By Esther Jou

One of the more radical changes to the autism classification within the DSM-5 was the elimination of the category “Asperger’s Disorder” and inclusion of those who would have met that criteria under the name “autism spectrum disorder”.  Some families of individuals with Asperger’s and those diagnosed with Asperger’s opposed this change for fear that being a member of the ‘autism’ group would force them to live with a more stigmatized label and subjugate them to further social and academic pressures.  In order to address whether this was the case, researchers designed studies to understand the public perception of the word “autism” vs.  “Asperger’s”.  Coincidentally, two studies were published this week which examined the impact of clinical labels on stigma and treatment attitudes. Does an autism spectrum disorder label conjure a more unpleasant disposition when compared to an Asperger’s Disorder label? These studies also asked whether there was a difference in peer responses to overt ASD behaviors if a clinical label was disclosed.

The first report, authored by Ohan et al., examined the responses of 465 adults who were presented with a vignette of a 9 year old who displayed symptoms characteristic of someone who would have received a diagnosis of Asperger’s Disorder. Participants were then asked to rate levels of discomfort, compassion, and irritation towards the child based on a definition of stigma that included: negative beliefs (stereotypes), emotions (prejudice), and behaviours (discrimination). Statistical analyses showed stigma ratings were not dependent on the clinical label – Asperger’s or ASD.  Post hoc tests also revealed participants were less likely to seek out medical treatment for the vignette child if they were unaware of any label due to the assumption that treatment would be ineffective for an undiagnosed condition.

Another study conducted in the UK, authored by Brosnan and Mills, analyzed the responses of 120 college students to two male vignettes, both exhibiting behavior characteristic of an individual with Asperger’s Disorder. Participants were informed that one of them had a clinical disorder (AS, ASD, or schizophrenia) while in the control scenario, they were told that the individual was a typical university student above average intelligence. More positive responses were found towards the clinical disorder vignette and like the first study, the type of clinical label used did not influence the student’s response.

Due to stigma surrounding mental disorders, the name of the clinical diagnosis itself can be powerful enough to deter an individual from seeking or completing treatment. Yet these studies indicate a changing attitude towards mental health, one that encourages people to be more open about an ASD diagnosis. However, it is also important to note that both studies set out to collect data from societies that were more willing to accept, even celebrate, differences and thus dedicate research and education to raising awareness about mental health problems. What happens if we take a look at the responses of cultures who have not accepted the term  “autism” let alone the concept of mental health? How can we build on those existing foundations to foster inclusion for the autism community?

Esther Jou Summer Community Relations intern and University of Pennsylvania student reflects on the issue of stigma surrounding an autism diagnosis

Esther Jou
Summer Community Relations intern and University of Pennsylvania student reflects on the issue of stigma surrounding an autism diagnosis


  1. Ohan JL, Ellefson S, Corrigan PW. Brief Report: The Impact of Changing from DSM-IV ‘Asperger’s’ to DSM-5 ‘Autistic Spectrum Disorder’ Diagnostic Labels on Stigma and Treatment Attitudes. Journal of autism and developmental disorders. June 5 2015; doi: 10.1007/s10803-015-2485-7
  2. Brosnan M, Mills E. The effect of diagnostic labels on the affective responses of college students towards peers with ‘Asperger’s Syndrome’ and ‘Autism Spectrum Disorder’. Autism. June 8, 2015; doi: 10.1177/1362361315586721
Toxicity and regrowth of serotonergic neurons after a single dose of MDMA in monkeys

Toxicity and regrowth of serotonergic neurons after a single dose of MDMA in monkeys

The autism community is constantly bombarded with potential treatments, cures, and other claims for products that have no scientific evidence. Even worse, some of these products are known to be harmful and there have been reports of deaths after such treatments, like chelation. Unfortunately, another one of these non-evidence-based, potentially-harmful compounds, has made its way into the mainstream media, potentially confusing families and individuals with autism about the promise or potential of such treatments.

