Archive by Author

Woot! Autistics and Thinking Person’s Guide to Autism editor quoted in New York Times

8 Apr

A story out today by Amy Harmon of the New York Times, The Autism Wars, takes on some of the discussion ongoing about the new prevalence numbers out from the CDC. It is well worth the read.

What caught my eye, as one could tell from the title of this article, are paragraphs like these:

But Zoe Gross, 21, whose autism spectrum disorder was diagnosed at age 4, says masking it can take a steep toll. She has an elaborate flow chart to help herself leave her room in the morning (“Do you need a shower? If yes, do you have time for a shower?”). Already, she had to take a term off from Vassar, and without her diagnosis, she says, she would not be able to get the accommodations she needs to succeed when she goes back.

and

Those numbers are, of course, dependent on the definition of autism — and the view of a diagnosis as desirable. For John Elder Robison, whose memoir “Look Me in the Eye” describes his diagnosis in middle age, the realization that his social awkwardness was related to his brain wiring rather than a character flaw proved liberating. “There’s a whole generation of people who grew up lonelier and more isolated and less able to function than they might have been if we had taken steps to integrate them into society,” he said.

and:

“The term has become so diffuse in the public mind that people start to see it as a fad,” said Emily Willingham, who is a co-editor of “The Thinking Person’s Guide to Autism.” “If we could identify individual needs based on specific gaps, instead of considering autism itself as a disorder, that would be preferable. We all have our gaps that need work.”

In the past, many media outlets would (a) fail to seek autistic input and (b) seek input from autism parents with rather strong political agendas. Amy Harmon has been writing about autism for the Times recently and has articles focused on autistics, so I am not surprised by the tone of this article. But I do see this as a step forward in American Media coverage of autism news.

(note: I know three editors from the Thinking Person’s Guide team and have met Mr. Robison).

Autism Science Foundation live chat with Kevin Pelphrey Friday 12noon eastern time

5 Apr

The Autism Science Foundation will host live interviews with scientists and policy makers during the month of April (Autism Awareness Month). These will be hosted on their facebook page. These will be in a chat format where, as ASF puts it:

“Have questions for an autism researcher? Join us for a live, online chat tomorrow at 12PM ET where YOU can interview Kevin Pelphrey of the Yale Child Study Center.”

The interview/chat with Prof. Pelphrey will be held tomorrow, Friday April 5, at noon eastern time on the Autism Science Foundation facebook page.

Here’s more on Prof. Pelphrey:

Work in Dr. Pelphrey’s laboratory focuses on discovering brain mechanisms underlying the development of different aspects of social cognition including social perception (the initial stages of evaluating the intentions and goals of others by analysis of biological motion cues), theory of mind (the ability to make inferences about the mental states of others), and the perception and regulation of emotion. This work employs cognitive neuroscience methods including functional and structural magnetic resonance imaging, diffusion tensor imaging, imaging genetics, visual scanpath recordings, and virtual reality techniques.

The laboratory conducts studies focused on fundamental questions regarding the typical and atypical development of social cognition in children with and without autism spectrum disorders and other neurodevelopmental disorders. By studying the normal ontogeny of the brain mechanisms underlying social cognition and the abnormal development of these mechanisms in children with autism and other neurodevelopmental disorders, the Pelphrey laboratory is working to uncover the building blocks for complex, multi-faceted, social cognitive abilities.

Dr. Pelphrey has received a Scientist Career Development Award from the National Institutes of Health, a John Merck Scholars Award for his work on the biology of developmental disorders, and the American Psychological Association’s Boyd McCandless Award for distinguished early career theoretical contributions to Developmental Psychology. His research program is funded by the National Institutes of Health, the Simons Foundation, Autism Speaks, and the National Science Foundation.

The 2013 U.S. budget fails to fulfill the promise to fund IDEA

5 Apr

Part of President Obama’s platform when he was campaigning 4 years ago was to fully fund the Federal commitment to special education. On average, a special education student requires about twice the funding as a regular education student. The Federal government made a commitment to pay states 40% of the costs of special education, but has never lived up to that commitment. Typically, the Federal contribution to IDEA is about 17%.

When he campaigned, Mr. Obama’s platform included “Fully Funding the Individuals with Disabilities Education Act”:

Fully Funding the Individuals with Disabilities Education Act: Barack Obama has been a strong and consistent advocate for fully funding the Individuals with Disabilities Education Act (IDEA). Congress promised to shoulder 40 percent of each state’s “excess cost” of educating children with disabilities, but it has never lived up to this obligation. Currently, the federal government provides less than half of the promised funding (17 percent). Children are being shortchanged, and their parents are forced to fight with cash-strapped school districts to get the free and appropriate education the IDEA promises their children. Fully funding IDEA will provide students with disabilities the public education they have a right to, and school districts will be able to provide services without cutting into their general education budgets. In addition to fully funding IDEA, Barack Obama and Joe Biden will ensure effective implementation and enforcement of the Act.

The 2011 proposed budget by Mr. Obama had this language (as I noted in 2010):

The $12.8 billion request for Special Education programs focuses on improving educational and early intervention outcomes for children with disabilities. For the Grants to States program, the Administration is requesting $11.8 billion, an increase of $250 million over the 2010 appropriation, to maintain the Federal contribution toward meeting the excess cost of special education at about 17 percent of the national average per pupil expenditure (APPE), and provide an estimated average of $1,750 per student for about 6.7 million children ages 3 through 21. Funding for the Grants for Infants and Families and Preschool Grants programs would be maintained at their 2010 levels

Which kept funding levels at about the same 17%, not the 40% level committed

For the 2013 budget, Mr. Obama proposes:

Increase Funding for the Education of Children with Disabilities. The Budget provides $11.6 billion for the Individuals with Disabilities Education Act (IDEA) Grants to States to provide a high quality education and help offset State and local education costs for children with disabilities. The Budget also provides a $20 million, or 5 percent, increase for the IDEA Infants and Families Program to provide the youngest children a good start. In addition, the Budget provides $30 million, a $28 million increase over 2012, for PROMISE (Promoting Readiness of Minors in SSI), a four agency joint pilot program, to fund and evaluate innovative approaches to improving outcomes of children receiving Supplemental Security Income and their families.

