Researchers are looking for children with autism in the Inland Empire and Los Angeles/San Fernando Valley areas
By Sean Nealon On APRIL 26, 2012
RIVERSIDE, Calif. (www.ucr.edu) — A University of California, Riverside education professor is again recruiting children for a first-of-its-kind study that will assess how children with autism adapt to the early school years and identify predictors that will lead to a successful transition.
In a first round of recruiting, Jan Blacher, a professor and founding director of theSEARCH (Support, Education, Advocacy, Resources, Community, Hope) family autism research center at UC Riverside, and her team signed up 48 families. They are now looking to recruit an additional 50 families.
Blacher, along with Abbey Eisenhower, an assistant professor of psychology at the University of Massachusetts Boston, received the three-year, nearly $1.2 million grant from the Institute of Education Sciences, the research arm of the U.S. Department of Education. Their project, called “Smooth Sailing,” focuses on the essential ingredients of a successful transition from intensive early intervention, which most children with autism receive when they are first diagnosed, to the public school system.
Blacher and Eisenhower, along with their graduate students and staff, are recruiting children, ages 4 to 7 who have been diagnosed with autism or autism spectrum disorder, to take part in the study.
Blacher is recruiting children in the Inland Empire and Los Angeles/San Fernando Valley areas.
In the Inland Empire, after being screened for eligibility, parents and children will be invited to visit UC Riverside three times over 18 months.
In Los Angeles and the San Fernando Valley, after being screened for eligibility, parents and children will be invited to visit The Help Group campus in Sherman Oaks three times over 18 months.
During each visit in each location, children will be assessed on their academic skills, with a focus on language and literacy. Parents will also be interviewed to assess perceived school factors, such as quality learning opportunities and child engagement. In addition, parents and teachers will complete questionnaires to measure factors such as the child’s social skills and behavior, the parent’s involvement in school, and the student-teacher-relationship.
In return, parents and children will receive $150, an assessment summary after the first visit this fall, a parent-child DVD after the second visit in the spring and a developmental summary at the third visit during the following school year.
For more information about the Inland Empire evaluations, call SEARCH at 951-827-3849. For more information about the Los Angeles/San Fernando Valley evaluations, call SEARCH at 310-825-9592.
I wasn’t going to write about this today, for the simple reason that mothers on the Spectrum don’t need another stigma attached to them; many, if not all, mothers at some point after receiving the Autism diagnosis for their child unfairly wrack their brains with hundreds of ‘what if’s” they could have done to prevent Autism. This article does not help. In my opinion, it also does not answer any new questions; simply piggy-backs onto the new CDC Autism numbers. As the article states, “Although the study cannot prove that one condition causes the other, its authors, who published their results in the journal Pediatrics, caution that even the possibility is worrisome in light of rising U.S. obesity rates.”
Let me be clear here: I do not discount the recommendations this study makes; mothers should take all reasonable measures to be healthy and fit during their pregnancy due to the broad associations between maternal metabolic conditions and neurodevelopmental problems in children.
My main discrepancy with this study is its study design: this was not a randomized trial. This was a study in which the children were already enrolled in an Autism risk study. What does this mean? This means the researchers already knew their population more likely than not would have an Autism diagnosis. “Children aged 2 to 5 years (517 ASD, 172 DD, and 315 controls) were enrolled in the CHARGE (Childhood Autism Risks from Genetics and the Environment) study, a population-based, case-control investigation between January 2003 and June 2010. Eligible children were born in California, had parents who spoke English or Spanish, and were living with a biological parent in selected regions of California. Children’s diagnoses were confirmed by using standardized assessments.” Let’s face it: a parent would not enroll in an Autism study unless their child a) is diagnosed with Autism, b) displays Autism-like traits or c) has a significant history of Autism/Developmental Delay in their family. I also have a problem with using charged words like ‘obesity’ rather than addressing metabolic conditions as a whole in the reporting of these findings; my guess is that Diabetes or Hypertension do not have the same gravitas if you’re speaking to women.
I don’t refute this study; I am merely pointing out that the study design is convenient; a built-in population of Autistic kids being studied for every possible causal link. It would have been a more balanced article if they highlighted this fact of the study: of the 1004 children in the study (517 with ASD), only 111 were born to obese mothers; that’s 11%, which is a correlation, but not a direct cause and effect one.- Ed.
Mom’s obesity tied to kids’ autism, development
By Andrew M. Seaman
NEW YORK | Mon Apr 9, 2012 8:12am EDT
NEW YORK (Reuters Health) – A new study of mothers and children in California finds that kids born to obese women are more likely to be diagnosed with autism or related developmental delays than the children of slimmer moms.
