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’
Archive for the 'Causes' Category
New research by Joachim F. Hallmayer and colleagues released on 4 July 2011 raises questions about how strong a role genetic factors play in causing Autism. A large and careful twin study by Professor Hallmayer’s Stanford University team conducted with the support of the US National Institutes of Health (NIH) found that other factors known as the “shared environment” also influence susceptibility to Autism to a greater degree than previous research had indicated.
In genetics research, outcomes such as Autism can be caused by (a) genes, (b) shared environmental factors, (c) non-shared environmental factors, and (d) various interactions among these first three factors. (Technically, there is also “error,” a factor which is included to allow for some slippage is the relationships among these four.) Genes, of course, can be the same or different; in monozygotic or dizygotic twins they are all the same or 50% the same, respectively. The shared environment for monozygotic twins begins in the womb where they share the same placenta. After they are born, monozygotic twins are more likely to have more shared experiences (e.g., they are more likely to be dressed in matching outfits) than dizygotic twins, so they have a slightly greater shared environment than their dizygotic peer. Non-shared environments are the unique experiences people have; for twins, this factor is pretty minor, and it carries little power or weight. But, back to the chase….
In contrast, for example, to a famous study by A. Bailey and colleagues from 1995 that showed a very high heritability for Autism (92% of monozygotic twins were concordant for Autism but only 10% of dizygotic twins were concordant), the present study found that genetic heritability accounted for only 37% of the variance in Autism and shared environment factors accounted for 55% of Autism disorders. The findings hold whether Autism is diagnosed more strictly or more broadly; when Professor Hallmayer’s team examined Autism Spectrum Disorder cases rather than more narrowly defined cases, the percentages went up to 38% genetic and 58% shared environment contributions.
Continue reading ‘Is environment > genetics in cause of Autism?’
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’
Over on LD Blog I have a couple of posts about biological studies firming up possible neuropsychological linkages for maternal smoking and disorders such as ADHD. There are brief stories about two studies presented at Neuroscience 2010:
- Preliminary evidence of link between maternal smoking and risk of child problems
- More on smoking and neuropsych disorders
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’
The 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 ContentJanie 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’
In Pediatrics Dr. Timothy Buie and colleagues published a paper providing evidence-based recommendations for pediatricians who evaluate and treat gastrointestinal problems in patients with Autism. The authors, who represent many important scientific groups concerned with allergies, gastrointestinal disorders, nutrition, and similar problems, concluded that children with Autism and related disorders should be assessed and, as approriate, given medical care just as would individuals without Autism. The team encouraged pediatricians to develop and employ “evidence-based algorithms for the assessment of abdominal pain, constipation, chronic diarrhea, and gastroesophageal reflux disease (GERD).”
Continue reading ‘Science, gastro-intestinal problems, diets, and Autism’
Writing in Molecular Psychiatry, L. Palmieri of the Laboratory of Biochemistry and Molecular Biology, Department of Pharmaco-Biology, University of Bari (Bari, IT) and colleagues reported the results of a small-n study of levels of metabolic transporters in the brain tissue of individuals with and without Autism. They compared the contents of samples from the brains of individuals with Autism and individual without Autism (matched on the bases of sex, age, and time after death that the samples were obtained). They found aspartate-glutamate carrier activity was increased by excessive calcium levels in brains of the Autistic individuals.
Continue reading ‘Excessive levels of calcium mark brains of individuals with Autism’
| Twelve key children’s services for community services boards |
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Right here in my home commonwealth of Virginia last week, Mira Signe, Vicki Hardy-Murrell, John Morgan, and Margaret Nimmo Crowe explained why it is important that government and private organizations attend to and address issues in children’s mental health. By explaining that Virginia has inadequate services and that one in every five children or youths experience mental health problems at some time during their lives, they made the point that that there is a tremendous need for public focus on these issues. This was the kick-off event for the Campaign for Children’s Mental Health.
The Campaign for Children’s Mental Health is a 3-year sustained effort to make mental health services more available and accessible to Virginia children in need. It will strongly endorse Governor-elect McDonnell’s call for system improvements; urge the General Assembly and state and local government to work collaboratively with the administration to address system deficiencies; and conduct a high-profile three-year advocacy and education drive to build public and political support for improved mental health services for children.
Only about one in 20 of Virginia’s children have access to the key services listed in the accompanying box. So, four out of five children who need these services do not have access to them.
No, Virginia, this is not an acceptable way to treat our children. Let’s do better.
- Down load the press release (source of the excerpt quoted here).
- Read coverage in these newspapers:
- Lynchburg News and Advance—Coalition pushes mental-health care for children
- Washington Examiner&mdash:Advocates start bid to expand children’s mental health services under bleak budget;
- Richmond Times Dispatch— Coalition advocate mental-health care for children
- Washington Post (blog)—New coalition has AG’s support for mental health reforms
- Visit (and support) the Web site of the Campaign for Children’s Mental Health.
- Download pdfs of “Survey of Community Services Board Child and Adolescent Services” and “Review of Community Services Board Child and Adolescent Services“; these are report by James W. Stewart, Inspector General for Virginia’s Mental Health, Mental Retardation & Substance Abuse Services (now called Behavioral Health and Development Services). The list of key services comes from these reports;
- Visit the Facebook page;
- Listen to a brief (3+ min) interview with Ms. Crowe from WMRA: Pushing for Children’s Mental Health Reform.
In the November 2009 issue of Pediatrics, Tanya Froehlich and colleagues reported that maternal smoking during pregnancy and children’s exposure to lead were associated with diagnoses of attention-deficit hyperactivity disorder (ADHD). Each factor alone was linked to ADHD, and the two in combination had an even greater association ADHD.
Sphere: Related ContentOBJECTIVE: The study objective was to determine the independent and joint associations of prenatal tobacco and childhood lead exposures with attention-deficit/hyperactivity disorder (ADHD), as defined by current diagnostic criteria, in a national sample of US children.
Continue reading ‘ADHD and smoking and lead’
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