New technologies contribute to greater use of standardized measures in different community settings. At the same time, clinicians and scientists have developed new ways to use common records and tools, resulting in better identification of concerns at even earlier stages. Families and care providers should confidently screen early and often.

Biological based markers hold promise for even earlier detection of features, especially in those with a family history. However, to make predictions about not just a diagnosis but future expectations of needs as well, most care providers, physicians and clinicians rely on behavioral concerns. Right now, most families lack access to EEG machines and MRIs and expensive genetic testing is most often not covered by insurance. The reality of early detection of ASD in 2019 is that it occurs mostly in primary care settings, where physicians help to interpret results for the family.  In 2019, the AAP published an update to their 2007 guidelines for screening for autism and it continues to recommend autism-specific screening at 18 and 24 months12.  Researchers continue to explore new ways to make this tool more accessible via technology, such as electronic tablets, whereas scientists continue to refine and improve accuracy screening tools using machine learning13

One challenge of current screening practices (and in fact, in all of ASD research) is the disparity in screening and screening results amongst distinct racial and ethnic groups14. In order to address these differences, scientists are analyzing a variety of approaches fashioned to deal with these disparities and to increase access to screening tools. This includes remotely employing video based tools to capture ASD features to help identify and diagnosis ASD15-17. These video based tools help parents identify signs by providing real life examples of parent-child interactions18and by examining existing reports of developmental milestones from electronic medical records19, with the goal of identifying early signs of developmental concerns as soon as possible, in as many infants as possible, regardless of race or ethnicity . Doing so will increase early diagnosis, leading to earlier intervention and increased understanding of ASD, self-awareness of symptoms and long-term improvement of services.

Multiple studies this year have linked children’s symptoms and biology in infancy to later outcomes. Motor abilities, family history, brain connectivity all can independently contribute to how a child develops over time. These outcomes include an autism diagnosis, verbal ability, and cognition in adulthood. This sort of research can be used to help prepare families and customize interventions that focus on the most debilitating symptoms of ASD.

This year, to make predictions about future ASD features, more studies used a longitudinal study design. This design is critical to autism research because it follows a group comprised of individuals diagnosed with ASD and, at times, individuals without a diagnosis in order to determine how they are affected as adolescents and adults. Whereas a longitudinal study can be expensive, complex and does not produce immediate results, the nature of its design provides clinicians invaluable data, affording deeper insights that allow them to more fully educate families by managing expectations, identifying focus areas and providing coping strategies that serve to help those with ASD live their best lives.

Longitudinal studies help parents understand their child’s reality and manage future expectations, as well as help scientists refine interventions according to the variability of groups of people with ASD.  Multiple research studies have used data to group children based on trajectory, i.e. the progression from commencement, through adolescent development to adult functioning.  The composition of these groups consists of those who show fewer symptoms and continue to improve vs. those less functioning who continue to decline. This year, two longitudinal studies, one conducted in the United States and one in Canada, closely examined toddlers to pinpoint and study specific factors that influence outcomes, from childhood to adulthood. In these studies, two patterns emerged: those possessing lower levels of symptoms who improve vs. those with more profound symptoms who decline. 

While all groups showed improvement in daily living skills, those who presented less severe symptoms in toddlerhood and showed marked progression during adolescence also had the highest adaptive abilities as adults2.   Although most participants showed improvement in social communication with age, improvement varied, based on individual language ability as toddlers. Social communication impairments in 19 year olds was found to correlate with differences in language ability as early as age two. As speech improved, so did this core symptom of ASD3: those with early minimal language ability showed the greatest functioning impairments as adults. Likewise, fine motor skills in infancy4is a predictor of language at age 19, in that better fine motor skills in early childhood is a predictor of better command of language in adulthood. Together, these findings demonstrate that poor early motor skills and decreased language function are related to later ASD symptoms. This is a crucial identification, considering that both fine motor skills and language are target areas of early intervention and that intervention may improve ASD through adulthood. 

The study of early motor function is not only vital to further understanding how it affects those diagnosed, it also offers insight pre-diagnosis in terms of how early motor function may predict a later ASD diagnosis. The Baby Siblings Research Consortium (BSRC) is a group of researchers that studies initial features of ASD in siblings of children with ASD as young as 6 weeks of age. Siblings of children with ASD have a 15x greater probability of having ASD themselves than do other children.  Similar to previously mentioned studies, BSRC also concludes that fine motor abilities at 6 months can predict an ASD diagnosis in siblings and expressive language ability in younger siblings at 3 years6,7

Another factor BSRC researchers have employed to estimate the probability of diagnosis in children is number of siblings previously diagnosed with ASD. Those with at least 2 older siblings with ASD were found to have a higher probability of a diagnosis, as well as increased severe cognitive disabilities8. Based on family history, this  information is vital in helping families better understand the probability of an ASD diagnosis in future children, as well as predicting strengths and limitations future children may face.

In addition to identifying behavioral markers, the past decade of research has revealed a blossoming of early biological factors that may serve as additional predictors of diagnosis, ranging from genetic tests9, salivary hormone markers and other reflections of altered development. Studies of brain structure, activity and connectivity have also proven valuable; when measured non-invasively, identified changes in activity in the frontal lobe of the brain during the first year of life have served to predict an ASD diagnosis in infant siblings10. Because brain wavelengths vary, identifying and monitoring changes in the size of each different type of wavelength over the course of a year serves as valuable information in terms of not just determining an ASD diagnosis but also for further understanding brain fluctuations during that time period10.

Complementary to brain activity, previous studies from the Infant Brain Imaging Network (IBIS) revealed different approaches to more accurately predicting ASD diagnosis by using measurements of brain structure and connectivity, in addition to mathematical algorithms based on the shape and function of different brain regions, as potential predictors of a later diagnosis. This year, the analysis of early brain based ASD markers has afforded scientists more precision in determining an association with brain connectivity in critical ASD brain regions, as well as an insistence on sameness and stereotyped behaviors at 12 – 24 months11. Not only do these biological based markers aide in predicting later diagnosis and identifying features of ASD within a diagnosis, they have the potential to serve as objective ways to help determine specific interventions, both medical and behavioral.

(for the full list of references, visit http://www.autismsciencefoundation.org)

Reprinted with permission from Matthew Belmonte, PhD.

Dr. Belmont is a Visiting Researcher at the Com DEALL Trust, Bangalore, 
India, and Reader in Psychology at Nottingham Trent University in the 
UK.  This article represents his personal views.

With the academic term finished I’m just catching up on all that I ought to have written about the annual meeting of the International Society for Autism Research 2-4 May in Montreal. For me the high point was Alison Singer‘s brilliantly delivered speech at the morning Special Interest Group on Clinical Strategies for Including Severely Affected Individuals in Neuroscience Studies: https://www.ncsautism.org/…/including-severe-autism-in-neur… . Alison and colleagues pointedly described the weariness that so many of us feel after opening yet another front in a conflict that we thought that we had put behind us.

The first front has been the fight for justice: All my life I have witnessed the battle against governments, local authorities, schools and other institutions for appropriate education and participation in society. In the 1970s, long before the Individuals with Disabilities Education Act 1990 and before even the Education for All Handicapped Children Act 1975, my mother set up a Montessori classroom in the basement because no school would take my elder brother. I remember the household litter of PECS cards and sign-language manuals. I remember my brother’s shoelace-tying practice board made from old trainers, the secret thrill of finding it and mastering it before he did. I remember my father’s absences at breakfast and supper during his long drives back and forth to board meetings and hearings at the state capital. I remember learning helplessness in the face of my father’s rage and my mother’s sobs, in the throes of a marriage overstressed by autism without respite. I remember finding out so belatedly that this family life actually was not what other children experienced and was not normal. And I have looked on from a distance as my sister with her daughter has fought and re-fought these same battles. I’ve witnessed my brother dashing in the opposite direction from the door of his locked institution, a year before we finally figured out that what he was trying to tell us, without speech, is that he was being beaten daily. I’ve witnessed my parents’ guilt at having sent him there.

The second front has been the fight for beneficence: I’ve witnessed and then myself fought the battle against scientists and physicians hamstrung by ideology and prejudice. I’ve heard, in her weaker moments, the self-criticism and despair of a mother who was lectured by a physician, a psychiatrist who had read Bettelheim, “Mrs Belmonte, don’t you feel *guilty*?” I’ve seen my brother and my parents contort their lives to follow research protocols that advance scientific careers more than scientific understanding. I’ve seen families’ reports of disrupted sleep, gastrointestinal distress, and immune disease ignored for decades because autism was a disorder of social cognition. I’ve seen families spend desperate money on bullshit therapies from auditory training to immunoglobulin infusion because science was ignoring them. I’ve seen families’ stories of heightened affective empathy dismissed because people with autism are impaired at (cognitive) empathy. I’ve seen case reports of independent keyboard communication dismissed because people with autism, whose cognitive, perceptual and motor dyscontrol mean that they can’t look and think and do at the same time, “aren’t even looking at the keyboard”, because proponents of typing methods don’t trust scientists, and because scientists haven’t consulted autistic people and their families and teachers and therapists about how to test. I’ve watched, every September when I was in graduate school, a queue of students enter the medical school office through one door and emerge through the other wielding a white coat, a stethoscope, and an attitude.