The research, which was looking for effects on kids’ cognitive development from a variety of “metabolic conditions” in mom — including high blood pressure or diabetes — found the strongest links between obesity and autism-related disorders.
Researchers also found ties between the other maternal metabolic conditions and developmental delays in kids.
Although the study cannot prove that one condition causes the other, its authors, who published their results in the journal Pediatrics, caution that even the possibility is worrisome in light of rising U.S. obesity rates.
“If there is anything you can do to make yourself healthier, this is yet another reason for moms to consider,” said Paula Krakowiak, a researcher at the University of California, Davis, who led the study.
Krakowiak and her colleagues looked at 1004 children who were between two and five years old, born in California and already participating in a study underway at UC Davis.
Of those kids, 517 had an autism spectrum disorder and 172 had developmental delays. For Krakowiak’s study, the children’s diagnoses were confirmed by a reevaluation at the UC Davis MIND Institute.
Autism is attributed to atypical brain development and characterized by a group of symptoms that include problems with socialization, communication and behavior.
Milder versions of autism, such as Asperger’s syndrome and related conditions, form a “spectrum” of autism-related disorders. In addition, impairments in any one of the autism-related cognitive skill areas are considered developmental delays.
Among the kids in the study with an autism spectrum disorder, 48 were born to mothers with Type 2 or gestational diabetes, 111 to mothers who were obese and 148 to moms with any sort of metabolic condition, like high blood pressure.
For children with a developmental delay, 20 were born to mothers with Type 2 or gestational diabetes, 41 to mothers who were obese and 60 to moms with any sort of metabolic condition.
Overall, the connection between diabetes in a mother and her child being diagnosed with autism was not significant, but the researchers did find links between a mother being obese or having any other metabolic condition and her child having autism.
Developmental delays were associated with both obesity and diabetes, along with having any other metabolic condition.
“There is definitely an association present and it adds to the reasons for finding ways to lower obesity rates or diabetes rates and make greater efforts to change lifestyle factors,” said Krakowiak.
The new findings come on the heels of a report from the U.S. Centers for Disease Control and Prevention that estimated every one in 88 children in the U.S. has an autism spectrum disorder. That number represents about a 25 percent increase from the agency’s last report in 2006.
Meanwhile, Krakowiak and her colleagues note that nearly 60 percent of U.S. women of childbearing age (20-39 years) are overweight, one-third are obese and 16 percent have so-called metabolic syndrome — a constellation of symptoms, including high blood pressure and insulin resistance, that raise heart disease risk.
Although no one can say the nation’s rising obesity rate is to blame for the prevalence of autism, Krakowiak said the parallel increases did catch her attention.
“That was definitely one area that I took note of too. I knew obesity rates and diabetes rates were rising, and autism rates were too,” she said.
Hannah Gardener, an epidemiologist in the Department of Neurology at the University of Miami, told Reuters Health that she thinks it’s natural for people to draw a connection between the two rising rates.
“There is a lot that is unknown and studies like these really help us figure out the questions that need to be answered,” said Gardener, who has investigated risk factors for autism in the past.
But Gardener warns that she believes researchers are far away from understanding what might create a link between obesity and autism.
Krakowiak told Reuters Health there are a few theories, such as that vascular problems and an overabundance of inflammatory proteins in obesity, could be crucial in a baby’s brain development.
Regardless of how strong the association is or isn’t, Gardener said there is enough evidence to encourage moms-to-be to get healthy.
“Even though this association is far from being proven, there is plenty of evidence that obesity and insulin resistance can have health consequence for mothers and fetuses,” Gardener told Reuters Health.
SOURCE: bit.ly/HjQ8dI Pediatrics, online April 9, 2012.
Scientists find new links between autism and genetic mutations
(CBS News) Autism is still a mystery to many, but researchers have uncovered three gene mutations that may be linked to the disorder.
In three separate studies published April 4 in Nature, researchers examined children with sporadic autism, meaning the disorder does not run in their families. The studies found that mutations in the parts of genes that code for proteins played a significant role in the development of autism.
Studies have suggested a connection between genes and autism, HealthPop previously reported. These new studies merely untangle the mystery a little further.
The first of the Nature studies looked at 677 individuals from 209 families, each with one child with autism. The study found 126 de novo mutations – coming from neither parent – that were predicted to contribute to autism. The study also found that these mutations occurred four times more frequently in sperm than in egg cells. And the older the father, the more likely his sperm was to contain these mutations.
A second study, led by Yale University researchers, found that 14 percent of subjects with autism had genetic mutations at a rate of five times the normal rate. And, 39 percent of these mutations were found to affect a key pathway for communications in the brain.
