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According to two major genetic studies done on autism, it was revealed that rare mutations in more than 100 genes are the key factors that affect networks in the brain resulting in the syndrome. The study was conducted by scientists at the University of California. Sixty of these genes met a 'high-confidence' threshold indicating that there is a greater than 90 percent chance that mutations in those genes contribute to autism risk. (Read: Understanding autism its causes, symptoms and treatment)
The majority of the mutations identified in the new studies are de novo (Latin for afresh) mutations, meaning they are not present in unaffected parents' genomes but arise spontaneously in a single sperm or egg cell just prior to the conception of a child. 'Before these studies, only 11 autism genes had been identified with high confidence, and we have now more than quadrupled that number,' said Stephan Sanders, assistant professor of psychiatry at the University of California, San Francisco (UCSF) in the US. (Read: Alternative approaches to autism in children)
Based on recent trends, gene discovery will continue at a quickening pace, with as many as 1,000 genes ultimately associated with autism risk, Sanders estimated. 'There has been a lot of concern that 1,000 genes means 1,000 different treatments, but I think the news is much brighter than that,' said Matthew State, professor in psychiatry at UCSF. 'There is already strong evidence that these mutations converge on a much smaller number of key biological functions. We now need to focus on these points of convergence to begin to develop novel treatments,' State added. (Read: 6 tips for parents to deal with autistic children)
The large research teams behind each of the two new studies used a form of next-generation sequencing (NGS) known as 'whole-exome' sequencing, a letter-by-letter analysis of just the portion of the genome that encodes proteins. 'That we now have a bounty of dozens of genes, and a clear path forward to find perhaps hundreds more, provides an incredible foundation for understanding the biology of autism and finding new treatments,' State concluded. The studies appeared online in the journal Nature. (Read: Treating autism therapies and treatments)
Here are some misconceptions about children with autism busted
Autism misconception #1: All children with autism have savant-like abilities
Some children with autism have savant-like abilities. Most do not. Some people who don t have autism have savant-like abilities. Most do not. Savants are rare, period. Many parents of children with autism resign themselves to fighting this fallacy with weary humour. When asked yet again about their child s special gift, they reply, Eating toilet paper or Hoarding batteries.
Autism misconception #2: A child s meltdowns and anxiety attacks are intentional or manipulative
Sensory overload, frustration, anger, persecution, fear, sleep deprivation, hunger, pain for the child with autism, meltdowns always have a physiological or emotional source, and never come out of the blue. Not only are there numerous organic reasons why he might melt down, but the notion that he manufactures such distress to get the adults around him assumes a level of intent unlikely to be present in a child with autism.
Autism misconception #3:A child who is non-verbal has nothing to say
If someone taped your mouth shut and took away your communication devices, would that mean you have nothing to say? Or would you have your same thoughts, needs, wants and fears but no way to express them? All humans need a functional means of communication. We ve designated speech as our gold standard of interpersonal communication, the emphasis on using our words so dominant that when children attempt to communicate nonverbally, we often don t heed it. Yet words are only a small part of interpersonal communication. We communicate through the nuance , tone, inflection, pitch, speed and volume of our speech, through body language, facial expressions and emotional responses. It s incumbent on us to listen to all the ways our kids are trying to communicate. Read more about 10 misconceptions about children with autism busted!
With inputs from IANS
Image Source: Getty Images
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