Thursday December 14, 2017

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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Bacterial infection in pregnancy may up autism risk in kids

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Bacterial infection in pregnancy may up autism risk in kids. Pixabay

New York, September 15, 2017: Babies born to mothers who experience a bacterial infection severe enough to require hospitalisation during pregnancy may be at higher risk of developing autism, a study has found.

The study, conducted on mice, revealed that the composition of bacterial populations in the mother’s digestive tract can influence whether maternal infection leads to repetitive behaviour and impaired sociability — autistic-like behaviours in offspring.

Further, irregularities that the researchers call “patches” are most common in a part of the brain known as “S1DZ” and were responsible for the behavioural abnormalities seen in mice.

“We identified a very discrete brain region that seems to be modulating all the behaviours associated with this particular model of neurodevelopmental disorder,” said Gloria Choi, Assistant Professor at Massachusetts Institute of Technology (MIT), in the paper appearing in the journal Nature.

A second study in the same jounal, revealed that not all mothers who experience severe infection end up having child with autism, and similarly not all the mice in the maternal inflammation model develop behavioural abnormalities.

“This suggests that inflammation during pregnancy is just one of the factors. It needs to work with additional factors to lead all the way to that outcome,” Choi said.

Moreover, the researchers found that only the offspring of mice with one specific type of harmless bacteria, known as segmented filamentous bacteria, had behavioural abnormalities and cortical patches.

When the researchers killed those bacteria with antibiotics, the mice produced normal offspring.

If validated in human studies, the findings could offer a possible way to reduce the risk of autism, which would involve blocking the function of certain strains of bacteria found in the maternal gut, the researchers noted. (IANS)

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Children with Autism can look Forward to Art therapy for Treatment

Discovering ways in which art therapy can help children who have Autism Spectrum Disorder: The results of a small scale survey

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Art Therapy for Autistic Children
Art Therapy for Autistic Children, pixabay
  • The estimates are- 1 in 68 children is diagnosed with Autism Spectrum Disorder by age 8 each year as per the Center for Disease Control and Prevention
  • Some of the best practices found out (which Art Therapists can work upon) after the survey was: use the same routine to begin each session, explain instructions in a consistent manner, spark curiosity to teach new skills and be aware of transitions between activities

Florida (US), July 28, 2017: A Researcher from Florida State University is working with art therapists in order to find better ways to treat children having Autism Spectrum Disorder (ASD). Autism spectrum disorder is the name for a group of the developmental disorder and includes a wide range, a spectrum of symptoms, skills, and levels of disability.

People with ASD often have these characteristics:

  • Ongoing social problems like difficulty in communicating and interacting with others
  • Repetitive behaviors and limited interests or activities
  • Symptoms that typically are recognized in the first two years of life
  • Symptoms that hurt the individual’s ability to function socially, at school or work, or other areas of life

Some people are mildly impaired by their symptoms, while others are severely disabled. Treatments and services can improve a person’s symptoms and ability to function. One such mode of treatment is Art Therapy, it promotes mental and emotional growth through art making. It is conducted with the aim of building life skills, addressing deficits and problem behaviors, and promoting healthy self-expression. Clients are encouraged to explore and express themselves using art materials

To Help People with Autism, Researchers Develop System to detect Sarcasm on Social Media

Theresa Van Lith, assistant professor of art therapy in FSU’s Department of Art Education, led a study that surveyed art therapists working with children with ASD to develop a clearer understanding of the techniques used and approaches. Van Lith said, “I had noticed that is there is a high number of art therapists working with people who have autism, but I wanted to understand what their words of wisdom were in terms of how they go about facilitating art therapy sessions.” She added, “We want to make it a transparent process for the client or the parents of a client, so they know what to expect.”

The estimates are- 1 in 68 children is diagnosed with Autism Spectrum Disorder by age 8 each year as per the Center for Disease Control and Prevention. As that population grows, more parents and educators are reaching out to art therapists to address social development and sensory issues that generally accompany ASD.

Creative Kids-Specific Activities organised to mark World Autism Awareness Day

The research team compiled the art therapists’ expert opinions and analyzed them. It was on topics like what worked with ASD clients, their objectives during a session, their most preferred theoretical approach and the considerations they had to make when working with children with ASD.