The third study, led by Harvard Medical School and MIT‘s Broad Institute, looked at rates of de novo mutations in autism spectrum disorders. The study found that chance mutations play a modest role in the development of autism, providing small but important evidence of autism risk factors in those mutations.
Do the studies line up? Mutations in two genes – called CHD8 and KATNAl2 – may potentially be autism risk factors because they were found in more than one patient. “Almost never did we see lightning strike the same place twice,” Dr. Evan Eichler, one study author, told HealthDay.
The three studies combined offer solid clues toward solving the autism puzzle.
“We now have a path forward to capture a great part of the genetic variability in autism – even to the point of being able to predict how many mutations in coding regions of a gene would be needed to account for illness,” Dr. Thomas Lehner, chief of the NIMH Genomics Research Branch, which funded the Daly study and helped to create the Autism Sequencing Consortium, said in a news release. “These studies begin to tell a more comprehensive story about the molecular underpinnings of autism that integrates previously disparate pieces of evidence.
For decades, autism’s brain biology has remained a great mystery. We’ve known that there’s no single gene to point to as the culprit in all cases. We’ve known that autism is a complex disorder that presents differently among individuals. We have also known that most individuals with autism share a number of distinctive aspects of brain anatomy.
Ten years ago, my research team found evidence of brain overgrowth in many toddlers who developed autism. Just last year, we published a study showing that the larger brains of young children with autism have an excess number of brain cells, or neurons, in the part of the brain known as the frontal cortex. In the study we published today, we found clues to how this excess occurs.
Our study found dysfunction in several gene networks that may affect the number of neurons that are generated during the second trimester of pregnancy, when about 40 billion neurons are produced in the developing brain. We also found abnormality in gene networks that affect the number of neurons that survive through the second and third trimesters. Not all early neurons are meant to survive. Some play temporary roles during brain development and are supposed to die off when their job is done. In fact, “apoptosis” or naturally occurring cell death, is a normal and important part of prenatal brain development. By way of analogy, consider the scaffolding set up when constructing a building and then taken down once the building is finished. With autism, one possibility is that some of these “scaffolding” neurons remain. This may contribute to the excess of neurons and abnormal brain wiring.
These findings are exciting. We’ve known that something happens very, very early in the development of the brain: There are too many neurons in frontal brain regions. Now, we also know some of the genetic basis for this: abnormal gene activity in specific networks. This appears to rule out many speculations about post-natal causes of autism. Instead, it points strongly to prenatal events, at least in a majority of cases.
Importantly, this gives us hope that, one day, research will find ways to normalize gene activity and related neural growth and function. Normally frontal brain circuits are not fully formed at birth. They develop slowly across childhood. This provides a wide window of opportunity for intervention.
By knowing which gene networks are not operating correctly at the youngest ages, it may be possible to target these systems with biomedical interventions and improve outcomes. This is my hope and the reason why I pursue this research. But I also recognize this will be a complex and challenging road.
One of the most interesting findings in the study we published a decade ago was that the early brain overgrowth associated with autism was temporary. It involved accelerated brain growth during the first few years of life. Later in childhood, the growth of some brain regions affected by autism appears to slow considerably. What causes this change in brain growth trajectories in children with autism? This important question remains.
We also know that symptoms improve as some children with autism get older. So it is intriguing to see, in our new study, that by adulthood there is clear evidence of gene activity associated with remodeling, repair, immune response and signaling. I wonder if this means that, in children and adolescents who show clear improvement as they mature, there is a second stage of enhanced adaptive connections and a pruning back of earlier maladaptive connections and dysfunctional cells.
I think of this colloquially as a sort of “cleaning house.” The brain is getting rid of connections or cells that impede function. In these individuals, their brains may be able to modify and improve some of these neural pathways.
I do not know if this is the case. But our new evidence opens up this major new opportunity to better understand changes in brain genetic activity at all ages. It holds out promise of discovering age-relevant interventions that help individuals with autism across the lifespan.
This is what I find so exciting. I believe that, eventually, it will be possible to develop ways to foster both the growth of more appropriate cells and connections and a pruning away of unwanted excess. And I believe this may become possible at any age, not just early childhood. In better understanding the development of autism, we may be able to both develop medical interventions and improve our existing behavioral interventions.
What’s encouraging to me is that many excellent researchers in the field are also finding clues that point in the same direction. Together, we may just be able to open up new vistas for children and adults with autism.
Editor’s note: Read more about Dr. Courchesne’s study in our Science News column. Thanks to the families, volunteers and donors who helped make Dr. Courchesne’s research possible with an Autism Speaks research grant. Explore more of the studies we are funding with our website’s Grant Search.