The third and perhaps least intractable front has been the fight for knowledge: For half my life I have been fighting the battle to understand the biomedical causes of autism in ways that lead to evidence-based, targeted treatments, and may in future lead to prevention or even cure. It’s been a long time coming, but with subtyping in terms of behaviour, neurophysiology and genetics, and informed by syndromic associations, the field at long last is zeroing in to be able to provide something more than the perennial ABA and PECS.

Never did I anticipate, though, that I would end up fighting a fourth battle, for respect for persons, against so-called ‘self-advocates’ and their fellow travellers, about the very definition and status of autism as the disease condition that it is. After the 1970s’ ignorant “Oh my child is very artistic too”, by the late twentieth century, thanks in no small part to the publicity efforts of parent-driven organisations such as Cure Autism Now (on whose Scientific Review Council I’m proud to have served) and the National Alliance for Autism Research (which, by funding my doctoral research, prevented me from dropping out of graduate school) people finally knew autism: People knew- or at least knew about- people who couldn’t speak, or who otherwise couldn’t connect thoughts and intentions to behaviours and actions flexibly and in the moment. People also knew a lot of their family members who, like me, were socially and motorically maladroit and fascinated with sensory, sensorimotor and cognitive patterns and relationships. Some of this latter group began receiving the label ‘Asperger syndrome’; more of us simply recognised in ourselves the broader phenotype described by Joe Piven and others. We all had some autistic traits. But none of us went around labelling ourselves ‘autistic’, any more than, say, a talented artist with schizoid traits would label herself ‘schizophrenic’. To do so, to appropriate that label, would have been patently absurd because our petty deficits were of a nature and degree that could be worked around. Yes, we didn’t get picked when the class was choosing kickball teams, we didn’t get party invitations, we didn’t get girlfriends and boyfriends, and time after time in the working world our social deficits and executive and affective dyscontrol lost us the very same jobs that our technical skills and intensity of focus had gained us. Life was lonely and often Sisypheanly hard- but you know what? Life is hard for a lot of people, indeed for everyone to some degree or other, because that’s life. And you don’t need to appropriate a label because life is hard. Instead you just need to get on with it, changing those aspects of the world that you can change but living with those that won’t budge.

During the past decade and a half or so, though, the logic of many newly and lately diagnosed Asperger or broader-phenotype individuals seems to have gone thus:
1. I am autistic. (false)
2. My condition is not a disease. (true)
3. Therefore autism is not a disease. (false)

This logic has been lately abetted by the DSM-5’s elimination of Asperger syndrome as a diagnostic term distinct from autism- as though when we see red we ought to think ‘violet’ because after all, light is a continuous spectrum! And it doesn’t help matters that this rhetoric is being driven by a population who tend to view distinctions in black and white rather than shades of colour. So we are back to a situation where people in general don’t know autism- except worse, because they *think* that they do know it. They have listened to those mildly affected and often very talented individuals who have appropriated the label. They have listened to the artists and authors and engineers who have clothed themselves in autism chic. These people are listened to because they can speak. I remember the moment when I first saw this public misperception taking hold. I was a postdoctoral scientist at Cambridge giving a public engagement talk. To augment the science with a personal connection I spoke a bit about my brother. I mentioned that he’d never spoken. A woman in the audience looked puzzled. “What,” she spluttered, “you mean, he has nothing to say?” Seriously. She actually didn’t get it. That’s the moment when I knew where we were headed, and that was sixteen years ago. And this change of climate has reached such a fever pitch that now, in last month’s Autistica Discover conference at the University of Reading, mainstream scientists apparently felt compelled to adopt this celebratory rhetoric of autism. That conference culminated in a panel none of whose members were authors and bloggers with autism such as Jonathan Mitchell who advocate treating autism as the problem that it is.

I want to share two letters of mine. One is ten years old, a reply to _Newsweek’s_ story about Ari Ne’eman and the ‘self-advocacy’ movement which was not selected for publication. The other is a few weeks old, a plea to a prominent scientist (whose name I’ve removed because his reply was a thoughtful one and I don’t want him tarred and feathered by the Internet) who spoke at the Autistica Discover meeting.


Date: Sun, 24 May 2009 16:25:22 -0400 (EDT)
From: Matthew Belmonte
To: Letters@newsweek.com
Subject: letter for publication
Cc: Claudia Kalb


Claudia Kalb’s 25 May article “Erasing Autism” describes Ari Ne’eman as a “master networker,” “sociable,” with a “well-timed sense of humor.” These characteristics are exactly why Mr Ne’eman is no more qualified than you or I to speak for people with autism.

There are many of us who as children had trouble with loud sounds, were fascinated by sensory patterns, lined up our toys in order of size or colour, had a nervous habit of hand-flapping, couldn’t immediately recognise new faces, felt anxious looking into others’ eyes, spoke too softly or too loudly, shied away from flexible social interaction, and spent most of our time gazing at railway cars, poring over science books, or programming computers. I know: I was one of them. I’m convinced that the same genetic susceptibility that made me a scientist is what made my brother and my niece autistic. BUT THIS MILD SIMILARITY DOESN’T MEAN THAT I HAVE AN AUTISM SPECTRUM CONDITION – and mis-applying that label, as so many detail-focused and mildly socially awkard “geeks” now seem wont to do, devalues the diagnosis for those people who really _are_ severely impaired.

Here’s the difference: My brother cannot speak, and is lucky to get out a couple of hundred words in an hour of painstaking pointing at a keyboard. (Many of those words are devoted to how frustrated he feels and how he’d like to have a cure.) My niece has speech, but can’t use it for flexible social communication. Both of them have such trouble controlling their own behaviours and bodies that, absent a miracle, they’ll never be able to live independently.

We families want that miracle, and we will not allow Mr Ne’eman to take it away from us by blurring the important distinction between severe autism, which is a disease to be cured, and milder forms of autism spectrum condition, which need not be treated as disease.

Mr Ne’eman makes an important point about the need for societal acceptance and accommodation of Asperger syndrome and autism. (Two huge unmet needs are augmentative technologies for communication and supported or sheltered places of employment.) Fundamentally, though, one has to live in the world, and like it or not, the world is defined by the majority. Being unable to speak, or to use speech communicatively, or to control one’s behaviour places a person at severe disadvantage – and that is the real tragedy.

Much of the rancour surrounding the prospect of a cure for autism stems from confusion over what we mean by “cure.” To me as an autism researcher, a cure is a treatment that augments and does not take away. A cure is something that confers on people with autism the social and communicative capacities that allow their unique insights to be shared with the rest of the world. It is not something that deletes those insights.


From: Matthew Belmonte
Subject: Re: Autistica Discover Conference
Date: Mon, 1 Jul 2019 16:46:55 +0100

Dear Professor *****

At this past Thursday’s Autistica Discover Conference in Reading I was dismayed to hear you- of all people!- question whether autism were something that ought to be prevented. That moment has stuck in my mind during these past days. I didn’t stand up at the end of your talk to take issue with your position, because I was so literally dumbfounded, that someone who’s devoted so much time and scholarship to work that has demonstrated potential to ameliorate- and indeed perhaps in borderline cases to prevent- autism.

I did later scribble out what I wanted to say, and during the question time at the end of the conference’s closing panel I raised my hand to say it, but alas was not called on. Here it is:

I am brother and uncle to two people with autism.

I’m also a neuroscientist studying autism, and have served on the Scientific Review Council of Cure Autism Now.

My brother and I always have thought in similar ways and been fascinated by the same sorts of stimuli, and I always have held the thought that I could have been he, or he I.

My brother can’t speak. On a good DAY he can laboriously and haltingly type a few tens of words. In a bad YEAR, he was beaten daily because when he would run away from the ‘training centre’ where this was happening, nobody stopped to understand what he was trying to say.

The reason I want to cure autism is that I want him and people like him to be able to share their unique insights with the rest of the world. I don’t at all want to delete those insights. I’ve made this point in my public speech for the past two decades.

It’s very hard to fight for scientific and social understanding of autism whilst simultaneously fighting all the people who equate prevention and cure with eugenicism and genocide. I wish that you wouldn’t fuel that rhetoric and that false narrative.

