Medicine
The disease does not have a cure for now, but could probably have one in future through gene therapy.
Image for representation.

A two-old year from Guntur has been recorded as the first victim of the Rett syndrome - also known as ‘Silent Angel Syndrome’ - in Andhra Pradesh. A rare neurological disease, Rett Syndrome does not have a treatment so far, and it primarily affects females.

Doctors at the Guntur General Hospital (GGH), who diagnosed the child, Sahitya, on Thursday, said that there is no cure right now, but it may be possible in future through gene therapy.

GGH Neurology Wing Chief, Dr NV Sundarachary, said that two-year-old Sahitya could not speak properly and suffered non-rhythmic opening and closing of hands.

The Times of India reported that the child was fine up to nine months, but later, she lost her ability to stand and speak even in monosyllables.

Following this, Sahitya's parents took her to a paediatrician. However, the doctor found nothing abnormal, except for her hand movements.

Later, when she was taken to GGH, after imaging and EEG, the doctors still couldn’t find anything wrong with her. “Then we worked on two important clues, that she was a female child and had stereotypical hand movements. She was diagnosed with Rett syndrome,” Sundarachary said.

The child is in observation now at the GGH.

What is Rett syndrome?

The Indian Rett Syndrome Foundation describes it as a “unique neurodevelopmental disorder that is first noticed in infancy and primarily affects girls, but can be rarely seen in boys.” It affects one in 10,000 to 23,000 cases, according to some estimates.

The syndrome is non-inherited, and is usually discovered in the first two years of life.

In many cases, Rett Syndrome is falsely diagnosed as Autism or Celebral Palsy, because the symptoms are similar to one or more development disorders. Children with Rett Syndrome have typical hand movements, slow brain growth, problems with muscles and coordination, trouble with breathing, etc.

But one of the biggest effects of Rett Syndrome is the loss of speech - the disorder is therefore also known as ‘Silent Angel Syndrome.’

While there's no cure, early identification and treatment may help girls and families who are affected by Rett syndrome.

Symptoms

While Rett Syndrome can be noticed at different ages, most babies start showing signs between 12 and 18 months. Some of the symptoms you should look out for are:

1. A smaller than normal head size, caused due to slow brain growth.

2. Typical hand movements, as if the child is constantly ‘washing’ or ‘rubbing together’ her hands.

3. A sudden decline in language skills and social skills, and extreme social anxiety.

4. Difficulty in walking and coordination.

5. Uncoordinated breathing, seizures, hyperventilation, and forceful exhaling of air or saliva.

6. Constant irritability or long fits of laughter.

Symptoms of Rett syndrome usually don’t improve over time. It is a lifelong condition. Mostly, the symptoms worsen, or don’t change. And, people affected with it mostly need assistance.