EBD Blog

In a letter to Nature, Lauren Weiss, Dan Arking, the Gene Discovery Project of Johns Hopkins, and the Autism Consortium report that they have analyzed multiple data sets and identified potential loci on human genes for susceptibility for Autism. They found possible linkages on four chromosomes (5p15, 6q27, and 20p13) and, coupled with other data, the single nucleotide polymorphism on 5p15 pointed to SEMA5A as an important location for additional study. These results may lead to a means of screening; if rare variations can be identified reliably, they would permit families to seek intervention very early in the lives of affected individuals, thus greatly increasing the chances of improved outcomes.

Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success1. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 10-7). We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants.

Link to the abstract.

Drawing on the data collected as a part of the US National Survey of Children’s Health, Michael Kogan and colleagues estimated that slightly greater than 1% of children have Autism. The survey asked parents whether a doctor or other health-care provider had said that a child had Autism and the child currently had the condition; the point-prevalence was 110 per 10,000 for Autism Spectrum Disorder. The survey, which is a part of the regular US Child and Adolescent Health Measurement Initiative (CAHMI), asked questions of 78,037 parents.
Continue reading ‘Autism prevalence > 1%?’

Although I have followed the promotion of secretin as a treatment for Autism pretty much since the first reports about it, I hadn’t checked on it lately. My initial foray into the topic in 1998 resulted in some skepticism with hedges. As the research evolved, it became clear that the skepticism was warranted.

However, I was surprised that Stephen Edelson, writing in a 2008 article entitled The secretin story: Still a promising treatment for autism,” considered “the studies investigating the efficacy of secretin have been very positive.” Coupled with some vaguely remembered notion that fewer than 50% of physicians discouraged use of secretin, the article gave me pause. I thought, “Hmmm. Maybe you’re earlier analysis was hasty, John.”
Continue reading ‘Secretin reminder’

The Substance Abuse and Mental Health Services Administration, which is a part of the US Department of Health and Human Services, maintains a Web site where users can search for and learn more about methods for preventing or treating some Emotional and Behavioral Disorders. It’s called the “National Registry of Evidence-based Programs and Practices” (NREPP) and, for those who are concerned about employing or recommending evidence-based practices, it’s worth reviewing.

The National Registry of Evidence-based Programs and Practices (NREPP) is a searchable online registry of mental health and substance abuse interventions that have been reviewed and rated by independent reviewers.

The purpose of this registry is to assist the public in identifying approaches to preventing and treating mental and/or substance use disorders that have been scientifically tested and that can be readily disseminated to the field. NREPP is one way that SAMHSA is working to improve access to information on tested interventions and thereby reduce the lag time between the creation of scientific knowledge and its practical application in the field.

NREPP is a voluntary, self-nominating system in which intervention developers elect to participate. There will always be some interventions that are not submitted to NREPP, and not all that are submitted are reviewed. In addition, new intervention summaries are continually being added. The registry is expected to grow to a large number of interventions over the coming months and years. Please check back regularly to access the latest updates.

Although NREPP originally focused on substance abuse, its coverage is broader now. Look for resources about, for examples, Across Ages; Aggressors, Victims, and Bystanders: Thinking and Acting To Prevent Violence; Al’s Pals: Kids Making Healthy Choices; All Stars; Caring School Community; CASASTART; Children’s Summer Treatment Program (STP); Coping Cat; Creating Lasting Family Connections (CLFC)/Creating Lasting Connections (CLC); Early Risers “Skills for Success”; Families and Schools Together (FAST); Guiding Good Choices; Incredible Years; Keep A Clear Mind (KACM); Keepin’ it REAL; Lions Quest Skills for Adolescence; Multisystemic Therapy (MST) for Juvenile Offenders; Multisystemic Therapy With Psychiatric Supports (MST-Psychiatric); Positive Action; Primary Project; Project Northland; Project Towards No Tobacco Use; Project Venture; Promoting Alternative THinking Strategies (PATHS), PATHS Preschool; Protecting You/Protecting Me; Right Decisions, Right Now: Be Tobacco Free; SAFEChildren; Second Step; SMARTteam; Storytelling for Empowerment; Strengthening Families Program; Strengthening Families Program: For Parents and Youth 10-14; Success in Stages: Build Respect, Stop Bullying; Too Good for Drugs; and Too Good for Violence;