Very sincerely,
Matthew Belmonte

You can read this post here: https://www.facebook.com/Matthew.K.Belmonte/posts/1245483425630265

From Alycia Halladay, PhD, CSO of the Autism Science Foundation:

There has been some back and forth about a brand of early intense behavioral intervention for ASD called Early Start Denver Model, or ESDM, in the past few weeks.  Unfortunately a valid and important scientific debate has crept into the mainstream calling question into the use of early intensive behavioral interventions, period.  That’s nonsense.  I am very afraid that the result of these scientific debates on type and brand and magnitude of effect, will lead to a distrust in early intervention for symptoms of ASD.  I think during all the back and forth on may be clouding the message to families about the importance of early intervention.  The magnitude of the effects are variable, they may not be monumental, but early behavioral intervention is important.  Now after reading this, I’ve got you curious and you might be thinking: what is going on?  I’ll explain.



In 2010, a research group published the first randomized control trial of an early intervention for kids who had been diagnosed with ASD between 1 ½ years of age to 2 ½ years of age1.  The intervention was Early Start Denver Model, or ESDM, but as I will mention later, it falls into a larger collection of naturalistic developmental behavioral interventions.   These interventions have things in common: they are implemented in natural settings, involve shared control between child and therapist, utilize natural contingencies, and use a variety of behavioral strategies to teach developmentally appropriate and prerequisite skills.  They use principles of ABA, which helps the child know when to respond and when the clinician should provide feedback.   There are several of these now, thankfully, because very few existed before 2010. Others  (but not all) that fall into this category are called JASPR or  Joint Attention, Symbolic Play, Engagement, and Regulation, or SCERTS which stands for Social Communication Emotional Regulation and Transactional Support.  There is also a Canadian version of naturalistic developmental behavioral interventions called the Social ABCs in Canada.  What brand you receive may depend on what you have access to in your community or research going on in your area.  Since 2010, these types of interventions have also shown to be effective using randomized clinical trials.   I’m not saying these interventions are identical, because they are different in what they emphasize and how they are trained to be delivered. Some of these interventions mostly target social and communication skills, whereas other, such as ESDM, target all domains of skills, including things like fine motor skills.   It’s good to have choices.  I am not speaking on behalf of the researchers, but I don’t believe any one of the clinician researchers who study these interventions went into the research thinking that any one particular named intervention should be the only one used by everyone.    I would be thrilled if my daughter had access to any one of these named interventions.   Many of them have been adapted to be parent-delivered, which is incredibly important because let’s face it, 2  year old kids spend most time at home with their parents and it’s important for parents to at least learn what they could be doing in the home and in different settings to promote different behaviors and redirect other behaviors.  Getting these home-based models to work has been more challenging, because parents sometimes say, and I get it, I don’t come to your job and tell you what to do so don’t come to my home and tell me what to do.  But generally, they are well liked.  Without going into too much detail about these, I really hope you have the time to read a more comprehensive discussion of these interventions here.  The link is to an article that is open access, so enjoy.

Untitled design (12)This first randomized clinical trial compared the progress of kids offered ESDM to kids who received whatever was available in the community prior to 2010. It used both therapists and parents. Remember,  it was  published in 2010, so the work was done earlier to 2010.  The results  of this study showed that, after two years of intervention, children who received ESDM made larger gains in IQ, language, and adaptive behavior compared to kids who received whatever was offered in the community at the time.  In addition, some kids changed from an autism to a PDD-NOS diagnosis, which means they gained some skills in social and cognitive ability1.   The study was relatively small, but it did, and does, show that ESDM intervention delivered early resulted in gains for young kids with ASD.  The team then took their findings a step further by showing that brain function was changed to look more like typical children compared to those receiving community based intervention after two years2.   They kept following up these families and showed that improvements were sustained 2 years after the intervention, when the kids were now 6 years old 3.  In fact, other groups have replicated their findings (just the behavioral findings, not everyone has access to brain activity, or EEG monitors).  This includes improvement cognitive function in young children 4,5.   Because of these gains, the cost of autism services in kids who had received ESDM was lower after they left the ESDM study6.  Studies outside the US have also shown ESDM to be effective.  All of these things are good news even if the gains are not what  some people would consider “drastic”, functioning was  improved in the short and long term, and it corresponds to how the brain functions.

Just recently, as in a few weeks ago, another study looking at ESDM was published by the same authors that published the 2010 study.  This time, the age was pushed down a few months, and it included three sites7.  This was great.  These changes from the first study increased the number of children involved in the study, and diversified out who was getting the intervention.  It added a parent coaching phase at the beginning since the parents are so involved in the intervention.  This parent coaching component had been refined by the team for years and was found to really help parents.  The pre-defined primary endpoint was a standardized test of language ability rather than cognitive ability or adaptive function, although those things were included. Some things that make it an example of a well-designed clinical trial are:    The treatment was manualized. Therapists were trained and monitored for fidelity of implementation.  Outcome assessments were conducted by examiners naive to group assignment.  Data were managed and analyzed independently by a data coordinating center with strong expertise in clinical trial methodology. Investigators had no access to the data.   So, what did they find the second time around, almost 10 years later and with small changes in the protocol?

There were greater improvements in expressive and receptive language in the children who received ESDM, compared to the community group, however, this effect was only seen at 2 out of the 3 sites.  Also, unlike the 2010 study, there was no difference in the improvements in cognitive ability, adaptive behavior and autism severity between the two treatments. In fact, in these areas, everyone showed an improvement, regardless of treatment group.   Everyone showing an improvement with no differences between groups is a good thing.

A scientific magazine which is read by the community pointed out the criticisms of the latest trial.  The article itself calls into question the required size of an improvement in skills that is meaningful.  Is an only “mild” improvement not clinically significant?  Who makes that judgement?  That was left for the reader to decide.  There was a greater than expected chance that language ability was more improved in the ESDM group compared to treatment as usual, and both groups had cognitive and adaptive behavior gains across the time periods studied over the course of the 2 years.  Cognitive function is measured differently across time, measuring it just in toddlers shows different trajectories8.   A finding of improvement in both groups but lack of difference on all measures is an unfair criticism.  Kids in both groups received about the same number of hours of intervention.  Researchers including Elizabeth Berry-Kravitz who works in community-based settings, have noticed that more and more, knowledge and skill are being brought into the community and this is leading to better community-based treatment.  This is likely why there may not have been an effect – the community interventions got better since the original study.  That’s something to celebrate.  Of course, not all families live in communities that provide high levels of early intervention. We have a lot more work to do to make sure that all children in all communities get access to evidence-based early intervention.

As a parent of a young child with autism, don’t be dissuaded from this particular controversy.  Have faith that behavioral interventions have improved over the years, if you get the opportunity to enroll your child in a program or study that examines one of these named interventions, take it, and realize that your participation  will improve the long-term gains that your child will make in the short and the long term. Parents and family members who read about this controversy should not be dissuaded from enrolling their children in ESDM programs or any other naturalistic developmental behavioral intervention program.


  1. Dawson G, Rogers S, Munson J, et al. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics. 2010;125(1):e17-23.
  2. Dawson G, Jones EJ, Merkle K, et al. Early behavioral intervention is associated with normalized brain activity in young children with autism. J Am Acad Child Adolesc Psychiatry. 2012;51(11):1150-1159.
  3. Estes A, Munson J, Rogers SJ, Greenson J, Winter J, Dawson G. Long-Term Outcomes of Early Intervention in 6-Year-Old Children With Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. 2015;54(7):580-587.
  4. Touzet S, Occelli P, Schroder C, et al. Impact of the Early Start Denver Model on the cognitive level of children with autism spectrum disorder: study protocol for a randomised controlled trial using a two-stage Zelen design. BMJ Open. 2017;7(3):e014730.
  5. Vivanti G, Dissanayake C, Victorian AT. Outcome for Children Receiving the Early Start Denver Model Before and After 48 Months. J Autism Dev Disord. 2016;46(7):2441-2449.
  6. Cidav Z, Munson J, Estes A, Dawson G, Rogers S, Mandell D. Cost Offset Associated With Early Start Denver Model for Children With Autism. J Am Acad Child Adolesc Psychiatry. 2017;56(9):777-783.
  7. Rogers SJ, Estes A, Lord C, et al. A Multisite Randomized Controlled Two-Phase Trial of the Early Start Denver Model Compared to Treatment as Usual. J Am Acad Child Adolesc Psychiatry. 2019.
  8. Henry L, Farmer C, Manwaring SS, Swineford L, Thurm A. Trajectories of cognitive development in toddlers with language delays. Res Dev Disabil. 2018;81:65-72.


The rate of under or unemployment in the autism community is high, and many


Neil Barnett

solutions for improving opportunities for people with ASD are being tested.  One of them is called the Autism@Work Employer Roundtable.  Neil Barnett at Microsoft helped create this program for helping people with autism become employed at companies including, but not limited to, Microsoft.  This program has been featured on many news outlets and has gotten a lot of attention.  Neil was gracious to answer some questions for me about the program and what is aimed to do.

