MECP 2 Gene is the one that is the driving connection between Rett syndrome and some of the other disorders or conditions that exist. This gene is responsible for providing signals and proteins for the functioning of the brain.
Young children often time suffer from neurological syndromes and disorders, which makes the parents question themselves. Did they do anything wrong in their pregnancy? The answer is that often time, the rarity of these disorders is not in any one's hand.
Rett syndrome is a rare genetic disorder found only in girls. The syndrome has an impact on the speaking, walking, eating, and breathing ability of the individual suffering from the disorder. The time frame when the syndrome becomes noticeable ranges from 6 to 18 months when the child misses some of the critical developmental stages. It is a neurological disorder that does not have any cure, but early identification can be extremely helpful for the family. An estimated 1 in 9,000 to 10,000 females are affected by this disorder. It causes issues in coordination, communication, and language as well, along with other brain functions. Rare cases exist where males have been affected by this syndrome, but mainly females are the ones who suffer from this brain disorder.
Symptoms of Rett syndrome
Usually, for the first six months of the baby's life, it is difficult to detect any signs about the disorder, but the time frame between 12 to 18 months is when the symptoms become more noticeable. Although the symptoms tend to vary from one person to another, there are some fundamental indicators:
Slow growth: as this is a brain disorder, the one area that is the most affected by it is the brain. The disorder slows the growth of the brain, stopping it from growing properly. This condition has a name of its own called microcephaly, where the head is usually small. It can be transferred genetically or can be acquired through the environment. Movements of the hands: most children that are suffering from Rett syndrome tend to lose the ability to use their hands properly. They would either ring them together or rub them. Language issues: as the child grows old, their social and language skills start to diminish, and the child ends up having social anxiety. They would stop talking or deliberately stay away from other people, toys, or things in their surroundings. Coordination and muscle issues: walking can become difficult as a result of this.Breathing problems: an individual suffering Rett tends to have breathing problems such as they might be exhaling air forcefully, or swallowing air. There might be cases of seizures, as well.
The symptoms are a part of the disorder for life. It usually persists until the end of the individual's life, although there are symptoms that can come and go, such as a sleeping disorder.
Causes of Rett Syndrome
The gene is responsible for the regulation of other proteins in the brain cells and their circulation. Changes in MECP2 can lead to impairments, and it negatively impacts the communication link that exists between the cells. Many researchers suggest that the MECP2 gene is enough during embryonic development; however when it decreases during the stage of postnatal development, it leads to the development of such symptoms. Therefore, the first step is to switch off the MECP2 gene when the child grows up as it assists in the development and maintenance of the neurological functions.
The syndrome, although it is not inherited, has cases where it can be found in families lineage. Mutation in MECP2 gene can lead to the syndrome. Males with the mutation are the ones who do not live past the stage of infancy. But the symptoms found in a male are often described to be on the lighter side of the spectrum. The life expectancy of the patient suffering from MECP2 usually lasts for over 25 years. In very rare cases do the children not live past the stage of infancy. However, the disorder tends to vary from one individual to another and the extent to which it affects them as well.
The exact way the MECP2 gene influences or leads to Rett syndrome and symptoms is still pretty unclear. More research is being done to understand better the role MECP2 gene mutation plays in this syndrome and other conditions as well.
MECP2 Duplication Syndrome
MECP2 Duplication Syndrome is a neurodevelopmental disorder that results from the duplication of the gene MECP2 on chromosome X. it mainly affects males. Still, females who carry a piece of the duplicated chromosome would also have some signs of the disorder. Some of the symptoms include weakness in muscle tone, intellectual disability, heartburn, breathing problems, speech issues, seizures, stiffness in muscles, imbalances in movements, and acid reflux. The symptoms become more noticeable in the first year of the child's life. MDS is commonly found in young boys. However, the degree to how often it occurs is still not clarified.
MECP2 is usually diagnosed using the Array CGH test, which has been categorized as the best screening test for genetic disorders or conditions. The syndrome has no apparent cure, but the treatment helps the parents and family members in coping with it. The first step is to educate the parents about all aspects of the disorder. Next, they explained the risks and procedures involved in dealing with the syndrome and how to manage it. Speech therapy is one of the treatments often time used, along with behavioral therapy. Some of the therapies are dependent on the specific abnormalities that vary from one patient to another. Children suffering from the syndrome, sometimes, in certain cases, would have to be fed through tubes. Therefore clear instructions and guidelines should be available. In cases of infections, professional help should be called immediately.
Rett syndrome is a very complicated disorder. The children who suffer from it cannot live an independent life once they grow up, and they need the support and care of their family. The parents especially need to realize that the disorder can be managed if they get the right education and treatment on time. They also need to belive in their kids and make sure every therapist is also believing in their capabilities, even though at first sight, it's hard to see they can understand everything. It's the apraxia that prevents them from communicating.
Early detection is also crucial as it can help in normalizing the entire process for the parents and or the patient as well.