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Autism Spectrum Disorders in the Stockholm Youth Cohort: Design, Prevalence and Validity

28 Aug

A recent study from Sweden presents another autism prevalence estimate. Autism Spectrum Disorders in the Stockholm Youth Cohort: Design, Prevalence and Validity is available online free. My analysis is on the Autism Science Foundation blog as Autism Spectrum Disorders in the Stockholm Youth Cohort: Design, Prevalence and Validity

I will point out that the methodology differs from the American prevalence estimates from the CDC. In particular, where the CDC looks at children of a given age (8 years old) in a given year, the Stockholm Youth Cohort study considers a cross section of autistics, ages 4 to 23. The prevalence, especially for autistic disorder, is relatively flat for autistics born in the 1990s, a time when there was supposedly an increase of 100’s of percent in autism prevalence. In other words, the study doesn’t support the idea of an epidemic.

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By Matt Carey

Grants will fund pre- and post-doctoral autism research fellowships

24 Aug

The Autism Science Foundation has opened the application process for pre- and pos-doctoral Training Award. The announcement is below:

Today we opened our applications process for the 2013 Pre- and Post-doctoral Training Awards for graduate students, medical students and postdoctoral fellows interested in pursuing careers in basic and clinical research relevant to autism spectrum disorders. In the past three years, ASF has funded over $700,000 in pre- and post-doctoral grants.

“Pre- and post-doctoral fellowships not only build our knowledge about what causes autism and how best to treat it, but also build our future by encouraging outstanding young investigators to dedicate their careers to autism research,” said Alison Singer, president of ASF.

“We are so grateful to all our donors and volunteers who have come together to support autism research and who make these grants possible,” said Karen London, co-founder of ASF.

The proposed training must be scientifically linked to autism. ASF will consider for training purposes all areas of related basic and clinical research including but not limited to:

Human behavior across the lifespan (language, learning, communication, social function, epilepsy, sleep, repetitive disorders)
Neurobiology (anatomy, development, neuro-imaging)
Pharmacology
Neuropathology
Human genetics/genomics
Immunology
Molecular and cellular mechanisms
Studies employing model organisms and systems
Studies of treatment and service delivery
Applications must be received by November 16, 2012. Additional information about the RFA can be found at www.autismsciencefoundation.org/ApplyForaGrant.html.

Grant applications will be reviewed by members of ASF’s Science Advisory Board (SAB) and other highly qualified reviewers. Current SAB members include Dr. Joseph Buxbaum (Mt. Sinai School of Medicine); Dr. Emanuel DiCicco-Bloom (UMDNJ-Robert Wood Johnson Medical School); Dr. Sharon Humiston (University of Rochester); Dr. Bryan King (University of Washington, Seattle); Dr. Ami Klin (Emory University); Dr. Harold Koplewicz (The Child Mind Institute); Dr. Eric London (New York Institute for Basic Research); Dr. Catherine Lord (New York Center for Autism and the Developing Brain); Dr. David Mandell (University of Pennsylvania/CHOP); Dr. Kevin Pelphrey (Yale Child Study Center) and Dr. Matthew State (Yale Medical School).

To learn more about the ASF’s grant programs, and to read about projects funded through this mechanism in prior years, visit www.autismsciencefoundation.org

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By Matt Carey

Mark Geier’s license suspended in Florida, revoked in Indiana

22 Aug

Dr. Mark Geier is well known within the alternative-medicine and vaccine-causation segments of the autism communities. As a practitioner, Dr. Geier is probably best known for therapies purporting to treat autism through approaches claiming to work on removing mercury. The idea that mercury is involved in autism etiology is a failed hypothesis on it’s own. But Dr. Geier’s treatment ideas included a frankly incredible notion that mercury is bound in the body by testosterone, so, he hypothesized, by reducing the body’s production of this hormone, one could better remove the mercury. To reduce testosterone, Dr. Geier proposed (and prescribed) drugs such as Lupron. It is not a bad idea–it is a series of bad idea. Very bad ideas.