Describe the Autism @ Work Employer Roundtable.  How did it get started, and what is it really?

The Autism @ Work Employer Roundtable is a growing group of employers, across industry and size, that have committed to hiring individuals with Autism, in a programmatic manner.  The goal was to bring these diverse employers together to share best practices and help each other with the goal to hire more individuals on the spectrum, given that 80% of people on the autism spectrum are unemployed or underemployed. We came together as a resource to help other employers looking to start programs. Recently, we’ve come together and collaborated with the University of Washington Information School to develop an Autism @ Work Employer Roundtable Playbook, a resource aimed at providing programmatic guidance for organizations looking to start their inclusive hiring journey.

Who are currently members?  Are other businesses invited to attend?

You can find the most current members on the our website. The Employer Roundtable includes a diverse range of organizations, including Microsoft, Ford, EY, JP Morgan Chase, SAP, Cintas, IBM, Travelers, and Rising Tide Car Wash. This last year, the Employer Roundtable grew from 5 to 15 organizations. We also welcome any company, who has been running an organized program to hire people on the spectrum for over a year, to join the Autism @ Work Employer Roundtable.

Why do these companies participate?

Each organization participates because they want to learn from other employers on their journey and share what they are experiencing in order to empower more people to be successful in the workplace. This is a space where companies do not compete. We are all looking to hire talent from this community and change the unemployment rate for people on the autism spectrum.


What can someone expect after they fill out the application?

The interview and hiring process for any candidate differs by employer. Through the Autism Hiring Programat Microsoft, we use a cohort model where we invite candidates to come to our campus and participate in a skills assessment program, gain feedback via mock interviews, and meet with hiring managers. We also offer each hire an immersive onboarding process with a comprehensive set of services to support the transition to working at Microsoft.

It is important to keep in mind that every company culture and process is slightly different. You can check out the Employer Roundtable website that gives examples of the opportunities that are available and to start the process.

What kind of background is the Roundtable looking for? In other words, who is most likely to be matched with an  opportunity?

Although we welcome all types of backgrounds, we commonly see experience in IT, testers, cybersecurity, and developers, but there is also a wide range of non-technical roles where employers are looking to hire great talent.

How does the roundtable partner with other organizations which help people with autism get jobs?

We partner with universities, non-profit organizations, and service providers to spread awareness of our programs and that we are hiring and looking for talent. We come together to see how we can help other employers start similar programs as we see disability as a strength, and we are always looking for partners to help.

Where can I find more information about the roundtable? 

The Autism @ Work Employer Roundtable websitehas all the important information and includes a job listing board for anyone interested in applying for available positions within each program.


A 2018 Year end Review of Scientific Research

Authored by

Alycia Halladay, PhD, CSO of the Autism Science Foundation and thedsc_0726

Scientific Advisory Board of the Autism Science Foundation with sincere thanks to

Cheryl Cohen at the Interactive Autism Network


Researchers have known for some time that individuals with autism spectrum disorder (ASD) and their family members show increased rates of psychiatric conditions including anxiety, depression, and attention deficit hyperactivity disorder (ADHD).  A staggering one third of children with ASD also have those one or more of those disorders.1 This year’s research has given the community a deeper understanding of the biological connections between these conditions, shared genetics, and why ASD  may be part of a larger spectrum of psychiatric issues affecting children and adults.

Crossover in diagnosis and in genetic profiles

Until the recent changes in the Diagnostic and Statistical Manual(DSM) (a psychiatric handbook used by doctors, therapists, and others in the U.S. to diagnose mental, behavioral, and developmental disorders), 1a person could not receive a diagnosis of both ASD and ADHD, so the clinician normally chose one or the other.  Researchers only focused on the presence of ADHD orASD in families, rather than the crossover. Recently, researchers looked at first-degree relatives (parents, siblings, and children) and found  a higher rate of ASD among those with ADHD and ASDas well as bipolar disorder3and schizophrenia4. A recent study that looked at all of the previous studies of anxiety that occurred alongside of  ASD showed that adults with ASD were twenty times more likely to have anxiety and much more likely to have obsessive compulsive disorder (OCD) than people without ASD7.   Evidence from young children suggest that there is great overlap in early predictors of anxiety and autism, which may diverge as children get older, forming two separate disorders8.  By focusing in on those with co-occurring diagnoses or enriched family history, scientists see distinct cognitive profiles 5and behavioral features6.   This means that while there is crossover, there may also be specific subgroups of ASD formed by the presence of co-occuring psychiatric symptoms.

scoring-goals-kids_courtesytoAlyciaHalladayAnother study showed that co-occurring psychiatric disorders like depression and anxiety may be related to the gastrointestinal issues experienced in people with ASD9.  This research provides further evidence that people with autism and their family members need thorough evaluations for mental health issues.  Unfortunately, people with autism have a higher rate of unmet mental health needs than other groups10.   The results of this study along with follow-up research published this year, identify factors such as availability of family centered care11and out of pocket co-pays12which affect access to the help that families need.

Anecdotally, the Autism Science Foundation often hears from family members of those with ASD wondering if a family history of a multitude of psychiatric issues had anything to do with the ASD diagnosis.  The answer now is probably closer to a ‘yes’ than it was before, but that does not mean that anybody should ever feel guilty about another person’s diagnosis.

Based on these numbers, it is not surprising that several psychiatric issues, including ASD, all share common underlying genetic mechanisms.   First, looking at the genetic profile of brain tissue obtained from the cortex of individuals affected by ASD, schizophrenia, bipolar depression and major depressive disorder, scientists revealed overlap in genetic expression.  This overlap was highest between ASD, schizophrenia and bipolar depression13.   While there is overlapping genetics, the brains of people with schizophrenia have a distinct lipid profile compared to autism, suggesting that schizophrenia, unlike autism, looks like accelerated aging in the brain.14Also, critical research from brains of people with autism compared to schizophrenia and bipolar disorder show that while gene are expressed similarly, the tiniest differences lead to different outcomes.   Those with schizophrenia and bipolar depression express different isoforms, or end products of gene expression, which markedly changes what proteins are made15.  These proteins are then what differentiate autism from schizophrenia.

Turning to analyses of gene function across these overlapping genes, these three disorders also showed similar impact of synaptic genes and those affecting the central nervous immune system13.   Another landmark study included genetic information over 1 million people worldwide, including those with 17 different psychiatric (such as autism) and neurological (like Parkinson’s Disease) disorders.  Psychiatric disorders were more similar to each other in genetic profiles than they were to neurological disorders, and while autism showed distinct genetic features, it overlapped with schizophrenia16.   The sample used included mostly those with high intellectual ability and college attainment, so it is possible that some other relationships were not observed because of the heterogeneity of symptoms.  Also of interest, ASD, ADHD, and schizophrenia are psychiatric issues with high genetic influence with similar trends in calculation of heritability across these three disorders 17.   The differences across studies in heritability estimates are likely the result of all three of these conditions being the result of a variety of genetic and environmental factors, and differences in genetic factors within each disorder.   No one gene causes schizophrenia, bipolar depression and autism, and even though there is overlap, it is unlikely that the same gene causes all three.   While ASD can be considered an umbrella, it is now more likely than ever that schizophrenia, ADHD, and bipolar disorder are a larger umbrella over the autism umbrella. Scientists note that misdiagnosis occurs frequently between these disorders, so some genetic overlap is probably not surprising.

Exploiting genetic differences for new treatments

Given these findings, it seems important to include these fraxa-Sebastian_courtesytoFRAXAResearchFoundation-link
other disorders when researching autism to identify commonalities and differences to exploit any therapeutic successes one disorder has had.  That does not mean that what works in one group is always going to work in another group, but it can begin an important scientific conversation.  Differences within the autism spectrum are seen in syndromes with a high prevalence of autism.  For example, people with Phelan-McDermid Syndrome, or PMS, have autism about 70% of the time18.  About 75% of people with Fragile X syndrome also have ASD19.  Given this overlap, researchers have started to find out which interventions work for forms of ASD with and without known causes  20-21. Because people with a syndromic form of autism are more similar to eachother than those without an established genetic link, starting from a place where there are fewer behavioral differences will provide answers, maybe even faster, than if scientists only studied those with no known established genetic link.

A new collaboration across these different rare genetic groups, called AGENDA, was formed this year. AGENDA will allow patient advocacy groups to share solutions to common problems experienced in research and by families.

