Raising Rett Syndrome awareness: A glimpse into the world of ‘Silent Angels’

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Photo Credit: Elizabeth Halford

 

By Shilpika Srivastava

Imagine being not able to walk or even talk. How would you feel if you’re not able to grab your favorite cookie, or even worse, not even eat it? Imagine being locked in. Well, the pain that you can sense is just a tip of the iceberg.

There are many children on this earth who are leading a challenging life every day due to Rett Syndrome (RTT). Rett Syndrome is a rare genetic neurological disease disorder that predominantly affects girls.  And, if it affects boys, it results in early death.

With the help of Social Media, NewsGram reached out to a mother of a beautiful girl, Radhika, who is suffering from RTT. “It broke me when I saw her crying and screaming all night due to her regression phase of Rett. I don’t have words to express the feeling of helplessness, desperation and sheer hopelessness,” she said.

Radhika’s mother’s pain is evident and it seems like it’s a never ending journey for her.

Dr. Munish Raizada, a pediatrician and neonatologist based out of Chicago, says that it is disheartening that Rett occurs in 1 girl on every 10,000 female births, and yet awareness of Rett remains painfully low among the general public. In fact, the scene turns ugly as the medical community of India also does not have much clue about Rett Syndrome.

Indian Rett Syndrome Foundation (IRSF) is working profusely to raise public and professional awareness and understanding about the Rett Syndrome. It provides correct information describing diagnosis, causes, therapies, research and other aspects of this disorder.

NewsGram had an in-depth telephonic conversation with Samir Sethi, president of IRSF, who said that RTT is a mutation in the genes, which occurs naturally. RTT does not have any particular cause for it. The secretary of the foundation, Harsh Malhotra, who is also a father of a pretty daughter suffering from the syndrome, said that during the pregnancy itself, the mutation starts taking place in the DNA of the baby.

How RTT is diagnosed and what are its symptoms?

“There are two ways to diagnose it: Clinically and through a genetic test. However, both the tests have to go hand in hand to confirm the diagnosis,” said Mr. Sethi.

He further explained that the children dealing with RTT grow at a normal pace from 6 to 18 months. These children are the ones who have missed their milestones. A normal child is supposed to start sitting at about six months. However, when a girl is suspected of suffering from RTT, it is likely that she may not start to maintain her balance while sitting until about 9 months or 12 months. Therefore, instead of picking up the milestones, the child is actually going backwards and missing out on the learning, which turn out to be the first indication of RTT.

“The second indication is regression in the growth of the head circumference. Parents should notice that the head circumference of such children does not grow as a normal child as per the age,” added Mr. Sethi.

Thirdly, the child starts getting aloof. Normally, children at this particular age are very social. They mix with everybody, they play, they run around. RTT girls will behave differently. They will cry. They will be cranky. They will not like to interact with anybody. A lot of RTT’s symptoms are quite similar to that of autism.

Mr. Malhotra told NewsGram that there is one strange observation related to Rett Syndrome: they are very happy children despite the daily challenges, and for some reasons, they are also blessed with good looks. These are the reasons that Rett Children are known as ‘Silent Angels’ all over the world.

How is RTT different than autism?

“Autism is very different from RTT. In many cases of autism, you will not find any physical disability. But in RTT, you will find physical disability in almost every child,” stated Mr. Sethi.

He said that girls diagnosed with Rett Syndrome will not be able to walk. They cannot even speak whereas the autistic children are able to speak. It is very rare for a Rett child to talk.

One typical symptom of girls dealing with the syndrome is hand wringing. They will indulge in stereotypical hand movements and continuously rub their palms.

Is RTT curable?

As of now, there is no cure available for the disease. The only thing that can be done at the present moment is extensive rehabilitation, and physical and occupational therapy. However, there is a ray of hope as a lot of research is ongoing to find the cure of Rett Syndrome.

RTT does not cause death in girls!

Speaking about the life expectancy rate of Rett Syndrome, Mr. Sethi told NewsGram that RTT in itself does not cause mortality. However, it is the complexities from RTT  that lead to that makes the girls to lose out on their life.

Such children have a tendency to hold their breath for quite a long time as compared to normal children. This, at times, causes suffocation. In addition, they also have problems in terms of digestion. Many times, the food that should go into the food pipe instead goes into their lungs and causes choking.

“We have not heard of any case where a child dies because of RTT. It’s mostly the problems and complexities that come with Rett that cause the fatality,” says Mr. Sethi.

“One very stubborn problem that Rett children have is of pneumonia. A normal child is able to cough out the infection, but children suffering from the syndrome are not capable of coughing out the infection, which leads to accumulation of infection in the lungs. This is a major problem with Rett children resulting in deaths. On the other hand, as these children are also epileptic, it leads to seizures. It gets so worse at times that an emergency care is needed, and sadly there is none in India, and we lost a few girls like that,” expressed Mr. Malhotra.

