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Christian Science Monitor: Fraud in scientific research: It happens, and cases are on the rise

4 Oct

The Christian Science Monitor has an article out today: Fraud in scientific research: It happens, and cases are on the rise

Of 2,000 retractions of published scientific papers since 1977, 866 were because of fraud, a new study finds. Another 201 were plagiarized. But it’s hard to know if more scientists are cheating, or if detection is simply better.

Is it a real increase, or just better awareness…

Who is their prime example of science fraud? I’m sure you’ve guessed it: Andrew Wakefield. Ironically, on the day when Mr. Wakefield is giving a faux press conference in a public park, the Monitor uses a photo from Mr. Wakefield’s public park appearance during a past AutismOne convention:

Why use Mr. Wakefield as the example? Many reasons come to mind, but the fact that he is probably the most publicly recognizable that the Monitor could have chosen. Also, the Monitor states:

One of the most high-profile examples involved the issue of childhood immunizations.

That paper, which the PNAS [Proceedings of the National Academy of Sciences] study identifies as the most widely cited retracted work, cited research purported to uncover a link between autism and vaccines given to children. The work was published in 1998 in the British medical journal Lancet. Subsequent studies reportedly indicated that the data were fraudulent. Meanwhile, Britain’s General Medical Council stripped the study’s author, Andrew Wakefield, of his status as a “registered medical practitioner” for misconduct after investigating his research effort.

So Mr. Wakefield has the dubious distinction of having written the most cited retracted work. He’s the best at something.

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By Matt Carey

Autism Science Foundation to Develop Brain Tissue Awareness Campaign

3 Oct

One thing I learned at IMFAR last year was that brain tissue is critical to many areas of autism research and that there is very little tissue available for research. OK, that’s two things. This year saw an amazingly sad event where a large number of brain tissue samples were ruined in a freezer failure.

The ASF’s announcement is below and also on their website as Autism Science Foundation to Develop Brain Tissue Donation Awareness Campaign with Support from Simons Foundation

The Autism Science Foundation has received a two-year, $600,000 grant from the Simons Foundation to develop a multi-media campaign designed to increase awareness of the importance of brain tissue donation to further autism research.

“No effort is more important than raising awareness among families and scientists about the need for research on human brain tissue,” said Dr. Gerald Fischbach, Director of the Simons Foundation Autism Research Initiative.

Brain tissue research is critical for developing effective prevention and treatment options for autism but research in this area has lagged because of lack of tissue.

“In every area of medicine,” said Dr. Thomas Insel, Director of the National Institute of Mental Health, “new diagnostics and new treatments have come from studying the affected organ. In autism, we have been challenged by trying to understand a complex neurodevelopmental disorder without having enough brain tissue available for study. In so many ways, our ability to deliver for families with autism depends on the success of this effort.”

ASF President Alison Singer will serve as principal investigator on the project. Prior to founding the Autism Science Foundation, Singer served as Executive Vice President for Communications and Awareness at Autism Speaks, where she developed and co-produced the award-winning “The Odds” autism awareness campaign in conjunction with the Ad Council.

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By Matt Carey

Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children With DSM-IV Diagnoses of Pervasive Developmental Disorders

3 Oct

With much attention focused on the change from DSM-IV to DSM-5 criteria for diagnosing autism, it is good to see more data coming out. As noted only a yesterday (Brief Report: Comparability of DSM-IV and DSM-5 ASD Research Samples) a large number of papers on the effect of the change have been published in 2012.

Add another to the list today: Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children With DSM-IV Diagnoses of Pervasive Developmental Disorders. This paper includes Catherine Lord as one of the authors and includes a large number of individuals (both autistic and non-autistic), with ” 4,453 children with DSM-IV clinical PDD diagnoses and 690 with non-PDD diagnoses (e.g., language disorder)”. In addition, the full paper is available online.

This may be the largest study so far, especially in that it uses recent DSM-5 criteria (earlier studies have used earlier versions).

The current study claims that the “proposed DSM-5 criteria identified 91% of children with clinical DSM-IV PDD diagnoses”. In other words, the large majority of children who are or would be diagnosed autistic under the DSM-IV would be diagnosed autistic under the DSM-5.

I am still unaware of any studies applying the DSM-5 to adults.