Yes, $11.6B. Less than the 2011 budget amount of $11.8B and, again, not the 40% of the campaign promise.

The intent of special education legislation has always included Federal funding for the states. What we now call IDEA (the Individuals with Disabilities in Education Act) started out as the “Education For All Handicapped Children Act“, which, itself, is the short name for the bill. The full name for the bill was: “A bill to provide financial assistance to the States for improved educational services for handicapped children.” Pretty clear there.

But congress gave themselves an out. Two outs, really. The summary of the bill states:

Education for All Handicapped Children Act – Extends the provisions of the Education of the Handicapped Act through fiscal year 1977 and authorizes appropriations for such years.

And there you see one of the “outs” the government has with not paying their full commitment. The law “authorizes appropriations”. In other words, they give themselves permission to add it to the budget–but they don’t *require* that it be added to the budget. It’s common language (as I recall, “authorizing appropriations” is in the Combating Autism Act as well).

Here’s the second “out” the legislature used. In the original version of the bill (House Resolution 7217) the law read:

Provides that the Commissioner of Education shall, in accordance with provisions of the Education of the Handicapped Act, make payments to State educational agencies for grants made for assistance in providing full educational opportunity to all handicapped children. States that such allotments shall be in an amount equal to the product of the number of handicapped children in the school district of the local educational agency who are enrolled in programs of free appropriate public education meeting the criteria established in this Act, and 50 percent of the average per pupil expenditure in public elementary and secondary schools in the United States.

They were going to pay 50% of the cost of special education. (special education funding is about twice that of regular education. So by granting the states an additional 50% per special ed student, they are paying 1/2 the funding difference). But the House version of the law was tabled in favor of the senate law

States that the maximum amount of the grant to which a State is entitled under such Act shall equal the number of handicapped children aged three to twenty-one, who are receiving special education in such State, multiplied by a percentage of the average per pupil expenditure in public elementary and secondary schools in the United States. Increases such percentage from 5 to 40 percent by 1982.

While the law is promoted as committing to ramp up the Federal contribution to 40%, congress only committed themselves to a “maximum” of 40%.

Mr. Obama isn’t the first to acknowledge that we have not lived up to our obligation, our commitment. For example, House Resolution 976 in 2001 was the “IDEA Keeping Our Commitment Act of 2001” had the goal “To authorize appropriations for the Individuals with Disabilities Education Act to achieve full funding in fiscal year 2002 and fiscal year 2003, and for other purposes.” It died in committee. As did the “Keeping Our Promises to Special Education Act of 2001″ or the “Keep Our PACT Act” or the “IDEA Full Funding Act” and many other attempts to fulfill the promise.

So congress made the commitment but they gave themselves the ability to dodge that commitment. Many, including President Obama, have recognized that a promise is a promise. They recognize that congress’ stated goal 37 years ago was “A bill to provide financial assistance to the States for improved educational services for handicapped children”. From Mr. Obama’s campaign platform quoted above:

Fully Funding the Individuals with Disabilities Education Act: Barack Obama has been a strong and consistent advocate for fully funding the Individuals with Disabilities Education Act (IDEA). Congress promised to shoulder 40 percent of each state’s “excess cost” of educating children with disabilities, but it has never lived up to this obligation.

With the budget for the final year of Mr. Obama’s first term submitted, we as a people are still not living up to the promise, the obligation. Mr. Obama included a one-time boost for special education in the economic stimulus package. While this is highly disappointing, the sad fact is that should Mr. Obama not be re-elected, the chances for fully-funded special education will be even worse.

Spontaneous Gene Glitches Linked to Autism Risk with Older Dads

4 Apr

Below is a press release from the National Institutes of Health (NIH) in the U.S.. on recently published studies on autism risk. These are the studies mentioned by NIMH Director and IACC chair Thomas Insel in his article “The New Genetics of Autism – Why Environment Matters“.

Spontaneous Gene Glitches Linked to Autism Risk with Older Dads
Non-Inherited Mutations Spotlight Role of Environment – NIH-Supported Study, Consortium

Researchers have turned up a new clue to the workings of a possible environmental factor in autism spectrum disorders (ASDs): fathers were four times more likely than mothers to transmit tiny, spontaneous mutations to their children with the disorders. Moreover, the number of such transmitted genetic glitches increased with paternal age. The discovery may help to explain earlier evidence linking autism risk to older fathers.

The results are among several from a trio of new studies, supported in part by the National Institutes of Health, finding that such sequence changes in parts of genes that code for proteins play a significant role in ASDs. One of the studies determined that having such glitches boosts a child’s risk of developing autism five to 20 fold.

Taken together, the three studies represent the largest effort of its kind, drawing upon samples from 549 families to maximize statistical power. They reveal sporadic mutations widely distributed across the genome, sometimes conferring risk and sometimes not. While the changes identified don’t account for most cases of illness, they are providing clues to the biology of what are likely multiple syndromes along the autism spectrum.

