Rett Syndrome: Causes, Symptoms, Treatment, Management, Diagnosis

What is Rett Syndrome?

Rett syndrome is a rare, severe neurological disorder that affects mostly girls. It’s usually discovered in the first two years of the child’s life. Earlier, Rett syndrome was believed to be part of the Autism Spectrum Disorder, but now it is considered to be a genetic disorder. Comprehensive piece of read on Rett syndrome.

What Causes Rett Syndrome?

What Causes Rett Syndrome?

Rett syndrome has found to be triggered by a mutation on the X chromosome, but the exact cause of why the mutated gene leads to Rett syndrome is still not clear. Researchers believe that the single mutated gene influences other genes involved in development and thereby retards the child’s growth. Although Rett syndrome is a genetic issue, children rarely inherit the faulty gene from their parents and the mutation that happens in DNA rather occurs by chance. Male newborns who develop Rett syndrome mutation rarely survive past birth. This is because unlike the presence of two X chromosomes in females, boys only have one X chromosome and so the effects of Rett Syndrome are much worse and mostly fatal in boys.

What are the Symptoms of Rett Syndrome?

The age at which the symptoms of Rett syndrome appear differs from patient to patient, but most infants with Rett syndrome are usually found to grow normally for the first 6 months before any signs of this disorder become obvious. The most common changes of Rett Syndrome usually show up when babies are between the age of 12 and 18 months, and these changes can be sudden or progress slowly. Rett syndrome is characterized by symptoms, such as delayed growth of the child. The patient’s brain does not grow properly and their heads are generally small (microcephaly). The stunted growth of the child suffering from Rett Syndrome becomes more evident as they grow older. Most kids with Rett syndrome experience problems with hand movements. They always tend to squeeze or rub their hands together. Their language and social skills begin to decline between ages 1 to 4.

Children with Rett syndrome have extreme social anxiety, stop talking, lose interest in toys, people and their surroundings, and start staying aloof. Hyperventilation, uncoordinated breathing, difficulty in breathing, forceful exhaling, swallowing air, and seizures are other symptoms experienced by children suffering from Rett syndrome. They develop muscular problems and issues with coordination as well which make walking awkward for them. Children with Rett syndrome also become more tense and irritable with age. They tend to cry, scream and even laugh for long durations. Rett syndrome is a lifelong condition and its symptoms generally never improve over time. They rather worsen gradually or don’t change at all. People with Rett syndrome are rarely able to live life independently.

How is Rett Syndrome Diagnosed?

Rett syndrome is diagnosed on the basis of a girl’s or patient’s behaviors and pattern of symptoms. Doctors can detect Rett Syndrome by observing the patient and also talking to the girl’s parents to know more about the presence of symptoms of this disorder. Since this is a rare disease, doctors only zero down on Rett syndrome after ruling out the possibility of other conditions like cerebral palsy, parental brain disorders, autism spectrum disorder and metabolic disorder. Doctors also need to do genetic testing to further confirm the diagnosis of Rett Syndrome. This test can also help to predict the severity of Rett Syndrome as well.

How is Rett Syndrome Treated and Managed?

Although Rett syndrome is an incurable disease, there are treatments which can help to relieve the symptoms of this condition effectively. Children with Rett syndrome need to continue these treatments throughout their life. Rett syndrome can be best treated and managed with standard medical care and medication, speech therapy, physical therapy, occupational therapy, behavioral therapy, good nutrition and supportive services. These therapies have proven useful in helping girls with Rett syndrome, improve their social interaction and even go to school. Movement problems faced by the patients of Rett Syndrome can also be treated with certain medicines. Seizures occurring in Rett Syndrome can also be controlled with proper medication.

Final Take

Although there is still no cure for Rett Syndrome, its early identification and treatment can help patients and their families who are affected by Rett syndrome to manage this condition more effectively. Many girls having Rett syndrome have lived at least into middle age. A child’s diagnosis with Rett syndrome can be very overwhelming, but their families should always remember that by offering proper care and unconditional support to their little angel, they can help her live a better quality of life even with Rett Syndrome.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:December 20, 2021

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