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Gene linked to autism discovered

Monday, 18 December 2006
Agençe France-Presse
Gene linked to autism discovered

Children suffering from autism often have trouble communicating with others. New research suggests that mutations in the SHANK3 gene may be responsible for the disease.

Credit: AFP

PARIS: A gene linked to autism, a mental disability that prevents sufferers from communicating and forming relationships normally, has been discovered by French researchers.

The study, published online on Sunday in the journal Nature Genetics, found that each of five autistic children studied had anomalies in the SHANK3 gene, which is responsible for making the connections in the brain necessary for language development.

The most distinctive symptoms of autism are problems with communication, including trouble forming relationships and the development of strong obsessions.

The study, done at the French Institut Pasteur showed "the key role of the gene in the organisation of neuron connections" in the brain, said lead researcher Thomas Bourgeron. "This gene, named SHANK3, does not explain all forms of autism," warned Bourgeron, but it might help explain the communication difficulties which provide major social obstacles to many sufferers.

The study sample included five people from three families, each suffering either from autism or Asperger's Syndrome. Asperger's Syndrome is an 'autistic spectrum disorder' (ASD) which shares most of the symptoms of autism, but with less-severe communication problems.

"It (ASD) affects about one child in 200 and four times more boys [than girls]," Bourgeron said of the lifelong disorders.

The study builds on 2003 research by Bourgeron's team, which identified anomalies on SHANK3, a gene that produces the proteins necessary to construct synapses - the junctions between the brain's neural pathways.

They discovered significant deletions in the gene's genetic code. One participant, who was autistic but had learned to talk, was found to have an extra copy of the gene.

Autism usually does not appear in infants before the age of three, though it can be diagnosed as early as 18 months. Children who suffer from it display impaired social skills and communications abilities throughout their lives, and their families bear a substantial financial and emotional burden in caring for them.

Global statistics on autism are limited, with figures appearing to show the disease on the rise. According to the Autism Society of America, 10 to 17 per cent more people are diagnosed with autism each year, but this may be partly due to increasing awareness and identification of the disease.

The U.S. Centre for Disease Control estimates that between one child in 166 and one in 500 may be diagnosed with a disorder on the autism spectrum.

The causes of autism remain mysterious. Years of research have gone into identifying a genetic cause.

U.S. autism researcher Bernard Rimland, who died in November, courted controversy by claiming that an increase in autism diagnoses might be caused by childhood vaccinations.

Research is increasingly addressing the idea that autism may be caused by a combination of genetic and environmental factors.

The research was conducted in conjunction with the Paris psychiatric services institute Inserm, and the University of Gothenberg in Sweden.

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Readers' comments

Aspergers Syndrome

I feel it is wrong to say that people with Asperger Syndrome are an emotional and financial burden on their families, as if that's all there is to them. Often they are highly intelligent people capable of contributing great things to society, if only people wouldn't judge them so harshly. Many go on to marry and have families and develop successful careers. They are not merely a burden on their families to be tolerated and patronized.

I am not a burden

I have aspergers, and I make 90k a year, and am successful. I may be a bit weird, but that doesn't mean I am a burden. 8-] oh, and I am female...

Please don't call yourself weird......

Who's to say what is weird and what is not? Who's to say what is normal and what is not? The world is afraid of what it doesn't understand. We are all unique in our own special way, autistic or not. Autism is a way of existing, it is not a disease and it is not a burden. Autism has brought many wonderful things to my family. Unfortunately, it is society that shadows those many wonderful things by it's on going sense of sinisism.
Mother of an autistic child.

What she means is that those

What she means is that those of us with Asperger's struggle in life because of differences in our brain which make us abnormal. Some differences can be very helpful in our capacity to do meticulous work, and our desire to organize and sort minutia. Other differences burden us, because we are limited in social capacity. Our inability to properly read social cues makes us extremely likely to inadvertently offend people in social situations. This is upsetting. We would not like to offend people. Pretending that we're "differently normal" does nothing to mitigate the serious damage to our careers and other relationships that unintentional offense does.

