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Saturday, August 1, 2015

(Worcester, MA) Researchers Seek Clues to Autism's Causes, Treatment

From the Worcester (MA) Telegram

By Susan Spencer
July 27, 2015

WORCESTER - Dr. Roula N. Choueiri, chief of the Division of Behavioral and Developmental Pediatrics at UMass Memorial Children's Medical Center, doesn't want toddlers to wait. Getting a diagnosis of autism confirmed and starting intervention as soon as possible can significantly reduce the severity of the disorder and improve a child's chances for healthy development.

Dr. Roula N. Choueiri works with an autism patient at
UMass Memorial Medical Center-University Campus.

But it can take months to get an appointment for an in-depth evaluation in the Worcester area and up to a year or more in Boston, Dr. Choueiri said. Parents and health care providers are more aware of autism now and there's less stigma associated with it, so more children than before are being referred.

"There aren't enough of us to do evaluations," Dr. Choueiri said. "Testing takes a long time."

Dr. Choueiri co-authored a study published last week in The Journal of Pediatrics, outlining a promising new tool for improving the early identification of autism in toddlers.

"We're the first line to early intervention and other services," she said, so early identification is important.

Dr. Choueiri and her colleagues developed the Rapid Interactive Screening Test for Autism in Toddlers, a brief second-level test given after an initial screen, which takes five to 10 minutes to administer and score, and can be used to accurately identify those toddlers with autism risk. So if the tool is validated in further studies, it could speed up access to treatment.

Children are currently diagnosed first in the primary care office with a screen such as the Modified Checklist for Autism in Toddlers. The MCHAT is highly predictive of developmental delays, but it overscreens for children with autism.

Only 54 percent of children who are referred now for a second-level screening end up with an autism diagnosis. The second-level tests being used can be cumbersome and aren't as accurate in toddlers younger than 2.

The search for better screening tools, better treatment and possibly even a cure for autism, a complex developmental disorder, has drawn the focus of researchers worldwide. In this third and final story in a series, "Piecing Together the Puzzle," we look at what is known about autism and what avenues of research show promise for future diagnosis and treatment.

Autism spectrum disorders are diagnosed in one in 68 children, including one in 42 boys and one in 189 girls, according to the U.S. Centers for Disease Control and Prevention. Autism is characterized by deficits in social communication skills and restricted, repetitive behaviors or interests. About 50 percent of persons with autism also have an intellectual disability. The annual cost of autism services in the United States is more than $200 billion, according to the Autism Society; but costs can be reduced by two-thirds with early diagnosis and intervention.

Some adults who are at the high-functioning end of the spectrum contend that autism shouldn't be eradicated but rather accepted as a difference in brain wiring, or "neurodiversity." Many more in the autism community, however, are fighting to overcome the often-debilitating social, behavioral and neurological deficits.

The shifting diagnostic criteria for autism, from being considered childhood schizophrenia until the 1980s, to encompassing in the 1990s what used to be considered mental retardation, at the low end, to social awkwardness, at the high end, have contributed to the debate.

"The best we know, there is a lot of passionately held falsehood in the community," said Dr. Steven E. Hyman, director of the Stanley Center for Psychiatric Research at the Broad Institute at Harvard and MIT in Cambridge and former director of the National Institute of Mental Health. "The truth is we don't actually know what is true."

Dr. Hyman said the skyrocketing prevalence of children diagnosed with autism, which nearly quadrupled since the 1990s, is "beclouded by the change in diagnosis and the motivation for diagnosis."

Besides the expanded definition in the Diagnostic and Statistical Manual of Mental Disorders in the 1990s, mandates for public special education services and the reduced stigma of autism following popular movies like "Rain Man" in 1988 and the TV show "The Big Bang Theory" made it easier — and more worthwhile — to get a diagnosis.

Some people attributed the rapid rise of autism to environmental factors, including childhood vaccines. A paper published in the British journal, the Lancet, in 1998 by Dr. Andrew Wakefield suggested a connection between the measles, mumps and rubella vaccine and developmental delays in 12 children.

The study was discredited after it was discovered the data were flawed and that Dr. Wakefield was working on a medical product-liability lawsuit, a clear conflict of interest. Lancet retracted the article in 2010 and Dr. Wakefield was removed from the medical register. But the belief still has a following.