Here is the conclusion paragraph:

To our knowledge, this study is the most comprehensive assessment to date of the newly proposed DSM-5 ASD criteria. Based on symptom extraction from previously collected data, our findings indicate that the majority of children with DSM-IV PDD diagnoses would continue to be eligible for an ASD diagnosis under DSM-5. Additionally, these results further suggest that the revisions to the criteria, when applied to records of children with non-PDD diagnoses, yield fewer misclassifications. Our findings also contribute to literature that supports the use of both parent report and clinical observation for optimal classification accuracy.

Here is the abstract:

Objective Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses.

Method Three data sets included 4,453 children with DSM-IV clinical PDD diagnoses and 690 with non-PDD diagnoses (e.g., language disorder). Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview–Revised) and clinical observation instrument (Autism Diagnostic Observation Schedule) were matched to DSM-5 criteria and used to evaluate the sensitivity and specificity of the proposed DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses.

Results Based on just parent data, the proposed DSM-5 criteria identified 91% of children with clinical DSM-IV PDD diagnoses. Sensitivity remained high in specific subgroups, including girls and children under 4. The specificity of DSM-5 ASD was 0.53 overall, while the specificity of DSM-IV ranged from 0.24, for clinically diagnosed PDD not otherwise specified (PDD-NOS), to 0.53, for autistic disorder. When data were required from both parent and clinical observation, the specificity of the DSM-5 criteria increased to 0.63.

Conclusions These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger’s disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation.

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By Matt Carey

Molecular Characterisation of Gastrointestinal Microbiota of Children With Autism (With and Without Gastrointestinal Dysfunction) and Their Neurotypical Siblings.

2 Oct

The possibility that gastrointestinal problems are linked–either causally or a comorbid condition–with autism is a topic of much discussion. Some of this focus results from the failed “leaky-gut” theory of autism causation and the also failed idea that the MMR vaccine causes the “leaky-gut”. Recently groups have started to look at the bacteria in the feces or intestines of autistics. From Wikipedia:

The human body, consisting of about 10 trillion cells, carries about ten times as many microorganisms in the intestines. The metabolic activities performed by these bacteria resemble those of an organ, leading some to liken gut bacteria to a “forgotten” organ. It is estimated that these gut flora have around 100 times as many genes in aggregate as there are in the human genome.

One recent study claimed to find a difference in intestinal bacteria between autistics and non-autistics with gastrointestinal disease. In specific, they claimed that

These findings elevate this little-recognized bacterium to the forefront by demonstrating that Sutterella is a major component of the microbiota in over half of children with autism and gastrointestinal dysfunction (AUT-GI) and is absent in children with only gastrointestinal dysfunction (Control-GI) evaluated in this study.

The authors were careful in their conclusions, mentioning that this finding might shed light on the “extent to which Sutterella may contribute to the pathogenesis of GI disturbances in children with autism”. Note this is different than saying that this sheds light on the origins of autism. This point was missed in some discussions of the study, I’ll point out.

It is odd in that study that Sutterella was not found in the non-autistics in that it has been found in non-autistics previously.

As happens too frequently, one study is followed by another which seems to claim the opposite. The study out recently, Molecular Characterisation of Gastrointestinal Microbiota of Children With Autism (With and Without Gastrointestinal Dysfunction) and Their Neurotypical Siblings, doesn’t find differences between autistics and non-autistics with GI complaints. In this study, the controls were neurotypical siblings of the same autistics. This is good choice as the siblings “share a similar environment”. Here is the abstract:

Many children with autism spectrum disorders (ASDs) suffer from gastrointestinal problems such as diarrhoea, constipation and abdominal pain. This has stimulated investigations into possible abnormalities of intestinal microbiota in autistic patients. Therefore, we designed this study to identify differences (and/or similarities) in the microbiota of children with autism (without gastrointestinal dysfunction: n = 23; with gastrointestinal dysfunction: n = 28) and their neurotypical siblings (n = 53) who share a similar environment using bacterial tag-encoded FLX amplicon pyrosequencing. Regardless of the diagnosis and sociodemographic characteristics, overall, Firmicutes (70%), Bacteroidetes (20%) and Proteobacteria (4%) were the most dominant phyla in samples. Results did not indicate clinically meaningful differences between groups. The data do not support the hypothesis that the gastrointestinal microbiota of children with ASD plays a role in the symptomatology of ASD. Other explanations for the gastrointestinal dysfunction in this population should be considered including elevated anxiety and self-restricted diets.

Emphasis added.

Note that this study claims to discuss the role of microbiota in the symptomology of ASD, not just GI disease in autistics.