“These results confirm that it’s not necessarily the size of a genetic anomaly that confers risk, but its location – specifically in biochemical pathways involved in brain development and neural connections. Ultimately, it’s this kind of knowledge that will yield potential targets for new treatments,” explained Thomas, R. Insel, M.D., director of the NIH’s National Institute of Mental Health (NIMH), which funded one of the studies and fostered development of the Autism Sequencing Consortium, of which all three groups are members.

Multi-site research teams led by Mark Daly, Ph.D., of the Harvard/MIT Broad Institute, Cambridge, Mass., Matthew State, M.D., Ph.D., of Yale University, New Haven, Conn., and Evan Eichler, Ph.D., of the University of Washington, Seattle, report on their findings online April 4, 2012 in the journal Nature.

The study by Daly and colleagues was supported by NIMH – including funding under the American Recovery and Reinvestment Act. The State and Eichler studies were primarily supported by the Simons Foundation Autism Research Initiative. The studies also acknowledge the NIH’s National Human Genome Research Institute, National Heart Lung and Blood Institute, and National Institute on
Child Health and Human Development and other NIH components.

All three teams sequenced the protein coding parts of genes in parents and an affected child – mostly in families with only one member touched by autism. One study also included comparisons with healthy siblings. Although these protein-coding areas represent only about 1.5 percent of the genome, they harbor 85 percent of disease-causing mutations. This strategy optimized the odds for detecting the few spontaneous errors in genetic transmission that confer autism risk from the “background noise” generated by the many more benign mutations.

Like larger deletions and duplications of genetic material previously implicated in autism and schizophrenia, the tiny point mutations identified in the current studies are typically not inherited in the conventional sense – they are not part of parents’ DNA, but become part of the child’s DNA. Most people have many such glitches and suffer no ill effects from them. But evidence is building that such mutations can increase risk for autism if they occur in pathways that disrupt brain development.
State’s team found that 14 percent of people with autism studied had suspect mutations – five times the normal rate. Eichler and colleagues traced 39 percent of such mutations likely to confer risk to a biological pathway known to be important for communications in the brain.

Although Daly and colleagues found evidence for only a modest role of the chance mutations in autism, those pinpointed were biologically related to each other and to genes previously implicated in autism.

The Eichler team turned up clues to how environmental factors might influence genetics. The high turnover in a male’s sperm cells across the lifespan increases the chance for errors to occur in the genetic translation process. These can be passed-on to the offspring’s DNA, even though they are not present in the father’s DNA. This risk may worsen with aging. The researchers discovered a four-fold marked paternal bias in the origins of 51 spontaneous mutations in coding areas of genes that was positively correlated with increasing age of the father. So such spontaneous mutations could account for findings of an earlier study that found fathers of boys with autism were six times – and of girls 17 times – more likely to be in their 40’s than their 20’s.

“We now have a path forward to capture a great part of the genetic variability in autism – even to the point of being able to predict how many mutations in coding regions of a gene would be needed to account for illness,” said Thomas Lehner, Ph.D., chief of the NIMH Genomics Research Branch, which funded the Daly study and helped to create the Autism Sequencing Consortium. “These studies begin to tell a more comprehensive story about the molecular underpinnings of autism that integrates previously disparate pieces of evidence.”

References
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. April 5, 2012. Nature.
O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. April 5, 2012.
Neale BM, Kou Y, Liu L, Ma’ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shair K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. April 5, 2012.
###
The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery and cure. For more information, visit the NIMH website.
About the National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit the NIH website.

Thomas Insel: The New Genetics of Autism – Why Environment Matters

4 Apr

Thomas Insel is the director of the National Institute of Mental Health (NIMH) and the chair of the Interagency Autism Coordinating Committee (IACC) in the U.S..

His article can be found here (The New Genetics of Autism – Why Environment Matters) and I have quoted it in full bellow. (As a government publication I feel that it is appropriate to use the entire piece):

Last week’s autism news was about prevalence. The CDC reported a 78 percent increase in autism prevalence since 2002. This week’s autism news is about genetics—three papers in Nature describe new genes associated with autism. For many people, these two stories seem contradictory or, at best, unrelated. Increasing prevalence suggests environmental factors like chemicals and microbes changing over the past decade, whereas genes change over generations. Why is anyone looking for genetic causes when there is such a rapid increase in prevalence? Shouldn’t every research dollar be invested in finding the environmental culprit rather than searching for rare gene variants?

The simple answer is that some autism is genetic. Autism, like schizophrenia and mood disorders, includes many syndromes. Indeed, we should probably speak of the “autisms.” Some of these autisms are single gene disorders, such as Fragile X, tuberous sclerosis, and Rett syndrome. While these rare genetic disorders account for less than 5 percent of children within the autism spectrum, children with any of these disorders are at high risk for autism, roughly a 30-fold higher risk than the general population and higher than any of the other known risk factors. Recent genomics research has discovered that many children diagnosed within the autism spectrum have other genetic mutations that have not yet been designated as named syndromes. Each of these mutations is rare, but in aggregate they may account for 10 – 20 percent or more of what we have been calling the autisms.1

The new papers published today in Nature use an approach called whole exome sequencing, mapping every base of DNA across the exome—the 1.5 percent of the genome known to code for protein. The three research groups are members of the Autism Sequencing Consortium (ASC), an international team of autism genetics researchers. All three look for de novo or spontaneous mutations, changes in DNA sequence that are not found in either parent. Recent sequencing studies in the general population have demonstrated that each of us diverges genomically from our parents — the process of reproduction introduces variation even beyond the random mixture of the genomes we inherit from mom and dad. People with autism and schizophrenia are far more likely to have large de novo copy number variants, sometimes a million bases of DNA that are abnormally duplicated or deleted and not found in either parent.
These new papers go beyond the previous discovery of de novo copy number variants to identify de novo single base changes associated with autism. This is tough sailing because there are so many of these changes in all of us and most of these single base changes have no impact. These studies tried to improve the odds of success by focusing on individuals from families with no one else affected (these are called “simplex” families), and sometimes comparing the individual with autism to a sibling without autism. The results are intriguing.