These ideas are so poor in concept that it is difficult to get insurance companies to pay for Lupron for reducing mercury in the body. In an apparent move to avoid this difficulty, Dr. Geier diagnosed autistic children with precocious puberty. Dr. Geier’s methods were lacking and due to this and other factors, Dr. Geier’s license came under suspension in his home state of Maryland.

Dr. Geier was licensed in many states. When a doctor faces disciplinary action in his home state, he is supposed to report those actions to other states where he holds a license. As Catherina reports in Bad month for the Geiers: Mark R. Geier’s medical license suspended in Florida, Dr. Geier appears to have failed to inform Florida in a timely manner. The full decision is linked on the Just the Vax site, and also can be found here.

Todd W. of Harpocrates Speaks further notes that Dr. Geier’s license had been revoked–not suspended, revoked–in Indiana. In Mark “Castrate ‘Em” Geier’s License Suspended – Part 7 Todd W. notes:

Indiana also made a further step, going beyond mere suspension to actually revoking his license in that state. The revocation comes because he failed to appear before the board regarding his suspension, thereby defaulting on any appeal to their decision. The final order, dated July 5, 2012 further imposed a $5 fee and a fine of $3,000.

Further reading about the “Lupron Protocol” can be found at Neurodiversity.com, where Kathleen Seidel’s thorough reporting was the first to expose many of the questionable practices.

If I understand correctly, Dr. Geier remains licensed in both Illinois, Missouri and Hawai’i. However, he faces more charges in his home state of Maryland.

Missouri notes the fact that Dr. Geier has faced license suspension in other states. His license is up for renewal there Jan 31, 2013. In Illinois, his license is active, with a notation that he has not been “ever disciplined”. His license comes up for renewal there July 30, 2014. His Hawai’i license is “current, valid and in good standing” and valid through 01/31/2014.

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by Matt Carey

(note, the last paragraph was added shortly after this article was published)

“We want respect”: adults with intellectual and developmental disabilities address respect in research.

21 Aug

The concepts of neurodiversity are not complex and yet are often misunderstood and misrepresented. Respect is not a difficult concept. The need for research to respect those who are the focus is not difficult.  Respect includes aknowleging that disability does not disenfranchise a person from her human rights. Respect means including the views and opinions of those involved in the research, even if they are intellectually disabled.

Consider this recent study:

“We want respect”: adults with intellectual and developmental disabilities address respect in research.

Abstract Respect is central to ethical guidelines for research. The scientific community has long debated, and at times disagreed on, how to demonstrate respect in research with adults with intellectual and developmental disabilities. To illuminate the voices of those most affected, the author studies the views of adults with intellectual and developmental disabilities on respect in research. Findings are consistent with disability rights’ ideas and indicate that adults with intellectual and developmental disabilities have much to contribute to the discussion, that they value participating, and that they agree with calls to focus on human rights and dignity. Notably, participants spoke at lengths about the nature of interactions between researchers and participants. Implications are discussed, including how to infuse research standards with community-supported values and preferences.

For emphasis: ” . Findings are consistent with disability rights’ ideas and indicate that adults with intellectual and developmental disabilities have much to contribute to the discussion, that they value participating, and that they agree with calls to focus on human rights and dignity.”

Call it “human rights and dignity” and it isn’t a controversial concept. It may not be always followed but it isn’t controversial. Call it “neurodiversity” and somehow it’s a big deal.

One of the misconceptions I’ve read is that neurodiversity is a topic for so-called “high functioning” autistics. Many comments have come through this site calling my child “high functioning” because of the views expressed here. (Those commenters assumed incorrectly).  Here’a something to consider: the study noted above not only focuses on people with intellectual disability, it makes no mention of autism in the abstract.   The study did not even come through in my daily email of pubmed autism abstracts.

Comparing Symptoms of Autism Spectrum Disorders in a Developmentally Disabled Adult Population Using the Current DSM-IV-TR Diagnostic Criteria and the Proposed DSM-5 Diagnostic Criteria

8 Aug

The proposed change in diagnostic criteria for autism (from DSM IV to DSM 5) has been a topic of much discussion. To put it mildly. Little, if any, data has been available on how this change may affect the adult population.

