Monday, December 31, 2012

Notable papers of 2012

Picking the top ten papers in a field is always challenging, but the outpouring of high-quality autism research in 2012 made that task especially difficult. Below is a selection of just some of these papers, selected by SFARI staff and presented in chronological order. SFARI director Gerald Fischbach expounds on the list in this column. 1. Brain response to gaze predicts autism in baby sibs A longitudinal study of infant siblings of children with autism is the first to identify a particular brain pattern that is linked to later diagnosis of autism. Elsabbagh M. et al. Curr. Biol. 22, 338-342 (2012) PubMed 2. Bone marrow transplant curbs symptoms of autism and Rett syndrome Two papers found that a bone marrow transplant can alleviate autism-like symptoms in mice, one in a rodent model of Rett syndrome and the other in an immune model of autism. Derecki N.C. et al. Nature 484, 105-109 (2012) PubMed Hsiao E.Y. et al. Proc. Natl. Acad. Sci. USA 109, 12776-12781 (2012) PubMed 3. Hundreds of genes involved in autism, sequencing studies say A quartet of exome-sequencing studies published this year have identified new risk genes and point to FMRP, the protein implicated in fragile X syndrome, as a central hub. O’Roak B.J. et al. Nature 485, 246-250 (2012)PubMed Sanders S.J. et al. Nature 485, 237-241 (2012) PubMed Neale B.M. et al. Nature 485, 242-245 (2012) PubMed Iossifov I. et al. Neuron 74, 285-299 (2012) PubMed 4. Chromosome exchanges reveal new autism-related genes Large-scale swapping of genetic material between chromosomes may play an important role in autism, according to a study published 27 April in Cell. Talkowski M.E. et al. Cell 149, 525-537 (2012) PubMed 5. Tuberous sclerosis gene loss triggers autism-like features Losing one or both copies of TSC1, one of the two genes responsible for tuberous sclerosis complex, in specific cells of the cerebellum can trigger several autism-like behaviors in mice, according to research published 1 July in Nature. Tsai P.T. et al. Nature. 488, 647-651 (2012) PubMed 6. Autism risk gene found to alter brain wiring MET, a leading candidate gene for autism risk, influences the strength of connections between brain regions involved in social behaviors, and this effect is especially prominent in people with the disorder. The findings are from a large study using several imaging techniques, published 6 September in Neuron. Rudie J.D. et al. Neuron 75, 904-915 (2012) PubMed 7. Drug improves social deficits in fragile X syndrome A drug called arbaclofen improves behavioral problems in people with fragile X syndrome, an inherited condition that can lead to mental retardation and autism, according to the results of a clinical trial published 19 September in Science Translational Medicine. A second study published in the same issue showed that the drug restores normal brain function in a mouse model of the syndrome. Berry-Kravis E.M. et al. Sci. Transl. Med. 4, 152ra127 (2012) PubMed Henderson C. et al. Sci. Transl. Med. 4, 152ra128 (2012) PubMed 8. 'Noisy' brain signals could underlie autism, study says Sensory responses in the brain of an individual with autism vary much more than in someone without the disorder, according to a study published 20 September in Neuron. This may explain why some people with autism are extremely sensitive to lights and sounds. Dinstein I. et al. Neuron 75, 981-991 (2012) Abstract 9. Common variants, en masse, may add up to strong autism risk Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism. Klei L. et al. Mol. Autism 3, 9 (2012) PubMed 10. Behavioral treatment for autism may normalize brain activity Early intensive therapy may normalize the brain’s response to faces in young children with autism, according to a study published in the November issue of the Journal of the American Academy of Child and Adolescent Psychiatry. The results are part of a randomized, controlled trial of a treatment called the Early Start Denver Model. Dawson G. et al. J. Am. Acad. Child Adolesc. Psychiatry 51, 1150-1159 (2012) PubMed

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Friday, December 28, 2012

Top Ten Autism Research Advances of 2012

In 2012, autism dominated headlines as never before. Public awareness skyrocketed with new updates on autism’s estimated prevalence (1 in 88) and costs to society ($137 billion per year nationally). Controversy roiled around proposed changes to how autism spectrum disorder (ASD) will be diagnosed in the years ahead. Behind the headlines – or at least off the front page – the field of autism research experienced a significant growth in the number of publications and scientists entering the field. In recent years, the field has drawn hundreds of talented scientists from other areas of science. In 2012, we saw many of these teams publishing important findings that confirmed and built on the pioneering discoveries of previous years.

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Friday, December 21, 2012

My Name is David

A short video of a young man explaining autism.

