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Tuesday, May 8th

 

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Clues To Autism:

Genetic Mutations And The Age

Of The Father

 

by Alice G. Walton, Contributor

Forbes.com

April 6, 2012 

 

This week, three new studies have found some revealing links between certain gene mutations and the development of autism. One even showed a strong connection between the age of the father, more than the mother, and the spontaneous mutations that are linked to autism. Still, it’s important to keep in mind that the genes indicated in these studies only account for a small percentage of the number of kids with autism – and it is this very fact that may tell us as much about the disorder as finding the genes involved.

 

The studies, all released in the journal Nature, looked at the genes of families in which the parents did not have ASD but their child did. This means that there was no long genetic history of autism, so if gene mutations were involved, they were probably due to de novo mutations – those that occur spontaneously, around the time of conception.

 

Mutations in the part of the gene called the exome – encoding for proteins – were found to be connected to the development of autism spectrum disorder (ASD). Usually these mutations aren’t a big deal, since they can often occur in non-critical pieces of DNA. But when they occur in other locations – in sqeuences of DNA related to the development of a tiny brain – then these mutations can be serious.

 

“These results confirm that it’s not the size of the genetic anomaly that confers risk, but its location,” said Dr. Thomas Insel, director of the National Institute of Mental Health (NIMH).

 

Another important finding was the raw number of genes implicated in playing a role in autism development: One of the authors, Joseph Buxbaum, estimated that anywhere from 600-1,200 genes could be involved in ASD. “We now have a good sense of the large number of genes involved in autism,” Buxbaum said.

 

But where and how are these spontaneous mutations are occurring – and from which parent’s genes? One one of the studies discovered that the mutations happened at four times the rate in sperm cells as in egg cells. Sperm cells are produced in vast quantities – hundreds of millions per day – which increases the odds of manufacturing errors. And as men age, the chances for genetic errors just go up. If the errors occur in areas of the gene important in brain function, the chance of autism might also increase. Previous studies have found connections between paternal age and having a child on the autism spectrum, and the new results do a lot to explain this trend.

 

The odds of genetic mutations occurring spontaneously are extremely rare, and specific mutations are only thought to account for about 10% of all cases of ASD. Once more connections are mapped out, genes could explain as many as 15-20% of cases, but still, number is only a fraction of the whole picture. Given the fact that ASD is truly a spectrum, it seems more likely that researchers will begin to understand the separate factors that contribute more or less to the different variants and shades of ASD. In the future, the spectrum may be discovered to be many different types of disorder that are linked in certain underlying ways. What these are, of course, is still eluding researchers, but this study is a good step in providing another small piece to the puzzle.

 

Gluten Free Recipe:

Peach & Raspberry Claufoutis

 

 

Clafoutis, sometimes called clafouti, is a simple fresh fruit dessert originating in the French Province of Limousin. Clafoutis is a hard dish to categorize- although traditionally called a pudding, made with fresh cherries, it looks like a pie, exploding with glorious color.

 

Prep Time: 15 minutes

Cook Time: 45 minutes 

Total Time: 1 hour

 

Ingredients:

 

  • 3 tablespoons unsalted butter OR your favorite dairy free butter substitute
  • 1 1/2 cups fresh, peeled, sliced peaches
  • 2 cups fresh raspberries
  • 3 large eggs
  • 1 cup milk OR dairy substitute ( I used light organic canned coconut milk)
  • 2 tablespoons Chambord (or mix 1 1/2 tablespoons raspberry jam with 1/2 tablespoon water)
  • 3/4 cup sugar
  • 2 teaspoons vanilla extract
  • 1/4 cup white rice flour
  • 1/4 cup tapioca starch
  • 1/8 cup amaranth flour OR sorghum flour OR light buckwheat flour
  • 1/8 cup potato starch (not flour)
  • 1/4 teaspoon guar gum
  • 1/4 teaspoon salt

Preparation: 

 

Preheat oven to 375°

  1. Place butter in a 10-inch, deep dish pie plate and put in preheated oven. Remove when butter has melted.
  2. Sift white rice flour, tapioca starch, amaranth, potato starch and salt into a medium size bowl. Whisk to thoroughly blend.
  3. Place eggs, milk, Chambord, 1/2 cupsugar, vanilla and blended gluten free flour mix in a blender and process until a smooth, thin batter forms.
  4. Use a pastry brush to spread the melted butter on the bottom and sides of the pie plate and pour the batter over the melted butter.
  5. Scatter the fresh, sliced peaches evenly in the batter, then the raspberries. Use a spatula to push the fruit down, into the batter.
  6. Sprinkle the remaining 1/4 cup sugar over the top of the clafoutis.
  7. Bake for 45 minutes or until the top is golden brown.

Serve warm with fresh whipped cream. Serves 6-8

 

Always make sure your work surfaces, utensils, pans and tools are free of gluten. Always read product labels. Manufacturers can change product formulations without notice. When in doubt, do not buy or use a product before contacting the manufacturer for verification that the product is free of gluten.

 

by Teri Lee Gruss

Doctors want to redefine autism; parents worried

by Lindsey Tanner

AP Medical Writer

April 05, 2012

One child doesn’t talk, rocks rhythmically back and forth and stares at clothes spinning in the dryer. Another has no trouble talking but is obsessed with trains, methodically naming every station in his state.

 

Autistic kids like these hate change, but a big one is looming.

 

For the first time in nearly two decades, experts want to rewrite the definition of autism. Some parents fear that if the definition is narrowed, their children may lose out on special therapies.

