First Autistic Presidential Appointee Speaks Out

7 Oct

Wired Magazine has an interview with Ari Ne’eman, Exclusive: First Autistic Presidential Appointee Speaks Out. Mr. Ne’eman has been appointed by the Obama administration to to positions: a seat on the Interagency Autism Coordinating Committee (IACC) and a seat on the National Council on Disability (NCD).

The author of the Wired piece, Steve Silberman, also blogs at PLoS. His piece there is No More Pity: The First Openly Autistic White House Appointee Speaks Out.

The Wired piece does touch on the opposition to Mr. Ne’eman’s appointment. I am grateful that this an other side issues are also met with a real discussion of what Mr. Ne’eman’s views are. I wish there even more of that discussion. Here is a small sample:

Very few of us wake up in the morning and think, “Have they developed a proper mouse model for autism yet?” Instead, autistic people and their parents worry about finding the educational and support services that they need.

As a parent, I appreciated this question and answer:

Wired.com: What advice would you give to neurotypical people who want to become effective allies of the autistic community?

Ne’eman: At the political level, watch where your money is going. There are a lot of well-meaning people who think they’re helping us by donating to Autism Speaks or other groups looking for a cure. It would be better for people to get involved in their local communities and ask tough questions like, “Is my school inclusive? Is my workplace willing to hire autistic people and other people with disabilities?”

Given Mr. Ne’eman’s recent appointments, I felt this was probably the key question of the interview:

Wired.com: What do you hope to accomplish in Washington?

Ne’eman: All across the country, we have hundreds of thousands of people on waiting lists for access to community services. People with disabilities don’t have the support we need to live independently, be employed, and participate in civic life. Instead, because of a bias in the way Medicaid is structured, many of us are segregated in institutions, which offer a much lower quality of life to disabled people at the same time that it works out to be much more expensive. It’s easier to get states to pay for an institution than to get them to allow people to access services in their homes. Making community services more accessible would be a huge game changer for all kinds of people with disabilities.

Passing one particular piece of legislation — the Community Choice Act — would accomplish that. The Community Choice Act would make it so that states would be required to pay for supports and services at home or in the community, but it would actually save money, because institutional placements are very expensive. There’s no reason not to do this.

Free and Appropriate Education?

6 Oct

I’m a bit short of time this morning so couldn’t give this story the time it deserved. The following is a cut and paste job from Fox Houston:

Dreams brought Kenneth Chibuogwu to America and in time determination brought many of those aspirations within reach.

“I worked hard. I came to this country with nothing,” says Kenneth.

It is a country this father and husband have deeply embraced, along with its core convictions.

“If you don’t stand up for something, you’ll fall for anything,” he says.

And what could be more worthy of battle than his first born son, Chapuka, “Chuka” for short a child who will spend each and every day of his life challenged with autism?

“This child was a gift from God,” insists Kenneth.

Guaranteed by federal law a “free and appropriate education” for their son, Kenneth and wife Neka hoped the Alief School District would prove an able partner in helping Chukka reach his potential.

It didn’t happen.

“When I went there I saw things no mother would want to see,” says Neka her visits to Chuka’s middle school.

“My wife went to observe, found him squashed in the corner and nobody cared,” says Kenneth.

“There was nothing I could do but cry because I was so shocked that such a thing could go on in this country,” added Neka of the repeated conferences with Alief administrators ending in stalemate.

In Texas when parents and educators can’t agree on whether a school district is giving a disabled student all that the law demands the state offers a procedure called “due process” where a sort of education judge listens to all the evidence and decides the issue.

In May of 2007, using much of their life savings, Chuka’s parents filed their case.

Instead of seeking compromise, Alief launched a full-blown legal counterattack alleging the case was “improper” and that the Chibuogwus “harassed” district employees during meetings.

“Nobody in this household harassed the school district. I feel that they harassed us,” insists Neka.

“These people had been railroaded, these people had been maligned,” says special education advocate Jimmy Kilpatrick who represented Chuka and his parents.

Drained and discouraged, Kenneth and Eka dropped their due process case and Chuka never returned to class.

The conflict could have ended there, but Alief Superintendent Louis Stoerner and then board president Sarah Winkler had other plans.

The District sued the economically distressed parents of a special needs child for every penny of the district’s legal expenses, an amount, at the time approaching $170,000 dollars and now estimated at close to a quarter million.

“What I feel is that they are trying to bully me for asking for a chance for my son¿s life,” says Kenneth.

Alief taxpayer and watch dog Bob Hermann sees the lawsuit as senseless and mean spirited.

“I don’t know why we would spend taxpayers money to try and punish somebody who doesn’t have the money and are probably going to win at the end of the day anyway,” says Hermann.

Those who represent special needs families suspect a larger more sinister scheme.

“What they are trying to do is send a chill down parent’s spine about advocating for their children,” says Louis Geigerman, president of the Texas Organization of Parents, Attorneys and Advocates.

“Lets set some examples, lets hang a few of them at high noon right out here in the middle of the town square and show you what we do to people who want to advocate for their children,” adds Kilpatrick.

“If I don’t fight them, you know they are going to do it to other parents,” says Kenneth Chibuogwu.

This past April after three long and expensive years of legal warfare a federal judge here in Houston issued his ruling. Alief I.S.D. was wrong and had no right under the law to collect legal expenses from Chuka’s parents.