In March, investigators at the Los Angeles Biomedical Research Institute in California published the rationale and methodology for a new study investigating the effectiveness of MDMA or 3,4-methylenedioxymethamphetamine for the treatment of social anxiety in adults with autism.1 This drug has shown some promise for the treatment of post-traumatic-stress disorder. This recent publication, which presented no data, went mostly unnoticed or ignored in the scientific community until the mainstream media picked up on the idea and it has since ended up in the newsfeed. MDMA is the main ingredient in the drug commonly known as Ecstacy or Molly, which was added to the DEA Controlled Schedule list in 1985. The authors claim it is safer because in the pure form because it does not include any additives or fillers that may be included in the street form of the drug. However, this theory has a problem.

One important point that the authors of this publication completely failed to mention is the potent neurotoxicity of MDMA.  This scientific fact is in stark contrast to the image the authors portray of it being a benign substance which opens the mind and promotes closeness. It is a form of amphetamine which has been proven to cause long lasting loss of neurons for serotonin in the cortex of animals exposed to MDMA2. As these animals age, some of the neurons start to grow back, but with shorter or absent dendritic spines3.   In humans, MDMA exposure produces a similar pattern of neurotoxicity and leads to cognitive problems, sleep issues, and psychiatric issues.4-6   MDMA also induces an increase in body temperature, and has shown to be toxic on cardiac and liver tissues.7,8 According to scientific evidence a less-pure form of Ecstacy may actually be safer than the pure unaltered compound. Therefore, the claim that the version given in this study is ‘safer’ is misleading.

There is no known safe dose in humans. In fact, in non-human primates, one dose was sufficient to produce long lasting deficits in serotonergic functioning.9 Serotonin is associated with mood, emotion, and cognitive ability, so it is not really a surprise that MDMA use causes deficits in these areas of behavior. Evidence using post-mortem brain tissue shows that people with autism have neurons that are already disorganized, misplaced, and irregularly shaped10.  Therefore, giving this compound to individuals with ASD may be especially dangerous.

For those who were intrigued by this news story, concentrate on safe, non-toxic, evidence-based interventions. While the study received IRB approval, this is a dangerous compound that should be avoided. To see a comprehensive list of evidence and non-evidence based treatments, please go to our website. The autism community deserves better than to have money wasted on a study using a drug that is known to be toxic and in some cases, lethal.

  1. Danforth AL, Struble CM, Yazar-Klosinski B, Grob CS. MDMA-assisted therapy: A new treatment model for social anxiety in autistic adults. Progress in neuro-psychopharmacology & biological psychiatry. Mar 25 2015.
  2. Sarkar S, Schmued L. Neurotoxicity of ecstasy (MDMA): an overview. Current pharmaceutical biotechnology. Aug 2010;11(5):460-469.
  3. Williams MT, Skelton MR, Longacre ID, et al. Neuronal reorganization in adult rats neonatally exposed to (+/-)-3,4-methylenedioxymethamphetamine. Toxicology reports. 2014;1:699-706.
  4. Parrott AC. Human psychobiology of MDMA or ‘Ecstasy’: an overview of 25 years of empirical research. Human psychopharmacology. Jul 2013;28(4):289-307.
  5. Benningfield MM, Cowan RL. Brain serotonin function in MDMA (ecstasy) users: evidence for persisting neurotoxicity. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. Jan 2013;38(1):253-255.
  6. Gerra G, Zaimovic A, Ferri M, et al. Long-lasting effects of (+/-)3,4-methylenedioxymethamphetamine (ecstasy) on serotonin system function in humans. Biological psychiatry. Jan 15 2000;47(2):127-136.
  7. Turillazzi E, Riezzo I, Neri M, Bello S, Fineschi V. MDMA toxicity and pathological consequences: a review about experimental data and autopsy findings. Current pharmaceutical biotechnology. Aug 2010;11(5):500-509.
  8. Baumann MH, Rothman RB. Neural and cardiac toxicities associated with 3,4-methylenedioxymethamphetamine (MDMA). International review of neurobiology. 2009;88:257-296.
  9. Mueller M, Yuan J, McCann UD, Hatzidimitriou G, Ricaurte GA. Single oral doses of (+/-) 3,4-methylenedioxymethamphetamine (‘Ecstasy’) produce lasting serotonergic deficits in non-human primates: relationship to plasma drug and metabolite concentrations. The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum. May 2013;16(4):791-801.
  10. Hutsler JJ, Zhang H. Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders. Brain research. Jan 14 2010;1309:83-94.