She realized that there wasn’t a consensus with the theoretical approaches they used.  “They had to use a number of theoretical approaches together, and we wanted to understand what that would be like in practice,” Van Lith said.

Though the survey results varied, the researchers were able to develop a set of guidelines for delivering art therapy to children who have ASD. The proposed guidelines will serve as a basis for successful practice for new art therapy professionals and also for further studies. Van Lith intended, “We used these practice wisdom from art therapists around the field to understand the most effective and beneficial way to use art therapy with child with ASD.”

Autistic child doing painting
An autistic child doing painting. Pixabay

Some of the best practices found out after the survey was: use the same routine to begin each session, explain instructions in a consistent manner, spark curiosity to teach new skills and be aware of transitions between activities.

The researchers also noted the aspects of practice that were found, not to be useful such as being overly directive or too loose with direction, using over stimulating art materials and forcing or being restrictive with communication styles. That’s important because sometimes there is the assumption of why can’t anyone do these techniques? People wonder why art therapy can’t be conducted in a much less formal situation. However, they don’t realize there are nuances in the way we (art therapists) deliver the art therapy directive — a lot of that is about knowing the client and the way a client responds to communication.

Based on these guidelines and consensus, Van Lith is rolling out a larger study to demonstrate the efficacy of that working model. “The idea is that, over time, we can build up the evidence that art therapy is effective for these children, and we can demonstrate the how and why,” said Van Lith said.

The ultimate goal will be- to educate art therapists about best practices as well as inform clients, parents, and teachers about possible benefits of art therapy for children with such medical condition.

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“When there will be more transparency, the clients will be able to appreciate or understand some of the changes that might be going on for them as they receive art therapy,” Van Lith said. They don’t want it to be a mysterious process for them.

Van Lith co-authored the study with Jessica Stallings, associate professor at Emporia State University, and FSU alumna Chelsea Harris, who practices at the Emory Autism Center. This study was published this month in the journal Arts in Psychotherapy.

– prepared by Kritika Dua of NewsGram. Twitter @DKritika08


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To Help People with Autism, Researchers Develop System to detect Sarcasm on Social Media

Based on machine translation, the new system, called Sarcasm SIGN (sarcasm Sentimental Interpretation GeNerator), turns sarcastic sentences into honest (non-sarcastic) ones

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Researchers Develop System to detect Sarcasm on Social Media. Pixabay
  • In order to teach the system to produce accurate interpretations, the researchers compiled a database of 3,000 sarcastic tweets
  • Based on machine translation, the new system, called Sarcasm SIGN (sarcasm Sentimental Interpretation GeNerator)
  • The system was examined by a number of (human) judges, who gave its interpretations high scores of fluency and adequacy

New York, June 24, 2017: To help people with autism, who often have difficulty interpreting sarcasm, irony and humour, researchers have developed a system for interpreting sarcastic statements posted on social media.

“There are a lot of systems designed to identify sarcasm, but this is the first that is able to interpret sarcasm in written text,” said Lotam Peled from Technion — Israel Institute of Technology.

“We hope in the future, it will help people with autism and Asperger’s,” Peled, who developed that system under the guidance of Assistant Professor Roi Reichart, added.

Based on machine translation, the new system, called Sarcasm SIGN (sarcasm Sentimental Interpretation GeNerator), turns sarcastic sentences into honest (non-sarcastic) ones.

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It will, for example, turn a sarcastic sentence such as, “The new ‘Fast and Furious’ movie is awesome. #sarcasm” into the honest sentence, “The new Fast and Furious movie is terrible.”

Despite the vast development in this field, and the successes of sentiment analysis applications on “social media intelligence,” existing applications do not know how to interpret sarcasm, where the writer writes the opposite of what he/she actually means.

In order to teach the system to produce accurate interpretations, the researchers compiled a database of 3,000 sarcastic tweets that were tagged with #sarcasm, where each tweet was interpreted into a non-sarcastic expression by five human experts.

In addition, the system was trained to identify words with strong sarcastic sentiments and to replace them with strong words that reveal the true meaning of the text.

The system was examined by a number of (human) judges, who gave its interpretations high scores of fluency and adequacy, agreeing that in most cases it produced a semantically and linguistically correct sentence, the American Technion Society (ATS) which provides critical support to the Technion – Israel Institute of Technology, said in a statement. (IANS)