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News

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.

Readers' comments

My Baby Boy

My son is Autistic and now 9 years old. We have been on this emotional roller coster and it is not easy. What is hard about autism is that people watch and point when we are in public because of his behavior. When that happens I tell them about autism and inform people about this helpless problem. It is also very hard on my family mentally and physcially.

Autism

To all of you who have a child with autism spectrum disorder and family members. My son is also Autistic he is 14yrs old and as any of you know being a teenager is hard by itself, however, it makes it even more difficult when you have an autistic child who is going through changes. I read all the comments that are posted on this site and I do feel you all feel that children/adult with autism spectrum disorder are very loved and a joy to have but don't fool yourself as a parent it's harder, more frustrating, disheartening, then with any "typical child" and to be honest I feel sad to know that my son who might never experience a meaningful relationship like I have with my husband or girlfriend/boyfriend.

Don't feel sad for us

I have Asperger's, so entering into a romantic relationship would be hard for me. I would like to be in a relationship, but it isn't the end of the world. The fact that I may never get a date isn't sad. What's sad is that people like you think it's sad. There are many people who don't end up in relationships for a variety of reasons. Do you feel sad for celibate monks? Attitudes like yours make ME sad.

my boy

My son too has autism he is 5 we have worked and worked with him but it is a up hill battle! I want to help him as much as I can I always want to do more I am scared about what the future holds for us. Is there someone who has autism that can say what they would of enjoyed the people around them to do diffrently.

A World filled with Beauty

Please don't insult the minds of geniuses just because they see the world differently! Let them speak and you'll know the truth!

Ryan

My son is 5 we have tried to do everything for him the reality is I just don't understand him is there anyone with autism who reads this that can help. I just want to do the best I can for him, and he can't tell me what he wants and seems to hardly understand me. If I could just get in his mind for a minute and see how he sees the world I could understand how to help him.

Yes I can

Just e-mail me
spydyee@gmail.com
I am the Proud Autistic Mom of 5 kids diagnosed on the Autism Spectrum. I just found your post. If I can help you I will.

what we get from early 'medication'

I live in Indonesia. My brother was diagnosed as autistic when he was 4 years old, where I was still in junior high the same time.
my parent went through hard times, where they had to go for check up every 3 months to a hospital in other city, putting him into special therapy preschool session,some acupuncture,etc. Now he's 10 years old, studying in normal school, communicate normally, and almost all autistic symptoms has gone.
He likes histories, top 3 ranks in his class,he loves writing and drawing,though what he write is sometime hard to understand. but so far he's a witty,angel-hearted funny boy I love to hang out with.
Thank God he's already calmed down in early ages, cause I've seen autistic teens with worse condition.

Developmental Disorders

Both autism and asbergers are developmental disorders and are tied to biases in the brain chemical reward system. So those afflicted tend to be able to self stimulate, zone out and get the brain chemicals flowing without external stimulus. In fact external stimuli often disrupt their reward system and just like drug addicts reflects badly in their behaviour. Now as the occurs from birth it disrupts the development of many areas of the brain, as the sufferers basically focus in on those areas that give them the highest rewards. When your a big thinker, your not solving the worlds problems because it is important, your doing it because it feels really, really good to spend, hours, days or even weeks pondering the solutions.