Even though many schools in the US have closed for the summer or are about to do so, I want to remind folks that this is not a good time to take a break from considering the mental health needs of children and youth. Although they are likely to wax and wane over time, mental health problems don’t take many vacations.

Learn more about US resources for individual children and youths who have emotional and behavioral disorders by surfing the rich resources assembled by the Substance Abuse and Mental Health Services Administration (SAMSHA) of the US Department of Health and Human Services. Although some of the materials may be a tad out of date (e.g., prevalence figures have been updated for some disorders such as Autism), there are still plenty of valuable materials available from SAMHSA.

Go there! Compare what you see learn there with what’s available at other trustworthy sites. Learn what to do and from whom help is available.

Adolescents who are at risk for later episodes of major depressive disorders differ from their peers who are not at risk on multiple measures of rapid eye movement (REM) and hypothalamic-pituitary-adrenal (HPA) activity during sleep, according to a study by Uma Rao and colleagues that appeared this fall in Neuropsychopharmacology . Early depressive episodes that occur during adolescence are strongly associated with other later problems in other areas such as interpersonal relationships, pregnancy, educational attainment, employment, and suicidal behavior; finding predictors of later problems is important for primary and secondary prevention.

Rao and colleagues compared youths at risk for major depressive disorder with peers using electroencephalographic (EEG) and HPA measures. They then followed the youths for 5 years and correlated their EEG and HPA measures with the chances of later episodes of depression. Here’s the abstract:
Continue reading ‘Sleep predictors of later depression’

Sheldon Braaten announced that the call for papers for the regular conference sponsored by the Council for Children with Behavior Disorders has been extended. Here’s the text of his message.

8th Biennial International Conference on Children and Youth with Behavioral Disorders

“Strategies for Promoting Academic and Behavioral Competence of Students with Emotional/Behavioral Disorders”

At the
Four Points by Sheraton Denver Southeast
Denver, Colorado
September 23-26, 2009

Call for Proposals – Deadline has been Extended
Continue reading ‘CCBD call for papers extended’

In Scientific American, Daniel Lametti wrote an article providing background research on mirror neurons and implications for future research. The article, “Mirroring Behavior: How mirror neurons let us interact with others,” only has a few words about Autism and mirror neurons. However, readers of EBD Blog who are new to the topic and who want to understand the concepts in general will likely benefit from reading it.

Link to Mr. Lametti’s article.

Link to ICDR
Stakeholders Site

As noted here earlier, people have a chance to influence future priorities for research about disabilities. It’s an opportunity for families to affect policies and shouldn’t be missed. Here’s a reminder that the time for public voting on the importance of the priorities ends tomorrow (15 May 2009).

The federally mandated Interagency Committee on Disability Research (ICDR) utilized a Web-based approach to collect online disability research comments to assist in developing a federal disability and rehabilitation 2010 research agenda. The comments were submitted from March 27th until April 17th. Additionally, registered participants were invited to review all research related comments submitted and to vote on their top 10 concerns in each topic area from April 22nd through April 29th.

As we indicated previously, the voting was suspended on April 23 to modify the database application due to the overwhelming number of recommendations. If you voted previously, it will be necessary to recast your votes during the new one-week timeframe: May 8-15, 2009. We apologize for this inconvenience and encourage you to return to the site to vote for your research priorities. For more information, please visit www.icdr.us/stakeholders.

Similar content also appears on LD Blog. Please share the word.

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.

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.