By Jason Wolff, PhD

The corpus callosum is by far the largest white matter connection in the brain. We now have a great deal of evidence suggesting that connectivity is disrupted in autism. So when we think about connectivity across brain regions, the corpus callosum is an obvious target. There is a steady trend in the literature — dating back nearly two decades — suggesting that autism is associated with a smaller corpus callosum. It’s an important and fairly consistent finding.

If over a dozen studies have found a smaller corpus callosum in adults and older children with autism, would we see the same in infants? This was our main question. Somewhat surprisingly, we found the reverse of what has been seen later in life — in infants who developed autism, the corpus callosum was significantly larger. This result was evident even when we controlled for total brain size, which is known to be elevated in autism early in life.


Corpus callosum enlargement was most evident at ages 6 and 12 months. The differences between babies with and without autism seems to go away by age 2, which we think is consistent with research showing a smaller corpus callosum in older children with autism relative to controls.

So our first set of results intrigued us. The corpus callosum was larger, and in particular thicker, in babies with autism. What could be causing this? Because the IBIS study collects multiple types of brain imaging, we were able to partially explore this question. We examined diffusion tensor imaging data, specifically a measure called radial diffusivity, to understand how white matter fiber structure might explain differences in corpus callosum size.


We found that radial diffusivity very strongly predicted corpus callosum size in babies. This suggests that axon density and composition may explain group differences. For example, it is possible, that babies with autism have excess thin axons due to less pruning or early overgrowth. We can’t say for sure with these data, but we are very excited to pursue these results and are in the process of doing so through our ongoing Infant Brain Imaging Study.

If you have a child with autism and are expecting another child, please contact www.ibis-network.org. You can participate no matter where you live in the US and you can get a free evaluation and meet with a well-trained clinician.

Jason Wolff, PhD

Jason Wolff, PhD

By Jessica Bradshaw

As an Autism Science Foundation predoctoral fellow, I had the privilege of pursuing the answers to fascinating questions about the development of autism spectrum disorder in the first year of life. My research on very early interventions to encourage the development of pivotal social-communicative behaviors led me to questions of outcome measurement. How are we measuring such a complex system of behavior in young infants? How do we know if the intervention is working? How do we even know whether to intervene in the first place? How can we modify already well-established ASD interventions to work for the youngest infants? The questions became endless.

In an effort to make more sense of these seemingly infinite questions, I gathered all the research studies that implemented very early intervention for infants with or at-risk for autism from birth to 24 months of age. Only nine studies had scientifically documented the impact of that intervention in this very young population. Only nine studies! In reviewing and analyzing these studies, we found some answers about how to identify and intervene in early infancy and, of course, came up with even more questions.


Jessica Bradshaw works with a client.

How do we know when to intervene?
Most researchers seemed to determine clinical concern for ASD based on both standardized measures (e.g., ADOS) and expert clinical judgment. Because toddlers typically begin using language between 12-24 months, delayed language is a primary risk factor for ASD around age two. At this age expert developmental clinicians were also able to notice atypical sensory and motor behaviors that may be associated with ASD. Infants under 12 months, however, proved to be tricky. Language is not expected at this age and repetitive behaviors and sensory interests are a part of typical infant development! Discerning symptoms of autism in these young infants have been notoriously difficult for researchers.

What are the treatments for infants and toddlers with or at-risk for ASD?
The use of behavioral strategies for improving social communication and decreasing challenging behaviors is the most established form of treatment for individuals with ASD thus far. As it turns out, intervention for infants is no different. Nearly all studies used a typical behavioral framework: provide an opportunity for the behavior (antecedent), wait for the infant to respond (behavior), and reward the child (consequence). Of course the studies did not report a standard “ABA” protocol in which the infant is sitting at a table while an adult presents them with different tasks. In my own studies using Pivotal Response Treatment (PRT), treatment sessions for children 0-5 years take place on the floor engaging in whatever activity motivates the child, like peek-a-boo or singing songs. In PRT, we find that motivating the child to interact and socially engage is pivotal in ASD intervention. It is easy to see how this type of naturalistic treatment strategy might be especially suited for infants.


