Rett Syndrome: Rare Disorder
It is possible that you may not even have heard of Rett Syndrome, as it is a very rare disorder that almost exclusively affects females. According to Cleveland Clinic, 1 in every 10,000- 15,000 baby girls is born with Rett Syndrome–very rarely are males affected. In short, Rett syndrome is a genetic neurological disorder that affects the development of the brain and causes a progressive loss of motor skills and language over 4 stages: early onset; rapid deterioration; plateau and late motor deterioration. Most babies born with Rett Syndrome appear to develop normally until 6 months of age, when symptoms start to appear–most pronounced changes take place between 12 and 18 months of age.
What are the Symptoms?
As any new parent, you are likely very closely observing your child’s growth, and keeping a close eye on the development of their mental, linguistic, and motor skills. Know that before a diagnosis for Rett Syndrome is given, other conditions that may resemble its symptoms must be ruled out first.
- One of the first symptoms is being born with an abnormally small head–as the infant grows, there will be delayed growth in other parts of the body as well.
- Loss of movement and coordination abilities is another symptom. At the age when your baby should normally learn how to crawl, walk, or use their hands you may notice a rapid loss of these abilities.
- Loss of linguistic and communication abilities is often seen in children with Rett Syndrome as well. Children impacted by Rett may rapidly lose the ability to speak, or communicate in other ways; this can be accompanied by a loss of interest in their surroundings as well.
Some other symptoms closely resemble more common neurological disorders–like Autism Spectrum Disorder–since children may develop unusual eye and hand movements that are repetitive and seemingly purposeless, may become increasingly and easily irritable and agitated, display intellectual disabilities, or suffer from sleep disturbances.
How is it diagnosed?
As mentioned, since Rett Syndrome can resemble other neurological or genetic disorders, most professionals will approach it by process of elimination. Parents and caregivers play a big role in the diagnosis process as they can keep a detailed record of the child’s development and activities/responses.
If healthcare providers deem it necessary, or parents request it, then a simple blood test is performed to look for the gene mutation MECP2 that has been known to confirm the diagnosis of Rett Syndrome. Unfortunately, this mutation is quite random (and rare) so pre-genetic testing will not show any results. In fact, the chance of passing down Rett Syndrome from a healthy parent to their child is less than 1%. If someone in your family has been diagnosed with Rett Syndrome, you would want to bring this up with your healthcare provider, but Rett is generally not an inherited condition.
https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233
https://my.clevelandclinic.org/health/articles/6089-rett-syndrome#diagnosis-and-tests