Instead of accepting the ruling, superintendent Stoerner and apparently the Alief School board have chosen to risk even more taxpayer dollars and appeal the ruling to the 5th Circuit.

At a board meeting, by phone and by e-mail Fox 26 news has repeatedly asked the Alief decision makers “Why” and have yet to receive an answer.

A district spokeswoman promised comment after the appeals court rules.

“We’ve almost lost everything trying to keep this up,” says Neka.

“What basically there are trying to do is run me and my family on to the street,” says Kenneth

While school expenses are generally available for public inspection Alief has attempted to block our opens records request.

FOX 26 News has however obtained invoices which show the district’s taxpayers have compensated Erik Nikols and his Law firm Rogers, Morris and Grover as much as $12,000 in a single month for waging the three-and-a-half year courthouse campaign against the Chibuougwu’s.

The meter, presumably, is still running.

“I know a lot of people have gained from this, a lot of people have been enriched by this,” says Neka.

As for Chuka, he’s now fourteen, attends no school and for five years hasn’t received a single minute of the free and appropriate public education that is his right

Their child, his parents insist, has been thoroughly left behind.

A look back on autism blogging

6 Oct

A post on Autism Street is entitled “Epilogue“. In it, Do’C gives a look backwards on his experiences online in the past few years. Autism Street was one of my mainstays when I first started reading blogs. Before reading autism blogs I had almost no exposure to blogs. I can’t recall how exactly I got into reading blogs but I recall some of the ones I read.

Obviously, I’ve read Kev’s blogging for some time. I was reading when the domain name was under his name and not LeftBrainRightBrain. I met Do’C once and he asked me how I used to find the blogs to read. I told him that I would take some of the sites with long blog rolls (LBRB being one, Neurodiversity.com being another) and would just go down the blog roll, reading whatever was new on each blog.

A lot of the blogs I’ve read have either stopped or slowed down. A lot of them I don’t remember. But here are some of them.

AutismDiva. The Diva has retired. For those who keep speculating, yes, she is retired and not morphed into some other online persona. The Diva was a persona, not the personality of the actual blogger. The Diva had an amazing wit, and it bothered many who were the target. I think it sometimes masked the fact that the Diva cared a lot about autistic people. The Diva gave me some of the best advice I got as a blogger. One piece was that bloggers should give themselves permission to stop.

I find it very strange that it has been three years since the last Diva post.

Asperger Square 8. A different brand of humor than the Diva, but amazing humor at the same time. Again, the real message was under the humor. Square 8 is not very active these days and I miss that very much.

I recall when Kev first blogged about a Autism News Beat. This is not a high-quantity blog, but again a sharp wit and some amazing pieces. ANB works from a journalist’s perspective. He has attended alt-medicine conferences and reported on them.

A Photon in the Darkness blog is and has been a great resource. Prometheus has been blogging since 2005. Prometheus has an a level of scientific expertise which is rare in blogging. Not absent, but rare.

No blogger is as thorough as Kathleen Seidel at Neurodiversity.com. Her series on the Geier’s revealed questionable institutional review boards, questionable therapies, well, lots of questions about the Geiers. Lots of answers too. Those answers prompted a subpoena from a vaccine-injury lawyer who often hires the Geier team. A subpoena which was quashed, but not until after it made nationwide news.

The Autism Natural Variation blog is and has been one of my favorites. There was a time when every three months the California Department of Developmental Services would put out new statistics. David Kirby and Rick Rollens would immediately use those statistics to claim that vaccines cause autism, and Joseph and Do’C would desconsruct the spin. I recall one time when Mr. Kirby and Mr. Rollens couldn’t agree. One claimed that the autism count went down, one claimed that the count went up. Both claimed this as proof that vaccines cause autism. Joseph and Do’C were always there and always solid with responses.

I could go on and on. There have been so many really good blogs. The ones above are just the few that came readily to mind. What strikes me is that the ones that did come readily to mind are blogs which have largely dropped off in output over time.

What is very interesting at this time is the reformulation of the Autism Hub. Many of the older blogs, some very good newer ones. One new one that caught my eye is Corina Becker’s “No Stereotypes Here” and another “new” blog is Kristina Chew’s “We go with him“. Krisina Chew amazed me with her prolific blogging in her old blog.

The above are just observations and memories, not a list of “top” blogs or anything of that sort. Just a few of those which stand out in my memory today. Tomorrow the list may be different.

Sibling Recurrence and the Genetic Epidemiology of Autism

5 Oct

As if to follow up on the Social Demographic Change and Autism paper we recently discussed here on LeftBrainRightBrain, a new paper on autism recurrence risk in families came out today. Sibling Recurrence and the Genetic Epidemiology of Autism is from a team from the Kennedy Krieger Institute at the Johns Hopkins University. From the abstract I would guess that the study uses the IAN Database.

The authors find about 11% recurrence risk, much higehr than the prevalence of autism (about 1%) and quite similar to that of the Bearman group. Further, the Kennedy Kreiger team find that about 20% of non-autistic siblings have a history of language delay.

Am J Psychiatry. 2010 Oct 1. [Epub ahead of print]
Sibling Recurrence and the Genetic Epidemiology of Autism.

Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P.

