Monthly Archive for October, 2009

Jani and Oprah

January First made Oprah!

I’m a tad late getting to this, as the segment aired 6 October 2009, but I’m glad to note that Ms. Winfrey covered the story of Jani, the 6-year-old girl with childhood schizophrenia whose story Shari Roan candidly reported last June in the Los Angeles Times.

Because it’s coverage by someone whose authority comes from television, there are video segments to be seen. Try this one. Link to the section of Ms. Winfrey’s show’s Web site about the segment.

From the Web site for the Ms. Winfrey’s show, I also learned that Jani’s father has created a site devoted to Jani. The site lists it’s purposes as promoting “awareness… that severe childhood mental illnesses do exist and can strike at any age” and “that these kids are the way they are because of BIOLOGY, not because of abuse, environment, or bad parenting. Every parent we know of a mentally ill or autistic child is deeply committed to their child’s welfare.”

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National Standards Project

The National Autism Center released the report of its National Standards Project. The project was designed to identify interventions that are or are not beneficial for individuals with Autism or Autism Spectrum Disorder and it presents known therapies in three categories: established, emerging, unestablished (including a subsection on “ineffective/harmful treatments”).

In summary, the National Standards Project, a primary initiative of the National Autism Center, seeks to:

  • describe the age, diagnosis, and skills/behaviors targeted for improvement associated with treatment options
  • identify the limitations of the current body of research on autism treatment
  • offer recommendations for engaging in evidence-based practice for ASD

Continue reading ‘National Standards Project’

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Chromosomes linked to Autism

In a letter to Nature, Lauren Weiss, Dan Arking, the Gene Discovery Project of Johns Hopkins, and the Autism Consortium report that they have analyzed multiple data sets and identified potential loci on human genes for susceptibility for Autism. They found possible linkages on four chromosomes (5p15, 6q27, and 20p13) and, coupled with other data, the single nucleotide polymorphism on 5p15 pointed to SEMA5A as an important location for additional study. These results may lead to a means of screening; if rare variations can be identified reliably, they would permit families to seek intervention very early in the lives of affected individuals, thus greatly increasing the chances of improved outcomes.

Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success1. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 10-7). We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants.

Link to the abstract.

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Autism prevalence > 1%?

Drawing on the data collected as a part of the US National Survey of Children’s Health, Michael Kogan and colleagues estimated that slightly greater than 1% of children have Autism. The survey asked parents whether a doctor or other health-care provider had said that a child had Autism and the child currently had the condition; the point-prevalence was 110 per 10,000 for Autism Spectrum Disorder. The survey, which is a part of the regular US Child and Adolescent Health Measurement Initiative (CAHMI), asked questions of 78,037 parents.
Continue reading ‘Autism prevalence > 1%?’

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C0nc0rdance’s anti-vax takedown

An individual who goes by the screen name C0nc0rdance posted a pair of videos to YouTube on 1 October 2009 that make a clear and compelling case for ignoring ill-reasoned arguments recommending that parents avoid vaccinating their children.

When we make risky decisions about our health, it’s always good to be in possession of all the facts, to let our brains, and not our hearts, make the decision. Your child is thousands of times more likely to die from a preventable disease you didn’t vaccinate them against than to develop autism from a vaccine you did give them. The case for autism and vaccines is solely based on weak correlations and emotional responses.

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