This year’s Day of Learning included two presentations on the use of technology among people with autism. As it turns out, technology can be great. In fact, a new study using Google Glass shows promise in improving socialization. On the other hand, sometimes technology can have a downside. People with autism spend more time than typical peers on their iPads, iPhones and other devices. What could be wrong with that? Well, problematic internet use is linked to autistic traits and suicidality. This link is NOT a clear line and obviously causes of suicide are multifactorial. However, new data demonstrate that obsessive internet use is not making things better for people with ASD. Listen to the podcast here.
Podcast: The good and evil sides of technology use by autistics
This week is focused on what happens in schools, including classification, service receipt and new interventions. How an educational classification translates to a clinical diagnosis, how and what factors are important in receiving services, what teachers think about repetitive behaviors and finally, a new intervention that can be delivered by therapists in school or mental health settings. They all have real-life consequences for kids who are receiving services in school. Listen to the podcast here.
Don’t be fooled, not all the studies on this week’s podcast focus on the DSM5. But the first one, a review of a meta analysis and review of the dozens of publications that have emerged in the past 5 years around the DSM5 leads us off. There are some people that weren’t captured by either DSM5 or Social Communication Disorder that need a diagnosis, and that should be the focus of future research. A new topic of diagnosis is also explored by a large collaboration is addressed: diagnosis in cousins. They do show a higher probability of an autism diagnosis, but not as high as first degree siblings. Finally, a new tool called JAKE in monitoring treatment effectiveness is presented. This could be used not just in the clinic but at home. It includes monitoring of biological and behavioral features, and might be the next big thing in outcomes for treatment studies. Listen to the podcast here.
Once again, this week another study came out dismissing the link between vaccines and autism. Add this one to the list, but this is one of the largest and takes into account genetic and non-genetic risk factors. It continues to discredit the vaccine-autism link. However, in other science, more evidence that prenatal folic acid supplementation, something women should be doing anyway, does reduce the probability of having a second child with autism. So take your folic acid – either by prescription or over the counter. As Martha Stewart says, it’s a good thing to do. Listen to the podcast here.
Females with autism are different than males with autism in a lot of ways. This week, researchers used twins to examine the differences between males and females with autism in their brain structure and how it’s associated with autism traits, not a diagnosis. To do this, researchers in Sweden turned to twins. As it turns out, females have more of a diversity of differences in brain changes compared to boys, supporting the female protective effect. But how to females with autism feel? As them! A group in the UK interviewed over 20 women on the spectrum or their parents to find out what concerns them most and what they find most challenging. Listen to the podcast here.
Happy President’s Day! This week’s podcast is focuses on a topic that has been on the mind of families affected by autism: autism and violence and victimization. The studies reinforce 1) the lack of an association between autism and criminality, 2) the association of an autism diagnosis with being the victim of abuse. This includes self report data, database analyses and assessment of people who cannot report their abuse. This sobering podcast was posted today because gun violence is an issue at the forefront of this president’s administration. While this podcast is not focused on gun violence, hopefully this data will reduce the misconceptions and stereotypes around autism and violence. Listen to the podcast here.
There is demonstrated genetic overlap between many neurodevelopment disorders including ASD, ADHD, and schizophrenia, and now there is data showing similarities in the structure and size of the brains in people with autism and those with ADHD. These differences depend on how severe social difficulties are, but the similarities are seen with ASD and ADHD, but not OCD. In addition, this week there are new depressing results from the Interactive Autism Network on unemployment and females with ASD. The results may not surprise you, but they will upset you. Listen to the podcast here.
Everyone knows the way to study infants with autism is through thorough testing of younger siblings of those with a diagnosis, who have a 15x greater chance of have a diagnosis themselves. Through these methods, new ways of identifying and predicting autism later on have been developed. On this week’s podcast: two very influential and recent papers on the study of motor issues in 6 month olds who go on to be diagnosed with autism, and those who don’t have an autism diagnosis but have signs and symptoms of ASD. Are motor issues related to an ASD diagnosis or ASD symptoms? And what about core symptoms of autism like language? Can early motor behaviors be used to predict who goes on to receive an autism diagnosis or has language problems? What should parents do? How should this influence an early intervention plan? Listen to the podcast here.
Twins with autism, where either one or both is diagnosed, is crucial to understand the role of genetics and the environment to both autism diagnoses and now, autism traits. In a study this week, researchers using data from the California Twins Study examined the genetic and environmental influences of brain development in multiple regions and measures. While estimates of genetic and environmental influences can only be modeled in twins, they can be experimentally tested in animal models. Researchers at the University of Washington investigate what causes the link between air pollution in humans and autism by studying diesel fuel exhaust in pregnant mice. Finally, across all of these disparate animal studies – does anything pull them together. Are these models all one-offs or do they have anything in common? It turns out disruption in normal brain activity is one thing that they have in common, and something that is at the common core of ASD neurobiology. Listen to the podcast here.