Departments of Psychiatry and Pediatrics, Washington University School of Medicine, St. Louis; the Center for Autism, Cleveland Clinic, Cleveland; and the Kennedy Krieger Institute, Medical Informatics, Baltimore.
Abstract

Objective: Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. Method: The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling. Results: A traditionally defined autism spectrum disorder in an additional child occurred in 10.9% of the families. An additional 20% of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multipleincidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. Conclusions: These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.

Social Demographic Change and Autism: part 2

3 Oct

Prof. Peter Bearman’s group is studying the causes for the rise in autism prevalence, using data from the California Department of Developmental Services. I recently wrote a rather long introduction to their recent paper, Social Demographic Change and Autism.

The study abstract is here:

Social Demographic Change and Autism
Liu K, Zerubavel N, Bearman P.

Abstract

Parental age at child’s birth–which has increased for U.S. children in the 1992-2000 birth cohorts–is strongly associated with an increased risk of autism. By turning a social demographic lens on the historical patterning of concordance among twin pairs, we identify a central mechanism for this association: de novo mutations, which are deletions, insertions, and duplications of DNA in the germ cells that are not present in the parents’ DNA. Along the way, we show that a demographic eye on the rising prevalence of autism leads to three major discoveries. First, the estimated heritability of autism has been dramatically overstated. Second, heritability estimates can change over remarkably short periods of time because of increases in germ cell mutations. Third, social demographic change can yield genetic changes that, at the population level, combine to contribute to the increased prevalence of autism.

They start by noting their group’s previous work which showed an increased risk for autism based on both maternal and paternal age.

There is a strong relationship between parental age and autism. The one study (King et al. 2009) that decomposes maternal and paternal age—and confounding cohort effects— identifies maternal age as riskier than paternal age (using the California data deployed in this analysis).

Relative risks were as high as 1.8. These are not as high as the increased risk for Down Syndrome, which can be 10x higher in older mothers, but it is still a notable effect.

The authors note that parental age has increased notably during the 1990’s, the same time that the “autism epidemic” started.

… the proportion of children born whose parents were age 35 or older at birth increased rapidly: from 24.3% in 1992 to 36.2% in 2000.

Many factors have been identified as correlated to the autism increase. Basically anything that increased over the 1990’s could be argued to be correlated with an increase in autism prevalence. Correlation is not causation, as we hear over and over. One must go beyond correlation in order to claim that there is a real effect.

And Prof. Bearman’s group does go beyond correlation. They look at autism in twins and siblings and show that (1) the concordance is much lower than has been previously reported and (2) the concordance is changing with time. They go into detail on the methods in the paper, including how to determine how many twins were “identical” (monozygotic or MZ) vs. fraternal dizygotic or DZ). Here is the table showing the concordance for twins and sibling pairs from the paper, Casewise and Pairwise concordance numbers are given.

Casewise concordance (Pcw) measures the probability that a co-twin will be affected (with a given disorder), given that the other twin is affected. Pairwise concordance (Ppw) measures the proportion of concordant (both twins are affected) pairs in all pairs with at least one twin who is affected.

Pairwise concordance is what most people think of as concordance.

The pairwise concordance is 40% for MZ (identical) male twins and 50% for female twins. Much lower than the higher values from previous, smaller studies which claimed 36-90% concordance. From the paper from Prof. Bearman’s group:

The Evidence for High Heritability of Autism
To date, the strongest evidence supporting the idea that autism is a genetic disorder arises from twin and family studies. Previous twin studies on full syndrome autism have reported high pairwise concordance rates in identical (MZ) twins (36%–96%) and low concordance rates in fraternal (DZ) twin pairs (0%–31%) (Bailey et al. 1995; Folstein and Rutter 1977; Ritvo et al. 1985; Steffenburg et al. 1989). Because MZ twins share 100% of their genes while DZ twins share only around 50%, a large difference between MZ and DZ concordance rates is regarded as strong evidence for genetic infl uences. The recurrence risk of autism in siblings is reported to range from 3%–9%, which is much higher than the population rate of 10 in 10,000 children (Baird and August 1985; Bolton et al. 1994; Piven et al. 1990; Ritvo et al. 1989).3 Relatives of a child with autism are also more likely to have broadly defined autism spectrum traits than controls (Szatmari et al. 2000).

Low concordance is consistent with another recent study, Genetic variance for autism screening items in an unselected sample of toddler-age twins, from Prof. Goldsmith’s group at U. Wisconsin. The abstract is below:

OBJECTIVE: Twin and family studies of autistic traits and of cases diagnosed with autism suggest high heritability; however, the heritability of autistic traits in toddlers has not been investigated. Therefore, this study’s goals were (1) to screen a statewide twin population using items similar to the six critical social and communication items widely used for autism screening in toddlers (Modified Checklist for Autism in Toddlers); (2) to assess the endorsement rates of these items in a general population; and (3) to determine their heritability.

METHOD: Participants composed a statewide, unselected twin population. Screening items were administered to mothers of 1,211 pairs of twins between 2 and 3 years of age. Twin similarity was calculated via concordance rates and tetrachoric and intraclass correlations, and the contribution of genetic and environmental factors was estimated with single-threshold ordinal models.