Numerous studies conducted in the U.S. and Europe have found no association between the MMR vaccine and autism, whether or not it was administered with the mercury-containing preservative thimerosal, according to the American Academy of Pediatrics. In three separate rulings in 2009, the Special Masters of the U.S. Court of Federal Claims, as part of an Omnibus Autism Proceeding convened to handle the nearly 5,000 claims that vaccines induced autism, ruled the vaccines were not a causal factor in the development of autism spectrum disorders.

What is known, Dr. Hyman said, is, "autism is among the most heritable common human disorders," with 65 to 80 percent attributable to genetics, based on studies of twins. Researchers are trying to untangle exactly how the genetic variations add up and are triggered by some unknown environmental stressor or luck to result in autism.

Only about 3 to 5 percent of children with the most severe form of autism are found to have a tell-tale genetic mutation. For the rest, it's a series of factors piling up.

Researchers are looking at single-gene interventions that might hold promise for treatment, but so far the studies have not succeeded in humans.

"But at least the genetics is beginning to give us insight into the disorder," Dr. Hyman said. He said most of the treatment advances now are in behavioral, not medical, interventions.

At the University of Massachusetts Medical School's Eunice Kennedy Shriver Center, "the research efforts are really geared toward facilitating diagnosis and enhancing quality of life for individuals on the spectrum," said Dr. Jean A. Frazier, a child psychiatrist and medical director of the Center for Autism and Neurodevelopmental Disorders, which is the clinical program of the Shriver Center, a joint effort between UMass Medical School and UMass Memorial Medical Center.

Research being conducted through the Shriver Center includes overcoming cultural barriers during developmental screenings and referrals, identifying why some people with autism don't respond to behavioral therapies, developing online courses for dental professionals to meet the needs of people with developmental disabilities, and investigating evidence-based solutions for the higher rate of obesity seen among people on the autism spectrum.

Dr. Frazier said that advances are being made at the intersection of behavioral/cognitive deficits and biological indicators. A study published this year by UMass researchers and others in the Journal of Child and Adolescent Psychopharmacology found through proton magnetic resonance spectroscopy that imbalances in neurotransmitters — brain chemicals — were associated with social cognition deficits in adolescents with autism.

"Our interest is really in looking at biomarkers that will be helpful to us around diagnosis or the core deficits seen in autism," Dr. Frazier said.

With all the progress being made in identification and treatment of autism, some speak of the possibility of a cure.

Dr. Choueiri said that some children diagnosed with autism, perhaps 15 to 20 percent, lose their diagnosis as they grow, particularly if they received intensive behavioral therapy as toddlers.

"Clinically, I've seen kids that I've diagnosed that don't meet criteria growing up," she said.

Mary C. Romaniec of Grafton, a reporter and advocate who coordinates the Massachusetts chapter of Talk About Curing Autism, emphasized, "There's a difference between recovery and cure."

Ms. Romaniec's 16-year-old son, Daniel, was diagnosed with severe autism symptoms at 18 months. He banged his head to the point of chipping teeth, was nonverbal and had stomach pain and diarrhea.

Through their research and connecting with other parents and physicians, the Romaniecs treated Daniel with a gluten-free and casein-free diet, eliminating most grains and dairy products; 19 monthly infusions of intravenous immunoglobulin; and behavioral therapy. Ms. Romaniec said by age 4 Daniel was "completely asymptomatic." But he still follows the diet to maintain his health.

The Romaniecs are not alone in their approach. A 2014 study conducted by researchers at the University of California at Davis found that nearly 40 percent of 453 children with autism, ages 2 to 5, were receiving complementary and alternative treatments, often on top of mainstream behavioral therapy. Most alternative therapies were unproven but relatively harmless, such as dietary interventions and supplements, according to the researchers. But up to 4 percent were using invasive, potentially risky treatments including intravenous injections and chelation.

Paul Wang, Autism Speaks senior vice president for medical research, posted on the advocacy group's website: “Since CAM (complementary and alternative medicine) is used so widely, health care providers need to ask families about its use. They need to invite an open discussion of risks and benefits.”

"It's a heterogeneous diagnosis," Dr. Frazier said. The challenge for researchers is to find out what therapy works best for whom.

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