Rett syndrome is a rare disorder that affects mostly girls. It is a neurological disorder caused by a mutation on the X chromosome in the MECP2 gene. One of 10,000 girls in the world will suffer from the syndrome.
A baby born with Rett Syndrome will usually show the first signs of a developmental delay from the age of 6 months to the age of 18 months. The developmental delay can cause the baby never to develop some skills, or to develop them but then to lose them slowly when the regression starts.
Rett syndrome, also written as RTT, got its name after Dr. Andreas Rett, a neurodevelopmental pediatrician, which first discover and describe Rett syndrome in 1966. Also, in the 1960s, a Swedish clinical scientist and a child neurologist describe very similar observations, especially in girls.
Rett Syndrome symptoms
Rett syndrome can affect differently on each person. Some will never walk while others will always be able to walk, although their movement and walking stability will be limited and can cause many falls.
Another essential skill that will be taken away from those who suffer from Rett syndrome is the ability to talk. The speech ability, together with other communication skills such as the ability to point out with the finger, are some more skills that Rett syndrome takes away from the girls. One of the solutions that many use to bridge the gap of communication is a computer with eye-tracking technology. This communication technology allows those who suffer from Rett to communicate with their eyes. They will use their eyes as the computer mouse, and the eye-tracking system will recognize their eye movement, the point on which they are looking at, and "click" on it.
Unfortunately, there are many more symptoms that come with Rett syndrome:
Hand movements - children with Rett syndrome, will show very little to nothing of useful use of hands, meaning the hand movements can't move with purpose. Of course, also here, there is a wide range of hands use. Some will not be able to use their hands at all, and most of the time will show repetitive movements such as hand washing, hand wringing, and more. In many cases, there is an urge to put the hand in the mouth.
Seizures - Rett syndrome can cause Epilepsy.
Sleeping issues - The nights can become a sleepless night and will include many cases of waking up while screaming and crying, or just waking up without the ability to go back to sleep for hours.
Scoliosis - the spine can curve and cause many more issues. This symptom is more common when the patient lost entirely his ability to walk.
For more symptoms, - read here.
Rett Syndrome MECP2 mutation
MECP2 gene stands for methyl-CpG-binding protein-2 is, in short, a protein that controls the transcription of neurons in the brain. This gene mutation is the primary gene that causes most cases of Rett syndrome in females.
Read more on the MECP2 gene.
Rett Syndrome in boys
Although Rett Syndrome mostly affects girls, it can also affect boys but in a much smaller percentage. The reason is that the MECP2 gene is located on the X-chromosome. Female has two X-chromosome while a male has only one X-chromosome together with one Y-chromosome. SInce mals have only one X-chromosome, the affect of the MECP2 mutation was assumed to be much severe in comparison to girls that have one more healthy X-chromosome.
The first assumption was that males with Rett syndrome could not develop during pregnancy, and thus the pregnancy will end with the loss of the embryo.
However, that are still rare cases of males suffer from Rett syndrome. Males usually show severe health issues such as seizures and breathing issues.
Read more about Rett syndrome in Males.
Rett syndrome treatment
As of today, there is no clinical treatment that can cure the syndrome. Many clinical trials and medical treatments that already exist trys to address specific symptoms of Rett syndrome, such as seizures and Epilepsy, breathing problems, sleeping issues, and more.
Some clinical trials try to address the root cause of Rett syndrome. Some try to do it while using gene therapy and address that root cause in the gene. Other trials try to solve the outcome of the MECP2 mutation and improve brain activity and reduce neuroinflammation.
Read more about Rett Syndrome Treatment.
Atypical Rett syndrome
Atypical Rett syndrome has very similar symptoms, such as the classic Rett syndrome, but not all the criteria of Rett syndrome are met in the specific patient. One example is that the classic Rett syndrome is caused by a mutation on the MECP2 gene, while a mutation on the CDKL5 gene can cause atypical Rett syndrome. The CDKL deficiency disorder is also a neurodevelopmental disorder, similar to classic Rett, and also affect mostly females, although it still can affect male.