There is no breakthrough or single gene that is a major new cause of autism. But the role of genetics becomes even more evident when these single base changes are considered. For instance, an individual with autism is nearly 6-fold more likely to have a functional variant in genes expressed in the brain. Sanders et al. estimate as many as 14 percent of affected individuals have such a risk variant.2 This 14 percent is in addition to the 10–20 percent with a large copy number variant or identified genetic syndrome. O’Roak et al. find that 39 percent of these variants are related to a specific biochemical pathway, important for brain signaling.3 And Neale et al., while cautioning that the net effect of all of these changes still leave much of the risk for autism unexplained, note the roles of a few specific genes as genuine risk factors.4

Stepping back from this flood of genomic information, what is most important? First, these reports along with previous publications confirm that genetic risk is both complex and substantial. While individual genes appear to confer limited risk, the aggregate effect of spontaneous coding mutations across the genome is now estimated to increase the risk of autism by 5–20-fold.4 Complex genetics does not mean modest effects.

Second, the kinds of small and large genetic changes associated with autism are common in everyone. Risk is conferred not by the size of the mutation or the number of mutations (we all have many) but by the location. Increasingly, we see that interference with the genes involved in development of synapses confer risk; a similar change upstream or downstream does not.
A third point takes us back to the questions we started with. It is important to understand that de novo mutations may represent environmental effects. In other words, environmental factors can cause changes in our DNA that can raise the risk for autism and other disorders. One of these papers reports that spontaneous changes are four times more likely to show up in paternally inherited DNA and are correlated with paternal age.2 The father’s germline, his sperm cells, turn over throughout the lifespan. Presumably, with advancing paternal age, there are a greater number of spontaneous mutations and a greater likelihood that some of these will affect risk genes. Environmental factors and exposures can cause sperm cells to develop mutations that are not found in the father’s somatic, or body cell, DNA, but these new, spontaneous mutations can be passed to the next generation, raising the risk for developing autism. In the initial report of the relationship between autism and paternal age, boys with autism were 6-fold more likely to have a father in his 40s vs his 20s. In girls with autism, this difference went up to 17-fold.5 Paternal age has, of course, increased in the past few decades. This does not explain the increasing prevalence of autism, but it may contribute.

Is autism genetic or environmental? These new studies suggest it can be both. Genetics will not identify the environmental factors, but it may reveal some of the many syndromes within the autism spectrum (as in other neurodevelopmental disorders), it can define risk (as in other medical disorders), and it should yield clues to the biology of autism (revealing potential targets for new treatments). These three new papers on spontaneous mutations are an important milestone in a long journey. In parallel we need to find environmental factors, recognizing that there will be many causes for the autisms and many roads to find them.

Finally, an unavoidable insight from these new papers is that autism even when genetic may be spontaneous and not inherited in the sense that one or both parents carry some reduced form of the syndrome. Perhaps this insight will finally reduce the “blame the parents” legacy perpetuated for too long in the absence of scientific evidence.

References
1Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci. 2011 Sep;15(9):409-16. Epub 2011 Aug 18. PubMed PMID: 21855394.1
2Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. April 5, 2012. Nature.
3O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. April 5, 2012.
4Neale BM, Kou Y, Liu L, Ma’ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shair K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. April 5, 2012.
5Reichenberg A, Gross R, Weiser M, Bresnahan M, Silverman J, Harlap S, Rabinowitz J, Shulman C, Malaspina D, Lubin G, Knobler HY, Davidson M, Susser E. Advancing paternal age and autism. Arch Gen Psychiatry. 2006 Sep;63(9):1026-32. PubMed PMID: 16953005.

A summary of the CDC autism prevalence report

3 Apr

In case you don’t have the time to review the full recent CDC prevalence report but you’d like some more information, I’ve written a summary of the CDC report at the Autism Science Foundation blog. The CDC has provided a lot of analysis in this edition of the prevalence report.

A couple brief side points I’ll make here. Most countries have no autism prevalence studies. There is basically no prevalence information for autism in Africa or South America, for example. And, while it takes a long time between prevalence reports by the CDC, consider this paragraph:

The 14 ADDM sites that provided data for the 2008 surveillance year covered a total population of 337,093 children aged 8 years, which represented 8.4% of the U.S. population of children that age in 2008 (13). A total of 48,247 source records for 38,253 children were reviewed at education and health sources. Of these, the source records of 6,739 children met the criteria for abstraction, which was 17.5% of the total number of children whose source records were reviewed and 2% of the total population under surveillance (range: 1.0% [Alabama]–6.3% [Utah]). During clinician review, 3,820 children (57%) were confirmed as meeting the ASD surveillance case definition (range: 30% [Arkansas]–74% [North Carolina]). The number of evaluations abstracted for each child ultimately identified as having an ASD varied (median: 5; range: 3 [Florida and North Carolina]–10 [Utah].

48,247 records were reviewed. If one gives 10 minutes per document for collection and review, that’s something like three full-time man-years for that effort alone. Yeah, we’d all like the process to go faster. But we all need the report to be as accurate as possible. This is no small task.

TPGA Welcomes Five New Affiliate Editors

30 Mar

The Thinking Person’s Guide to Autism has added five new editors.

