In articles published online by Nature, Professors Stephan Sanders and colleagues and Brian J. O’Roak his colleagues reported additional evidence that rare mutations contribute to risk for Autism. By analyzing genetic material from parents who had children with Autism, the researchers were able to focus on differences in specific genes, what changed from one generation to the next. One team, working in the research lab of Professor Matthew State at Yale University, found strikingly unusual matches for a specific mutation at SCN2A. The other team, under the direction of Professor Evan Eichler at the University of Washington, found several candidates (including SCN1A) and a strong (4 to 1) relationship for older fathers.
Continue reading ‘De novo mutations and Autism redux’
Tag Archive for 'Causes'
In Pediatrics Professor Sally Ozonoff and her colleagues of the Baby Siblings Research Consortium have reported data indicating a substantially higher risk for Autism among siblings than had been previously found. Based on data from studies in the 1980s, estimates of the risk of Autism in a child given that an older sibling had Autism were in the range of 3 to 5%, the Consortium found that the risk may be as great as four times higher than that, perhaps as high as 20%.
The researchers in the Consortium used very careful methods in which they found 664 later-born, biological siblings of a child with Autism when that younger sibling was, on average, about 8 months old. They followed the development of the siblings and assessed whether they had the symptoms of Autism when they were 36 months old. They found almost 19% had scores above the cut-off for Autism. The risk for Autism was even greater for boys and when more than one older sibling had Autism.
Continue reading ‘Little sibs of children with ASD have greater risk of Autism’
The Council for Children with Behavioral Disorders (CCBD) is hosting a meeting at the Sheraton Norfolk Waterside Hotel in Norfolk (VA, US) and the registration deadline is tomorrow, 3 February 2011. CCBD has reduced the fees and there are spcial discounted rates for teams of three or more attendees.
Continue reading ‘CCBD conference 2011′
Brian Deer, the journalist who has doggedly pursued the story about a link between materials in vaccines and the onset of childhood Autism proposed by Dr. Andrew Wakefield and colleagues in the late 1990s, has published details explaining why he considers the original research establishing that link to have been fraudulent. In the first of a series of articles appearing in the prestigious British Medical Journal, Mr. Deer reports the results of his efforts to locate and interview the originally anonymous parents of the children included in the study by Dr. Wakefield et al.—which was published in the Lancet and then retracted—and it is sure to generate lots of heat, and perhaps a little bit of light.
Continue reading ‘Deer’s fraud case in BMJ’
The sugar-makes-kids-hyper hypothesis is still false. Dan Willingham stuck another fork in it. Roasty-toasty. All done. Fizzle.
Now, I’m not advocating a high-fructose, feed-’em-soda-and-sweets diet, to be sure. It’s just that folks need to disabuse themselves of the popular myth that children’s levels of behavioral activity are governed by consumption of sucrose (whether from sugar cane or sugar beet).
Professor Willingham, who pops bubbles with the best of them, lanced this one in his guest post, “The Answer Sheet: How sugar really affects kids.” The evidence is basically the same as what I covered in the mid 1990s under the title “Sugar High?.”
Sphere: Related ContentWriting in the American Journal of Psychiatry, John Gilmore and colleages reported that the size and structure of the brains of newborn boys—but not girls—who are at risk for developing schizophrenia differ from those of their peers. Using multiple scanning methods at different times during gestation and infancy, the researchers compared the brains of offspring of mothers who have schizophrenia to the offspring of mothers who do not have schizophrenia; they found that high-risk boys had larger brains and larger lateral ventricles than baby boys whose mothers did not have psychiatric illness.
Because the risk of developing schizophrenia is much greater for close relatives of schizophrenics, the differences between the groups provides a strong indicator of later potential development of disease. Professor Gilmore wondered “Could it be that enlargement is an early marker of a brain that’s going to be different?”
Continue reading ‘Brain features associated with neonatal risk for schizophrenia’
Over on Science Based Medicine, David Gorsky has an extended post explaining the finding reported in “Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorders” by Dalila Pinto and colleagues (and there are ship load of colleagues) that appeared in Nature. Dr. Pinto and colleagues examined copy number variations (CNVs; deletions, insertions, duplications, and other differences in genetic structure that have been a hot topic in genetics since ~2007) that are associated with Autism. Dr. Gorsky’s summary is well worth the read, saving me the task of summarizing this important report.
Sphere: Related ContentIn “Handcuffing revives autism reform calls,” Natalie Craig reported about a story that, it seems to me, we’ve heard sometime before now.
POLICE handcuffed a 10-year-old autistic boy at a Geelong primary school after a breakdown in which he threw a compass that speared a classmate’s leg.
Link to the full version of Ms. Craig’s story.
Sphere: Related ContentThe publishers of Nature are promoting a new site, Scitable. The publishers bill Scitable as “a free science library and personal learning tool brought to you by Nature Publishing Group, the world’s leading publisher of science. Scitable currently concentrates on genetics, the study of evolution, variation, and the rich complexity of living organisms.” Autism is one of the topics featured at Scitable, so I’ll be reviewing what’s there and monitoring for updates about the scientific study of Autism at it’s “Spotlight on Autism.”
Sphere: Related ContentI rarely point to posts on the Huffington Posts, but an entry by Liane Kupferberg Carter entitled “Autism: A time for civility” deserves recognition. Ms. Carter, the mother of a child with Autism, notes how factionation (if I may create than word) among people with interests in Autism has created divides not needed. The basic notion is that in contemporary diagnoses, Autism reflects a diverse spectrum of disorders. Educators, parents, policy-makers, and others need to accept the diversity and not fight among ourselves. Ms. Carter makes this point well. I encourage readers to read her post.
Sphere: Related ContentAST Online’s most recent newsletter (as of this date) provides lots of helpful information. Check it!
Janie Shelton and colleagues at the University of Califonia at Davis reported that women over 40 years of age who give birth have an increased risk of the child having Autism. By studying a large sample of births, the researchers were able to disentangle the relative contributions of maternal and paternal age to the likelihood of having a child with Autism.
This study conflicts with some previous research that pointed at paternal age as a factor in Autism (see the EBD Blog page by Leslie Feldman on Fathers’ Age as Contributor to Risk for Autism). The Shelton et al. analysis expressly examined the relative contributions and points at maternal age as an independent factor. Additional research will help to clarify the relationships.
Continue reading ‘Maternal age increases risk of Autistic offspring’
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