Does it work?
Ah, the million dollar question. These 9 studies were encouraging, but as for autism outcome – we need more research. Infants and toddlers tended to improve on target goals, but there was a lot of variability, calling into question the exact ingredients of treatment that are leading to improvements. Importantly, infants who started intervention earlier were found to make greater gains, re-confirming other findings (and our suspicion) that earlier intervention is better. Toddlers who received more hours of intervention also benefited more from treatment. Parents of all studies reported high satisfaction and enjoyment with these interventions, despite heavy parent involvement. It can be difficult for parents to interact with their toddler at-risk for ASD who is less socially responsive, and spending what can amount to 30-40 hours a week delivering interventions at home is exhausting. Interventions addressed this issue by teaching parents how to play and interact such that their child will be more interactive and engaged – and parents actually had fun doing it! This finding is key. The more we make our interventions feasible and enjoyable for parents, while also reducing parent stress, the more parents will use the treatment techniques and the more the entire family will benefit.

Prevention and intervention techniques for the youngest infants are rapidly growing and findings are burgeoning. These interventions are moving beyond the classic “ABA” model and incorporating elements related to developmental theory, self-regulatory processes, family systems, and parent-infant synchrony.  Recently, a paper was published by leaders in the field who agree that sometimes the names of the interventions can be artificial, since most are based in the same evidence-based methods of behavioral learning and developmental sciences. Schreibman et al. (2015) termed these interventions “Naturalistic Developmental Behavioral Interventions” and urge researchers to continue refining the active ingredients of treatment and testing its long-term impact in order to develop interventions that are most efficient and effective for families.

By Alycia Halladay, PhD

Earlier this week a study came out which examined the risk of autism after in vitro fertilization, or IVF. Data was pulled from California datasets, and it was among the largest study of its kind. A previous study using a nationwide database in Sweden had only shown an increase in risk after only specific types of procedures. In contrast, this latest study showed doubling the risk of ASD, without specifying what type of procedure was involved.

The study is important because there have been concerns about the outcome of children conceived via IVF. Because rates of IVF have increased over the past 2 decades, one of the concerns from parents has been the association between IVF and autism. This study showed a nearly 2x increase in autism risk after IVF, and that most of this increase risk was due to IVF related multiple pregnancies.  When the analysis excluded multiple births, the increased risk was no longer seen. The risk also significantly decreased when only women under the age of 35 were included in the sample.

One of the authors of the paper, Dr. Peter Bearman, was very bold in his conclusions of the study. He said, “Knowing that one can largely reduce the risk of autism by restricting the procedure to single-egg transfer is important for women who can then make better informed decisions.” Autism Speaks said in their report, “In recent years, reproductive medicine societies have recommended a general reduction in the number of embryo transfers, and this has reduced rates of multiple births.” First, there is no such thing as a “single-egg” transfer, so Dr. Bearman must have been referring to single-embryo transfer. Second, reproductive medicine societies have efforts in place to reduce the number of multiple births, not the number of transfers per se.


For clarification, ASRM has specific guidelines on single embryo transfer, including only being appropriate for women under the age of 35. http://www.asrm.org/FACTSHEET_Elective_Single_Embryo_Transfer/. Second, the decision on how many embryos to implant are considered by both parents, not just women. Taken together, some of the comments around the study can make this issue confusing. Therefore, I thought it was important to get the perspective of a board certified physician on this issue, someone who is trained and trusted to counsel women who are undergoing this procedure.

Dr. Owen Davis, a board certified physician and president-elect of the American Society of Reproductive Medicine commented, “Multiple pregnancies are associated with many adverse pregnancy and birth outcomes, and the goal of physicians is to reduce the number of multiples while still ensuring the best chance for a successful pregnancy. The current guidelines set forth age and day of transfer as important variables. As age goes up, aneuploidy rates increase, and transfer of more than one embryo may be appropriate to ensure at least one goes on for a full term pregnancy.”

Therefore, the message to the autism community is: before you make any decisions about IVF based on autism risk, talk to your reproductive endocrinologist. Scientific studies should inform, not replace, those discussions.

By Emily L. Casanova, Ph.D. & Manuel F. Casanova, M.D.

Across many different fields of study, evidence is emerging that autism is a disorder caused by disturbances of early brain development. Over the last decade, autism research has strongly focused on synapse dysfunction, however a recent genetic analysis has revealed that while synapses are probably dysfunctional in autism, much earlier stages of brain development may be just as foundational to the condition.