They are:

Kerima Cevik
Rachel Cohen-Rottenberg
Rob Gross
Kassiane Sibley
Sandy Yim

There are brief bios for each on the TPGA website: TPGA Welcomes Five New Affiliate Editors

This looks to be an excellent addition to their team.

HHS announces new members of the Interagency Autism Coordinating Committee

29 Mar

The U.S. Department of Health and Human Services has announced the public membership for the Interagency Autism Coordinating Committee (IACC). The press release is below.

HHS announces new members of the Interagency Autism Coordinating Committee
Health and Human Services (HHS) Secretary Kathleen Sebelius announced today that she has invited 15 individuals to serve as public members on the Interagency Autism Coordinating Committee (IACC). 

The IACC is a federal advisory committee established by the Combating Autism Act of 2006 and reauthorized by the Combating Autism Reauthorization Act of 2011.  The committee is composed of both federal officials and public members, and is charged with (1) coordinating all efforts within HHS concerning autism spectrum disorder (ASD), (2) developing and annually updating a strategic plan for ASD, and (3) providing advice to the Secretary on matters related to ASD.

Membership of the committee includes a wide array of federal agencies involved in ASD research and services, as well as public stakeholders who represent a variety of perspectives from within the autism community.  This makeup of the IACC membership is designed to ensure that the committee is equipped to address the wide range of issues and challenges faced by families and individuals affected by autism.

“The individuals invited to serve on the Interagency Autism Coordinating Committee represent people on the autism spectrum, autism advocates, parents, clinicians, and researchers from across the country,” Secretary Sebelius said. “I look forward to working with the committee members to make a real difference in the lives of people with autism and their families.”

The individuals invited to serve on the Interagency Autism Coordinating Committee, subject to prescribed appointment procedures, include:

Idil Abdull

Ms. Idil Abdull is the parent of a son with autism and Co-Founder of the Somali American Autism Foundation. As a Somali-American mother, she has worked to raise awareness about the high prevalence of autism among Somali immigrants living in Minnesota and has helped to change autism policies in the state. She also has a special interest in serving as a voice for underrepresented groups more broadly, including those that are struggling with language, cultural, and economic barriers as they seek ways to help their family members with disabilities. Ms. Abdull holds a bachelor’s degree in Health Care Administration.

James Ball

Dr. Jim Ball is a Board Certified Behavior Analyst (BCBA-D) who is the President and CEO of JB Autism Consulting. He has worked in the private sector field of autism for more than 25 years, providing educational, employment, and residential services to children and adults affected with autism. He is a Board member of the Autism Society’s (AS) Board of Directors and is currently the Chair of the National Board. He received his doctorate of education from Nova Southeastern University in Fort Lauderdale, Florida.

Anshu Batra

Dr. Anshu Batra is a developmental pediatrician specializing in autism and early childhood developmental disorders and is the mother of two sons with autism spectrum disorder. She currently works in a private practice that provides medical services to more than 600 patients with developmental disabilities, the majority of whom have an autism diagnosis. The practice is unique not only in terms of the racial, ethnic, and socio-economic diversity of its patients, but also in its scope. Dr. Batra has become an outspoken advocate to educate both the professional and lay communities about autism and considers how to best integrate a growing subpopulation of individuals on the spectrum into society. She received her M.D. from the University of Michigan and trained in Pediatrics at the University of North Carolina at Chapel Hill. 

Noah Britton

Mr. Britton was diagnosed with Asperger’s syndrome a decade ago as a freshman in college and has spent every year since working directly with people on the spectrum. He is an Adjunct Professor of Psychology at Bunker Hill Community College and has presented on autism as a guest lecturer at the University of Virginia and Tufts University. Prior to that Mr. Britton worked directly with teenagers on the spectrum as head counselor for the Northeast ARC’s Spotlight program and as a drama teacher at the New England Academy in Massachusetts. Mr. Britton currently serves on the scientific/educational advisory board of the Autism Higher Education Foundation. He received his master’s degree in psychology from Hunter College in 2010.   

Sally Burton-Hoyle

Dr. Sally Burton-Hoyle, sister to a person on the autism spectrum, has focused her life and career on improving the education of people with autism and other challenging behaviors. She serves as area coordinator of the Masters of Autism Spectrum Disorders program at Eastern Michigan University (EMU). This program is based on Positive Behavioral Supports and family/community involvement. Dr. Burton-Hoyle has been at EMU since 2006 and was Executive Director of the Autism Society of Michigan prior to EMU. In addition, she has classroom experience as a special education teacher. Dr. Burton-Hoyle holds a doctorate in education from the University of Idaho and a master’s degree in special education from the University of Kansas.

Matthew Carey

Dr. Matthew Carey is the father of a young child with multiple disabilities, including autism spectrum disorder, and is a frequent contributor to the Left Brain/Right Brain blog and the Autism Science Foundation Blog. His writing focuses on reviewing current autism research in an understandable way for the public and he is deeply committed to communicating the importance of getting the science right for autism. He is also interested in analyzing trends in health and education public datasets.  Dr. Carey is an active industrial researcher in computer hardware whose current research interests include magnetic thin films, spintronics, and magnetic nanostructures. He received his Ph.D. in Physics from the University of California, San Diego, and his M.S. in Physics from the University of Illinois, Urbana-Champaign.

