EBD Blog

Over on Autism Street, Dad Of Cameron (“Do’C”) has assembled a list of sources that have questioned the strength of the evidence about hyperbaric oxygen therapy for Autism. I’m flattered that he included the entry from EBD Blog.

Important studies of humans’ genes conducted by a team led by Hakon Hakonarson and Gerard Schellenberg have revealed that individuals with Autism are substantially more likely to have different genetic structures at specific areas on chromosomes than individuals who do not have Autism. Although previous studies of the human genome in Autism had yielded differences of substantial scientific interest, the differences often only accounted for a small percentage of the populations; instead of fewer than 1-3%, these differences may be present in ~15% of cases.

A research team has connected more of the intricate pieces of the autism puzzle, with two studies that identify genes with important contributions to the disorder. One study pinpoints a gene region that may account for as many as 15 percent of autism cases, while another study identifies missing or duplicated stretches of DNA along two crucial gene pathways. Significantly, both studies detected genes implicated in the development of brain circuitry in early childhood.

“Because other autism researchers have made intriguing suggestions that autism arises from abnormal connections among brain cells during early development, it is very compelling to find evidence that mutations in genes involved in brain interconnections increase a child’s risk of autism,” said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia.

Both studies link material on chromosome 5 with Autism. The research implicates genetic material near locations known as the cadherins (particularly cadherin 10 cadherin 9), neurexins, and ubiquitins. Genetic material in this area affects the creation and eliminate of molecules responsible for adhesion between cells. Neuronal cell-adhesion molecules are important because they affect communication from one nerve cell to neighboring nerve cells.

PDFs of the two studies, “Common genetic variants on 5p14.1
associate with autism spectrum disorders” and “Autism genome-wide copy number variation reveals ubiquitin and neuronal genes,” are available from Nature. Because I’m not a student of genetics, I’d welcome comments from people who actually know this research area and can explain the concepts and mechanisms.

Read the press release from the The Children’s Hospital of Philadelphia (PA; US); that’s the source of my quotation. Also see coverage by Tina Hesman Seay of Science News, Tina Tsouderos of the Tribune.com carried in the Los Angeles Times.

Over on her Ed Week blog, Christina Samuels posted an entry entitled, “Use of Seclusion, Restraints on Students at Issue: Watchdog agency preparing report on practices.” She reports not only about current efforts to keep awareness of the issue high, but also about the sometimes-tragic background on the issue.

In my view, paddling and spanking should also be on the list. These are not appropriate, let alone effective, methods.

Because students with Emotional and Behavioral Disorders are probably more likely to experience seclusion and restraint, it is important for the special education and mental health communities to help in sustaining awareness of the issue.

Read Ms. Samuels’ post.

The spring 2009 issue of Stanford Medicine Magazine, a publication of the Stanford University School of Medicine, examines the turmoil swirling around vaccines. In “Hot Shots: Vaccines under the gun” one can read any of ten articles (not counting an introductory comment by Rosalyn Carter):

• The demonization of immunization: Shots get the once-over
• What is a vaccine? Immunization demystified
• Asking How: Vaccine Side Effects Probed
• When science gets hijacked: NBC News chief medical editor tells why she broke her silence
• Insourced to India: A vaccine for a scourge of the developing world
• Peet’s passion: The medical education of Amanda Peet
• Field yields: Can genetically engineered plants provide vaccines?
• Shoot it, don’t smoke it: An injectable tobacco-grown vaccine
• Golden needles: Vaccines for seniors
• Grow up: Can vaccines built for kids work in older immune systems too?

Few of the folks who ardently oppose vaccines will likely be swayed by the content provided here. However, this magazine provides an excellent broad-brush treatment of the topic for those who are curious, savvy, and vulnerable to reason.

Link to the issue on the Web. Flash of the electrons to Liz Ditz for alerting me to this excellent resource.

Link to ICDR
Stakeholders Site

The Interagency Committee on Disability Research (ICDR) issued a reminder about its process for securing recommendations about priorities for about disability and rehabilitation research. Following its earlier call for recommendations, ICDR now solicits public voting about the agenda.

The ICDR Seeks Your Recommendations on Emerging Disability Research Topics

Web site provides opportunity to vote and prioritize disability issues of greatest concern

This year for the first time, the federally mandated Interagency Committee on Disability Research (ICDR) is utilizing an innovative Web-based approach to collect online disability research comments to assist in developing a federal disability and rehabilitation 2010 research agenda. This technology-driven approach gives the public a three-week timeframe from March 27th through April 17th to submit their recommendations. Additionally, registered participants will be invited to review all comments submitted and vote on their top 10 concerns in each topic area during the one-week period from April 22nd through April 29th. Public comments from stakeholders are the focal point of the disability research recommendations in the ICDR Annual Report to the President and Congress.

All disability-related research topics are welcomed, including discussion about concerns important to the veteran and military communities. The ICDR is seeking comments with special emphasis placed in the following areas:

Collaboration and coordination among federal agencies;

Health information technology and/or electronic health records;

Health disparities;

Health promotion in the workplace;

Employment and health; and

Other critical research issues.

Guidelines and Instructions:

Access the ICDR Public Comment Web site: http://www.icdr.us/stakeholders for complete instructions, guidelines, and registration.

