Rett Syndrome is a genetic brain disorder first described in 1966 by Dr. Andreas Rett, an Austrian neurologist and author. It is a rare childhood neurodevelopmental disorder that causes intellectual and physical disability, which affects most females. Symptoms may not appear early as the child generally appears to grow and develop normally. However, this syndrome typically becomes apparent in the first two years of a child's life.

Causes

In most studies, approximately 1 in 10,000 girls are affected by Rett Syndrome. This happens when there is a change in the X chromosome on a gene called MECP2. There is also a separate condition called 'Rett Syndrome in Males' and is also caused by changes to the MECP2 gene. 

Based on some scientific studies, although Rett Syndrome is genetic, results show that children almost never inherit the faulty gene from their parents. Scientists believe that not everyone who has MECP2 mutations has Rett Syndrome. 

Signs of Rett Syndrome

The symptoms of Rett Syndrome vary from child to child. Early symptoms may include problems in crawling or walking and diminished eye contact. Children may lose skills they have already learned such as the ability to use their hands for certain activities, social interaction, and such spoken language.

As a child grows, symptoms may increasingly display such as loss of muscle tone, increased irritability, compulsive hand movements, and inability to speak. As the syndrome progresses, symptoms will appear severer and may lead to Apraxia, or the inability to perform motor functions. 

• Slow Development

A child's brain grows slow after birth. The head is usually small and usually called by doctors as microcephaly - a rare nervous system disorder that causes a baby's head not to fully develop.

• Problems with Normal Movements and Coordination

Most children with Rett Syndrome loses the ability to use their hands purposefully. They make repetitive hand movements such as clapping, tapping, or wringing. These symptoms happen to children between 1 to 4 years old.

• Inability to Communicate

A child begins to lose the ability to speak and can have extreme social anxiety. You will easily notice that they lessen their eye contact and interest in people.  However, they could have unusual eye movements such as blinking, intense staring, or closing one eye at a time.

• Breathing Problems

Breathing irregularities such as hyperventilation, episodes of apnea, rapid or slow breathing, swallowing air, and even seizures may occur in children with Rett Syndrome. Multiple seizure types may occur and often accompanied by abnormal electroencephalogram (EEG).

Diagnosis and Treatment

Diagnostic evaluation of Rett syndrome usually begins based on a child's pattern of symptoms, behavior, and development. The method also includes conducting evaluations of the child's physical and neurological status.

For classic diagnosis, there is a certain criterion that must be met. Tests may include Genetic Testing to identify mutations of the MECP2 gene, Neurological Testing that evaluates the electrical activity in the brain, Imaging Tests such as X-ray or MRI to examine bones and other organs, and Pulmonary Function Tests to determine the health status of the child's heart and lungs.

Currently, there is no cure for Rett Syndrome. However, there are treatments that focus on the management of symptoms such as medication for breathing irregularities and motor difficulties. There are also therapies for children with Rett Syndrome that must be customized for every child's specific needs.

Developmental intervention will help a lot and can make a difference in a child's life. This can improve outcomes and help a child reach her full potential with the help of health professionals.