A recent study seeks to address that void:

Comparing Symptoms of Autism Spectrum Disorders in a Developmentally Disabled Adult Population Using the Current DSM-IV-TR Diagnostic Criteria and the Proposed DSM-5 Diagnostic Criteria

Reseaerchers studied autistic adults with intellectual disability. They found that 36%  of their study population would lose their diagnosis under DSM 5.

The American Psychiatric Association is making changes in the autism spectrum disorder (ASD) criteria for the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). In order to examine potential effects of the changing of the criteria, 330 adults with intellectual disability (ID) from two developmental centers were examined. However, due to the fact that the DSM-IV-TR/ICD-10 Checklist does not contain one of the restricted behavior items listed in the current proposed DSM-5 criteria, 41 participants were eliminated from the study. An additional 62 individuals were randomly removed from the study so that no one group was 1.5 times larger than any other group. This left a total of 227 individuals. These individuals were divided into three groups: those who met criteria for an ASD according to only DSM-IV-TR criteria, those who met criteria according to the proposed DSM-5 criteria, and controls with ID not meeting ASD criteria according to either diagnostic system. After statistical analysis, individuals in the DSM-5 group evinced significantly greater overall ASD core symptoms than those in the DSM-IV-TR group or controls. In addition, those in the DSM-IV-TR group exhibited significantly greater overall ASD core symptoms than those in the control group. Furthermore, we found that the percentage of adults diagnosed with ASD declined by 36.53% when using DSM-5 as compared to DSM-IV-TR criteria. Implications of these findings are discussed.

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by Matt Carey

What projects are being funded in autism research? Part 2: Expanded Surveillance

3 Aug

At the IACC meeting OARC released it’s new IACC/OARC Autism Spectrum Disorder Research Portfolio Analysis Web Tool. There are many ways to explore what research is being performed. Since the CDC autism prevalence estimates get a lot of attention, it seemed valuable to see what is in the pipeline with them. The CDC estimates are made through ADDM, the Autism and Developmental Disabilities Monitoring Network, which is largely sites in various states working with the CDC, not the CDC itself.

One can search for ADDM for 2009 and 2010 projects.

In 2009 there were projects ongoing in Alabama, Arizona, Arkansas, Colorado, Florida, Maryland, Missouri, New Jersey, North Carolina, Pennsylvania, South Carolina, Utah and Wisconsin, as well as the Metropolitan Atlanta Developmental Disabilities Surveillance Program/Autism and Developmental Disabilities Monitoring (ADDM) network – Georgia.

13 states plus the Metro Atlanta study.

The latest prevalence estimate report from the CDC included 14 sites: Alabama, Arizona, Arkansas, Colorado, Florida, Maryland, Missouri, New Jersey, North Carolina, Pennsylvania, South Carolina, Utah, West Virginia, and Wisconsin. West Virginia appears to no longer be a part of the study.

In 2010 there were projects ongoing in 11 states plus the metro Atlanta site. Florida and Pennsylvania are no longer funded.

Now, here’s where it get’s interesting. At least to this reader. There are “expanded” projects in 2010:

Through surveillance of ASD among 4-year-old children, CDC can better understand the population characteristics of young children affected by ASDs and better inform early identification efforts.

Arizona, Missouri, New Jersey, South Carolina, Utah and Wisconsin are starting to count 4 year-olds as well as 8 year olds. This will be a good thing. As they say, this will inform early-intervention efforts. This will also benchmark 4 year olds, then (I assume) 4 years later find out what that same cohort looks like.

The CDC autism prevalence estimate reports find a large number of autistic students unidentified even at age 8. They are identified through the records review of the ADDM. This and other studies raise the question of what factors are involved with delays in autism diagnosis. A study is ongoing to answer just that question: Understanding the delay in the diagnosis of autism. The study has already resulted in numerous publications.