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Autism Cures Promised by DNA Testers Belied by Regulators

April Hauge, a nurse practitioner in Weimar, California, spent $500 on a genetic test for her autistic son in 2009 that led to purchasing thousands of dollars in vitamins and supplements. Impressed with the results, she’s now selling advice on the approach to others. There’s just one problem: the DNA tests and related treatments have scant backing from science and U.S. government officials. They’re untested, unproven, and may constitute “health fraud,” doctors, regulators and concerned parents said. “A lot of this skims on the edge of health fraud,” said Janet Woodcock, director of the Center for Drug Evaluation and Research at the U.S. Food and Drug Administration, referring to the use of DNA testing to recommend alternative therapies. Source: FDA via Bloomberg Alberto Gutierrez, director of the office of in vitro diagnostics and radiological health at the FDA, said the agency is “very concerned” about complex genetic tests being sold by laboratories, often over the Internet, whose claims are difficult to evaluate. Source: FDA via Bloomberg After reviewing the nutrigenomic test reports for the two autistic children, Daniel Coury, medical director for the Autism Speaks Autism Treatment Network, said there was no scientific evidence that the recommendations would combat autism. Source: Autism Speaks Autism Treatment Network via Bloomberg For alternative-medicine providers in general, the genetic tests are nothing but a “marketing tool” to sell unproven treatments, said James Laidler, a retired physician and adjunct professor at Portland State University whose 19-year-old autistic son has tried alternative therapies.

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Wednesday, December 19, 2012

Autism diagnoses in Israel jump almost fivefold since 2004

The number of Israelis diagnosed with autism has jumped fivefold ov the last eight years, according to the Social Affairs Ministry’s 2011 survey of social services. The figures show that between 2004 and 2011, there was a sharp and continual increase in the diagnosis of autism, which shot up from 1,507 in 2004 to 7,344 in 2011. The incidence of autism per 10,000 people rose by a factor of 4.3 – from 2.2 to 9.5.... The full text is available for subscribers & registered users. Click here to subscribe ($1 for the first 4 weeks)register (free access for 10 stories a month) or login

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Tuesday, December 18, 2012

The Top 10 Reasons Children With Autism Deserve ABA

This essay attempts to make the case for intervention based in ABA largely by moving beyond simply stating that the science supports this intervention. Adopting the format made famous by David Letterman of the “Top Ten List,” and illustrating most points with stories of an engaging child with autism (my son, Ben) this essay tries to provide an easily accessible case for the multiple benefits of ABA intervention for children with autism.1 Go to: Reason 10 Children with autism deserve ABA because there is more scientific evidence demonstrating ABA “works” than there is for any other intervention or treatment Reason 7 Children with autism deserve ABA because it will help teach them how to sleep through the night and use the bathroom Reason 2 Children with autism deserve ABA because some day their parents are going to die

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Autism Internet Modules

This series of online learning modules includes information on assessment and identification of ASDs, recognizing and understanding behaviors and characteristics, transition to adulthood, employment, and numerous evidence-based practices and interventions. More information can be found HERE, creating an account is required. Current Modules (40) Antecedent-Based Interventions (ABI) ASD-4-EI: What Early Interventionists Should Know Assessment for Identification Autism and the Biopsychosocial Model: Body, Mind, and Community Computer-Aided Instruction Customized Employment Differential Reinforcement Discrete Trial Training Extinction Functional Communication Training Home Base Language and Communication Naturalistic Intervention Overview of Social Skills Functioning and Programming Parent-Implemented Intervention Peer-Mediated Instruction and Intervention (PMII) Picture Exchange Communication System (PECS) Pivotal Response Training (PRT) Preparing Individuals for Employment Prompting Reinforcement Response Interruption/Redirection Restricted Patterns of Behavior, Interests, and Activities Rules and Routines Screening Across the Lifespan for Autism Spectrum Disorders Self-Management Sensory Differences Social Narratives Social Skills Groups Social Supports for Transition-Aged Individuals Speech Generating Devices (SGD) Structured Teaching Structured Work Systems and Activity Organization Supporting Successful Completion of Homework Task Analysis The Employee with Autism The Incredible 5-Point Scale Time Delay Transitioning Between Activities Visual Supports

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Rise in New Jersey Autism Prevalence Documented in New Study

Newly published research led by Walter Zahorodny, PhD, of the University of Medicine and Dentistry of New Jersey (UMDNJ), shows that over a four year period in the past decade, the documented prevalence of autism spectrum disorder (ASD) rose substantially in a sampling of four New Jersey counties. The new study uses 2006 data compiled in 58 communities across Essex, Hudson, Ocean and Union Counties, and shows a prevalence during that year of 17.4 children per one thousand. That compares to a prevalence in 2002 of 10.6 per thousand in those same communities, which had been found in an earlier study. Share This: Health & Medicine Children's Health Today's Healthcare Health Policy Mind & Brain Autism Educational Psychology Child Psychology Reference Gluten-free, casein-free diet Autistic spectrum Epidemiology List of medical topics The new research, which mirrored the methods of the previous study in order to make as accurate a comparison as possible of the two years, has been published online in the journal Autism. The study finds that ASD prevalence rose over the four year period both for boys (from 17.0 to 28.7 per thousand) and for girls (from 4.1 to 5.9 per thousand). ASD prevalence also varied by ethnicity, with white non-Hispanic children showing the highest levels of ASD, 20.4 per thousand in 2006 compared with 15.0 per thousand for black, non-Hispanic; 14.7 per thousand for Hispanic; and 14.0 per thousand among Asian children.