Dennis Choi

Dr. Dennis Choi is the Executive Vice President of the Simons Foundation, the second largest funder of autism research, and he was previously a member of the Foundation’s Scientific Advisory Board. His past positions have included Vice President of Academic Health Affairs at Emory University, Executive Vice President of Neuroscience at Merck Research Labs, and professor and head of Neurology at Washington University Medical School. His research experience has included work on the physiological mechanism of action of benzodiazepine drugs and the processes responsible for nerve cell death after ischemic or traumatic insults. His research on mechanisms of brain and spinal cord injury has been recognized with several awards. Dr. Choi received his M.D. from the Harvard-MIT Health Sciences and Technology Program, as well as a Ph.D. in pharmacology and neurology residency/fellowship training from Harvard University, before joining the faculty at Stanford University School of Medicine from 1983-1991.

Jose Cordero

Dr. Corderois the Dean of the Graduate School of Public Health at the University of Puerto Rico. Prior to this appointment, Dr. Cordero was an Assistant Surgeon General of the Public Health Service and the Founding Director of the National Center on Birth Defects and Developmental Disabilities (NCBDDD) at the Centers for Disease Control and Prevention (CDC) in Atlanta, Georgia. He served in this capacity since the establishment of the center on April 16, 2001. Dr. Cordero worked for 27 years at the CDC and has extensive public health experience in the fields of birth defects, developmental disabilities, and child health.  He obtained his medical degree from the University of Puerto Rico in 1973, completing residency training in pediatrics at Boston City Hospital and a fellowship in medical genetics at the Massachusetts General Hospital. In 1979, Dr. Cordero obtained a Masters in Public Health from Harvard University.

Jan Crandy

Ms. Jan Crandy is a case manager for the Nevada State Autism Treatment Assistance Program (ATAP) and has been a leader in raising awareness and treating autism spectrum disorders in Nevada for more than 15 years. She is a dedicated advocate and parent of a child with autism. In her current position at ATAP, Ms. Crandy manages and develops programs for more than 65 children with ASD. In 2007, Ms. Crandy was appointed to the Nevada Autism Task Force by Governor Jim Gibbons. In that role, Ms. Crandy helped develop policy recommendations for state policymakers on ways to improve the delivery and coordination of autism services in Nevada. She also serves as Chair of the Nevada Commission on Autism Spectrum Disorders. Ms. Crandy began her career in advocacy in 1996 when her daughter was diagnosed with autism. With the support of family and friends, Ms. Crandy started a nonprofit organization called Families for Early Autism Treatment (FEAT) to help parents of children with ASD in Southern Nevada.

Geraldine Dawson

Dr. Dawson is the Chief Science Officer for Autism Speaks, where she works with the scientific community and other stakeholders to shape and expand the organization’s scientific vision. In addition to her work with Autism Speaks, Dr. Dawson holds the positions of Research Professor of Psychiatry at the University of North Carolina at Chapel Hill, Adjunct Professor of Psychiatry at Columbia University, and Professor Emeritus of Psychology at University of Washington. Dr. Dawson is a licensed clinical psychologist who has published extensively on autism spectrum disorders, focusing on early detection and intervention and early patterns of brain dysfunction. In collaboration with Dr. Sally Rogers, Dawson helped to develop and empirically-validated the Early Start Denver Model, the first comprehensive early intervention program for toddlers with autism. She has collaborated on numerous studies of brain development and function and genetic risk factors in autism. From 1996-2008, Dr. Dawson was Founding Director of the University of Washington Autism Center where she directed three NIH Autism Center of Excellence Award programs of research focusing on genetics, neuroimaging, early diagnosis, and clinical trials. Dr. Dawson has served as a public member on the Interagency Autism Coordinating Committee since 2010 and has been invited to continue her service.  Dr. Dawson received her Ph.D. in Developmental Psychology with a minor in Child Clinical Psychology from the University of Washington.

David Mandell

Dr. David Mandell is a health services researcher and psychiatric epidemiologist who seeks to identify the best ways to organize, finance and deliver services to children with psychiatric and developmental disabilities. He is an Associate Professor of Psychiatry and Pediatrics at the University of Pennsylvania’s School of Medicine. The goal of his current research is to improve care for children with autism and their families by developing successful interventions at the individual, provider and system levels to decrease the age at which children with autism are recognized and enter treatment, and to improve the services and supports available to them and their families.  Dr. Mandell holds a bachelor of arts in psychology from Columbia University and a doctorate of science from the Johns Hopkins School of Hygiene and Public Health.

Lyn Redwood

Ms. Lyn Redwood is Co-Founder and Executive Director of the Coalition for SafeMinds and Co-Founder of the National Autism Association (NAA). She became interested in autism research and advocacy when her son was diagnosed with Pervasive Developmental Disorder. Ms. Redwood served on the Department of Defense Autism Spectrum Disorder Research Program from 2007-2009 and was acknowledged for a decade of service by Spectrum Magazine as their Person of the Year in 2009. Ms. Redwood has served as a public member on the Interagency Autism Coordinating Committee since 2007 and has been invited to continue her service.  Ms. Redwood holds a Master’s of Science in Nursing from University of Alabama and is a registered nurse in the state of Georgia.

Scott Michael Robertson

Mr. Scott Michael Robertson co-founded the Autistic Self Advocacy Network (ASAN) in 2006 and currently serves as ASAN’s Vice Chair of Development. Mr. Robertson, an adult on the autism spectrum, is currently a Ph.D. Candidate in information sciences and technology at Penn State University’s University Park campus. His research pursuits in the fields of disability studies, human-computer interaction, and computer supported work/learning focus on understanding and improving the lives of people with neurological and developmental disabilities. Beyond his research, Mr. Robertson has actively served the cross-disability and autism communities as a mentor, teacher, advocate, public speaker, and writer. Mr. Robertson holds a bachelor’s degree in computer science from Rensselaer Polytechnic Institute and a master’s degree in human-computer interaction from Carnegie Mellon University.