The Strategic Plan calls for even more expansion of the ADDM:

Expand the number of ADDM sites in order to conduct ASD surveillance in children and adults; conduct complementary direct screening to inform completeness of ongoing surveillance; and expand efforts to include autism subtypes by 2015.

Expanding to include adults is a good idea, but extremely tough. The current method uses educational and medical records of students. Obviously educational records will not be available for adults. This will make it difficult to make comparisons between adults and children in the same state. Most likely, the estimate will be lower than the actual autism prevalence in adults.

There is a study by the Mayo Clinic on adult autism prevalence and at least one more I am aware of.

Surveillance efforts are expanding into better identification of young children outside of ADDM. Two studies, the California Monitoring of Early Childhood Autism (CA-MECA) and the First Words Project: Implementing Surveillance to Determine the Prevalence of ASD project in Florida. Both are looking at young children (<4 years old) or infants (as young as 18 months). Both studies have been ongoing since 2006.

Studies are ongoing outside the U.S.. Including an Autism Speaks funded study in Kwa Zulu Natal (South Africa). KwaZulu-Natal (KZN) Autism Study will “…test how best to identify and assess children with ASD in the Zulu language and culture, explore the prevalence of autism in South Africa, and further explore the hypothesized relationship between autism and HIV infection.” The Korea Autism Study (also funded by Autism Speaks), which last year announced a prevalence of 2.62% using a whole-population screen, is ongoing.

Surveillance projects will generate questions, and that has definitely happened with autism surveillance work. Questions of why the estimated prevalences are increasing and why some groups are identified later than others are a couple of the big ones. Based on this quick look through the ongoing projects, there appear to be a number of projects in the pipeline which will probably shed some light on existing questions as well as spark new ones.

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by Matt Carey

How Research into Chronic Fatigue Syndrome Turned into an Ugly Fight

24 Jul

Judy Mikovits is a researcher who, in recent years, has focused on chronic fatigue syndrome. In her work she published a paper potentially linking chronic fatigue syndrome to XMRV (Xenotropic murine leukemia virus-related virus). In her unpublished work, her team discussed the possibility that autism was also linked somehow to XMRV.

There has been much drama involving Judy Mikovits, her research and her former institution (the Whittemore Peterson Institute) over the last year.

The Daily Beast has an interview with Judy Mikovits. The first since the legal issues arose last year. How Research into Chronic Fatigue Syndrome Turned into an Ugly Fight. The interview gives her side of the story in much of the events. One can read them at the Daily Beast, but I’ll focus on this section here as it applies to the science involved:

Meanwhile, other research groups around the country were trying to replicate the 2009 results, but in the two years that followed, almost all had failed. The word “contamination” began to surface more and more frequently.

In the summer of 2011, Mikovits and her young lab assistant, Max Pfost, began poring through their notebooks, trying to find where such a contaminant might have entered their process.

In July, she says, she found it—an entry from March 2009 indicating that a culture of the XMRV virus had been placed into the same ice chest with the rest of the lab’s blood samples. Mikovits says she was out of town the day this occurred.

To this reader, this is a sign that the upcoming multi-center attempt to replicate the XMRV/chronic-fatigue-syndrome work is going to come out negative (like the multiple other XMRV/CFS studies published so far trying to replicate her work). There was contamination in her lab’s process.

This does not speak directly to the XMRV/autism work, but two papers have:

Lack of Infection with XMRV or Other MLV-Related Viruses in Blood, Post-Mortem Brains and Paternal Gametes of Autistic Individuals

PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism.

So, we have an unpublished result supposedly linking autism with XMRV from a laboratory where the principle investigator is telling us there was a contamination issue and two papers saying there is no detectable link?

While I doubt the XMRV/autism story will die out completely, it strikes this observer that it’s time to look elsewhere for answers.