Even though many parents of kids with autism and autistic adults are using cannabis (THC and CBD) and cannabidiols (CBD only), these treatments are technically illegal. So how are pediatricians discussing these options with their patients when asked? A few pediatricians from states where it is legal for adults to obtain cannabis containing products weigh in on what they say, how they communicate, and what is ethical to explain in what circumstance. Also, new findings from an imperfect, but medically supervised, study on stem cell therapies in autism. Findings are interesting but should be judged with caution. Listen to the podcast here.
PROBLEM/CONDITION: Autism spectrum disorder (ASD).
PERIOD COVERED: 2014.
DESCRIPTION OF SYSTEM: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system that provides estimates of the prevalence of autism spectrum disorder (ASD) among children aged 8 years whose parents or guardians reside within 11 ADDM sites in the United States (Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Tennessee, and Wisconsin). ADDM surveillance is conducted in two phases. The first phase involves review and abstraction of comprehensive evaluations that were completed by professional service providers in the community. Staff completing record review and abstraction receive extensive training and supervision and are evaluated according to strict reliability standards to certify effective initial training, identify ongoing training needs, and ensure adherence to the prescribed methodology. Record review and abstraction occurs in a variety of data sources ranging from general pediatric health clinics to specialized programs serving children with developmental disabilities. In addition, most of the ADDM sites also review records for children who have received special education services in public schools. In the second phase of the study, all abstracted information is reviewed systematically by experienced clinicians to determine ASD case status. A child is considered to meet the surveillance case definition for ASD if he or she displays behaviors, as described on one or more comprehensive evaluations completed by community-based professional providers, consistent with the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) diagnostic criteria for autistic disorder; pervasive developmental disorder-not otherwise specified (PDD-NOS, including atypical autism); or Asperger disorder. This report provides updated ASD prevalence estimates for children aged 8 years during the 2014 surveillance year, on the basis of DSM-IV-TR criteria, and describes characteristics of the population of children with ASD. In 2013, the American Psychiatric Association published the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), which made considerable changes to ASD diagnostic criteria. The change in ASD diagnostic criteria might influence ADDM ASD prevalence estimates; therefore, most (85%) of the records used to determine prevalence estimates based on DSM-IV-TR criteria underwent additional review under a newly operationalized surveillance case definition for ASD consistent with the DSM-5 diagnostic criteria. Children meeting this new surveillance case definition could qualify on the basis of one or both of the following criteria, as documented in abstracted comprehensive evaluations: 1) behaviors consistent with the DSM-5 diagnostic features; and/or 2) an ASD diagnosis, whether based on DSM-IV-TR or DSM-5 diagnostic criteria. Stratified comparisons of the number of children meeting either of these two case definitions also are reported.
RESULTS: For 2014, the overall prevalence of ASD among the 11 ADDM sites was 16.8 per 1,000 (one in 59) children aged 8 years. Overall ASD prevalence estimates varied among sites, from 13.1-29.3 per 1,000 children aged 8 years. ASD prevalence estimates also varied by sex and race/ethnicity. Males were four times more likely than females to be identified with ASD. Prevalence estimates were higher for non-Hispanic white (henceforth, white) children compared with non-Hispanic black (henceforth, black) children, and both groups were more likely to be identified with ASD compared with Hispanic children. Among the nine sites with sufficient data on intellectual ability, 31% of children with ASD were classified in the range of intellectual disability (intelligence quotient [IQ] <70), 25% were in the borderline range (IQ 71-85), and 44% had IQ scores in the average to above average range (i.e., IQ >85). The distribution of intellectual ability varied by sex and race/ethnicity. Although mention of developmental concerns by age 36 months was documented for 85% of children with ASD, only 42% had a comprehensive evaluation on record by age 36 months. The median age of earliest known ASD diagnosis was 52 months and did not differ significantly by sex or race/ethnicity. For the targeted comparison of DSM-IV-TR and DSM-5 results, the number and characteristics of children meeting the newly operationalized DSM-5 case definition for ASD were similar to those meeting the DSM-IV-TR case definition, with DSM-IV-TR case counts exceeding DSM-5 counts by less than 5% and approximately 86% overlap between the two case definitions (kappa = 0.85).
INTERPRETATION: Findings from the ADDM Network, on the basis of 2014 data reported from 11 sites, provide updated population-based estimates of the prevalence of ASD among children aged 8 years in multiple communities in the United States. The overall ASD prevalence estimate of 16.8 per 1,000 children aged 8 years in 2014 is higher than previously reported estimates from the ADDM Network. Because the ADDM sites do not provide a representative sample of the entire United States, the combined prevalence estimates presented in this report cannot be generalized to all children aged 8 years in the United States. Consistent with reports from previous ADDM surveillance years, findings from 2014 were marked by variation in ASD prevalence when stratified by geographic area, sex, and level of intellectual ability. Differences in prevalence estimates between black and white children have diminished in most sites, but remained notable for Hispanic children. For 2014, results from application of the DSM-IV-TR and DSM-5 case definitions were similar, overall and when stratified by sex, race/ethnicity, DSM-IV-TR diagnostic subtype, or level of intellectual ability.