How IRSF is trying to help the parents and create awareness about Rett Syndrome?

Mr. Sethi said that it is difficult for parents to coordinate with another doctor for a particular thing. For instance, Rett children also deal with epilepsy. A doctor may give one particular medicine for epilepsy; however, that drug might affect the child’s digestion. Therefore, there is a need of a consultation from a gastroenterologist as well. Therefore, IRSF is trying to bring the parents, care takers and doctors under one umbrella.

IRSF operates an annual program to create awareness about Rett Syndrome. They also visit hospitals and educate the doctors so that the moment they get any children like these, they can refer them to the foundation.

“We are working with ministry of social justice, Delhi government’s Department of Health and Family welfare. A disability certificate is required for all of the children suffering from RTT, and it is in the hand of government to issue the certificates. Also, it’s government’s responsibility to issue health insurances for these children. We are coordinating with the government to provide all these things,” added Mr. Sethi.

Mr. Malhotra tagged on that, “We are working with All India Institute of Medical Sciences , LNJP Hospital, GB Pant Hospital. The key concern is that the local doctors, who are the first point of contact for the parents, do not have a clue about RTT. Therefore, the syndrome often gets misdiagnosed as autism or other neurological diseases.”

  • Thank you so much for helping the cause of Rett syndrome. We are grateful to you to bring the focus on silent angels.

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Having a Pet Can Reduce Stress For Both Children and Adults

Pets may relieve stress for parents of kids with autism: Study

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pet family
Aa family pet can lead to strong bonds and reduced stress for both children with autism and their parents. Pixabay

Researchers have found that a family pet can lead to strong bonds and reduced stress for both children with autism and their parents.

According to the study, parents of children with autism report higher levels of stress on average than parents of typically developing kids.

“Some kids with autism have specific sensitivities, so a big, loud dog that is highly active might cause sensory overload for a particular child, while a quiet cat may be a better fit,” said study researcher Gretchen Carlisle from the University of Missouri in the US.

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“My goal is to provide parents with evidence-based information so they can make informed choices for their families,” Carlisle added.

For the results, the research team surveyed more than 700 families from the ‘Interactive Autism Network’ on the benefits and burdens of having a dog or cat in the family.

pet family
Having a family pet can help increase social interaction and decrease anxiety. Pixabay

They found that despite the responsibility of pet care, both children with autism and their parents reported strong bonds with their pets. Pet ownership was not related to parent stress, and parents with multiple pets reported more benefits.

“Given that the characteristics of autism spectrum disorder are so broad, it can be difficult to identify interventions that are widely beneficial,” Carlisle said. Some of the core challenges that children with autism face include anxiety and difficulty communicating.

Also Read- Ways to Beat Stress While You’re Pregnant in Lockdown 3.0

“As pets can help increase social interaction and decrease anxiety, we found that they are not only helpful in providing comfort and support to children with autism, but to their parents as well,” she said.

For parents considering adding a pet into their family, Carlisle recommends including the child in the decision and making sure the pet’s activity level is a good match with the child’s. (IANS)

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Yoga During Quarantine can be Beneficial for Autistic Children

Make good use of quarantine by teaching your kid some yoga

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Children
Yoga can be helpful during quarantine for children suffering from autism. Pixabay

Children who are autistic tend to have sensory experiences that are very different from others. As children with special needs, they have the kind of responses to situations that put their bodies in fight, flight, or freeze modes.

What this does is it diverts the flow of blood from the digestive organs to the skeletal muscles. This activity disrupts their digestion, increases their heart rate, and causes shallow breathing-which are big factors for anxiety.

Children autism
Autism puts kid’s bodies in fight, flight, or freeze modes. Hence, they have special needs. Pixabay

During this period of quarantine, it is recommended to train them in a few practices of yoga. This will help to increase their sense of peace; reduce their pain, anxiety, aggression, and any obsessive or self-sabotaging behaviour. Yoga along with making them calmer is also successful in regulating emotions.

Brahmari Pranayama

Method

Sit in any comfortable pose (such as Sukhasan, Ardhapadmasan or Padmasana)

Straighten your back and close your eyes

Place your palms on your knees facing up (in Prapthi Mudra)

Place your thumbs on the Tragus, the external flap outside on your ear.

Place your index finger on your forehead; your middle finger on the Medial Canthus and ring finger on the corner of your nostril

Inhale and fill your lungs with air

As you exhale, slowly make a buzzing sound like that of a bee, i.e., “mmmmmmm�.”

