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x U-M begins landmark study of toddlers with autism x
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Research Posted by lightfoot on Wednesday, February 06, 2008 (16:52:57)

29/1/2008

ANN ARBOR, Mich.—Autism researchers at the University of Michigan, the University of California-Davis and the University of Washington have been awarded a $15.3 million grant to determine the impact of intervening with toddlers age 2 and younger as part of the NIH Autism Centers of Excellence Networks.

The five-year study is the first multi-site, randomized trial funded by the National Institutes of Health to determine if such efforts can reduce--or cir*****vent altogether—the language impairments and social deficits associated with the developmental disorder.

Researchers will also determine the behavioral factors that help predict whether a child will respond well to this early treatment.

Catherine Lord, U-M professor of psychology, psychiatry and pediatrics, and director of the U-M Autism and Communication Disorders Center, will collaborate with UC Davis M.I.N.D. Institute researcher Sally J. Rogers and University of Washington Autism Center researchers.

"We very much need to better understand how early intervention works and what interventions work best," Lord said. "Participating in the study allows us to provide high-quality service to families free of charge and to learn more about how to carry out the most effective treatments of autism in young children."

Lord is confident U-M research will make it routine to diagnose autism for children just 18 months old and sometimes even younger.
The intervention to be tested—the Early Start Denver Model—fuses developmental and relationship-based intervention techniques with applied behavior analysis teaching strategies. It focuses on using play and positive reciprocal interactions to teach a developmental curriculum designed for each child based on current abilities and interests. The individualized approach makes the model easy to adapt for younger children.

A combination of the developmental curriculum, teaching techniques based on applied behavior analysis, and warm, engaging social exchanges between an adult and the child is used to achieve measurable treatment goals targeting affective connection, social relatedness and communication skills.

"Development changes over time, and missing a particular marker or having one or more of the 'red flags' does not necessarily mean that a child has autism," said Rogers, professor of psychiatry and behavioral sciences with the UC Davis M.I.N.D. Institute. "However, it is beneficial to any child—whether or not he or she has autism—to receive help in catching up with missed or delayed developmental milestones."

Children enrolled in the study will receive intensive, one-on-one intervention in their homes for more than 25 hours per week over two years, and caregivers will be instructed on how to deliver the intervention themselves.

Results will be compared to children of the same age receiving standard community services to determine the efficacy of the Early Start Denver Model at measurably reducing some or much of the disability associated with autism.

"There is very little published about the effectiveness of any intervention model for children in treatment earlier than age 2. However there are some very promising results from a feasibility study that is being conducted at the University of Washington," said Rogers. "With this new funding, we can broaden that study and truly provide a real test of the effectiveness of this type of interventional approach for very young children with autism."

Together, the three study sites will recruit a total of 108 children approximately 12-24 months old who have symptoms of autism.

Typical red flags in social communication skill development between the ages of 1 and 2 indicating that a child may have an autism spectrum disorder include:

--Lack or loss of typical behaviors, such as pointing, playing with a variety of toys, responses to contextual cues, vocalizations with consonants.

--The presence of atypical behaviors, such as repetitive movements with objects and/or repetitive movements or posturing of the body.

--Unusual prosody (intonation and rhythm in speech).

--Lack of pointing, showing and sharing objects with others.

--Lack of appropriate gaze.

--Lack of sharing interest or enjoyment.

--Lack of response to name.

--Lack of coordinating gestures, eye contact and vocalizations to communicate.


University of Michigan - News


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x HOPKINS TEAM IDENTIFIES AUTISM SUSCEPTIBILITY GENE x
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Research Posted by lightfoot on Wednesday, February 06, 2008 (16:49:54)

Researchers at Johns Hopkins have identified a common genetic alteration that appears to be associated with autism only when inherited by sons from their mother. The CNTNAP2 gene, also identified by two other groups publishing jointly in the January issue of The American Journal of Human Genetics, is one of the strongest common genetic links to autism susceptibility found to date.

“While there probably are other, yet unidentified gene variants that also contribute to autism susceptibility, our data clearly show that CNTNAP2 is associated with an increased risk and an excellent entry into further study for understanding autism,” says Aravinda Chakravarti, Ph.D., professor of medicine, pediatrics and molecular biology and genetics and member of the McKusick-Nathans Institute of Genetic Medicine at Hopkins.

Using samples collected by the National Institute of Mental Health Autism Genetics Initiative, the Hopkins team analyzed genetic material from 72 families, each having two or three affected children who were diagnosed before 36 months of age by the most stringent clinical classification of autism disorder.

“We initially limited ourselves to the samples with the strictest definition of autism to minimize any heterogeneity, hoping that if the effects were subtle, they would still stand out,” says Dan Arking, Ph.D., an assistant professor at the McKusick-Nathans Institute. “Using a broader definition of autism, we were then able to replicate the initial finding in one of the largest-ever group of autism samples.”

Autism spectrum disorder includes a set of poorly understood developmental disorders that vary in severity and symptoms, but all include impaired social interaction and language development and restricted and repetitive behavior and interests.

The Hopkins team focused on one region on chromosome 7 that previously had been flagged as a possible link to faulty language acquisition in autism families.

Using genome-wide analysis, the team first analyzed DNA from 292 individuals, including 148 affected offspring. They compared single nucleotide polymorphisms, or SNPs, the differences in single chemical’s building blocks of the DNA at the same point across many people. They found that autistic individuals tend to inherit the DNA letter T from their parents much more often than expected by chance at one particular place on the chromosome.