RESULTS: The population-based twin sample generated endorsement rates on the analogs of the six critical items similar to those reported by the scale’s authors, which they used to determine an autism threshold. Current twin similarity and model-fitting analyses also used this threshold. Casewise concordance rates for monozygotic (43%) and dizygotic (20%) twins suggested moderate heritability of these early autism indicators in the general population. Variance component estimates from model-fitting also suggested moderate heritability of categorical scores.

CONCLUSIONS: Autism screener scores are moderately heritable in 2- to 3-year-old twin children from a population-based twin panel. Inferences about sex differences are limited by the scarcity of females who scored above the threshold on the toddler-age screener.

Back to Prof. Bearman’s study: their analysis went deeper, including measures of the pairwise concordance for non “identical” twins. Opposite sex twins have a 10% concordance, and same sex twins (dizygotic) have 20% concordance. That gender difference in concordance is quite notable.

The risk of having an autistic child is much higher if one already has an autistic child. The recurrance risk is about 10% for full siblings, 3% for half siblings. These values are quite high considering that the autism (not ASD, but autism) prevalence is less than 1%. The recurrence risk is much higher for siblings of an autistic female than autistic male. Male siblings of a female “proband” have a recurrence risk of 18%. Female siblings of a male “proband” have much lower recurrence risk of 5%.

Prof. Bearman’s group has done what may be a first in concordance studies: analyzed data as a function of birth year. “Temperal concordance”. I.e. they ask the question, does the concordance change with time? The answer, yes.

Here are panels (A) and (B) from Figure 1 of the paper.

Panel (A) shows casewise temporal concordance. Concordance increases for single-sex (SS) twins, and decreases for other-sex (OS) twins during the 1990’s. The authors note this is consistent with a de novo mutation mechanism for increased risk for autism. Panel (B) shows that the average age for the twin parents is also increasing over this time period. From the paper:

In panel B, we report change in mean parental age at twin births, which increases steadily during the same period. Recall that because MZ twins are developed from a single pair of matched egg and sperm cells, any de novo mutations will be found in both twins. In contrast, DZ twins develop from two distinct pairs of egg and sperm cells. Because de novo mutations are rare events, the chance that both DZ twins will share the same de novo mutation is extremely low. If de novo mutations have an increasing causal share in the etiology of autism over time, we should expect an increase in the difference between MZ and DZ concordance rates. One mechanism that accounts for de novo mutations’ increasing share of autism etiology is the rise in parental age over our study period, which is likely to lead to increased mutation rates.

One question that naturally arises in regards to multiple births is the use of assisted reproduction technology (ART). The authors discuss this:

Although the genetic influence on autism has been overestimated, it has increased over time due to non-allelic mechanisms. Although the human gene pool does not change substantially over one or two generations, de novo germ-line mutation rates are much more susceptible to rapid social and/or environmental changes (such as rising parental age), and thus can explain the increase in the heritability of autism. Of importance is the fact that although age of parents at birth of twins was signifi cantly higher in 2000 than in 1992, age of parents at the birth of their second-born did not increase over the same period. Thus, the difference between the trends of OS twin concordance and full-sibling recurrence risk may be associated with age of parents. Since the use of assisted reproductive technologies (ART) is associated with the age of parents and has increased radically over the same time period, ART may be implicated in the increased prevalence of autism. Our data show that the increase in the percentage of children with autism born in multiple births (from 3.6% in 1992 to 5.7% in 2000) exceeded that of the percentage of multiple births in all births in California (from 2.1% in 1992 to 2.9% in 2000). This implication requires future investigation.

The risk of autism is higher with multiple births and increased at a greater rate than the percentage of multiple births in general.

The authors discuss the possibility of prenatal exposures to infection or toxicant or a gene/environment interaction might follow the same trends they observe:

It remains possible that other factors have contributed to the diverging trends in the SS and OS concordance. A virus or a toxicant experienced in utero could yield the results that we observe. Specifically, an increasingly prevalent virus (or toxicant) associated with a small risk of autism would lead to increasing concordance of SS twins (who often share the same placenta) and decreasing concordance of OS twins. Similarly, interactions between genes and an increasingly common environmental trigger could also generate the same pattern. However, we believe that an increase of de novo mutations attributable to rising parental age is more parsimonious given the documented rise in parental age, recent findings that link de novo mutations and autism, and the observed associations between concordance rates and parental age reported in this article.

The authors address one concern that I had in reading the paper: what if some change in the way children are qualified for regional center services changed the characteristics of their population. Or, to put it more simply, are the autistics in 2000 really comparable to those in 1990? Regional center data show a decreasing percentage of children also in the mental retardation and epilepsy categories. Could this have an effect on their results? From the paper:

The temporal concordance trend reported in this article is not predicted by a diagnostic expansion theory. If ascertainment and surveillance dynamics rest behind the increase in SS concordance, we would expect to observe increasing rather than decreasing concordance for OS twin pairs over time. The observation of decreasing concordance over time in OS twins challenges the idea that the results we observe are an artifact of reduction of error in diagnosis as a consequence of enhanced surveillance or clearer understanding of diagnostic markers. First, there is no evidence that diagnostic errors have been reduced; second, if this were the case, we should observe the same effect across all pair types. Finally, increasing ascertainment and surveillance would predict heightened recurrence risk for siblings over time. We do not observe any increase in such risk (chi-square statistics of linear trends in proportion = 1.613; p = .204).

