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Autism: A Rare Developmental Disorder That Has Metamorphosed Into an ‘Urgent Health Concern’

Posted on December 29, 2009

Article by Snigdha Taduri for Biomed-ME

“Helplessly I sit while Mom calls me to come. I know what I must do, but often I can’t get up until she says, ‘Stand up’. The knack of knowing where my body is does not come easy for me. Interestingly I do not know if I am sitting or standing. I am not aware of my body unless it is touching something … Your hand on mine lets me know where my hand is. Jarring my legs by walking tells me I am alive.”

This is the heart wrenching narration of Chandima Rajapatirana, an autistic writer from Potomac, Md., – a narration that provides insight into the silent mind of an autistic individual. Child autism is a brain disorder that often results in a lifetime of impaired thinking, feeling, and social functioning. They have no language, no eye contact and often feel like the only person alive in their world, without being aware of other people around them- even their closest. With no speech and an I.Q of less than 30, autistics often spend their days endlessly engaged in repetitive activities such as spinning plates, rocking, and flapping hands in front of their face. They live in a world of their own.

Autism is a group of developmental disorders, also called Autism Spectrum Disorders (ASD’s), and has an estimated one in 110 children falling along the line of this spectrum- a whopping increase when compared to the 2002 estimate of 1 in 150 children.  This present estimate has led to the Centre for Disease Control labelling the condition an ‘urgent health concern’. Four to five times as many boys are diagnosed, with 1 in 70 boys and 1 in 315 girls diagnosed with autism, according to the Centre for Disease Control’s new numbers. ASD is a collection of neurological conditions whose symptoms may range from mild social impairment (Asperger syndrome) to more serious communication, language and cognitive deficits.

Autism was first detected 60 years ago by an American psychiatrist, Leo Kanner; however, even today questions about this complex disorder loom large in the minds of scientists. Lack of clarity on its causes, and the reasons for its alarming increase in the U.S., Japan, England, Denmark and France, are still being probed by researchers. One plausible explanation for this rise in incidence could be attributed to growing awareness and widespread screening at 18 and 24 months, as recommended by the American Academy of Pediatrics. Ten years ago, autism was rarely detected before ages 3 or 4, but current screening practices are enabling identification of toddlers as well.

Is this reason enough to justify the soaring numbers? Probably not! According to Dr. Thomas Insel, Director of the National Institute of Mental Health and chair of the NIH’s interagency autism coordinating committee, “When you see an increase like this, you have to think it’s an environmental issue.” Scientists also believe that autism stems during pregnancy or during the months immediately following birth, with advanced maternal age or exposure to certain behavioural and environmental factors the mother or her newborn baby may experience, promoting  the development of ASD. “There is so much stuff out there, whether it is diet or infection,” says Dr. Gary Goldstein, president of the Kennedy Krieger Institute in Baltimore. “We could make a list but it’s got thousands of things on it.”

Genetic influences that lead to autism cannot be ruled out. An identical twin of a child with autism has a 60% to 90% chance of also being affected. Gene scientists working on autism have found suspicious spots on chromosomes 2, 5, 7, 11 and 17. In the Middle East, the culture of marrying relatives (consanguinity) can very well be a cause for promoting these autistic genes. “We think there are a number of different autisms, each of which could have a different cause and different genes involved,” says David Amaral, research director of the MIND (Medical Investigation of Neurodevelopmental Disorders) Institute.

On going research trials by Amaral and colleague Judy Van de Water show strong prospect of discovering the origins of at least one type of autism — a strongly familial variety. According to their results, blood of kids from families with a pattern of ASD carry aberrant antibodies, which are thought to alter brain development in ways that lead to autism. If correct, the finding could lead to a maternal blood test and the use of a therapy called plasmapheresis to clear antibodies from the mother’s blood. “You get a sense of the excitement,” says Amaral, “if you could prevent, say, 20% of kids from getting autism. But we don’t want to raise false hopes.”

But for all the emphasis on early detection, very little research exists on how to intervene effectively for children so young. While research on the causes of autism is still underway, the current scenario treats autism as a significant public health concern and demands urgent attention be drawn to aggressively research treatment options, as well as better support families caring for autistic children. “We are really seeing exciting things happening, but the pace is too slow, it just doesn’t measure up to the size of the crisis,” says Geraldine Dawson, chief scientific officer of Autism Speaks, a leading autism advocacy group.

Contrary to the thumb rule that autism is a lifelong impairment, special methods of interacting with these children have shown improvement in cognitive responses. Repetitive behaviours, classically seen in autistic kids, offer some predictability in a world that seems “incredibly unpredictable” to them. Instead of trying to correct autism as misbehaviour that needs force to guide the child into a world he doesn’t understand,  joining their world first has shown to get past those silent years and offer the first step towards a life of normalcy.

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