To validate their finding, the team then repeated their approach with a separate group of samples consisting of 1,295 parent-child trios. They again found an overrepresentation of T, confirming that inheritance of the T genetic variant is associated with increased risk of developing autism.

The T genetic variant is found in the middle of the CNTNAP2 gene, short for contactin-associated protein-like 2, which codes for a protein that’s thought to mediate cell communication in the nervous system.

The researchers then looked at the same data to see if there were differences in which parent the T allele is inherited from and the gender of the child. They found that autistic individuals are more likely to get the T allele from mothers than fathers, and more likely to be boys than girls.

“We know that boys are four times as likely as girls to be autistic,” says Chakravarti. “And now we have some intriguing evidence suggesting that the gene may show a parent-of-origin effect.”

The research was funded by the National Institutes of Health.

Authors on the paper are Dan Arking, David Cutler, Tanya Teslovich, Kristen West, Morna Ikeda, Alexis Rea, Moltu Guy, Shin Lin and Chakravarti of Hopkins, and Camille Brune and Edwin Cook Jr. of the Institute for Juvenile Research at the University of Illinois, Chicago.

Johns Hopkins Medicine


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x Autism-Vaccine round II x
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Research Posted by lightfoot on Wednesday, February 06, 2008 (16:49:22)

Posted by Paul Nyhan at January 30, 2008 10:55 p.m.

Pediatricians took another swing in the autism-vaccine fight Wednesday, pushing up the release of a study that suggests infants get rid of thimerosal mercury faster than researchers thought.

Since babies get rid of the mercury once used in vaccines faster there is "little chance for a progressive building up of the toxic metal," University of Rochester researchers wrote.

"This debunks the great myth, believed by both parents and some pediatricians, that the gauntlet of thimerosal-containing shots many infants received in the 1990s – when the average number of vaccines kids received increased sharply – had put them at risk for developmental disorders," a statement from the University of Rochester Medical Center said.

The research is in the February edition of Pediatrics, but the American Academy of Pediatrics released it early after the "Eli Stone" controversy. (The premiere episode of the ABC drama tells the story of lawyer winning a multi-million dollar settlement after arguing a vaccine was responsible for a case of autism.)

"February's issue of Pediatrics offers another reason to rethink blaming the spike in autism diagnoses on thimerosal, a mercury-containing preservative routinely used in several childhood vaccines until the late '90s," the University of Rochester said in the statement.

Seattlepi.com


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Research Posted by lightfoot on Thursday, January 31, 2008 (10:48:43)

by Kristina Chew, PhD

The Journal of Autism and Developmental Disorders has published a study about thin bones in boys with autism spectrum disorders by researchers from the National Institutes of Health and the Cincinnati Children’s Hospital Medical Center. Researchers x-rayed the hands of 75 autistic boys who are between the ages of 4-8 and found that, compared to boys of the same age who do not have autism, the autistic boys had significantly thinner bones. A “lack of exercise, a reluctance to eat a varied diet, lack of vitamin D, digestive problems, and diets that exclude casein, a protein found in milk and milk products,” were all cited as reasons that autistic boys might have poor bone development. From an NIH press release:


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x Natural Killer Cells and the Search for Biomarkers for Autism x
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Research Posted by lightfoot on Wednesday, January 30, 2008 (11:30:04)

by Kristina Chew, PhD

Researchers at the M.I.N.D. Institute at the University of California at Davis are the first to use genomic profiling of blood to note differences in autistic children, the January 25th Health News Digest reports. Their hope is that such “gene expression analyses can provide biological evidence of autism, currently diagnosed only through behavioral assessments, in some children.”

“What we found were 11 specific genes with expression levels that were significantly higher in the blood of children with autism when compared to the blood of typically developing children,” said Frank Sharp, senior author of the study and professor of neurology with the M.I.N.D. Institute. “Those 11 genes are all known to be expressed by natural-killer cells, which are cells in the immune system necessary for mounting a defense against infected cells. We were surprised by our results because we were not looking for these particular genes. And while a number of studies have shown immune system dysregulation to be an important factor in autism, ours is one of the first to implicate these particular cells.”

In conducting the study, Sharp, molecular pathologist Jeff Gregg and their M.I.N.D. Institute colleagues used blood samples from 35 children diagnosed with autism, 14 with development delay but not autism and 12 typically developing children. The samples were subjected to gene expression analysis using microarrays and compared for common patterns. In addition to finding the 11 genes with natural-killer cell connections shared by all of the children with autism, they identified a pattern of 140 genes differentially expressed in children with the early onset form of the disorder and a pattern of 20 genes differentially expressed in children with the regressive form of the disorder. The team is the first to use genomic profiling of blood to observe differences in children with autism.

Might this study point towards the development of a blood test for autism, of a biomarker for diagnosing autism? The study is published in the January issue of Genomics.

Dr. Sharp further notes that the current study also does not “identify whether or not the natural-killer cells are functioning abnormally,” which further work by M.I.N.D. Institute immunologists will consider reveal. He continues:

“If the natural-killer cells are dysfunctional, this might mean that they cannot rid a pregnant mother, fetus or newborn of an infection, which could contribute to autism.”

The image of some “natural killer” cells that ward off tumors and affect cells, and so play a role in the genes of autistic children stands out. One can imagine proponents of theories that something in the environment “triggers” autism making something of this research about something like stealth autism getting into the genes of some children and causing an “infection” in a pregnant mother or fetus.

A life less ordinary by Emily goes into much more detail about this study and about autoimmunity and autism (and I’ll note here that, between Jim’s family and mine, there is a history of autoimmune disorders: multiple sclerosis and allergies on his side, and asthma, which I used to have a severe case of).

from: AutismVox


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