One example of scientific evidence why these different rare genetic disorders overlap comes from brain tissue research.  Researchers who study the brains of people with autism examined a protein, called FMRP, which is missing in people with Fragile X syndrome.  They looked for this protein in those with a genetic form of autism called Dup15q Syndrome, as well as those with idiopathic autism.  Idiopathic autism is a term for those with no known genetic cause of autism.  The researchers found similarities between expression of FMRP in the same brain areas of those with autism and a known genetic mutation of chromosome 15 (Dup15q Syndrome), as well as idiopathic autism22. This could mean that targeting FMRP is a viable therapeutic option for all forms of ASD, regardless of genetic makeup.  These findings would not be possible without the Autism BrainNet, a resource that supports the collection and analysis of brains of people with autism.

itb-headTo learn more about the Autism BrainNet, and importantly, to register to receive information every quarter on the progress of research thanks to studying brain tissue, go to www.takesbrains.org/signup.

New prevalence estimates, old numbers 

The question of “how many people have an autism diagnosis” seems to have a different answer depending on when, where, and how you ask.  This year was no different.  Global prevalence numbers across the world continue to be collected and analyzed and are influenced by culture, stigma, and the availability of diagnostic measures. Within the U.S., epidemiologists again saw two different prevalence numbers.  The first, 1:59, was collected using the Autism and Developmental Disabilities Monitoring Network, examining educational records of those who had received a formal diagnosis24.   It matches prevalence numbers from 2016. The other number came from an online or mail survey, previously a telephone survey, which asked parents whether they had a child with an ASD diagnosis.  That number was reported in November 2018 as 1:4010.   Different scientists have argued the advantages and disadvantages of each methodology, and they both have their strengths and weaknesses.

A prevalence study of autism diagnosis across time from Denmark might help reconcile this difference in numbers.  As it turns out, prevalence of ASD rose in Denmark with age, as there are additional opportunities through school age to be identified25.   In that study, the prevalence of ASD was the highest reported so far: 1:35 in 16 year olds born in 2000-2001, suggesting for the first time that prevalence may change with age.   Since the ADDM study examined 8 year olds,  and the 1:40 study examined children across different ranges, age may be a factor in prevalence.   Additional data from the U.S. suggests that a small group of individuals who miss the diagnostic cutoff at age three, might meet it at age five26.  There are some kids who teeter on a diagnosis for years. Whether or not 1:59 or 1:40 is closer to the true prevalence of autism still remains to be seen, but the MMWR does report unique:  it further illustrates the racial and ethnic disparity in access to diagnosis seen in the U.S.24   More work in better identifying people with autism at different ages, and from different backgrounds, so nobody is missed, is sorely needed.

Where are the girls?

agenda-heidi2_nocreditgivenThere is also a disparity in diagnosis between males and females, and while exact ratio of 4:1 males to females diagnosed has been questioned, there is a real and consistent difference in the number of men vs. women diagnosed with ASD.   Researchers are searching for the causes of these differences, and how they change over time.  For example, young females with autism show better attention to social scenes, which may reduce autism severity and lead to fewer diagnoses in girls27.  In addition, as children, the special and restricted interests of girls are different from boys’ interests.  That is, there preferences are similar to neurotypical girls 28.  These differences may potentially lead to some girls with autism being missed. In a subset of females with autism, specifically those that have higher intellectual abilities, some show more typical brain responses compared to males29, suggesting they can mask their symptoms.

However, researchers cannot rule out a biological underpinning of a sex bias. Sex hormones (androgens) at critical areas of development can influence the function of brain circuits associated with autism, and a sex bias as a result of hormone exposure or alteration in hormone levels is possible30.    During key points in brain cell development, these hormones can cause the cells to divide too quickly and affects disruptions in how cells turn into brain cells or other types of cells in the body31, which are features of cells in autism.  Unfortunately, many studies looking at environmental factors that lead to autism in males and female children have either not shown a difference across sex, or not looked at sex of the child 32-34. This  prevents researchers from determining whether these environmental factors result in a sex bias.   The presence of the core features of autism seem to be similar for both males and females, though they may differ by severity or age.  For example, in a large study conducted in the U.K., males started out with higher autistic social traits, but as adolescence approached, that was no longer the case35.  Features of autism in males and females, may change over time, or get more or less severe, depending on sex.

If  the core symptoms are present in females, why are fewer females diagnosed?   This continues to be an important area of research.  We do know that females do not escape the conditions that occur alongside  ASD. Previous research has shown a higher level of internalizing behavior in females with ASD.   Internalizing behaviors are those that are inwardly expressed, including depression and anxiety. Externalizing, or outwardly expressed behaviors, include acting-out behaviors such as aggression or impulsivity. This year, scientists examined another outward symptom: hoarding.  Children with autism are five times more likely to show hoarding behavior . This is similar to the hoarding rates in ADHD and OCD36, with girls showing more hoarding behavior than boys do.

Genes and environment, not genes or the environment

Since environmental factors were just mentioned with regards to sex differences, it should be noted that while environmental factors may not account for the sex bias in autism, they continue to be investigated and reported as influence in an ASD diagnosis.  For example, there continues to be mounting evidence that air toxins, including air pollution, produces an increased probability of having a child with autism33,34,37.    Since the type and source of air pollution varies by country and region, it is not surprising that there may be some variability in the findings – with some studies showing an effect of one chemical, and others another component of air pollution.  Air pollution as a whole should be of high concern across the world, and research should continue to build scientific evidence of its harmful effects, not just in autism, but also in many developmental disorders.   A chemical which scientists thought was no longer a problem because it had been banned 20 years ago, was recently associated with autism38.  While the effect was not large, it should serve as a reminder that known toxicants don’t always disappear when legislation changes, or manufacturing processes evolve.   Other maternal health factors have been shown to influence later autism diagnosis, from polycystic ovarian syndrome in mother32, history of immune issues39, and even opioid use before conception40.

Though it is important to find factors that may contribute to autism, it is also very important to identify factors that don’t contribute to autism.   This year, researchers in Scandinavia were able to dispel the theory that autism is caused by too many antibiotics given because of  frequent ear infections41.

While scientists continue to make significant progress in understanding the role of genetics and genetic influence in autism risk, they were unable to better illustrate the mechanisms by which genes and the environment interact.  However, new ways to study the environment in autism have emerged.   Researchers were able to show the feasibility of using baby teeth to study environmental exposures during pregnancy.  Because the layers of the teeth form like rings on a tree during gestation, each layer can be analyzed precisely to examine month-to-month environmental exposure or change in metabolism.  This year, researchers who examined baby teeth of those with a later autism diagnosis, found that the normal cycles of zinc and copper, which occur as part of normal biological processes, were altered in ASD42.  This might reflect an inability to detoxify the body following an exposure during pregnancy. However, that theory needs further study.

Also in 2018, researchers used brain tissue to show that genes relating to mitochondrial function were altered in those with autism, and the changes correlated to genes which affect how brain cells, or neurons, are shaped and function.  These findings suggest that mitochondria, which are the targets of environmental factors, may act by altering the function of autism-related genes43.

101917_TI_noncoding-DNA_main_FREEIn the past decade, researchers have added greatly to the understanding of autism genetics.  And many of these discoveries are actionable by families!  Because whole genome sequencing technologies have become more accessible and available to more research labs, new types of genetic contributions are being discovered. In the past, geneticists have focused on areas of the genome which code for proteins, as these are the areas there were thought to have the most influential effect on brain development.   In late 2018, thanks to newer genetic technologies, new parts of the genome were able to be studied in relation to autism. They include regions of the DNA which serve as traffic lights – either stopping or starting the reading of genes from the genome44. They are called “promotor regions”.  I’ll mention other areas of the DNA that were discovered to be associated with autism a little later.  Past research has demonstrated that these more detailed genetic analyses can identify mutations that are targets of pharmacological therapy, and new emphasis on variations in the genome outside the traditional areas can lead to newer therapies.

It is likely that there will be an increase in the discovery of rare genetic mutations that strongly influence autism diagnosis.  One type of mutation, called de novo mutations, are not seen in either parent, but are seen in the diagnosed individual.  These gene changes sometimes overlap with autism, intellectual disability, and those that are involved in brain function.   Right now, there are about two dozen rare de novo gene mutations accounting for about 10% of the cases of autism.   With more information from whole genome sequencing, this percent may increase.