There are multiple reasons why a direct comparison of the two studies is not precise, but the general idea is the there, especially to the lay public: one study says there autistics have a specific gut bacteria profile, another says there isn’t. And, so, we will see more studies.

In case you are wondering–do either of these studies have anything to do with Andrew Wakefield’s ideas of measles virus being involved with autism? The answer is clearly no. Unfortunately, many who promote the vaccine-causation link will jump on any study of the digestive system as somehow related to Mr. Wakefield’s hypotheses. Sad, but true.

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By Matt Carey

Brief Report: Comparability of DSM-IV and DSM-5 ASD Research Samples

1 Oct

Probably the most hotly debated topic in autism diagnosis and research this year has involved what changes may occur when the DMS-IV gives way to the DSM-5. The DSM is the Diagnostic and Statistical Manual of Mental Disorders and is used as a basis for determining diagnoses such as autism. There have been discussions (both online and elsewhere) claiming that the DSM is not only going to reduce the fraction of the population diagnosed autistic, but that it is designed to do so. People from many parts of the autism communities are concerned including autistics, parents and professionals.

A few studies have already been published, but more data are needed and welcome. This study focuses on “high functioning ” autistics. I need to get the paper to check the age ranges of the individuals in the study. So far there has been little or no data on autistic adults. That said, this study presents the result that of 498 autistics who currently meet the diagnosis criteria for autism (for research purposes), 93% of them will meet the criteria under the DSM-5.

Such a study can not explore how many who did not get a diagnosis under DSM-IV would get one with DSM-5.

Brief Report: Comparability of DSM-IV and DSM-5 ASD Research Samples

Diagnostic and Statistical Manual (DSM-5) criteria for ASD have been criticized for being too restrictive, especially for more cognitively-able individuals. It is unclear, however, if high-functioning individuals deemed eligible for research via standardized diagnostic assessments would meet DSM-5 criteria. This study investigated the impact of DSM-5 on the diagnostic status of 498 high-functioning participants with ASD research diagnoses. The percent of participants satisfying all DSM-5-requirements varied significantly with reliance on data from the Autism Diagnostic Observation Schedule (ADOS; 33 %) versus Autism Diagnostic Interview-Revised (ADI-R; 83 %), highlighting the impact of diagnostic methodology on ability to document DSM-5 symptoms. Utilizing combined ADOS/ADI-R data, 93 % of participants met DSM-5 criteria, which suggests likely continuity between DSM-IV and DSM-5 research samples characterized with these instruments in combination.

Below is a list of papers listed in pubmed on the DSM-5 and autism. I’ve highlighted some of the abstracts (or parts of abstracts) which show the sorts of results which are causing concern within the communities.

What the DSM-5 Portends for Research, Diagnosis, and Treatment of Autism Spectrum Disorders.

Editorial Perspective: Autism Spectrum Disorders in DSM-5 – An historical perspective and the need for change.

A comparison of diagnostic criteria on the Autism Spectrum Disorder Observation for Children (ASD-OC).
“Conclusion: Many children who are currently diagnosed with ASD may no longer be diagnosed, despite having significant impairments roughly equal to those who meet DSM-5 criteria.”

Postponing the Proposed Changes in DSM 5 for Autistic Spectrum Disorder Until New Scientific Evidence Adequately Supports Them.

Exploring the Proposed DSM-5 Criteria in a Clinical Sample.

The proposed DSM-5 criteria for Autism Spectrum Disorder (ASD) depart substantially from the previous DSM-IV criteria. In this file review study of 131 children aged 2-12, previously diagnosed with either Autistic Disorder or Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), 63 % met the new DSM-5 ASD criteria, including 81 % previously diagnosed with Autistic Disorder and only 17 % of those with PDD-NOS. The proportion of children meeting DSM-5 differed by IQ grouping as well, with higher rates in lower IQ groups. Children who did meet criteria for ASD had significantly lower levels of cognitive and adaptive skills and greater autism severity but were similar in age. These findings raise concerns that the new DSM-5 criteria may miss a number of children who would currently receive a diagnosis.

Loss of autism in DSM-5.

How does relaxing the algorithm for autism affect DSM-V prevalence rates?

