October: Rett Syndrome Awareness Month

I had never heard of Rett Syndrome (also known as RTT) before until coming across students with this diagnosis. I received really great advice from a professor during OT school to look at a person's function/what they can do and not at their diagnosis. I still stand by this advice and put it into practice however being a curious student, I wanted to dig further into what Rett Syndrome was so I can better understand some of my students and their families. 

According to the NIH, Rett syndrome is "a neurodevelopmental disorder that affects girls almost exclusively. Based on Rettsyndrome.org, it is rare in males but does occur at a low prevalence. It begins with normal early development and growth but then turns into a slowing of development, loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability." 

Who discovered it? : Dr. Andreas Rett, an Austrian physician in 1966. He had described it in a journal. 

Early Symptoms in infancy: Hypotonia, difficulty feeding, jerkiness in limb movements. 

Overtime Symptoms: Loss of purposeful use of the hands, loss of ability to speak, problems crawling or walking, decreased eye contact, teeth grinding/difficulty chewing, breathing difficulties, sleeping problems, walking on toes, and apraxia (inability to perform particular purposive actions). 

Who gets Rett Syndrome:  Estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide. 

What will they be able to do? : Depending on the child, they will need help for most ADLs however they may be able to learn some independent skills such as using a communication device. According to rettsyndrome.org, "they express a full range of emotions and show their engaging personalities as they take part in social education, and recreational activities at home and in the community." 

There is currently no cure for Rett syndrome. Treatment for the disorder focuses on the management of symptoms depending on the child. 

For more information visit: 

http://www.rettsyndrome.org/

http://reverserett.org/about-rett/

https://rarediseases.org/rare-diseases/rett-syndrome/