But what about the rest of autism?  Is it all caused by de novo mutations that occur spontaneously?  There is another type of mutation called  common variation. The theory behind common variation is that autism symptoms are a spectrum, and to some degree everyone may fall on some part of the spectrum of autism traits.  These traits may correspond to specific genetic signals.   In most cases, autism develops from the right combination of , or too many,  common variants, including known autism risk genes and those that aren’t associated with autism.   This year, the percent of individuals with autism with common variants was estimated at around 8%94.  As mentioned earlier, scientists now believe autism sits on the spectrum with other psychological issues and therefore, the genes associated with traits in the parents can combine, leading to increased chances that the child will receive an autism diagnosis45.    Some of these are inherited, some may be de-novo, but they are not always inherited as autism genes, they can be inherited as common variations across the genome.   More evidence comes from understanding the broader autism phenotype in families. Instead of looking at individuals with autism and their siblings, researchers explored genetic markers in all family members like parents, including ones with the broader autism phenotype, and found overlap in some of the genetic markers46.  Even within families with lots of differences in clinical presentation of symptoms, there are some overlapping genetic factors.  This demonstrates the importance of common variation in autism.  However, it’s important to distinguish common variation that determines the color of our skin, to common variation which leads to autism.  Common variation does not mean that genes associated with hair color can combine and lead to autism.   These genes involved in common variation are known to control the way different brain regions connect with each other, how brain cells are shaped, and how they function.   Common variation means that there may be different subgroups of autism caused by different subgroups of genes that can be inherited and de novo.   And this expands what scientists learned last year, that common variation works together with rare variation, it’s not one or the other.


Mutations in promotor regions seen in people with ASD.  From An et al., 2018.

Now back to new genetic findings thanks to whole genome sequencing.  As explained earlier, new areas of the genome are able to be studied thanks to new genetic technologies.  Two different research groups discovered this year that other areas, called non-coding regions, harbor variants that confer risk for autism47,48.  Those promotor regions discussed earlier are also non-coding regions, but these studies looked at expression in family members.   Using this design,  geneticists calculated that the origin, while not the mutation but the origin of the mutation, came from the father’s side47and a model of combined influence of paternal and maternal factors to generate these seemingly “new” or “de novo” mutations emerged 47,48.  It should be noted, however, that these findings should be viewed with caution because  there are a lot  of different places to look on the entire genome and scientists may need to adjust their statistical analysis techniques to make sure their findings are not by chance49.  In other words, stay tuned.   What geneticists continue to be excited  about is the discovery of new genes that are targets of existing therapeutics and can explain co-occuring medical or psychiatric symptoms45.  A better understanding of these targets is needed, which is why animal models are so important.

Animals don’t have autism, but they can tell scientists a lot about autism


Photo courtesy of Jill Silverman, UC Davis

Once scientists identify a target  in the brain of someone with autism, it might take years of effort, money, and patience for that discovery to turn into something that can help people.  This is a difficult wait, but it can pay off. This year,  a new drug received fast track approval to treat the core symptoms of autism:  balovaptan50.  It targets the vasopressin receptor. It  has been shown to positively influence social interaction and social communication in adults.  But the road to balovaptan had to start with animal models – not just to see if it works but also to explore what dose, and what behaviors were the most promising to target in people.

These models are becoming more sophisticated, more specific, and with each model comes a better approximation of autism symptoms.   For example, researchers are using rats to examine social communication deficits that better approximate conversation51.  To be clear, autism is specifically human, but new therapies are becoming closer to real possibilities with the help of these models– for what works, and what does not.   For example, environmental enrichment (a rough approximation of behavioral intervention in rodents) has been shown to be beneficial in some models of autism, but not so in genetic models like SHANK3 knockouts52. Parents of those whose children did not benefit from behavioral intervention see this as a possible explanation for why they haven’t seen progress. However, it does not mean that early behavioral intervention is not effective but that behavioral intervention may not work as well as in others for a variety of reasons, including genetics.   These models have identified existing drugs can target autism-related behaviors in SHANK models of ASD53.  These animal models can also help researchers identify similarities and differences on a cellular level between neurodevelopmental disorders, including ADHD and ASD54, narrow down the mechanism of sex differences in autism,55as well as better understand the contribution of individual genes to ASD as part of a larger group of genetic mutations, which is the case with most people with ASD56.

Another important model for autism is the use of cells


Example of groups of stem cells in a dish, called “organoids”

obtained from people with ASD. Researchers are able to turn skin cells into embryonic-like cells, called induced pluripotent stem cells, and then  into brain cells, or any type of cell they want.   Isn’t this totally amazing?  Scientists can use skin cells and turn them into brain cells and study the function of those cells57.   Induced pluripotent stem cells obtained from humans can also offer results fairly quickly, allowing scientific advances to emerge more rapidly than by obtaining and using brain tissue58.   They can also allow for multiple sets of questions to be answered at once, by introducing new genes, environmental factors, or both into the mix58.

This process does not replace the important resource of studying cells directly from brains of people with autism. However, there is just not enough brain tissue to use so scientists are exploring other options.  In fact, researchers use a combination of brain tissue analysis and neural stem cells to identify specific molecules in brain development in those with ASD, and the function of those molecules by inserting those molecules into neural stem cells59.  It has validated the role of some small molecules in both brain development in ASD, and the continued production of cells in the brain including those that share information and those that have more support roles59.   Using cells as a model for autism has huge potential for better understanding of the basic biology of ASD, which will lead to better individualized interventions.

Genetics and intermediate level phenotypes:  endophenotypes


Extra-axial fluid in the brain of a child with ASD (right).  Credit: Mark Shen, University of North Carolina at Chapel Hill

Scientists are spending more and more time identifying the endophenotypesof autism to better understand autism subgroups.  Endophenotypes are groups of biological markers that might serve in better diagnosis, but are not autism.   They are usually tied to genetics.  These markers are incredibly important in both understanding the development of autism and  serving as objective markers for treatment protocols.  They can include brain activity, brain structure, or behaviors like language delay.

This year researchers explored some of these endophenotypes not as a single biomarker, but things that could be added together to create a profile of probability of a diagnosis. The Baby Siblings Research Consortium, a group that  tracks infants from high-risk families through diagnosis and adolescence, has made great advances this year.  For example, early language abilities, especially understanding language, emerged as a strong endophenotype60. In fact, persistent language delay predicted ASD outcome in an independent group of kids61, reinforcing its use as an intermediate phenotype.  In addition, changes in brainwave patterns, even as early as three months of age, years before a diagnosis, were shown to be a strong predictor of diagnosis62and even abnormal brainwave patterns without full blown seizure activity is common in those with ASD63.  Measuring brainwave pattern through a technique called electroencephalography or EEG is viable in a number of different common clinical situations and might be used in larger scale studies besides those with high genetic risk for ASD. In addition to studying brain function, features of brain structure were also identified.    Multiple replications in different samples showed a significant increase in extra axial fluid around the brains of children with autism64.  This could be a marker of a biologically distinct subtype of autism.   Researchers continue to study endophenotypes as markers of change, improvement, or prediction.

Better outcome measures for better treatment

While progress is being made in biological features of autism which can stratify different subgroups of autism, or measure biological differences across time through treatment to measure change, they are not yet ready for use in clinical settings.  Unfortunately, the  behavioral measures that scientists have used so far to measure treatment response were either developed for people without ASD, or those that were not intended to differences across time.  Researchers have been working for years  on developing measures which are based on clinician observation to document progress and can detect these improvements.  This year, the BOSCC, or Brief Observation of Social Communication Change was validated65and is now being used in ongoing research studies.  It is also important to note that this year,  interventions were delivered in even a wider choice  of settings.  Preliminary results showed that Early Intense Behavioral Intervention, based on the principles of ABA, improved cognitive functioning and allowed for less restrictive school  placements66.   ABA or applied behavioral analysis, should be considered more as a set of guiding principles  delivered by trained clinicians, rather than one specific practice. Importantly the interventions were delivered by trained community providers, which is where most kids and autistic adults receive help.  Moving some of these interventions into the schools can be  challenging, but progress was made this year.    At the risk of sounding like a broken record, teachers are overworked, underpaid, sometimes unappreciated, but in most cases, they want to do what is best for their students.  There can be wide variability in how teachers implement what they have learned during training into a chaotic classroom with students of varying needs. Despite this, teachers have taken on interventions  that focus on things like transitions in elementary classrooms, with some success67.  This has required developing outcomes based not just on child outcome, but teacher behaviors as well.  Going forward, not only is there need for new measures,  but also continuing partnerships from clinic to real world practice68.

Autism, employment, and suicide

Autism originates in childhood, and researchers have focused a lot of their time understanding autism in childhood.  There is still much to be learned, including predicting adult outcomes based on features of autism in childhood, better understanding of the early signs and symptoms for better understanding of autism across the lifespan, the role of early intervention on longer term trajectories, and how early biological markers can help in better diagnosis and understanding of symptoms.


photo courtesy of Extraordinary Ventures

An increasing number of researchers are focusing their efforts on factors that affect the quality of life, rather than autistic symptomatology, of individuals at all ages. This year, the International Society for Autism Research provided support for the development of a policy brief on employment in people with autism, and some of the early results support the need for a strengths based approach to employing people on the spectrum69.   They noted that most of the literature has used approaches to manage symptoms in the workplace or help individuals with autism reduce problem behaviors.

