neurological Disorder which is more prevalent in girls
than boys. Retts presents itself through a range of physical symptoms that progress throughout
the individual's development. According to the International Retts Syndrome Foundation the
syndrome occurs within females more often because of mutations in the X chromosome called
MECP2 and affects 1 in 10,000 girls. The symptoms of Retts can begin in early development at 6
–18 months, which could present itself through difficulties crawling, walking, feeding, loss of
muscle tone and jerkiness in limb movement. As the individual goes through life, the symptoms
can progress into Scoliosis, seizures, apraxia, hyperventilation, handwringing, loss of mobility
and motor functions like speaking. Not everyone diagnosed with Retts will experience these
symptoms but generally will go through the stages of Retts, “Early onset, rapid destructive stage,
plateau stage and lastly late motor deterioration stage” (FAQs, 2023). Although these symptoms
sound daunting, many individuals with this syndrome have gone onto be great students with
support to assist their physical or neurological needs.
Topic 2
Rett Syndrome is a syndrome that is not treatable but can be managed by medications,
therapies and modifications or accommodations. Medications that can help regulate the
symptoms of Retts have been in the process of being created, one approved medication from the
FBA is Trodinetide which is called Daybue oral solution. This medication supposedly works by
stopping cells from being too active in the brain, reduces brain swelling and increases protective
protein in the brain. Medications and therapies go well together especially for Rett syndrome.
Occupational therapy, physiotherapy, speech therapy and hydrotherapy are usually used with
individuals with Retts. These therapies are used to help with mobility which is usually a
consistent symptom of Retts patients. In an educational setting Retts students can have support
set in place from their therapies and potentially need medications administered to them during
school hours. There can be recommendations for Educational Assistants to be trained in
conducting therapy activities with the student like daily stretches to improve muscle movement.
EA’s can also carry out specific modifications and accommodations for the student with Retts.
Common modifications could include augmentative communication technology, preferred
seating, equipment, presenting information/ lessons in picture form, changing design of
evaluations. The supports of modifications or accommodations can change over time with the
progression of the student's syndrome which the EA would follow based on their updated IEP.
Topic 3
Students who have Retts Syndrome can be supported in their educational journey through
different types of technology applications. Technology is used most often with Retts students for
communication, a device that supports physical disabilities is the Tobii Pro Spectrum. The Tobbi
Pro Spectrum is an eye tracking device which is compatible with all operating systems.
Information on the Tobii Pro Spectrum can be found on their website:
https://www.tobii.com/products/eye-trackers/screen-based/tobii-pro-spectrum#video . Another
application that can be assistive for tracking communication with self-care is in the web app
called My Rett Ally. My Rett Ally is a free online tool that tracks and organizes information that
is specifically designed for an individual with Retts. The tool can keep track of daily needs,
medical support, symptoms and necessary documents. Also, the information that is inputted can
be shared to caregivers or educational support staff through a secure link. To access My Rett
Ally go to link: https://www.rettsyndrome.org/myrettally/ . Thirdly, an app called WheelMate by
Coloplast is designed to give updates on nearest wheelchair friendly toilets or parking spaces.
This app would be beneficial for individuals with Retts because due to the syndromes symptoms
it causes individuals to be in a wheelchair. The app is free and available for iPad, iPhone and
Mac computers. More information on the WheelMate app found in this YouTube video
https://youtu.be/r03pJv4vr0w. Within the educational setting these three apps could allow
students who have Retts be more independent and allow EA’s to better support their
communicative, self-care and movement needs.
Not only do students who have Rett syndrome have assistive technology but also, it's
important for their families to have access to resources about Rett syndrome. The International
Rett Syndrome Foundation is an online resource with information and funds research for Rett
Syndrome. One of the resources available on the IRSF website is a downloadable Rett Syndrome
Handbook which outlines key information for families. The IRSF resources can be found
through this link: https://www.rettsyndrome.org/about-us/. Another online resource is Ontario
Rett Syndrome Association that is a non-for-profit charity that advocates for Rett syndrome. The
website has information about diagnosing Retts, symptoms, clinics, and current research. The
ORSA website can be accessed through this link: https://www.rett.ca/ . Lastly, an app called
understanding Rett Syndrome is an augmentative resource that allows the user to experience
visual genetics, symptoms and medical visuals. It’s a free online resource that allows users to be
fully immersed in Rett syndrome and can be found here:
https://apps.apple.com/us/app/understanding-rett-syndrome/id6459194427?platform=ipad.
Overall, resources and technology allow students with Rett syndrome, and their families feel
supported through their exceptionality diagnosis.
References

Center for Drug Evaluation and Research. (n.d.). FDA approves first treatment for Rett
syndrome. U.S. Food and Drug Administration. https://www.fda.gov/drugs/news-events-
human-drugs/fda-approves-first-treatment-rett-
syndrome#:~:text=FDA%20has%20approved%20Daybue%20(trofinetide,orally%20or%2
0via%20gastrostomy%20tube.

D’Souza, A. D. (2021, May 7). Schooling. Rett Syndrome News.

https://rettsyndromenews.com/schooling/#:~:text=Classroom%20activities%20may%20ne
ed%20to,assistant%20to%20help%20the%20student

FAQs. International Rett Syndrome Foundation. (2023, December 19).

https://www.rettsyndrome.org/about-rett-syndrome/faqs/

Rett syndrome - symptoms, causes, treatment: Nord. National Organization for Rare Disorders.
(2023, November 20). https://rarediseases.org/rare-diseases/rett-syndrome/

U.S. Department of Health and Human Services. (n.d.). Rett syndrome. National Institute of
Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-
information/disorders/rett-syndrome

What is Rett Syndrome?. International Rett Syndrome Foundation. (2024, March 5).
https://www.rettsyndrome.org/about-rett-syndrome/what-is-rett-syndrome/