Is Rett Syndrome Hereditary & Can A Person With Rett Syndrome Have Children?

Rett syndrome is a disorder of the brain, which occurs exclusively in girls. This article deals with the common concerns of whether Rett syndrome is contagious and if a person with Rett syndrome can have children.

After birth, the girls who have Rett syndrome have 6-18 months of normal development prior to the development of severe problems with learning, communication and language, coordination and brain functions. In early childhood, the affected girls lose the skills of how to use their hands and engage in repeated hand washing, wringing, or clapping motions. They grow slowly compared to other children, and most of them have small head sizes. Other symptoms and signs that develop include spitting or drooling, breathing abnormalities, unusual eye movements like excessive blinking, irritability, cold feet and hands, seizures, sleep disturbances, and abnormal spine curvature. There are four stages in a Rett Syndrome.

Is Rett Syndrome Hereditary?

Coming to the question, is Rett Syndrome hereditary? The fact is that Rett Syndrome is a genetic disorder but the way in which the genetic changes occur and the way they affect varies. Classic Rett Syndrome and several variants of this syndrome with mild or severe symptoms may happen due to specific genetic mutation. The genetic mutation which causes this disease happens randomly, generally in the MECP2 gene. Only in some cases, this disorder of genes is inherited. The mutation results in problems with critical protein production for development of the brain. The exact cause is still unknown and it is being studied.

As the chromosome combination in males is different from females, a male child with a genetic mutation, which causes Rett syndrome, does not become affected in such a devastating way as compared to a female child. A few numbers of boys have a different mutation that makes Rett Syndrome less destructive.

Rett syndrome is a genetic disorder; it means that it is caused by the faulty genes. Less than 5% of the recorded cases are passed or inherited from one generation to another. Generally, mutation happens during the division/replication of chromosomes and more commonly during formation of the sperm and less commonly during the formation of the egg. Thus, many Rett syndromes happen randomly instead of being inherited. Still, there are many cases where the parent carries it and clusters of these cases within the families are found in the particular geographic regions like Norway, Sweden, and North Italy.

These days, it is recommended that mothers of children having Rett syndrome should have their carrier testing done. Fathers are less likely to be carriers because of the very fewer cases of Rett syndrome in males. If the mother is carrying the syndrome then the risk of occurrence in the next child is 50 percent. If she is not a carrier then the risk of occurrence is below 0.1 percent. Since Rett syndrome occurs due to mutations in genes, recurrence risk varies from child to child.

Can a Person with Rett Syndrome have Children?

Another common worry that bothers families with such cases, is that can a person with Rett Syndrome have children? There is no reason as to why a person with Rett syndrome cannot have children. In women, there is an inactivation between X-chromosome that contains the mutation. It means that the condition may be from a life-threatening and challenging phenotype that can be hardly noticed or be undetected for many years.

There have been cases of mothers known to be mutation carriers and have children suffering from Rett syndrome; however, it is arguable whether they are Rett Syndrome sufferer themselves till the time they are diagnosed for Rett syndrome.

Male carriers of Rett syndrome mutation usually do not survive till adulthood because they do not have the advantage of the second X-chromosome. However, if a male child having Rett syndrome also suffers from Klinefelter Syndrome, wherein they have a second X-chromosome apart from Y-chromosome, they can survive.

Conclusion

Rett Syndrome is a genetic condition that occurs due to certain genetic changes and may affect the following generations in varying ways. However, it is very much possible for a person with Rett Syndrome to have children. Genetic screening is highly recommended for families having this condition to asses the risk and take necessary action, as appropriate.

People with Rett Syndrome symptoms continue to live properly till middle age and after that too. As the disorder is very rare, there is little knowledge about life expectancy and long-term prognosis. There are many women in 40s and 50s who are living with this disorder; presently it may not be possible to make an estimate about life expectancy after the age of 40. Researchers are finding out other genes that can be involved in Rett syndrome. Some studies have narrowed down these genes, but it is still not known whether the genes can contribute to or cause Rett syndrome.

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