Keep your mouth closed the entire time and feel the vibration of the sound disseminate throughout your body. Duration You may begin by practicing this breathing technique for five minutes a day and gradually increase it with time.

Yoga
Brahmari Pranayama Calms body and rejuvenates mind. Pixabay

Benefits

Calms the mind and rejuvenates the body

Increases sensitivity to tastes and fragrances

Relieves stress and anxiety

Makes the voice pleasant and melodious and strengthens the vocal chords

Treats throat uneasiness

Balances blood pressure

Improves concentration

Udgeeth Pranayama

Method

Sit in any comfortable pose (such as Sukhasan, Ardhapadmasan or Padmasana)

Straighten your back and close your eyes

Place your palms on your knees facing up (in Prapthi Mudra)

Inhale deeply and fill your lungs with air

While exhaling, form a circle with your lips and say “Oooooooommm” for as long as you can

Feel the vibration of the sound disseminate throughout your body Duration You may begin by practicing this breathing technique for five minutes a day and gradually increase it with time.

Children yoga
Udgeeth Pranayama relieves tension, anger and anxiety. Pixabay

Benefits

Calms the mind, brings stability and decreases stress

It relieves tension, anger and anxiety

Effective to treat hypertension

Corrects sleep disorders (such as insomnia)

Improves memory

Surya Namaskar or the Sun Salutation can be taught to your child and it is ideal if practiced early in the morning. The Surya Namaskar contains a total number of 8 asanas woven into a sequence of 12 steps for each side, Right and Left. The sun’s energy is represented symbolically through the right side, therefore you must start with the Right leg first. One complete cycle is made of 24 counts.

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There are many benefits of Surya Namaskar; it strengthens muscles and joints, balances the nervous system, improves digestion, promotes balance between both sides of the body, helps combat insomnia and many more.

These postures or asanas along with the breathing exercises are effective relaxation techniques. Yoga provides the tools for self-regulation which can be useful for children with autism. Yoga helps to reduce irritability, social withdrawal, lethargy or hyperactivity, and noncompliance in children with autism spectrum disorders (ASDs). Quarantine or otherwise, the practices of is shown to optimize academic or creative engagement and improve learning abilities. (IANS)

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Researchers Identify 102 Genes Associated with Autism

It's critically important that families of children with and without autism participate in genetic studies because genetic discoveries are the primary means to understanding the molecular, cellular, and systems-level underpinnings of autism

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Autism
Researchers have discovered how a Genetic Alteration that increases the risk of developing Autism and Tourette's impairs brain communication. Pixabay

In the largest genetic sequencing study of autism spectrum disorder (ASD) to date, researchers have identified 102 genes associated with risk for autism.

The discovery shows significant progress towards teasing apart the genes associated with autism from those associated with intellectual disability and developmental delay, conditions which often overlap.

According to the World Health Organisation (WHO), one in 160 children has an autism spectrum disorder (ASD).

ASDs begin in childhood and tend to persist into adolescence and adulthood. In most cases the conditions are apparent during the first five years of life.

“This is a landmark study, both for its size and for the large international collaborative effort it required.

“With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches,” said Joseph D Buxbaum, Director of the Seaver Autism Center for Research and Treatment at Icahn School of Medicine at Mount Sinai.

For the study published in the journal Cell, an international team of researchers from more than 50 sites collected and analyzed more than 35,000 participant samples, including nearly 12,000 with ASD, the largest autism sequencing cohort to date.

Autism
Families of children with autism face high physical, mental and emotional burdens, are sometimes ridiculed and even accused of child abuse, says a new study. Pixabay

Using an enhanced analytic framework to integrate both rare, inherited genetic mutations and those occurring spontaneously when the egg or sperm are formed, researchers identified the 102 genes associated with ASD risk.

Of those genes, 49 were also associated with other developmental delays.

The larger sample size of this study enabled the research team to increase the number of genes associated with ASD from 65 in 2015 to 102 today.

In addition to identifying subsets of the 102 ASD-associated genes, the researchers showed that ASD genes impact brain development or function and that both types of disruptions can result in autism.

“Through our genetic analyses, we discovered that it’s not just one major class of cells implicated in autism, but rather that many disruptions in brain development and in neuronal function can lead to autism,” said Buxbaum.

Also Read: Vaping May not Help with Smoking Cessation: Report

It’s critically important that families of children with and without autism participate in genetic studies because genetic discoveries are the primary means to understanding the molecular, cellular, and systems-level underpinnings of autism.

“We now have specific, powerful tools that help us understand those underpinnings, and new drugs will be developed based on our newfound understanding of the molecular bases of autism,” the researchers noted. (IANS)