What projects are being funded in autism research? Part 1: vaccines and GI issues

23 Jul

The Office of Autism Research Coordination (OARC) rolled out a new web-based tool to explore research projects in autism. The IACC/OARC Autism Spectrum Disorder Research Portfolio Analysis Web Tool has already been discussed here at Left Brain/Right Brain, but I thought it was worth doing some exploring using the tool. In particular, let’s see what, if anything, is happening in some of the “hot button” issues from some segments of the online parent community.

I put in simple search terms. First was “gastrointestinal”. I found 11 projects ongoing in 2009 and 14 projects being funded in 2010. There is some overlap between the two years (as you would expect), and some projects mention the term “gastrointestinal” but are not focused on the topic (for example, this project on treating sleep issues in autistic children). But this project, Analysis of the small intestinal microbiome of children with autism, would seem to be right on target for what many parents are asking for. As is Novel probiotic therapies for autism. Much of the discussion of gastrointestinal function in autistics seems to be focused on the “leaky gut” theory. I would think that this study (noted in detail below) would be of particular interest to many.

Are autism spectrum disorders associated with leaky-gut at an early critical period in development?

Although there is general consensus of greater prevalence of gastrointestinal (GI) distress in individuals with autism spectrum disorders (ASD), the nature of the link is unknown. There is preliminary evidence to suggest that GI distress in ASD may be associated with “Leaky-Gut” (i.e., increased permeability of the intestinal mucosal barrier due to either delayed or abnormal development), as shown by a study showing higher-than-normal prevalence in ASD children 4 – 16 years of age (e.g., D’Eufemia et al., 1996). During normal digestion, the mucosal barrier is responsible for keeping digestive enzymes out of the intestinal wall. Recent evidence shows that if these powerful degrading enzymes enter the wall of the intestine, they will cause major damage to the intestinal wall as well as inflammation in the brain. Investigators hypothesize that ASD may be associated with Leaky-Gut early in development, which combines, or interacts, with diet (breast-milk, formula, solid foods) leading to intestinal wall damage and inflammation in: 1) the intestine, which could explain the GI distress, and 2) in the bloodstream, which could reach and damage the developing brain, thus contributing to the onset of ASD itself. In this study, researchers will track key aspects of GI function in Low-Risk and “High-Risk” infants (i.e., infants who have an older sibling diagnosed with ASD), including: 1) signs of Leaky-Gut, 2) symptoms of GI distress (e.g., diarrhea, reflux, constipation), 3) diet (breast-milk vs. formula), and 4) evidence of digestive enzymes and inflammatory markers of cell death in the bloodstream. They will correlate GI, diet, and inflammatory measures with results from cognitive, visual, and behavioral tests, including standard ASD diagnostic tests, at two and three years of age to determine if Leaky-Gut is associated with the development of ASD.

How about vaccines? Four projects in 2009, four in 2010. Three of those projects are the same from 2009 to 2010, and those three are funded by Autism Speaks. Two are funded by the Federal Government: Vaccine safety datalink thimerosol and autism study and A primate model of gut, immune, and CNS response to childhood vaccines. The second of those projects is, I believe, a follow-on study to the Laura Hewitson primate study (many supporters of that work complain that there has been no follow on to it)

While we are at it, there are four studies mentioning “mercury” in 2009, nine in 2010 (granted, in 2010 research funded by SafeMinds was added to the database. As they are a major proponent of the mercury hypothesis, it isn’t surprising that four of these studies were funded by them).

I am reminded of past criticisms about environmental risk factors levied at the IACC. In past years there was a discussion point that the IACC Strategic Plan did not include an emphasis on environmental risk factors for autism. A simple review of the strategic plan showed this not to be the case. Oddly enough, one could not find discussion of the facts on the websites of those claiming to be calling for environmental risk factor research, only here at Left Brain/Right Brain.

It has also been discussed here that the IACC does not control the research budgets and no direct control over what projects actually get funded. The IACC is an advisory committee. The fact that most research project items in the Strategic Plan do get funded suggests that the IACC is an effective advisory group.

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by Matt Carey

note: I serve as a public member to the IACC, but my opinions and comments (even those about the IACC) are my own.