If you do not have access to a computer or the Internet, you may mail your comments to ICDR c/o CESSI, 6858 Old Dominion Drive, Suite 250, McLean, VA 22101 or fax to 703-442-9015. Please follow the following instructions for written comments:

• No longer than 250 words or 1500 characters
• Single-spaced using 12-point font in Times New Roman

Key Dates:

Web-based Public Comments: March 27 – April 17, 2009 (3:00 P.M. EDT)

Written Comments: March 27 – April 17, 2009 (Must be postmarked no later than the deadline)

Online Public Voting: April 22 – 29, 2009 (11:59 P.M. EDT)

Cross-posted to-from LD Blog.

The US television broadcast company NBC ran a series of segments about Autism during the week ending 17 April 2009 on the program Today. Dr. Nancy Snyderman, a medical editor for NBC, introduces the segments. Sadly, some of the content trends toward the woo-woo—replete with fantastic explanations offered by well-intentioned but ill-informed adults—but there is one (the third in the following list) that stresses the benefits of systematic, behaviorally based instruction.

• Can robots help treat Austim?
• Making sense of children’s senses
• Can kids ‘recover’ from Autism?

There is also a “Web only” segment about a school in New York dedicated to serving students with Autism. According the executive director Julie Fisher, the school’s programming is based on applied behavior analysis.

Follow this link to review them on MSNBC Website. There are also links to older segments on Autism.

In “Teaching autistic kids to read facial expressions,” Amber Dance of the Los Angeles Times reports on multiple projects looking at (sorry ’bout that) helping individuals with Autism to recognize human expressions. Of course, she discusses the Transporters videos, but she also describes other efforts.

She mentions KASPAR (Kinesics and Synchronisation in Personal Assistant Robotics), a robot that, among other things, exhibits expressions. Professor Ben Robins of the engineering faculty at the University of Hertfordshire (UK) is involved in that research, examining “robots as therapeutic or educational ‘toys’ specifically for use by children with autism.” Researchers are using KASPAR “to study human-robot interaction as part of the European RobotCub Project, which aims to build an open-source robot platform for cognitive development research.”

Ms. Dance also mentions research about the effects of methylphenidate on facial regard and a Web-based program for teaching facial expressions. The latter work is being conducted at by Judith Piggot of the Center for Autism Research and Treatment (CART) at the University of California at Los Angeles.

Read Ms. Dance’s story. Learn more about CART. Learn more about Professor Robins, KASPAR, and the Aurora Project. The clinical trial of methylphenidate with children with Autism on which James T. Mccracken worked, was a part of the Research Units on Pediatric Psychopharmacology (RUPP) Autism Network, a National Institute of Mental Health funded multi-site consortium; read “Ritalin May Help Control Hyperactivity in Autistic Children” by Tom Harrison.

Patricia Howlin and colleagues (including Sir Michael Rutter) reported the results of a study of savant skills among individuals with Autism. They found that, although some individuals with Autism have savant skills, it might not be as common as the popular press says.

Of course, the rare cases really astound us. Treffert and Christensen (2005) recounted the case of Kim Peek, who “read Tom Clancy’s The Hunt for Red October in one hour and 25 minutes. Four months later, when asked, he gave the name of the Russian radio operator in the book, referring to the page describing the character and quoting several passages verbatim.”

I’m still working with my library to obtain a complete copy of the Howlin et al. paper. Here’s the abstract, though.

Most investigations of savant skills in autism are based on individual case reports. The present study investigated rates and types of savant skills in 137 individuals with autism (mean age 24 years). Intellectual ability ranged from severe intellectual impairment to superior functioning. Savant skills were judged from parental reports and specified as ‘an outstanding skill/knowledge clearly above participant’s general level of ability and above the population norm’. A comparable definition of exceptional cognitive skills was applied to Wechsler test scores—requiring a subtest score at least 1 standard deviation above general population norms and 2 standard deviations above the participant’s own mean subtest score. Thirty-nine participants (28.5%) met criteria for either a savant skill or an exceptional cognitive skill: 15 for an outstanding cognitive skill (most commonly block design); 16 for a savant skill based on parental report (mostly mathematical/calculating abilities); 8 met criteria for both a cognitive and parental rated savant skill. One-third of males showed some form of outstanding ability compared with 19 per cent of females. No individual with a non-verbal IQ below 50 met criteria for a savant skill and, contrary to some earlier hypotheses, there was no indication that individuals with higher rates of stereotyped behaviours/interests were more likely to demonstrate savant skills.

This is only one of many interesting articles in this issue of Transactions. There’s a list of the articles (and references for the works I’ve cited) after the fold.
Continue reading ‘Savant skills among Autistics’

Michael Fitzpatrick posted an edited version of a lecture entitled “It’s time to stop this ‘miracle cure’ madness” that he gave to Royal Society of Medicine in London (UK) on 23 March 2009.

For parents the priority must be to put the interests of the child first. Children with autism should not be subjected to testing and treatment that is not supported by good evidence of efficacy and safety – especially if it lacks any scientific rationale. Parents should be more critical of the claims made for biomedical interventions and more questioning of the qualifications, experience and expertise of those offering them. Parents’ organisations should be wary of promoting the commercial interests of alternative practitioners and their associated laboratories and corporate suppliers of diets, pills and potions.

Link for the posted version of the talk.

Flash of the electrons to Liz Ditz.