An alternative approach could be to identify strengths of individuals and use those strengths productively69.  In addition, based on feedback from families and individuals on the spectrum70, researchers  are using employment as an outcome measure for interventions including  cognitive behavioral therapy71 and other therapies72.

Scientists are just starting to understand a taboo subject in autism that typically occurs in adolescence to early adulthood: suicide.   A recent review revealed that most of the research on suicide in autism has been conducted in the last five years73.  In one study, those with social communication  deficits rather than an autism diagnosis showed a higher rate  of suicidal ideation74.  Social communication deficits as a core symptom of autism, could be the target of interventions to prevent suicidal ideation.  In other studies, those with autism have been shown to have up to a 66% rate of suicidal ideation and 30% rate of suicide attempt75.  Unfortunately, there are still no good diagnostic tools to detect suicidal thoughts in those with autism75.  Specific to the autism community, unmet care needs rose as an important risk factor for suicidal ideation76.  Data gathered about people who are hospitalized for psychiatric problems (psychiatric inpatients)  show that depression and anxiety are important risk factors for suicidal ideation and those conditions should be treated in this population77.

Lessons from the autism inpatient collection

Psychiatric inpatients have as high as a 10% rate of an ASD78, and because of their unique features, those with severe behaviors are often the least likely to be researched79.   Those with more severe behaviors tend to be underrepresented in autism research and their needs are likely misunderstood80  Their needs are often ignored, but thanks to the Autism Inpatient Collection (AIC) (https://iancommunity.org/aic), a research study which includes many of the larger autism inpatient populations, this is changing.  By studying autism inpatients, researchers have the opportunity to examine issues relating to those whose minimal language, intellectual disability, and self-injury requiring hospitalization.  Not surprisingly, rates of documented self-injurious behaviors are higher in a hospital setting than in a community setting because that is why patients are there. In the AIC, those who exhibited self-injury at home and in the hospital had lower IQ and more severe repetitive behavior scores, but no differences in autism severity81.  On the other hand, behaviors such as irritability and hyperactivity are also associated with shorter sleep in hospital settings, which is also not influenced by autism severity scores82.

The lack of connection between autism severity, sleep, and self-injury suggests that self-injury and shorter sleep duration may represent a different dimension of autism rather than a feature of autism itself.

Treatments from plants, pills, and the classroom:

One of the hottest topics this year has been the approval cannabis-sativa-plant_CreativeCommonsCC0of a cannabis drug to treat seizures in people with a rare genetic mutation called Dravet Syndrome.  The drug, called Epidiolex, is a high concentration of cannabidiol or CBD, and was shown effective in clinical trials and its approval, and also opened the doors to study and demonstrate the efficacy in treating seizures of people with a multitude of syndromes besides Dravet83,84.  Cannabidiol, the main ingredient in Epidiolex, is obtained from the marijuana plant, but contains no THC or hallucinogenic cannabinoids.  Nevertheless, the approval of this drug, together with marijuana legalization initiatives in several states, has elevated the discussion on the use of medical marijuana in the treatment of autism.  While the effects of CBD for treatment of seizures is more established, scientists are currently studying the effectiveness of the cannabis plant or other cannabis extracts in treating core symptoms of autism85.

In addition to cannabis, in 2018 researchers explored additional pharmaceutical treatments.  They include drugs that were previously used to treat other conditions.  For example, bumetanide, a drug used to treat kidney failure, showed  positive responses on eye contact in people with autism86.  It also alleviated over activation of the amygdala,86which is thought to be a neurobiological feature of ASD and anxiety.

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Kids with autism have more neurons  in the amygdala, but by adolescence, they have fewer.  Figure courtesy of Thomas Avino at UC Davis

The amygdala is known as the fear center, and ties emotional values onto different stimuli, making it a key area of interest in ASD.  In fact, a groundbreaking study of autism brain tissue from individuals of multiple ages showed that the while kids with autism started out with a higher number of neurons in the amygdala, around adolescence, they dropped to lower than those who were neurotypical87.    This suggests that the excess of cells in the amygdala early on cause this region to be too excited, and possibly leads to toxicity87.  This important finding of a developmental shift in the amygdala in adolescence supports the amygdala as a focus for future treatments.  In addition, simvastatin, a drug used to treat high cholesterol, also showed positive effects in two different studies of autism88,89.

But not all effective treatments for autism come in the form of a pill or an oil.  Behavioral based interventions that were once used only for preschoolers, are now being deployed in classroom settings.  Thanks to patient, supportive researchers who worked closely with dedicated, hardworking teachers, the teachers delivered behavioral interventions that resulted in improved outcomes in students67,90.  These improvements were not easy – teachers must be trained and be willing to incorporate the intervention into the classroom and receive instruction.

Tristram Smith, one of the researchers involved in a study of kids in low resourced schools,67passed away in 2018.  His compassion and dedication to the field is sorely missed. He was crucial in helping to show that teachers and interventionists who work together can make a difference for school-aged kids with ASD.

Through the years

If money and time were no object, there would be more longitudinal studies in ASD.  Longitudinal studies in autism track each person on an individual basis from before they received a diagnosis through adulthood.    Longitudinal research is able to not just look at differences between those with autism and without, but also look at the trajectories of behavior across a few years to a few decades.  These studies can describe features of autism or be predictive in helping identify subgroups that respond to treatment or identify early features to predict later ones.  A collaboration between multiple research groups has tracked a group of people with autism from age 2 to now age 19 and identified common and distinct patterns of behavioral development, illustrating what can happen as children become adults.  It shows that, overall, there is improvement in some symptoms of autism including social communication. However, this improvement  was somewhat dependent on language ability91.  While this is not always the case, it shows that there are always lifelong opportunities to learn, and improvements can be seen in people with autism across the lifespan. Cognitive abilities in childhood seem to play a big role in cognitive function in adulthood, although many children show academic challenges even with normal to high IQ92.  Even in younger children, there is great variability in the trajectories of adaptive behavior, which is a measure of functioning in individuals with autism. Some improve over time, and some decline93. Understanding the differences between people with autism whose symptoms stay stable vs. those that decline may be critically important to future diagnosis and intervention studies. These studies emphasize the importance of early intervention, a tailored individualized approach, and also academic and social support across the lifespan.

What it all means

There were a number of exciting advances in understanding autism in 2018.  Researchers made progress in identifying subgroups of ASD, defining biological markers, and developing  interventions. There were also studies that demonstrate that while autism is a spectrum itself, it is also part of a bigger spectrum of neurodevelopmental disorders from anxiety to ADHD to OCD.  Therefore, the approaches to these other conditions may be applicable to ASD. In addition, there may be more similarities than differences in the biological features of these conditions.

Autism is distinct from other diagnoses, and despite the vast differences in symptom presentation, onset, and severity, findings call for improved access to services across all intellectual abilities and through different generations.

Thank you

The advances in scientific understanding of autism this year are because families trust research with their money, their time, and their expertise.  Thank you to everyone who conducted research into autism, those who participated in a research study or contributed financially.


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Allyson Schwartzman at her graduation from Hofstra University School of Education.

By Allyson Schwartzman

When I was graduating from elementary school, someone on the yearbook committee asked me, “What do you want to be when you grow up?” I will never forget thinking for a moment and then stating “an autism teacher”. In my yearbook, there is a picture of me and under it says “an autism teacher”. You might be thinking this is a very interesting answer for a young child to give, but I had a good reason behind this answer. My twin brother, Robert, has autism and over our lives, I saw the progress he made with many thanks to his incredible teachers. I thought to myself, I would love to be just like them so I can help other children with autism. As I matured and got older, I realized this autism teacher job I wanted really meant that I wanted to be a special education teacher.


Allyson Schwartzman’s elementary school yearbook photo.

When I started college at Hofstra University, I was accepted into the School of Education. I graduated with my bachelor’s degree in Early Childhood and Childhood Education and eventually got a job as a Universal Pre-Kindergarten Teacher in a public school district on Long Island. I had this job for two years while in graduate school for my Master in Early Childhood Special Education and Intervention program, also at Hofstra University. I always knew I wanted to be a special education teacher, however, I had to decide on the age range of students I would work with. I decided to go down this route for my master’s because I fell in love with working with young children. There are so many developmental milestones that a teacher can help young children with disabilities reach. I love teaching and helping children grow their physical, intellectual, emotional, and social development through different fun and engaging activities. By being an early childhood special educator, I am able to accomplish these goals with a variety of different students.

After many endless nights of working and studying, I was able to accept my first position this year as an early childhood special education teacher in an integrated preschool. I finally accepted my dream job! I took a job in an integrated preschool setting specifically because I believe in the importance of integration and having students with disabilities learn with and from their peers. All children with disabilities need to be placed in the proper learning environment that works for them, and I am excited to work in this environment.


Collage of photos with Allyson Schwartzman and her twin brother, Robert.

