Rett Syndrome Awareness Month

Rett syndrome is a rare genetic neurological and developmental disorder that affects brain development. This unpredictable syndrome is a result of a de-novo mutation, meaning that the defect is not inherited but appears spontaneously, and primarily affects females. Most infants with Rett syndrome have normal development for the first six months of life before symptoms begin to appear. The most pronounced changes generally occur between 12 to 18 months of age and progressively worsens over time.  

Symptoms include low muscle tone, irregular sleep patterns, seizures, as well as loss of acquired language and motor skills. These symptoms are present in most neurodevelopment disorders therefore Rett syndrome is often misdiagnosed as regressive autism, cerebral palsy, or nonspecific developmental delays. If a Rett syndrome is suspected, a blood test identifying the presence of the gene mutation can confirm the diagnosis.  

Although there is no cure for Rett syndrome, current treatment focuses on managing seizures, improving movement and teach new ways of communication. We can all help bring awareness to this rare disorder by wearing purple in October.

Resources

Mayo Clinic. (n.d.). Rett Syndrome. https://www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227

What is Rett Syndrome? International Rett Syndrome Foundation. (2023, August 8). https://www.rettsyndrome.org/about-rett-syndrome/what-is-rett-syndrome/