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Boys at Greater Risk of Autism

boys-at-greater-risk-of-autismEquality amongst the sexes may be all the rage in modern times, but unfortunately discrimination between genders still remains a cornerstone of many medical conditions.

One such condition is Autism Spectrum Disorder (ASD), described as a range of pervasive developmental disorders including Autism, Asperger syndrome and other pervasive developmental disorder not otherwise specified (PDD-NOS).

This grouping of disorders are characterized by abnormal functioning before the age of three years in social interaction, communication and restricted or repetitive patterns of behaviour, interests and activities.

Although much has been learned about Autism Spectrum Disorder (ASD) in the last ten years, so much more still remains to be learned.

Parents and Courts alike have had to deal with the great level of uncertainty surrounding Autism Spectrum Disorder (ASD), its causes, its management, and its implications.

Recently however one more piece of the ASD puzzle has been uncovered by science. When is comes to ASD, boys are affected significantly more than girls, in fact up to four times more.

Many teams around the world have been working for many years to better understand ASD and what causes it. One team in particular, in their search for the genetic make-up that may cause ASD, have recently stumbled on a key genetic clue that may explain why this gender imbalance exists.

This group of international researchers led by The Hospital for Sick Children (SickKids) and McMaster University have analyzed the genes of more than 1,600 people with Autism Spectrum Disorder (ASD), and found a common defect within the SHANK1 gene.  The SHANK gene family is important in the formation and functioning of neural synapses in the brain. SHANK2 and SHANK3 genes have previously been linked to ASD and intellectual disability.

In this study, the investigators also identified an interesting development amongst six carriers of the SHANK1 mutation, who all came from the same family.

Of these six family members, four were male and two were female, and of most interest was that only the male carriers developed ASD, while the two female carriers did not develop ASD.

“This study indicates that there may be a protective factor preventing these female carriers from developing ASD”, said Dr. Stephen Scherer, Director of The Centre for Applied Genomics at SickKids and the McLaughlin Centre at the University of Toronto. “Now we have more insight as to why males could be more susceptible to ASD than females”.

Scherer says that if researchers can determine why SHANK1 females are being protected from ASD, then this “protective factor may one day be used to prevent or treat the disorder.”

The study is published in the April 12 advance online edition of The American Journal of Human Genetics.

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Posted by on April 13, 2012. Filed under Health. You can follow any responses to this entry through the RSS 2.0. You can leave a response or trackback to this entry

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