John Elder Robison

John Elder Robison is an adult on the autism spectrum who grew up in the 1960s before the Asperger diagnosis came into common use. At age sixteen, Mr. Robison left high school to join his first band as a sound engineer. Within a few years he was building equipment for Pink Floyd’s sound company, touring the hockey rinks of Canada with April Wine, and creating the signature special effects guitars for the rock band, KISS. John went on to design sound effects and other circuits for some of the most popular electronic games and toys of the era before moving into more conventional engineering management. In the late 1980s, John left electronics for a new career – cars. His company, J E Robison Service, grew to be one of the largest independent restoration and service specialists for BMW, Bentley, Jaguar, Land Rover, Mercedes, and Rolls Royce cars. Mr. Robison is an adjunct faculty member in the Department of Communication Sciences and Disorders at Elms College in Chicopee, Massachusetts; speaks publicly about his experience as a person on the autism spectrum; and is the author of popular books about living life with autism, Look Me in the Eye, My Life with Asperger’s, and Be Different, Adventures of a Free-Range Aspergian.

Alison Singer

Ms. Alison Singer is Co-Founder and President of the Autism Science Foundation, a not-for-profit organization launched in April 2009 to support autism research. The Autism Science Foundation supports autism research by providing funding and other assistance to scientists and organizations conducting, facilitating, publicizing and disseminating autism research. Ms. Singer is the mother of a daughter with autism and legal guardian of her adult brother with autism. From 2005-2009 she served as Executive Vice President and a Member of the Board of Directors at Autism Speaks. Ms. Singer has served as a public member on the Interagency Autism Coordinating Committee since 2007 and has been invited to continue her service.  Ms. Singer graduated magna cum laude from Yale University with a B.A. in Economics and has an M.B.A. from Harvard Business School.

Public announcement of the formal appointments of federal and public members to the IACC will follow in the coming weeks.

More information about the Interagency Autism Coordinating committee is available at: http://iacc.hhs.gov

Autism Prevalence: More Affected or More Detected?

29 Mar

Tom Insel, director of the U.S. National Institute of Mental Health and Chair of the Interagency Autism Coordinating Committee has published a blog article coinciding with the CDC announcement of 1 in 88 estimated prevalence.

As a government publication, I feel it is OK to copy it here in total, but you are encouraged to read it on the NIMH website: Autism Prevalence: More Affected or More Detected?

Autism is always surprising. Earlier today, the CDC released new numbers from their ongoing surveillance of autism prevalence, the Autism and Developmental Disability Monitoring (ADDM) Network. What was once considered a rare disorder is now reported as affecting 1 in 88 children, 1 in 54 boys. These new numbers, up 78 percent from 2002 and 23 percent from 2006, raise immediate questions. Are more children affected or more detected? Does the increase reflect a growing problem, or do these new numbers reflect an improvement in our ability to diagnose and serve those affected?

These new data do not answer these questions. The CDC surveillance project focuses on 8-year-olds identified in 2008; that is, children who were born in 2000. By definition, autism begins before age 3, so a focus on 8-year-olds should capture anyone who was identified and still has a diagnosis. The prevalence numbers are based on a standardized assessment of descriptions of behaviors culled from administrative or health records from select communities, not on standardized diagnostic interviews in the general population. The strength of this approach is its wide reach, allowing a comparison across 14 states. The CDC reports a four-fold variation across sites. These new results, as with those from other records-based surveillance systems, do not answer questions related to why the identified prevalence of autism has changed over time.

Other research suggests a complicated picture. A total population study of all 7–12-year-olds in a town in South Korea (more than 55,000 children) used standardized diagnostic instruments for children who screened positive and reported a prevalence of 2.64 percent.1 That is 1 in 38 children! There is no reason to expect that this prevalence is unique to this community. To be sure, two-thirds of these children had never received a diagnosis of autism spectrum disorder (ASD), meaning that the identified prevalence was closer to 1 percent or one in 100, roughly the same prevalence reported in the United States. From this perspective, the increase reported by the CDC might mean we are better at detecting children who meet criteria for ASD, but potentially we still are only halfway to the actual prevalence in the general population. Indeed, the biggest increase in the CDC surveillance report was in Hispanic and African American children, groups which previously had low rates of detection.

But can we be certain that more children are not affected? Data from the Developmental Disability Services registry in California demonstrates a 12-fold increase in the number of children receiving services for autism over the past 20 years, with a continuing rise recently. But these data, while dramatic, cannot rule out increased use of the diagnosis. Bearman and colleagues who have studied the California trends suggest that only about 26 percent of this increase can be explained by diagnostic substitution, especially for the most severe cases — children with intellectual deficits — which may not have been identified as autism in an earlier era. Another fraction can be attributed to better ascertainment or detection especially for children at the less severe end of the spectrum. Together these factors explain only a part of the linear increase observed in the California registry. In the absence of other explanations they and others suggest that a real increase is quite likely.2, 3, 4

Which makes a recent report from England especially surprising. In a careful epidemiological study based on a national sample (n = 7,461 adults) from 2007, Brugha and colleagues did careful diagnostic assessments based on standardized interviews. They found that familiar rate of about 1 percent in adults across the entire age range without a significant reduction in the older part of the sample as one would expect if the prevalence had increased in recent years.5

This takes us back to the central question: has the number of children with ASD increased or not? Total population epidemiological studies suggest much or all of the increase is due to better and wider detection. Studies of administrative and services data suggest that better detection cannot fully explain the profound and continuing increase. Are we seeing more affected or more detected? The question is vitally important, but there is not one, simple answer just as autism is not a single, simple disorder.