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Saturday, December 15, 2012

Evidence and Artifacts: Facing Autism

Evidence and Artifacts: Facing Autism is a long-term photographic project documenting the growing number of individuals, families and invested teachers, therapists, advocates, doctors and researchers on the front lines fighting the debilitating characteristics of autism spectrum disorders. Facing Autism is both a call to action, and a way to honor those who are rising to the challenge autism presents everyday.
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Comparison of Healthcare Experiences in Autistic and Non-AutisticAdults: A Cross-Sectional Online Survey Facilitated by anAcademic-Community Partnership

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Autism Insurance Services through the Montana Child Development Center

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Wednesday, December 12, 2012

Diuretic drug improves symptoms of autism ?

A drug normally used to increase the rate at which people urinate improves some of the symptoms of autism in children, according to a small clinical trial published today in Translational Psychiatry1. ---- In children taking bumetanide who were less severely affected by autism, the researchers saw small but significant improvements in behaviour. The drug also seemed to be safe and well tolerated with few side effects, they say. ---- She adds, however, that the effects of the drug were small, and that one-third of the placebo group also showed some amelioration of symptoms. “The effects were only noticeable on some gross behavioural measures, [but the findings are] consistent with my view that there is a lot of spontaneous fluctuation in symptoms and a general tendency to improve over time,” she adds. -----

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Access4Kids is a "wireless input device that translates physicalmovements into fine-motor gestures to control a tablet.

How do you enable someone to masterfully control a touch-centric device, when the mere act of touching is a challenge? Ayanna Howard, professor of electrical and computer engineering at Georgia Tech, and graduate student Hae Won Park have created Access4Kids, which is described as a "wireless input device that uses a sensor system to translate physical movements into fine-motor gestures to control a tablet."

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Tuesday, December 11, 2012

FAQs on the 2009 Montana Autism Insurance Reform Law

1. What does the Montana law (Senate Bill 234) do? Broadly speaking, the requires many private insurers to begin covering the costs of diagnostic assessments for autism and of treatments for individuals with autism1. $50,000 per year for a child 8 years or younger2. $20,000 per year for a child 9 years through 18 The specific terms and provisions of this law are described in more detail in this FAQ document. 2. When did the law go into effect? Most sections of the Autism Insurance Act went into effect on January 1, 2010, including the provisions that require many insurers to cover services for autism spectrum disorder. 3. Is my employer-provided health insurance required to cover my child’s autism services? It applies to state, city, town, school district or other political subdivision of this state, university group insurance programs, and any self-funded multiple employer welfare arrangement that offers group health insurance coverage are required to offer autism services for children under the age of 18. It is not applicable to those employers that are regulated by the Employee Retirement Income Security Act (ERISA), otherwise known as self-insured employers. 4. Are there limits on what our private insurance is required to cover?

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Monday, December 10, 2012

Dream Map to a Mind Seized

I used to fantasize about becoming a wildly successful author or influential teacher; now I fantasize about having a map of my son's body and brain, showing me the areas of hurt and how I can help. Gone are the phantom shelves of books I would have liked to write, the modestly tucked-away folder of imaginary teaching awards. When I first knew that my son, now 3, was on the autism spectrum, I had hoped for the possibility of a high-functioning form, but that was before I learned he also has a rare form of epilepsy and a host of immunological problems. Now I just want him to be functioning—that is, alive and able to eat and walk and perhaps even improve over time. Parents of children on the autism spectrum often talk about a number of comorbid conditions that can accompany the disorder—immunological dysfunctions, frequent ear infections, intractable strep, gastrointestinal disorders, rampant yeast, inexplicable regressions, allergies. I did not guess that my son would have all of those as well as epilepsy (there is an 11- to 39-percent overlap between the two conditions), or that our concerns over his seizure disorder would begin to trump our fears about everything else. I also did not realize that he was to have more than one regression, which would rob him of all of his hard-won language and communication skills, forcing him to retreat into a wordless and inaccessible world where I could not follow.

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Sunday, December 9, 2012

The Magic of The Microphone

Senior Seth Bode is pacing back and forth in the main office of Grace King High School in Metairie. In front of him is a microphone. Shortly, he will be reading the school's morning announcements and he is nervous as he rehearses his lines. Bode reads cards that his teacher Bridget Seals holds out for him. "Good morning, my name is Seth," he says. To an outsider, it is such a simple phrase. But for Seals and Bode, it is momentous. Seth Bode is autistic, and has trouble socializing and speaking to others. Even in the moments leading up to his recitation of the announcements, Bode seems removed and in his own world, not responding to others who address him. But Seals has learned of, as she calls it, the "magic of the microphone" and has found that her students often open up in surprising ways.

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Stress-Free Holiday Tips and Toy Recommendations for Families ofChildren with Autism

Many families will soon experience an increased level of holiday-related anxiety stemming from more than just the usual demands of shopping, cooking, and decorating. The holidays can be stressful for any family, but particularly so for families living with autism. There are unfamiliar social situations, changes in routine and unstructured time off from school, all of which can be stressful and over-stimulating for a child on the autism spectrum. However, there are practical strategies parents can use to lessen children’s anxiety and increase everyone’s enjoyment of the holidays.

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