Although it is still unclear what causes autism spectrum disorders (ASDs), over time researchers and clinicians have become more precise with detecting and diagnosing ASD. Many diagnoses, however, are based on the criteria established within the Diagnostic and Statistical Manual of Mental Disorders (DSM); thus, any change in these diagnostic criteria can have a great effect upon children with ASD and their families. It is predicted that the prevalence of ASD diagnoses will dramatically decrease with the adoption of the proposed DSM-5 criteria in 2013. The aim of this current study was to inspect the changes in prevalence first using a diagnostic criteria set which was modified slightly from the DSM-5 criteria (Modified-1 criteria) and again using a set of criteria which was relaxed even a bit more (Modified-2 criteria). Modified-1 resulted in 33.77 % fewer toddlers being diagnosed with ASD compared to the DSM-IV, while Modified-2 resulted in only a 17.98 % decrease in ASD diagnoses. Children diagnosed with the DSM-5 criteria exhibited the greatest levels of autism symptomatology, but the Mod-1, Mod-2, and DSM-IV groups still demonstrated significant impairments. Implications of these findings are discussed.

Brief report: an exploratory study comparing diagnostic outcomes for autism spectrum disorders under DSM-IV-TR with the proposed DSM-5 revision.

DSM-IV vs DSM-5 diagnostic criteria for toddlers with autism.

CONCLUSION:
The proposed DSM-5 will result in far fewer persons being diagnosed with ASD. These results replicate findings from two previous studies, with older children/adolescents and adults. As a result of these new criteria, far fewer people will qualify for needed autism services.

Annual research review: re-thinking the classification of autism spectrum disorders.

Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder.

CONCLUSIONS:
Proposed DSM-5 criteria could substantially alter the composition of the autism spectrum. Revised criteria improve specificity but exclude a substantial portion of cognitively able individuals and those with ASDs other than autistic disorder. A more stringent diagnostic rubric holds significant public health ramifications regarding service eligibility and compatibility of historical and future research.

Proposed criteria for autism spectrum disorder in the DSM-5.

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By Matt Carey

Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow up of the 1980s Utah/UCLA Autism Epidemiologic Study

27 Sep

Long term studies are an under explored area in autism. Research interest in autism has grown a great deal and understanding of autism has grown. Thus we have few studies from the past to form the basis for long term studies and the populations may not represent current populations.

The Utah/UCLA study from the 1980’s does present one possibility for long term follow up. The study was performed when the DSM III was still in effect, for example of how the population selected then was different. A recent study showed that there were autistics missed then, even among the intellectually disabled.

With that in mind, there is still value in exploring long term outcomes in this group. In particular, the present study explores the increased mortality of autistics. In particular, mortality due to “iratory, cardiac, and epileptic events” were more common among autistics, who died nearly 10 times more often (by roughly age 30) than non autistics.

Here is the abstract

This study’s purpose was to investigate mortality among individuals with autism spectrum disorders (ASD) ascertained during a 1980s statewide autism prevalence study (n = 305) in relation to controls. Twenty-nine of these individuals (9.5 %) died by the time of follow up, representing a hazard rate ratio of 9.9 (95 % CI 5.7-17.2) in relation to population controls. Death certificates identified respiratory, cardiac, and epileptic events as the most common causes of death. The elevated mortality risk associated with ASD in the study cohort appeared related to the presence of comorbid medical conditions and intellectual disability rather than ASD itself suggesting the importance of coordinated medical care for this high risk sub-population of individuals with ASD

More long term, longitudinal and retrospective, work is needed to fill in some major knowledge gaps. Some is ongoing but we need to not only mine the data from the past but also law the groundwork for future long term studies.

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By Matt Carey

Adverse reaction data for alternative therapies for autism?

21 Sep

Edit–Note that ARI has changed their webpage language:

One factor of alternative medicine is that it is impossible to make an informed decision on risks and benefits. Without data on either, all one has is anecdotes. This is especially troublesome, to me at least, when it comes to risks. What are the adverse events associated with a given alternative medicine treatment? This became clear when an industrial chelator was offered as a “supplement” and the proprietor of that business was quoted as telling his clients to report adverse reactions to him, avoiding the FDA.

The Autism Research Institute (ARI) has promoted alternative therapies for autism for some time, even maintaining a list of therapies with survey results claiming high effectiveness. They also maintain a page on adverse reactions. But without any emphasis on informing people about adverse reactions to alternative therapies.

Here is a quote from that page:

Unfortunately, before the drugs are prescribed to their children, parents are not usually informed of the possible dangers related to the drugs. ARI urges all practitioners to inform their clients about the possible adverse effects associated with every treatment or medication that they recommend to their clients.

Many individuals on the spectrum suffer from seizures, and most of the drugs commonly prescribed to these individuals may lower the threshold for having seizures. We have also listed those drugs that are associated with seizures along with a link.