The authors’ concluding paragraph is:

For social scientists, there are three important discoveries. First, we show that a sociological eye on the role of genetics yields the insight that de novo mutations may play a signifi cant role in autism etiology. Only by observing changing patterns of concordance over time—that is, historicizing genetic influences rather than essentializing them—could we find evidence of a new causal mechanism underlying autism. Second, by working with a large population-based data set, versus small clinical samples, we have been able to properly estimate the true heritability of autism. These estimates show that autism is far less heritable than previously thought and consequently, explanations for the precipitous increase in prevalence must turn toward environmental and social dynamics often ignored by the scientific research community. Third, we show that the identification of the mechanisms by which social processes operating at the macro level—in this case, increases in parental age—“get under the skin” and shape health outcomes is a proper social science activity.

This study has the possibility to have a major impact on autism causation research. I would not be surprised at all if this ends up as one of the papers highlighted by the IACC for the year. I’m certain that this paper will be brought up in online discussions for some time to come, what with the very different estimate of twin concordance than previously quoted.

Social Demographic Change and Autism: part 1

3 Oct

I’ve been meaning to blog this for a long time. Ever since it came online, which was months ago. I’ve wanted to do a good job on this paper and so I’ve kept putting it off while I wait for the time to really dig into it. Kev’s recent post about Prof. Bearman got me thinking it is time to get this out. I knew this would be long and it has grown longer than I expected, so I have split the post up. Here are some introductory thoughts. Much as people like to paint me as being in the “genetics” camp, it isn’t really my interest. Someone like Prometheus would do a far better job on an intro and discussion that I can. But in Prom’s absence, I will say what I can.

Prof. Peter Bearman is a researcher at Columbia University. His team has taken a very careful look at the California Department of Developmental Services (CDDS) data and combined this with California birth record data and come up with what are likely some of the best papers to come from those data. The CDDS provides services to the developmentally disabled in California through a series of “Regional Centers”, which are private corporations which administer the state’s funding through largely non-governmental agencies in the state. They have records on the people (consumers) whom they have served over the years and these data include information on how the consumers qualify for services.

There are five eligibility categories for regional center support:

1) Mental Retardation: Significant deficits in general intellectual functioning (generally an IQ of 70 or below) and significant deficits in adaptive functioning.

2) Cerebral Palsy: A neurological condition occurring from birth or early infancy resulting in an inability to voluntarily control muscular activity, and resulting in significant deficits in motor adaptive functioning and or cognitive abilities.

3) Epilepsy: A disorder of the central nervous system in which the major symptoms are seizures. Eligibility is based on a seizure disorder that is uncontrolled or poorly controlled , despite medical compliance and medical intervention.

4) Autism: A syndrome characterized by impairment in social interaction (withdrawal, failure to engage in interaction with peers or adults), delays in both verbal and nonverbal communication skills, deficits in cognitive skills, and impairment in the ability to engage in make-believe play. Individuals may engage in repetitive activities or a limited repertoire of activities.

5) Fifth Condition: This category includes disabling conditions found to be closely related to mental retardation or requiring treatment similar to that required for individuals with mental retardation.

As a side note, a lot of people forget the “Fifth Condition” category. People will say that people with Asperger Syndrome or PDD-NOS don’t qualify for Regional Center services. Well, they don’t under the “autism” category, but they can under the fifth condition if they meet the requirements for a “substantial disability”. But, I am digressing.

The CDDS data have been extensively used to demonstrate the very large increase in autism prevalence that has occurred over the last 20-30 years.
Prof. Bearman’s group has studied the CDDS data and found that some of the increase can be found to attributed to factors such as changes in the way people are diagnosed (diagnostic accretion) and lower ages of identification.

In a recent paper, Social Demographic Change and Autism, Prof. Bearman’s group argues that about 11% of the rise in autism prevalence can be attributed to genetics.

Sorry to give away the conclusion so early but this is going to be long and I know a lot of people won’t read it all.

Genetics is a hot-button issue with a lot of people in the online autism community. Sometimes people will divide the world into two camps: those who believe autism is caused by vaccines and those who believe autism is caused by genetics. It is a major oversimplification but it happens.

Another oversimplification is to confuse genetics and heritability. As in, “I’m not autistic and my wife isn’t autistic, genetics doesn’t account for my kid being autistic”. This is wrong on so many counts. Heritability implies genetics, but not all genetics is heritable.

In high school or even earlier you probably learned about a monk and pea plants and later studies on fruit flies and the color of their eyes. This is Mendelian inheritance. You learned that some traits are recessive and some are dominant.

From this framework, you can’t get a genetic epidemic.

Whenever the argument about genes and changing prevalence comes up, you can be sure someone will eventually bring up Down Syndrome. Down Syndrome is a developmental disability (possibly an example of the sort that comprise the “fifth category” in the DDS). Down Syndrome is genetic. Not always Mendelian inheritance genetic, but genetic all the same.

The risk factors for having a child with Down Syndrome are

1) Advancing maternal age. A woman’s chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman’s risk of conceiving a child with Down syndrome is 1 in 400. By age 45, the risk is 1 in 35. However, most children with Down syndrome are actually born to women under age 35 because younger women have far more babies.
2) Having had one child with Down syndrome. Typically, a woman who has one child with Down syndrome has about a 1 percent chance of having another child with Down syndrome.
3) Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children.