Keep the facts straight

The article didn't say that people with Asperger's Syndrome are an emotional and financial burden on their family. It says Autism is. I'm not entirely understanding the comments on here, because the article was mostly unbiased and the comments aren't on the main idea of it. People with traditional Autism can be a huge burden on any family. It's tough when you can't understand your child. That's not to say that all fall into the niche, but it's still a fairly accurate generalization. Sure, spiritually a person can get a lot out of living with someone who is autistic, but that doesn't mean it's not going to be taxing and a bit of a burden. That's just being unrealistic.

about that word....

I don't think that "burden" is the proper term to use. It fully depends on the family as to how they view the situation. I know several people in my life who have children with autism and other ASD's; few of them truely feel it a hinderance. True, it does makes things unsusal and sometimes difficult but few, if any, would call it a "burden". That word has such a negative connotation in our society, as does autism, but neither are warranted. Those who are diagnosed with autism or ASD are no more a burden than those with OCD or ADD (which incidentaly have been linked to be on the same spectrum as autism.) I'm not saying it isn't tough. I know it is. but to call those wo have autism or another ASD a "burden" is too extreme for my taste and suggests a wish t be free of such responsibility.

Autism/Aspergers Pervasive

Autism and Aspergers are Autism Spectrum Disorders which are one type of Pervasive Developmental Delay/Disability/Difference The point is that "it" Autism/Aspergers is pervasive which if you check your dictionary you will find means "having the quality or tendency to pervade or permeate" and pervade means "to be present throughout; permeate" therefore We are inseperable from our autism/aspergers. With that being said when one says Autism/Asperger's creates a financial burden or any other type of negative comment you are speaking about us becasue we cannot be separated from the Autism/Aspergers. I am the proud Autistic(Aspie Flavored) mom of 4(2 Aspie Flavored and 2 Kanner Cuties) kids diagnosed on the spectrum. None of them are a financial burden. What is a financial burden to most families is their incessant desire to "cure" their child. We have done only minimally supportive therapies for our children and my 7 year old non-verbal child has started talking in the past two weeks. We have been signing with him an differenced lately the neural branching of using music, written, spoken, and signing has linked with the part of his brain where his speech stopped 5 years ago. Now all the ABA in the world would not have accomplished that little miracle. Accepting his brain difference and understanding how neural branching is stimulated is why after 5 years of total silence he now is saying full sentences.

autism

autism is not a disease as has been mentioned! you cannot catch it! My 16 year old daughter is severely autistic and i can understand when the article said that they can put strain on families. Me and my other half have been under alot of stress with her. she pushes us too the limit.i have two other kids aswell. But we love them all dearly.

A gene has been found behind

A gene has been found behind autism, but it is only one small piece in a jigsaw puzzle, there are many genes involved, many environmental factors that influence the genes. They say autism and aspergers cases are on the increase around the world, this may be true, but note how messed up our world is by foolish ways of thinking, autistic people have a different way of thinking and a load of talents that would benefit mankind. Perhaps it is natures way of sending the humanrace a unique set of individuals to help mankind and this planet, do not write those on the autistic spectrum off, do not especially start creating schemes to destroy the babies who may have the genes of aspergers. Remember that Bill Gates brought us advances in information technology, Albert Einstein advanced scientific understanding (MC squared) and Temple Gradin taught us new ways of understanding animals, all these people are said to be on the autistic spectrum.

Autistics are a challenge for any person who deals with them, most of this is due to ignorance and prejudice. The world does not need to find a cure or make autistics "normal", for the sake of autistics and mankind you need to encourage these people to use their strengths to create advances in technology, culture and human thinking.

Ignorance

Autism is not a mental disability, it is purely neurobiological in nature. The real "problem" however is not called "autism", but "other people" ...