If your son/daughter experiences side effects from receiving prescribed medications, please contact the FDA at: http://www.fda.gov/medwatch or call 1.800.FDA.1088 (1.800.332.1088).

In addition, parents can learn more about possible side effects, as well as benefits, associated with various treatments by reviewing the results from our parent treatment survey. The survey findings are based on over 26,000 responses, and include a large number of biomedical interventions, including drugs, nutritional supplements, and diet.

One is given the information about how to report a reaction from “prescribed medications”, but not for alternative therapies or supplements. Or so they present it. The page they link to isn’t the direct reporting site. Instead, one must follow a link on that page to https://www.accessdata.fda.gov/scripts/medwatch/medwatch-online.htm. There you are informed that you may “Click the BEGIN button to report serious adverse events for human medical products, including potential and actual product use errors and product quality problems associated with the use of:”

FDA-regulated drugs,
biologics (including human cells, tissues, and cellular and tissue-based products)
medical devices (including in vitro diagnostics)
special nutritional products and cosmetics

emphasis added.

So, the same site where ARI sends people to report “side effects from receiving prescribed medications” can be used (and should be used) to report side effects from alternative therapies which are not prescribed. But parents are not encouraged to make such reports. Which, again, limits the public’s ability to estimate the risks involved with these therapies.

On the ARI page are links to adverse reactions (both ARI’s own discussions as well as links to external sites which publish accepted adverse reaction information) for various therapies. Will you learn about the “occasionally severe” skin reactions that occur with the chelator DMSA? No. Deaths from IV chelation? No. Will you hear about the autistic child who was a test case for the Autism Omnibus Proceeding who appeared to have significant adverse reactions to chelation? No. No one in the public would have heard about that were it not for the Omnibus.

ARI makes a major distinction between “Drugs” and “Biomedical/Non-Drug/Supplements” as therapies. Is this a valid distinction? ARI lists “Transfer Factor” as one of their “BIOMEDICAL/NON-DRUG/SUPPLEMENTS”, claiming that autistics “got better” 5.9 times more often than they “got worse”. But no data on what adverse reactions there are. No links. “Transfer Factor” is not a drug to ARI. It is worth noting that it was a drug to Andrew Wakefield. He attempted to patent Transfer Factor as a therapy and as an alternative to the standard measles vaccine.

The question of whether alternative therapies are presented such that one can make an informed decision is an important one. Raising the question is generally guaranteed to garner the reaction: “he’s anti-cure”, or “he’s against treating autism” or the like. But clearly the argument here is simple: are people being given the ability to make an informed decision about alternative medical treatments used for autism? The answer is simple as well: no. They are not.

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By Matt Carey

NIH awards $100 million for Autism Centers of Excellence Program

7 Sep

The U.S. National Institutes of Health (NIH) Have awarded $100 million over five years to the next Autism Centers of Excellence (ACE). The press release discussing the groups and their focus is below:

NIH awards $100 million for Autism Centers of Excellence Program
Nine grantees receive research funding over next five years

The National Institutes of Health has announced grant awards of $100 million over five years for the Autism Centers of Excellence (ACE) research program, which will feature projects investigating sex differences in autism spectrum disorders, or ASD, and investigating ASD and limited speech.

The disorders are complex developmental disorders that affect how a person behaves, interacts with others, communicates and learns. According to the Centers for Disease Control and Prevention, ASD affects approximately 1 in 88 children in the United States.

NIH created the ACE Program in 2007 to launch an intense and coordinated research program into the causes of ASD and to find new treatments.

“The ACE program allows NIH institutes to leverage their resources to support the large collaborative efforts needed to advance the broad research goals of the Interagency Coordinating Committee Strategic Plan for ASD research,” said Alice Kau, Ph.D., of the Intellectual and Developmental Disabilities Branch at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), one of five institutes funding the ACE program. “This year, the program has expanded to such areas as children and adults who have limited, or no speech, possible links between ASD and other genetic syndromes, potential treatments and the possible reasons why ASD are more common among boys than girls.”

In addition to the NICHD, the NIH institutes that support the ACE program are the National Institute on Deafness and Other Communication Disorders, the National Institute of Environmental Health Sciences, the National Institute of Mental Health and the National Institute of Neurological Disorders and Stroke.

The nine awards for 2012 will support research at individual centers or at research networks, which involve multiple institutions, dedicated to the study of ASD.

