Rett syndrome is a rare neurodevelopmental disorder that exclusively affects young girls. There are some exceptional cases, where boys were diagnosed with Rett syndrome, but that is exceptionally rare. .
The reason why it is so rare in boys is that they have only one X chromosome, whereas girls have two X chromosomes. This makes females more equipped to handle the mutation generated by their own DNA. Thus, Rett syndrome is most commonly found in young girls at a tender age of 6 and 18 months.
The primary cause for this neurodevelopmental disorder is mutation in a particular gene in the X chromosome. How this mutation affects the brain or what leads to the mutation, is still unclear.
Although Rett syndrome is a genetic disorder, it is never inherited from parents. In fact, studies have revealed that the chances of mutation arising from the girl’s DNA are higher than the chances of it arising from any other causes. Hence, other than the fact that this disease is most commonly found in females, no other risk factors have been identified.
Initial diagnosis of Rett syndrome is entirely based on a girl’s pattern of symptoms and behavior. Once conclusions from initial diagnosis have been drawn, discussions between a doctor and a girl’s parents are held. This helps them determine other important details, such as when the disease originated.
Later, genetic testing is conducted to predict the severity of the ailment.
Rett syndrome is a lifelong condition that has no specific treatment. However, some medications have been developed to improve movement and control seizures of those girls affected with Rett syndrome.
While medication is an option, a more viable and healthy option is physiotherapy. Through active physiotherapy intervention, girls are trained to live the best life with their condition. The key areas of focus are improving stabilization, balance, mobility and variation sought. This is most commonly done through exercises, speech therapy and sometimes even water therapy. Exercise in warm pool is highly effective for Rett syndrome. The water provides them with the support and resistance when needed.
Girls affected with Rett syndrome cannot be expected to live a normal life, but it is possible to increase their quality of life and make them as independent as possible. Since this is a lifelong condition, the worsening of symptoms is inevitable. Here, the only action that can be taken is reducing the speed of symptoms and providing support, both of which can only be provided by professional physiotherapists and family.