If there is an increase in the number affected, then we need to find the causal factors to bend the curve. Analogous increases in food allergies, asthma, and Type 1 diabetes have provoked an aggressive search for environmental causes. If the number of children with ASD has not changed, but we are diagnosing and serving 12-fold more of them over the past two decades, then we need to focus on better diagnosis and treatments rather than looking for new environmental factors driving the precipitous increase.

Science can resolve this dilemma, but the methods to examine this question as well as the answers will be complex. While it is never possible to go back in time, longitudinal population based studies and even careful retrospective studies can determine if more children are affected and if the nature of the disorder is changing over time. The changes in prevalence of other developmental disorders, measured with biomarkers (Type 1 diabetes) or emergency room visits (food allergies), appear to be true increases in the number of children affected. As diagnostic changes and ascertainment fail to explain the majority of the increase in autism prevalence, it seems prudent to assume that there are indeed more children affected and continue an aggressive search for causes while striving to improve detection, treatments, and services. Our working assumption is that there are both more children affected and more detected.

References

1Kim YS, Leventhal BL, Koh YJ, Fombonne E, Laska E, Lim EC, Cheon KA, Kim SJ, Kim YK, Lee H, Song DH, Grinker RR. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011 Sep;168(9):904-12. Epub 2011 May 9. PubMed PMID: 21558103.
2King M, Bearman P. Diagnostic change and the increased prevalence of autism. Int J Epidemiol. 2009 Oct;38(5):1224-34. Epub 2009 Sep 7. PubMed PMID: 19737791; PubMed Central PMCID: PMC2800781.
3Keyes KM, Susser E, Cheslack-Postava K, Fountain C, Liu K, Bearman PS. Cohort effects explain the increase in autism diagnosis among children born from 1992 to 2003 in California. Int J Epidemiol. 2011 Dec 7. [Epub ahead of print] PubMed PMID: 22253308.
4Bresnahan M, Li G, Susser E. Hidden in plain sight. Int J Epidemiol. 2009 Oct;38(5):1172-4. PubMed PMID: 19797336.
5Brugha TS, McManus S, Bankart J, Scott F, Purdon S, Smith J, Bebbington P, Jenkins R, Meltzer H. Epidemiology of autism spectrum disorders in adults in the community in England. Arch Gen Psychiatry. 2011 May;68(5):459-65. PubMed PMID: 21536975.

CDC estimates 1 in 88 children in United States has been identified as having an autism spectrum disorder

29 Mar

The CDC has released the latest autism prevalence estimate. The estimate from children born in 2000 and using data from when they are 8 years old (2008) is 1 in 88, a 23% increase over the previous estimate (1 in 110 for children born in 1998). Here is the CDC press release.

CDC estimates 1 in 88 children in United States has been identified as having an autism spectrum disorder

CDC data help communities better serve these children

The Centers for Disease Control and Prevention estimates that 1 in 88 children in the United States has been identified as having an autism spectrum disorder (ASD), according to a new study released today that looked at 2008 data from 14 communities. Autism spectrum disorders are almost five times more common among boys than girls – with 1 in 54 boys identified.

The number of children identified with ASDs ranged from 1 in 210 children in Alabama to 1 in 47 children in Utah. The largest increases were among Hispanic and black children.

The report, Prevalence of Autism Spectrum Disorders – Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008, provides autism prevalence estimates from 14 areas. It was published today in the Morbidity and Mortality Weekly Report.

“This information paints a picture of the magnitude of the condition across our country and helps us understand how communities identify children with autism,” said Health and Human Services (HHS) Secretary Kathleen Sebelius. “That is why HHS and our entire administration has been working hard to improve the lives of people living with autism spectrum disorders and their families by improving research, support, and services.”

“One thing the data tells us with certainty – there are many children and families who need help,” said CDC Director Thomas Frieden, M.D., M.P.H. “We must continue to track autism spectrum disorders because this is the information communities need to guide improvements in services to help children.”

The results of CDC’s study highlight the importance of the Obama administration’s efforts to address the needs of people with ASDs, including the work of the Interagency Autism Coordinating Committee (IACC) at the U.S. Department of Health and Human Services. The IACC’s charge is to facilitate ASD research, screening, intervention, and education. As part of this effort, the National Institutes of Health has invested in research to identify possible risk factors and effective therapies for people with ASDs.

Study results from the 2008 surveillance year show 11.3 per 1,000 8-year-old children have been identified as having an ASD. This marks a 23 percent increase since the last report in 2009. Some of this increase is due to the way children are identified, diagnosed and served in their communities, although exactly how much is due to these factors is unknown. “To understand more, we need to keep accelerating our research into risk factors and causes of autism spectrum disorders,” said Coleen Boyle, Ph.D., M.S.Hyg., director of CDC’s National Center on Birth Defects and Developmental Disabilities.

The study also shows more children are being diagnosed by age 3, an increase from 12 percent for children born in 1994 to 18 percent for children born in 2000. “Unfortunately, 40 percent of the children in this study aren’t getting a diagnosis until after age 4. We are working hard to change that,” said Boyle.

The most important thing for parents to do is to act quickly whenever there is a concern about a child’s development.

• Talk to your child’s doctor about your concerns.
• Call your local early intervention program or school system for an assessment.
• Remember you do not need a diagnosis to access services for your child.

To learn more about this study, visit http://www.cdc.gov/autism.

For information on CDC’s tools to help families track their child’s development, visit http://www.cdc.gov/actearly

To learn more about the research CDC is doing on autism, visit http://www.cdc.gov/ncbddd/autism/research.html.

To learn more about the Administration’s commitment to combating autism, visit http://www.hhs.gov/autism/factsheet_autism_support.html.

← Older Entries
Newer Entries →