Grants were awarded to research teams led by the following investigators:

2012 Center Grants

Susan Bookheimer, Ph.D. (University of California, Los Angeles)—This research group will use brain imaging technology to chart brain development among individuals having genes suspected of contributing to ASD. The researchers hope to link genetic variants to distinct patterns of brain development, structure and function in ASDs. Researchers in this center also are investigating treatments that will improve social behavior and attention in infants and acquisition of language in older children with ASD.

Ami Klin, Ph.D. (Emory University, Atlanta)—The Emory team will investigate risk and resilience in ASD, such as identifying factors associated with positive outcomes or social disability, starting in 1-month-old infants and will begin treatment in 12 month olds in randomized clinical trials. Through parallel studies in model systems, the researchers will chart brain development of neural networks involved in social interaction. This center will increase understanding of how ASD unfolds across early development.

Helen Tager–Flusberg, Ph.D. (Boston University)—Many individuals with ASD fail to acquire spoken language, and little is known about why this is so. This research team will use brain imaging technologies in an effort to understand why these individuals do not learn to speak, with the goal of helping them to overcome this limitation. The research team will also test new approaches to help young children with ASD acquire language.

2012 Network Grants

Connie Kasari, Ph.D. (University of California, Los Angeles)—This network will compare two types of intensive, daily instruction for children with ASD who use only minimal verbal communication. Earlier research has shown that even after early language-skills training, about one-third of school aged children with ASD remain minimally verbal. Researchers plan to enroll 200 children in four cities: Los Angeles, Nashville New York City, and Rochester, N.Y.

Kevin Pelphrey, Ph.D. (Yale University, New Haven, Conn.)—A team of researchers from Yale, UCLA, Harvard, and the University of Washington will investigate the poorly understood nature of ASD in females. The project will study a larger sample of girls with autism than has been studied previously, and will focus on genes, brain function, and behavior throughout childhood and adolescence. The objectives are to identify causes of ASD and develop new treatments. According to the U.S. Centers for Disease Control and Prevention, ASD are almost 5 times more common among boys (1 in 54) than among girls (1 in 252).

Joseph Piven, M.D. (University of North Carolina at Chapel Hill)—This research group previously used brain imaging to show atypical brain development at age 6 months in infants who were later diagnosed with ASD. The group now plans to follow another group of infants at risk for ASD. In this study, they will do more frequent scans throughout infancy and until age 2, to gain a greater understanding of early brain development in children with ASD.

Abraham Reichenberg, Ph.D. (Mount Sinai School of Medicine, New York City)—Researchers in this network will embark on an ambitious attempt to understand how genetic and environmental factors influence the development of autism. The researchers will analyze detailed records and biospecimens from 4.5 million births involving 20,000 cases of ASD, from 7 countries (the United States, Australia, Denmark, Finland, Israel, Norway, and Sweden.) The analysis will span three generations and involve grandparents, parents, aunts, uncles, and siblings and cousins.

Mustafa Sahin, M.D., Ph.D. (Harvard Medical School, Boston) and Darcy Krueger, M.D., Ph.D. (Cincinnati Children’s Hospital and University of Cincinnati)—This network will recruit patients with tuberous sclerosis complex, a rare genetic disease that causes tumors in the brain and other vital organs. Patients with tuberous sclerosis complex have an increased risk for developing autism. The researchers will track brain development in infants diagnosed with tuberous sclerosis complex, to gain insights into how autism develops.

Linmarie Sikich, M.D. (University of North Carolina at Chapel Hill)—The researchers will test whether treatment with oxytocin nasal spray can improve social interaction and communication in children with ASD. Oxytocin is a neuropeptide (used by brain cells to communicate) and has been associated with social behaviors. The researchers plan to enroll 300 children with ASD between 3 and 17 years old from Boston, Chapel Hill and Durham, N.C.; Nashville, New York City, and Seattle.

Additional information about ASD is available at http://health.nih.gov/topic/Autism.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; intellectual and developmental disabilities; and medical rehabilitation. For more information, visit the Institute’s website at http://www.nichd.nih.gov/.

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 www.nih.gov.

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By Matt Carey

Note: this was originally published without a title

Autism spectrum disorders in Hispanics and non-Hispanics

5 Sep

Most autism research has focused on America and Europe. Not all, but most. Within the U.S. there remain populations who are under identified and under served. Racial and ethnic minorities are examples of such populations.

Within California, where the CHARGE Study is ongoing, Hispanics are qunder represented in administrative counts (e.g. Special Education).