Part 2 and 3 are what we usually think of as “genetic”, as in “Mendalian”. But what about (1) advancing maternal age? A 10 times greater risk for older mothers? Keep in mind, there is a clear genetic difference behind Down Syndrome.

In humans, the egg cells and sperm cells have 23 chromosomes. The rest of your cells normally contain 23 pairs of chromosomes — one from your father and one from your mother. Kids with Down syndrome usually have three copies of chromosome 21 — called trisomy 21 — instead of two copies.

There is a difference, some might call it an error, in the genetic sequence which leads to Down Syndrome. The parents don’t need to have it. It can be genetic and not heritable. Or, at least, not heritable in the way most people think.

Parental age is increasing. We would be seeing an epidemic of Down Syndrome if it weren’t for the genetic test that is available and offered to most pregnant women.

There are already studies out discussing increased risk for having an autistic child with parental age. If parental age is increasing (and it is), why don’t we see an epidemic of autism from this?

Add to this the recent study from the Autism Genome Project (which came out after this paper by Prof. Bearman’s group). That study, and others, are showing that rather than an autism “gene”, that copy number variations (CNVs) may be one source of genetic risk for autism. These are not heritable in the usual sense as usually they exist in the child and not the parent.

According to Prof. Bearman, we are seeing it. It accounts for about 11% of the increase in autism prevalence in the CDDS data. It is a big effect, but small compared to the other factors going on (the other 89%). So without a careful look, one can’t show it.

Prof. Bearman’s group *is* taking a careful look. The result is their paper Social Demographic Change and Autism. There are a lot of very interesting results, like twin concordance being much smaller than has been previously reported. Another recent paper confirms that. Strangely, no one seems to have noticed.

I’ll try to rectify that in the next installment when we look closer at the paper. Until then, here is the abstract:

Parental age at child’s birth—which has increased for U.S. children in the 1992-2000 birth cohorts—is strongly associated with an increased risk of autism. By turning a social demographic lens on the historical patterning of concordance among twin pairs, we identify a central mechanism for this association: de novo mutations, which are deletions, insertions, and duplications of DNA in the germ cells that are not present in the parents’ DNA. Along the way, we show that a demographic eye on the rising prevalence of autism leads to three major discoveries. First, the estimated heritability of autism has been dramatically overstated. Second, heritability estimates can change over remarkably short periods of time because of increases in germ cell mutations. Third, social demographic change can yield genetic changes that, at the population level, combine to contribute to the increased prevalence of autism

Is the end of the Omnibus Autism Proceeding near?

2 Oct

The Omnibus Autism Proceeding (OAP or omnibus) is the way the Court of Federal Claims (vaccine court) has been handling the now 5,000+ claims submitted for autism as a vaccine injury. The Omnibus started officially in July of 2002 with Autism General Order #1. Along the way it was decided that the best way to handle the large number of claims was using “test cases”. Three test cases were heard for each of two “causation theories”. The idea was that “general causation” arguments could be made once, and very thoroughly, and the other cases could be decided on the outcome.

The first causation theory was that the MMR vaccine in combination with thimerosal could result in autism. The test cases for this theory were those of Michelle Cedillo, William Yates Hazelhurst and Colten Snyder. Attorneys for the families presented evidence for a mechanism where thimerosal was proposed to reduce the immune response and the MMR vaccine led to a persistent measles infection which, again as proposed, led to symptoms of autism. In all three cases the special masters (judges) ruled against the petitioner families. They found that the evidence did not support the mechanism proposed.

The second causation theory held that thimerosal in vaccines could result in autism. Three test cases were presented, again with individual and general causation evidence. The test cases, Jordan King and William Meade, and Colin Dwyer were heard. Their attorneys argued that mercury from the thimerosal in the vaccines accumulated in the brains and resulted in neuroinflammation which, in turn, resulted in autism. As with the MMR case, the special masters ruled against the petitioner families.

To put it simply: all the data and all the experts that could be put together to support the idea that vaccines cause autism weren’t persuasive. They came up with two stories (MMR and thimerosal) and neither story made a case that was even close (the special master’s word).

Some of the petioners appealed. Some appealed to multiple levels. The appeals were denied.

The Court recently issued an update letter. I quote part of it below:

As described above in part I of this Update, all of the court rulings in the six test cases described above have found no causal link between autism and MMR vaccines and/or thimerosal containing vaccines. Further, the PSC has informed the special masters that no additional OAP test cases are contemplated.

Therefore, the Office of Special Masters has begun discussions with members of the petitioners’ bar and respondent’s counsel about how best to conclude the approximately 4,700 autism cases remaining open on the court’s docket. To aid in that process, some petitioners’ counsel have contacted all of their OAP clients to advise them of the results in the test cases and to recommend a course of action with regard to their claims. Additionally, all petitioners who are not represented by counsel have been ordered to inform the court either that they wish to dismiss their claim or that they intend to proceed with their case. For petitioners who wish to continue with their claim, orders to identify a theory of causation, produce an expert report, and file additional evidence will follow. Petitioners’ counsel who have not yet done so are encouraged to contact their clients and determine how their clients wish to proceed.