In humans the production of new neurons continues up into the early part of the third trimester. By comparison, synapses, which are communicative junctions of neurons, are not established until the third trimester and continue to be remodeled throughout the lifespan. Current evidence stresses the importance of early brain development in autism risk, however it also raises an important question: Can both early and later brain development be affected in autism? Below is a schematic of the ways that neurons look during development, and then how they look when they are mature.

Screen Shot 2015-02-03 at 11.24.53 AM

Our laboratory has focused on the idea that many stages of brain development are affected in most cases of autism. In our most recent publication in Frontiers in Cellular Neuroscience, we report that most of the high-risk gene mutations associated with autism impair not only later synapse development but also earlier stages of neuron production and maturation. This tells us that autism is caused not only by dysfunctional synapses but by dysfunctional neural networks and neurons. This understanding is vital, not only so we can decipher how this heterogeneous condition develops, but also to be able to predict the different ways in which it might be treated or even prevented. In order to design successful treatments, we must know precisely what we’re dealing with.

Determining the ways in which the brain is affected in autism may also help us understand how different types of autism arise, and how these cases may be similar and/or different from typical forms of the condition. For instance, the childhood epilepsy known as Dravet Syndrome (DS) presents with normal or relatively normal cognitive development throughout the first year of life. Yet between ages 1-2 years these children develop seizures often in response to fever or illness. Following seizure onset, approximately 25% of these children also develop symptoms of autism, making DS a well-recognized form of syndromic autism. However, individuals with DS also exhibit brain malformations similar to those seen in typical and syndromic autism. Because these malformations occur very early in brain development, this indicates that DS, and perhaps other forms of regressive autism, have prenatal roots even though symptoms aren’t obvious until 1-2 years of age.

This work stresses the need for a paradigm shift in autism research and a broader understanding of how the brain develops. While it may be simpler to study a single structure or developmental stage, a tunnel-vision approach may not provide us with an accurate understanding of what has occurred to produce the condition we’re investigating. We hope that a broader developmental point of view is a step in the right direction, helping to bring together different branches of research so that their results complement each other rather than confuse the field. Autism, after all, is a puzzle. We need to be looking at all the pieces together.

A perspective by Lonnie Zwaigenbaum, MD


With recurrence risk estimated as high as 20%, there are many families with more than one child with autism spectrum disorder (ASD). Advances in genetic testing, including availability of clinical microarray testing, with sequencing based technologies on the horizon, could potentially answer families’ questions about what caused their child’s ASD, and what might be the risk to younger siblings. However, a new study published this week, one of the largest to date to use whole genome sequencing (WGS), reports intriguing findings that challenge assumptions about transmission of genetic risk of ASD, and emphasize the complexity even within individual families.

A Canadian research group, led by Dr. Stephen Scherer, Director of the Centre for Applied Genomics in Toronto reported WGS of 85 multiple incidence families (two parents and two siblings with ASD). They found that in 36/85 (42%) of families, at least one child with ASD had DNA alterations potentially relevant to the disorder. However, only in 12/36 (33%) of these families were the same de novo or rare inherited ASD-risk variants identified in both siblings. In the other 24 families, the siblings carried different pathogenic mutations or one sibling had an ASD-relevant variant, and the other did not have one detected. Interestingly, siblings that shared risk variants tended to be more alike in their phenotypic features than those who did not share a risk variant.

At face value, such results seem counter to our assumptions that recurrence risk in siblings reflects shared genetic mechanisms.  Even at a population rate of 1 in 68 children, the odds of two siblings having differing genetic mechanisms for ASD would seem very low. However, there could be other as yet undetected genetic (or epigenetic factors) that account for occurrence in multiple siblings, despite not sharing specific risk variants at other loci. Indeed, the findings emphasize the potential importance of mapping variants across the entire genome to understand how multiple variants, independently or in combination, may increase vulnerability to ASD. And non-shared environmental factors may also be at play.

It does seem that if parents have a child with ASD in whom a specific genetic variant has been identified, it may not be sufficient to test their younger child just for that variant in order to determine likelihood of recurrence. As progress is made in WGS of a larger number of families, we will hopefully learn more about how complete sequencing (potentially in combination with other biomarker testing) may ultimately inform risk counseling.



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