This is an area that has struck me as a topic that needs attention. That needs change. Which is why I was both pleased to see and unsurprised by a press release last week from U.C. Davis’ MIND Institute:

DIAGNOSIS OFTEN MISSED FOR HISPANIC CHILDREN WITH DEVELOPMENTAL DELAY, AUTISM Broader outreach on developmental milestones needed

Yes, many Hispanic children do go undiagnosed, even today. And, yes, we as a people should be doing more to remedy that.

Robin Hansen of MIND is quoted as saying:

“That so many children are slipping through the cracks is disheartening,” Hansen said. “The differences between developmental disabilities can be subtle but important and involve distinct treatment pathways. We need to make sure that all children are getting routine developmental screening, early diagnosis and intervention so they can achieve their fullest potential.”

Interestingly the primary focus of the abstract for the study is not the underdiagnosis aspect but the result that for bilingual families, the autistic children score lower on the Mullen Scales of Early Learning.

Robin Hansen again:

“Our results emphasize the importance of considering cultural and other family factors such as multiple language exposure that can affect development when interpreting clinical tests, even when they are conducted in the child’s preferred language,” said Robin Hansen, chief of developmental-behavioral pediatrics at UC Davis, director of clinical programs with the MIND Institute and a study co-author.

The abstract:

Autism spectrum disorders in Hispanics and non-Hispanics

Objectives To compare differences in autism between Hispanic and non-Hispanics. We also examined the relationship between multiple language exposure and language function and scores of children.

Methods The Childhood Autism Risks from Genetics and the Environment (CHARGE) study is an ongoing population-based case-control study with children sampled (n=1061) from three strata: those with autism (AU) or autism spectrum disorder (ASD); developmental delay (DD); or the general population (GP).

Results Non-Hispanic cases demonstrated higher cognitive composite scores for the Mullen Scales of Early Learning (MSEL). There were significant associations between multiple language exposure and MSEL subscales for receptive language and expressive language, in both cases (AU/ASD) and TD controls, but not DD controls. Results of multivariate regression analyses suggest several predictors to be associated with lower Mullen expressive language scores including: diagnosis of ASD/AU, speaking to the child in a second language 25-50% of the time and Hispanic ethnicity; while maternal college education was associated with higher scores.

Conclusion Overall, the CHARGE Hispanic group displayed more similarities than differences compared to non-Hispanics in terms of autistic phenotypes and maladaptive & adaptive scores for cases. The relationship between multiple language use and cognitive scores warrants a closer look.

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By Matt Carey

Children with neurologic disorders at high risk of death from flu

29 Aug

Sometimes I get taken to task for spending too much time discussing vaccines. The thimersal and MMR hypotheses failed. Why keep discussing vaccines on what is primarily an autism focus site?

Well, for one thing, public health does involve us all. Just in general.
But there really is another level. Many autistics are more medically fragile than the average.

People die from influenza. Even in the relatively clean United States with its modern health care. People die. Amongst those are a disproportionate number of children with neurological disorders.

Below is a CDC press release on deaths from flu. Here for emphasis:

Of the 336 children (defined as people younger than 18 years) with information available on underlying medical conditions who were reported to have died from 2009 H1N1 flu-associated causes, 227 had one or more underlying health conditions. One hundred forty-six children (64 percent) had a neurologic disorder such as cerebral palsy, intellectual disability, or epilepsy. Of the children with neurologic disorders for whom information on vaccination status was available, only 21 (23 percent) had received the seasonal influenza vaccine and 2 (3 percent) were fully vaccinated for 2009 H1N1.

People and groups that spread misinformation about vaccines put everyone at risk and people with neurological conditions even more so.

They put my kid at risk. As is often discussed, some people don’t get immunity from vaccines. The only way I’ll know if my kid isn’t protected will be when an outbreak occurs.

I love the nurses in our local pediatric ward. But they dont want to see us again and I don’t want to see them again unless it is at a local Starbucks (in which case I pick up their tab. )

Children with neurologic disorders at high risk of death from flu
Health care and advocacy groups join to protect children most vulnerable to influenza

A disproportionately high number of children with neurologic disorders died from influenza-related complications during the 2009 H1N1 pandemic, according to a study by scientists with the Centers for Disease Control and Prevention. The report in the journal Pediatrics underscores the importance of influenza vaccination to protect children with neurologic disorders. CDC is joining with the American Academy of Pediatrics, Families Fighting Flu and Family Voices to spread the message about the importance of influenza vaccination and treatment in these children.