The issue of attorneys’ fees and costs for petitioners’ counsel is part of the discussion about how to conclude proceedings on the OAP petitions. Mediation efforts are underway to develop methods to resolve the fees and costs issues, and a report on the progress in these talks is expected at the October judicial conference.

The special masters are assuming that no one will go forward with the MMR and thimerosal theories. Since those theories don’t hold up in court, it seems a good assumption.

Petitioners can still go forward as individual cases, as in any non-omnibus case. They will need to submit records and a theory of causation and support that theory in hearing.

The PSC (petitioner’s steering committee, a group of lawyers which has managed the Omnibus from petitioner’s side) has decided that no additional OAP (Omnibus) test cases are planned.

This is very important. They have no other theories to present. They don’t plan to present “too many too soon”. They don’t plan to present a Wakefield-like theory of persistent measles infections leading to “leaky guts”. They don’t plan to present a “mitochondrial autism” theory.

This last bit is very important. The Hannah Poling case made a lot of news when it was leaked that the government had conceded her case as a table-injury MMR encephalopathy. She was supposed to be one of the three thimerosal test cases. At the time of the concession and since, it was asserted that her case was “not rare” and that the attorneys were prepared to go ahead with the mitochondrial disorder story. It would appear that there are not many (if any) other “Hannah Poling” cases out there. There is at least one family pursuing a variation of the mitochondrial disorder theory. Alexander Krakow was scheduled to be a test case for the thimerosal theory and his family pulled out of the Omnibus to pursue the mitochondrial theory.

While there may be a case or two that we hear about from here on out, it appears that the Omnibus, the “class action” type phase, is over.

Katie Wright demonstrates AoA mentality

30 Sep

Over at the Clown Blog, Katie Wright pens a sulky screed targeting Peter Bearman. Lets go through it.

Dr. Peter Bearman, a professor of sociology at Columbia University, recently released a research paper alleging that half of the meteoric rise in ASD cases is an artifact. You know- “better diagnosis” and “greater awareness.” A blind, non-medical professional, could have diagnosed my son. Nevertheless in the case of HF ASD and aspergers (which comprise a small % of overall ASD) certainly greater awareness has played a role in the increasing number of those diagnoses. Still- 50%? Ridiculous.

And why ridiculous? Well….just because. Wright offers no evidence to counteract Bearman’s. No science is referenced to challenge Bearman’s work. It simply is ridiculous apparently. One can almost hear the foot stomp of a poor little rich girl out of her league intellectually.

After Dr. Bearman concludes that 50% of the increase cannot be attributed to greater awareness Insel asks what Bearman believes is driving the other 50%. Bearman answers: “genes, old parents and possibly a virus.” This is the best he has got? The NIH gave this guy millions to come with that?

Well no Katie, thats not what the NIH gave him his research money for. According to _you_ Insel asked Bearman what he _believed_ was driving the other 50%. He gave his answer as to what he _believed_ . But these beliefs were just that – beliefs. He presented the science he had done and then shut up on the evidence and opined and on what he was asked to opine on by Insel.

And even his opinion, his beliefs, are rooted in science. There _is_ a genetic component to autism, thats simply a fact. There _is_ research that links ASD to older parents. Katie Wright’s beliefs revolve around one extremely unscientific thing. Vaccines.

Yes, Bearman does acknowledge the possible role of some kind of toxin. Bearman is not sure what that toxin is but he is sure what it isn’t. Take a guess.

See what I mean. If it ain’t a vaccine, it ain’t worth considering according to Katie Wright.

…unbelievably Bearman says: “it isn’t autism that parents are worried about. They know they can deal with that, they know they can help their child, (and he would know this a non parent of an ASD child?) but it is autism organizations scaring parents!” I had no idea that a bunch of stay at home Moms with no money, no federal backing, no million dollar grants- who are already busy parenting autistic kids- have this kind of extraordinary power! Wow, what’s next for us? Ending the recession, solving the mortgage crisis, creating electric cars?

And hot damn Katie Wright, guess what? In my opinion he _is_ right! I’m not scared of autism. I’m scared of one note zealots stealing away research monies, scaring away legitimate researchers with their threats of violence and scaring the public into believing that autism is some kind of tsunami of evil ready to engulf them all in a tide of social security claims.

As for Katie Wright personally, it makes me sick to think of this little rich girl, who’s children will want for nothing, playing the ‘poor little me’ card. There are families out there struggling to get by on a day to day basis and she has the temerity to liken herself to a ‘stay at home mom’. Feh.

As far as blaming the parents for the national crisis of confidence in vaccine safety- grow up Dr. Bearman. The problem is the problem- not people talking about the problem.

Nice quote from that intellectual giant Jim Carrey there. Oh and guess what Katie Wright? You and people like you *are the problem* . Whilst you play offended at legitimate science, there’s a whooping cough outbreak in California that is killing children. You do know that don’t you Katie Wright?

Here’s what you need to do Katie Wright. You need to accept the fact that the science is against you. You need to accept the fact that you are a small scaremongering minority of the autism community. Sounding off about stuff that you clearly have absolutely zero knowledge about (science) makes you look foolish and all it does is show you to be frightened. You are behind the times. Get out of the way of progress.

Florida access to service bill morphed into vaccine bill

30 Sep

A recent story in the Miami New Times caught my eye recently. The story is about how a wealthy Florida chiropractor was attempting to gain access to Florida Department of Health records so that Mark and David Geier could use them for vaccine/autism research.