PUBLIC HEALTH ACTION: Beginning with surveillance year 2016, the DSM-5 case definition will serve as the basis for ADDM estimates of ASD prevalence in future surveillance reports. Although the DSM-IV-TR case definition will eventually be phased out, it will be applied in a limited geographic area to offer additional data for comparison. Future analyses will examine trends in the continued use of DSM-IV-TR diagnoses, such as autistic disorder, PDD-NOS, and Asperger disorder in health and education records, documentation of symptoms consistent with DSM-5 terminology, and how these trends might influence estimates of ASD prevalence over time. The latest findings from the ADDM Network provide evidence that the prevalence of ASD is higher than previously reported estimates and continues to vary among certain racial/ethnic groups and communities. With prevalence of ASD ranging from 13.1 to 29.3 per 1,000 children aged 8 years in different communities throughout the United States, the need for behavioral, educational, residential, and occupational services remains high, as does the need for increased research on both genetic and nongenetic risk factors for ASD.
The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that Autism BrainNet is accepting applications for recently acquired brain tissue from individuals with autism spectrum disorder (ASD) and related neurodevelopmental disorders, as well as neurotypical individuals.
To date, the Autism BrainNet collection has received 146 brain donations. This includes 55 brains from individuals with a confirmed or suspected diagnosis of ASD, 17 brains from individuals with conditions related to ASD, such as epilepsy or other neurodevelopmental disorders, and 74 brains from individuals with no known psychiatric or neurological conditions.
Autism BrainNet was established in 2014 with the goal of collecting postmortem brain tissue to promote research on the causes and potential treatments of ASD and other related neurodevelopmental disorders. An initiative of Foundation Associates LLC, which was formed by the Simons Foundation and Autism Speaks, Autism BrainNet is now entirely funded by SFARI. As part of its prior legacy with Autism Speaks, Autism BrainNet also manages tissue that had been previously collected by Autism Speaks’ Autism Tissue Program (ATP). While ATP tissue has already been released to the research community, Autism BrainNet tissue will now be distributed for the first time.
“Autism BrainNet is very grateful to all the families who decided to make a donation. We deeply appreciate their gift to science at such a difficult time of their lives. We are committed to building a strong partnership between families and researchers to advance the knowledge of autism together,” says David Amaral, director of Autism BrainNet and professor at the University of California, Davis.
Tissue currently available for researchers
Frozen tissue is available from 41 ASD cases with a confirmed diagnosis, including 30 donations from Autism BrainNet and 11 brains collected by ATP, with limited previous distribution. Frozen tissue from 62 control brains and 11 cases with autism-related neurodevelopmental disorders is also available.
Fixed tissue is available from 49 ASD cases with a confirmed diagnosis, including 38 donations made to Autism BrainNet and 11 brains collected by ATP. Fixed tissue from 74 control brains and 17 other neurodevelopmental disorders is also available.
All cases from individuals with ASD are confirmed via postmortem Autism Diagnostic Interview-Revised (ADI-R) or through record review before they are released to the research community. The ages for the ASD cases range from 2 to 91 years, with the largest number of cases in the 11–40-year-old range. More information about the available tissue, tissue characteristics (e.g., age of individual, postmortem interval (PMI), RNA Integrity Number (RIN), donor diagnostic data) can be found in the Autism BrainNet tissue catalogue. Additional phenotypic information is available to approved tissue recipients.
Whole-genome sequencing is being carried out on most of the ASD cases. Autism BrainNet plans to make these data available to approved investigators.
The tissue catalogue will be updated as new diagnoses are confirmed and donations are received.
Who can apply?
Researchers from all over the world who are interested in studying ASD and related neurodevelopmental disorders are eligible to apply. All applicants must hold a Ph.D., M.D. or equivalent degree and have a faculty position or the equivalent at a college, university, medical school or other research facility.
How to apply
All applicants must submit a short research proposal and demonstrate that they have adequate funding to carry out the proposed project using Autism BrainNet tissue. The form to submit a Tissue Request proposal can be found here.
Prior to finalizing their tissue request, and in order to streamline the request review process, researchers are strongly advised to contact requests@autismbrainnet.org to confirm that the parameters of their request are appropriate.
All tissue applications will be peer reviewed by the Autism BrainNet Scientific Review Committee. Autism BrainNet leadership will work with investigators to determine necessary types and amounts of tissue to complete the proposed projects. Approved requests will be fulfilled by Autism BrainNet staff. The Scientific Review Committee meets a minimum of four times per year. The time between approval of an application and receipt of tissue is estimated to be at least six weeks and will depend on the brain regions, as well as the number of samples requested.
“Autism BrainNet will make every effort to provide tissue to the greatest number of qualified researchers from the limited cases available,” says Marta Benedetti, SFARI senior scientist and president of Foundation Associates LLC, which supports Autism BrainNet. “We are committed to communicating the need for brain donations to accelerate research on the underlying causes of autism and to developing effective strategies to distribute tissue of the highest quality. We anticipate that projects will use the tissue to explore questions at all levels of investigation, from genetics through molecular to anatomical.”
More information about the tissue-request process and review can be found here.