The Pediatrics study looked at influenza-related deaths in children during the 2009 H1N1 pandemic based on data submitted to CDC from state and local health departments. The number of pediatric deaths associated with 2009 H1N1 virus infection reported to CDC during the pandemic was more than five times the median number of pediatric deaths that were reported in the five flu seasons prior to the pandemic. Sixty-eight percent of those deaths occurred in children with underlying medical conditions that increase the risk of serious flu complications.

Of the 336 children (defined as people younger than 18 years) with information available on underlying medical conditions who were reported to have died from 2009 H1N1 flu-associated causes, 227 had one or more underlying health conditions. One hundred forty-six children (64 percent) had a neurologic disorder such as cerebral palsy, intellectual disability, or epilepsy. Of the children with neurologic disorders for whom information on vaccination status was available, only 21 (23 percent) had received the seasonal influenza vaccine and 2 (3 percent) were fully vaccinated for 2009 H1N1.

“We’ve known for some time that certain neurologic conditions can put children at high risk for serious complications from influenza,” said Dr. Lyn Finelli, chief of the surveillance and outbreak response team in CDC’s Influenza Division. “However, the high percentage of pediatric deaths associated with neurologic disorders that occurred during the 2009 H1N1 pandemic was a somber reminder of the harm that flu can cause to children with neurologic and neurodevelopmental disorders.”

“Flu is particularly dangerous for people who may have trouble with muscle function, lung function or difficulty coughing, swallowing or clearing fluids from their airways,” said study coauthor and pediatrician Dr. Georgina Peacock. “These problems are sometimes experienced by children with neurologic disorders,” said Peacock, of CDC’s National Center on Birth Defects and Developmental Disabilities.

The most commonly reported complications for children with neurologic disorders in this study were influenza-associated pneumonia and acute respiratory distress syndrome (ARDS). Seventy-five percent of children with a neurologic condition who died from 2009 H1N1 influenza-related infection also had an additional high risk condition that increased their risk for influenza complications, such as a pulmonary disorder, metabolic disorder, heart disease or a chromosomal abnormality.

CDC is partnering with the American Academy of Pediatrics and influenza advocacy groups to help promote awareness about the importance of influenza prevention and treatment in these high risk children. Since the H1N1 pandemic, children with neurologic conditions continue to represent a disproportionate number of influenza-associated pediatric deaths. CDC, the American Academy of Pediatrics (AAP), Family Voices, and Families Fighting Flu recognize the need to communicate with care takers about the potential for severe outcomes in these children if they are infected with flu.

“Partnering with the American Academy of Pediatrics, influenza advocacy groups and family led-organizations CAN help prevent influenza in children at highest risk,” said CDC Director Dr. Thomas R. Frieden.

The partnering organizations are working to coordinate communication activities with their constituents, which include parents and caregivers, primary care clinicians, developmental pediatricians and neurologists in hopes to increase awareness about flu prevention and treatment in children with neurologic disorders.

“The American Academy of Pediatrics, Families Fighting Flu and Family Voices were all natural partners when we thought about how to reach as many key people as possible with this message,” Dr. Peacock adds. “The collaboration and energy around this effort has been fabulous.”

“Our network of physicians is committed to influenza prevention in all children, and especially in reducing complications in those children at higher risk for experiencing severe outcomes as a result of influenza-like illness,” says Robert W. Block, M.D., president of the AAP. “This coalition can more broadly engage the entire community of child caregivers to express how serious flu can be for these children. These efforts emphasize why the medical home is so important for children and youth with special health care needs.”

Family Voices is a national family-led organization supporting families and their children with special health care needs. Ruth Walden, a parent of a child with special needs and president of the Family Voices Board of Directors, says, “It’s frightening to think that flu can potentially lead to so many complications or even death. We’re pleased to see organizations working together to educate families and providers about the importance of prevention.”

Families Fighting Flu, an advocacy group dedicated to preventing influenza, has a long history of reaching out to families who’ve lost loved ones to flu. “Throughout the years we’ve seen firsthand how flu can affect these kids and their families’ lives. We understand that prevention is absolutely critical,” explains Laura Scott, executive director of Families Fighting Flu. “Working with other groups only expands our mission of keeping kids safe throughout the flu season.”

CDC recommends that everyone aged 6 months and older get an annual influenza vaccination, including people who are at high risk of developing serious complications. Flu vaccine is the best prevention method available. Antiviral drugs, which can treat flu illness, are a second line of defense against flu.

To learn more about influenza, visit http://www.cdc.gov/flu.

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By Matt Carey

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