Scientist Patricia Rodier, Trailblazer in Early Origins of Autism, Dies

19 Jul

Autism researcher Patricia Rodier, Professor at the University of Rochester, has died. U. Rocherster discusses this on their website as Scientist Patricia Rodier, Trailblazer in Early Origins of Autism, Dies.

Patricia Rodier, Ph.D., the first scientist to formulate and study the idea that autism can originate long before a child is born, died May 3 at Strong Memorial Hospital. She was 68.

An embryologist specializing in the nervous system, Dr. Rodier completely changed the way we think about the development of autism. While many believed that the disorder arose very late in pregnancy or in the early part of an infant’s life, Dr. Rodier’s research turned that widely held, but unproven, belief upside down. Her work established that genetic and environmental factors can also spur the development of the disorder as early as three weeks into a pregnancy, when the first cells of the nervous system start to develop.

Prof. Rodier became interested in autism relatively late in her career, but early in the modern era of autism research: 1994. She heard about a study showing a high prevalence of autism in adults who had been exposed to thalidomide prenatally. She gathered a team to investigate how autism develops early during gestation.

She wrote an article in 2000 for Scientific American, The Early Origins of Autism (also available online in full here). A lot has happened in autism research since then, but much of what she did and had to say is very relevant today. For example, she performed research using post-mortem brain tissue. She notes that the twin studies, even those available at the time, showed that more than simple inheritance was at play. She notes multiple prenatal environmental exposures which increased autism risk (thalidomide, maternal rubella infection and valproic acid). She notes how the data, even then, pointed to multiple genes being involved.

In short, many ideas which are considered “new” (e.g. multiple genes as a risk factor) or that “mainstream medicine refuses to consider” (e.g. environmental risk factors) are discussed in that 12 year old article.

Another part of Prof. Rodier’s research which became extremely relevant in the discussion of autism causation was her work on mercury exposures. From the U. Rochester webpage:

A professor in the Department of Obstetrics and Gynecology at the University of Rochester Medical Center, Dr. Rodier was also a world expert on mercury toxicity, studying how single exposures to the chemical during pregnancy influence a baby’s brain development. To this day, much of the research being done on mercury exposure and birth defects is based on Dr. Rodier’s early findings.

She was likely the one person in the world who had strong expertise in both autism development and mercury. She was called upon as a witness for the Omnibus Autism Proceeding (discussed here and here). Her expert report for the OAP is an excellent resource for people trying to make sense of the autism/mercury notion.

I exchanged emails with Prof. Rodier a few times to discuss her work. While I never actually spoke with her, the “voice” of her emails was always very kind. I found out about her passing when I was considering contacting her again recently. I wish her family well.

–by Matt Carey

Is Infertility Associated with Childhood Autism?

17 Jul

Some of the more prolific teams of autism epidemiologists are based in California. The people at Kaiser Permanente, the MIND Institute and the California Department of Public Health must account for a sizable fraction of research papers published. On thing I appreciate about these groups is that they don’t just publish the “hits”, they also “misses” (hypotheses which did not show an increased risk).

Such is the case with at least part of the recent study, Is Infertility Associated with Childhood Autism? The authors found no evidence of increased risk for ASD with infertility. They do find a possible risk “associated with infertility history and with infertility evaluations and treatment around the time of index pregnancy conception”

Here is the abstract:

Concerns persist about a possible link between infertility and risk of autism spectrum disorders (ASD). Interpretation of existing studies is limited by racial/ethnic homogeneity of study populations and other factors. Using a case-control design, we evaluated infertility history and treatment documented in medical records of members of Kaiser Permanente Northern California. Among singletons (349 cases, 1,847 controls), we found no evidence to support an increase in risk of ASD associated with infertility. Among multiple births (21 cases, 54 controls), we found an increased risk associated with infertility history and with infertility evaluations and treatment around the time of index pregnancy conception; however, small sample size and lack of detailed data on treatments preclude firm interpretation of results for multiple births.

–by Matt Carey

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