In the story, Penn Bullock and Brandon K. Thorp write:

But Kompothecras has all but bragged of his ability, via generous giving, to enlist politicians in the anti-vaccine fight. The Sarasota Herald-Tribune reported last year that he donated more than $15,000 to state Rep. Kevin Ambler and state Sen. Mike Bennett; both have backed legislation that would weaken Florida’s mandatory vaccine regimen.

Kompothecras told the paper that his personal lawyer had helped Bennett write an anti-vaccine bill. When he sent the irate email to DOH, the doctor copied Bennett. Whether Kompothecras’s political friends can enforce his will at the DOH is unclear. What is clear is that the DOH is afraid they might.

I tried to find this bill. A news story from 2009, Major GOP political donor Gary Kompothecras backs bill to alter Florida’s vaccine rules, had this to say:

SB 242 would give parents more authority to delay the pace at which their children are vaccinated against illnesses like measles, mumps and polio — as long as they are up to date with their shots by the time they enter the public school system. (Florida law already provides for exemptions from school vaccine requirements in the cases of religious beliefs or medical risks determined by a physician.)

The proposal, sponsored by Tampa Republican Rep. Kevin Ambler in the House, also would prohibit the use of vaccines for pregnant women and young children if the vaccines contain even a small percentage of ethyl mercury. Better known as thimerosal, it is used as a preservative in some vaccines, including flu and tetanus shots that are made in advance and in large quantities. Some people, including Kompothecras, believe thimerosal is the vaccine ingredient that makes their initially healthy children become autistic.

Senate Bill 242 was entered into the record on February 26, 2009. Here is a segment of that version:

11 Section 1.?If the parent or legal guardian of a minor who
12 is an eligible individual, as defined in s. 627.6686, Florida
13 Statutes, believes that the minor exhibits symptoms of autism
14 spectrum disorder, the parent or legal guardian may report his
15 or her observation to a physician licensed in this state. The
16 physician shall immediately refer the minor to an appropriate
17 specialist for screening for autism spectrum disorder.

It is a bill expanding access to services for parents of young autistic children. I’m sure we could have some interesting discussions about that bill, but it died. Well, even before it died, it morphed. Here is the second version after a series of amendments on 4/15/2009. It amends the vaccine statutes in Florida. Here is an excerpt:

36 499.005?Prohibited acts.—It is unlawful for a person to
37 perform or cause the performance of any of the following acts in
38 this state:
39 (30)?The sale, purchase, manufacture, delivery,
40 importation, administration, or distribution of any human
41 vaccine used for children under age 6 or pregnant women which
42 contains any organic or inorganic mercury compound in excess of
43 0.1 microgram per milliliter.

and

51 (6)?In vaccinating his or her child, a parent, legal
52 guardian, or other authorized person, in consultation with his
53 or her pediatrician, has the right to choose an alternative
54 immunization schedule to the immunization schedule recommended
55 by the Centers for Disease Control and Prevention, as long as
56 the child completes the required immunizations before beginning
57 kindergarten or initial entry into a public or private school,
58 whichever occurs earlier.

So, a bill that would expand access to services is completely scrapped. In its place a bill is created which seeks to change the laws on vaccines.

Leaving aside whether thimerosal should be allowed in vaccines. Leaving aside the fact that parents already have the right to an alternative schedule. Leaving aside that the language of that second section is so vague that parents might argue that any alternative vaccine schedule (including none) could be used for admission to school. Leave out whether the bill in its original form is good or not.

Leave all that aside for the moment.

Someone scrapped a bill expanding services in order to take on vaccine legislation.

I’ve said it before and I’ll say it again: many “autism advocates” and “autism organizations” don’t really focus on autism or disability rights.

They are willing to abandon autism legislation in order to focus on vaccines.

Incidence of autism in Berkshire

30 Sep

A Reading Borough Council report has shown that the incidence of autism in a borough of Reading, Tilehurst has increased over a period of eight years (2000 – 2008) from 68 to 186, more than doubling.

Lets put these figures in context of a few things. Firstly, thiomersal. Thiomersal was removed from all UK vaccines in 2004. The average age of autism diagnosis is five and a half (PDF) in the UK. This would mean that if thiomersal caused autism, a significant drop off in autism incidence would have been reported to have been occurring during late 2009 early 2010. This was not reported. This could be because the report did not go beyond 2008 but again there’s no mention of that either and I can’t find the relevant document on the Reading Borough Council website

Secondly, the report seems quite clear to refer to diagnoses of ASD which includes PDD-NOS and Aspergers Syndrome. Kate Manton of Berkshire Autism Society says:

People are being diagnosed much earlier now than they were 10 years ago. Children at two and a half are being diagnosed, if the condition is fairly severe.

Thirty years ago [someone] who was disruptive in class but fairly bright would be called naughty.

All good points and ones which mitigate against the obvious simplistic claims that there is some sort of epidemic of autism. There may well be some sort of ‘epidemic’ of _recognition_ of autism in all its many forms but thats not the same thing at all.

I’m left wishing I could get hold of a copy of the same data that the BBC did so to that end I have requested that the BBC send me a copy of the report. Hopefully they’ll reply.

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