 

For years, different autism-related labels have been used, the best known being Asperger’s disorder. The doctors working on the new definition want to eliminate separate terms like that one and lump them all into an “autism spectrum disorder’’ category.

 

Some specialists contend the proposal will exclude as many as 40 percent of kids now considered autistic. Parents of mildly affected children worry their kids will be left out and lose access to academic and behavioral services — and any chance of a normal life.

 

But doctors on the American Psychiatric Association panel that has proposed the changes say none of that would happen.

 

They maintain the revision is needed to dump confusing labels and clarify that autism can involve a range of symptoms from mild to severe. They say it will be easier to diagnose kids and ensure that those with true autism receive the same diagnosis.

 

With new government data last week suggesting more kids than ever in the U.S. — 1 in 88 — have autism, the new definition may help clarify whether the rising numbers reflect a true increase in autism or overdiagnosis by doctors.

 

There is no definitive test for autism. The diagnosis that has been used for at least 18 years covers children who once were called mentally retarded, as well as some who might have merely been considered quirky or odd. Today, some children diagnosed with autism may no longer fit the definition when they mature.

 

“We’re wanting to use this opportunity to get this diagnosis right,’’ said Dr. Bryan King, a member of the revision panel and director of the autism center at Seattle Children’s Hospital.

 

The revision is among dozens of changes proposed for an update of the psychiatric association’s reference manual, widely used for diagnosing mental illnesses. The more than 10,000 comments the group has received for the update mostly involve the autism proposal, with concerns voiced by doctors, researchers, families and advocacy groups. A spokeswoman declined to say whether most support or oppose the autism revision.

 

The group’s board of trustees is expected to vote on the proposals in December, and the updated manual is to be published next year.

 

Among the proposed changes:

 

— A new “autism spectrum disorder’’ category would be created, describing symptoms that generally appear before age 3. It would encompass children with “autistic disorder,’’ now used for severe cases, plus those with two high-functioning variations.

A diagnosis would require three types of communication problems, including limited or no conversation and poor social skills; and at least two repetitive behaviors or unusual, limited interests, including arm-flapping, tiptoe-walking and obsession with quirky topics.

 

— Autistic disorder and high-functioning variations — Asperger’s disorder and PDD-NOS, or “pervasive developmental disorder not otherwise specified’’ — would be eliminated, but their symptoms would be covered under the new category.

 

Asperger’s kids often have vast knowledge about a quirky subject but poor social skills; PDD-NOS is notoriously ill-defined and sometimes given to kids considered mildly autistic.

 

— Another new category, “social communication disorder,’’ would include children who relate poorly to others and have trouble reading facial expressions and body language. A small percentage of children now labeled with PDD-NOS would fit more accurately into this diagnosis, autism panel members say.

 

They say the changes make scientific sense and are based on recent research.

 

Opponents include older kids and adults with Asperger’s who embrace their quirkiness and don’t want to be lumped in with more severe autism, and parents like Kelly Andrus of Lewisville, Texas. Her son, Bradley, was diagnosed with mild autism a year ago, at age 2.

 

“I’m really afraid we’d be pushed out of the services we get,’’ she said. That includes a free preschool program for autistic kids and speech and occupational therapy, which cost her $50 a week. The family has no medical insurance.

 

Opponents also include a well-known Yale University autism researcher, Dr. Fred Volkmar, who was on the revision panel but says he was unhappy with the process and quit. “I want to be sure we’re not going to leave some kids out in the cold,’’ he said.

 

Volkmar is senior author of a study suggesting that the revision would exclude nearly 40 percent of children with true autism. But members of the revision panel have challenged Volkmar’s methods, saying he relied on outdated data from two decades ago.

 

One major advocacy group in the field, Autism Speaks, said it is awaiting further research on the effects of the revisions before deciding whether to endorse them.

 

Dr. James Harris, a panel member and founding director of the developmental neuropsychiatry program at Johns Hopkins University, said the proposal will provide a better label for children who really only have communication problems.

 

“I don’t want a child labeled as autistic, which suggests a chronic, lifelong problem, when he has a social communication problem that may get better if he has proper services and his brain matures,’’ Harris said.

 

Harris said these kids don’t need intensive autism therapy but should be eligible for other types of special education typically offered in public schools.

Dr. Daniel Coury, chief of developmental and behavioral pediatrics at Nationwide Children’s Hospital in Columbus, Ohio, said parents have valid concerns because insurance companies and schools may not immediately recognize that children receiving the new diagnosis may need special services.

 

“So there may potentially be a lag time where services would not be available,’’ he said.

 

He noted it is already difficult for many families to get costly autism therapy. Some insurers don’t cover it, and many financially strapped school districts have cut special education.

Did You Know?

 

SIRRI offers these services for both children & adults:

  • Neurofeedback & Biofeedback
  • qEEG / Brain Mapping
  • Cognitive Retraining: memory, processing & problem solving skills
  • Attention, Concentration & Focus Training
  • Auditory & Visual Processing
  • Reading Development: fluency & comprehension
  • Balance, Coordination & Motor Planning Development
  • Stress & Anxiety Management
  • IEP Advocacy

Summer Session Dates

for the Sensory Learning Program

  

Monday, May 14 through Friday, May 25

 

Monday, June 4 through Friday, June 15


Monday, June 18 through Friday, June 29

 

Monday, July 9 through Friday, July 20

 

Monday, July 23 through Friday, August 3

 

SIRRI Arizona • 4515 S. McClintock Drive, Suite 208 • Tempe, AZ 85282
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