I am so thankful that my brother Robert has influenced me to go down the path of special education. I am so proud of him and the progress he has made. He drives my dedication to this career choice everyday. It was definitely not an easy road getting here, but I cannot wait to make a difference in the lives of all the students I work with! I can now smile every time I look in my elementary school yearbook because I followed my dream. Now, I am living it.

The following is the transcript of the ASF Weekly Science Podcast episode titled, “Can IGF-1 treat autism symptoms? A clinical trial aims to find out,” published on September 10, 2018. If you would like to learn more about the Mount Sinai clinical trial led by Dr. Alex Kolevzon, please go here.

Mahir Rahman (MR): Hello, everyone, this is Mahir Rahman. Welcome to the Autism Science Foundation Weekly Science Podcast. I’m subbing in for Alycia for an interview I conducted with Dr. Alex Kolevzon of Mount Sinai. Hope you enjoy the story.

Faculty members of Dr. Kolevzon's lab at the Seaver Autism Center

Faculty members of Dr. Kolevzon’s lab at the Seaver Autism Center (left to right): Danielle Halpern, PsyD; Jennifer Foss-Feig, PhD; Paige Siper, PhD; Alex Kolevzon, MD; Pilar Trelles, MD; Michelle Gorenstein, PsyD

MR: A Mount Sinai research team led by Dr. Alex Kolevzon is investigating if a compound known as insulin-like growth factor 1, also known as IGF-1, can be used as a treatment for autism. Dr. Kolevzon is a child psychiatrist and the clinical director of the Seaver Autism Center in the Icahn School of Medicine at Mount Sinai in New York. He received the Autism Science Foundation Treatment Grant in 2013. He sat down with ASF to discuss his current study. We began the interview by discussing the autism-related disorder Phelan-McDermid syndrome, also known as PMS.

Alex Kolevzon (AK): Phelan-McDermid syndrome is a neurodevelopmental disorder that causes autism. It is due to a deletion or mutation of the SHANK3 gene, which is located at the terminal end of chromosome 22. There’s two copies of the SHANK3 gene, we all have two copies of it. And so, in Phelan-McDermid syndrome, you’re basically missing one copy and that’s called haploinsufficiency.

MR: Are you wondering what happens if you miss one copy of the SHANK3 gene? Well, SHANK3 is a gene that codes for a protein that helps brain cells communicate with each other in order to make useful connections during development. When one copy of the SHANK3 gene is missing, certain brain cells cannot communicate with each other, leading to a number of problems.

AK: So based on very large genetic studies, it seems as if Phelan-McDermid syndrome or SHANK3 deletions and mutations account for about 1% of autism, and not everyone with Phelan-McDermid Syndrome has autism, so there’s going to be additional cases beyond that. So really it’s very common. We’re just now starting to routinely diagnose people.

MR: How can some kids with PMS have autism and others not?

AK: Well, autism is a behavioral diagnosis. It’s really just a collection of symptoms, social impairments, language impairments, restricted and repetitive behaviors, and, you know, many different people with autism look very, very different. So some kids have… with Phelan-McDermid syndrome have a lot of social motivations, social interests, social engagements. And despite being significantly cognitively delayed, the social domain is a relative strength for them, and as a result, they don’t really meet the criteria for an autism spectrum disorder. We’re talking about maybe 15% to 20% of them. So the vast majority of people with Phelan-McDermid syndrome do meet the criteria for autism. But it’s important to understand that if you take a given biological cause of a syndrome, the clinical features of that syndrome could be very, very wide.

MR: To reiterate, it’s important to understand that, like autism, the symptoms of PMS can vary. They can vary enough that some children with PMS don’t meet the criteria for an autism diagnosis, but most of the time, they will. That said, the symptoms seen in autism might be based on biology similar to that of PMS.

AK: Within the broader universe of people with autism, and especially people with autism where there isn’t a known cause — what we call idiopathic autism, it seems as those a subset of them appear clinically, and even on some biological measures, look like people with Phelan-McDermid syndrome.

MR: If two conditions have similar biology, the same treatment may be able to help both. The search for a treatment for PMS and idiopathic autism led Dr. Kolevzon’s team to a group of compounds known as growth factors. Growth factors can help cells grow, change, and make new connections, what scientists call plasticity.

AK: A growth factor can promote growth, promote synaptic plasticity, which is what is essentially absent in Phelan-McDermid syndrome. So we started doing this study with a drug called insulin-like growth factor, which we know crosses into the brain, we know it promotes synaptic maturity, synaptic plasticity, nerve cell growth, and we did a couple of small studies, both of which were very, very promising.

MR: In a pilot clinical trial using IGF-1, Dr. Kolevzon’s team found children with PMS tolerated the drug. They also found that the children treated with IGF-1 had reduced expression of two core symptoms of autism – social withdrawal and repetitive behaviors.

AK: We looked at social symptoms and repetitive behavior symptoms because those are core domains of autism. And those are both studied in this trial using a parent-report measure, and we saw improvement in both those domains in the trial with IGF-1.

Dr. Kolevzon's lab during a team meeting.

Dr. Kolevzon’s lab during a team meeting.

MR: Dr. Kolevzon’s team made sure every participant had the opportunity to receive the IGF-1 treatment in the trial by employing a crossover design.

AK: Patients got drugs for 12 weeks, or placebo, and they switched to the other condition, so each patient essentially acted as their own control and treatment was for 12 weeks and placebo was for 12 weeks in random order. We applied the exact same design to the trial in idiopathic autism.

MR: Employing a crossover design was an intentional decision by his team.

AK: One of the biggest obstacles to success in clinical trials is recruitment. One of the biggest obstacles to families wanting to participate is the idea of being on placebo and not getting access to the active treatment. So we purposely designed the trial with everyone getting active treatment.

MR: Based on the findings made by Dr. Kolevzon’s team, IGF-1 appears to be a safe treatment that offers notable improvements in core symptoms of autism, so why is it not considered an effective treatment yet? Dr. Kolevzon hopes to address that question with his current study.

AK: The fear in the field in general is we might be studying an effective medicine but we are not able to show improvement because our measures are not ideal. Either we’re not measuring the right thing, measures aren’t sensitive enough, we’re not able to really account for the placebo effect because they’re so biased. So we’ve been focusing a lot more on more objective, more quantifiable measures, trying to develop new ways of looking at symptoms.

MR: His current study is focusing on sensory reactivity symptoms. Many people with PMS and autism have sensory issues, including varying sensitivity to light and sound and atypical interests in specific textures and temperatures. In order to examine brain activity in general and during periods of sensory reactivity, his lab uses a technique called electroencephalography, or EEG. Dr. Kolevzon’s team will be examining how IGF-1 affects sensory reactivity and brain activity following IGF treatment

AK: That’s really an important symptom, it’s a symptom that’s virtually universal. All kids with Phelan-McDermid syndrome, at least all the kids that we have evaluated, have some sensory reactivity symptoms. Often, they are hyporeactive.

MR: Meaning that these kids often have a decreased response to sensory stimuli. Say a child with sensory hyporeactivity entered a room with very loud speakers. The child might not be bothered by, or let alone react to, the volume. With IGF-1 treatment, Dr. Kolevzon believes his team will be able to observe any change of those sensory reactivity symptoms over the course of the clinical trial.

AK: This is a trial that is pretty burdensome for families because the way that IGF-1 is delivered is through subcutaneous injection. So families are taught to monitor their children’s glucose levels because one of the main side effects can be low blood sugar, and they’re also taught how to inject the children twice a day with small amounts of IGF-1. It’s a very, very small needle and actually, it’s probably the element of the study that people are most concerned about when they first consider it, and it ends up in actually 19 out of 19 cases not to be a really big issue. The children, because they have the sensory hyporeactivity, aren’t especially averse to the shots and the parents become remarkably expert very, very quickly. We give them a big manual with lots of instructions. We show them exactly how big, and in this case, how tiny the needle is, but then, the very first day that they actually get the injection, I give it to them myself.

MR: Dr. Kolevzon and his team understand that they’re asking a lot from the families choosing to participate in the study. They take great strides in order to prepare and help the families throughout the recruitment and trial process.

AK: For me to say things like, “Oh, this is not a big deal,” isn’t helpful. Obviously, this is a big deal, we acknowledge that on the onset, but for me to also encourage them and say, “Look, it’s going to feel scary and then you’re going to be quite good at it.” That’s one thing. I think the other thing is that they don’t feel alone in this, right? They don’t have to make decisions on their own. They don’t have to worry about dosing on their own. You know, if they see anything concerning, they don’t need to decide what to do about that. They have unfettered access to me. We exchange cell phone numbers early on and then, the other thing I say to them is, “You know, if you have any concerns at all, skip the dose. That’s it. You get to control that. If you don’t want to give your child the does for whatever reason, just skip the dose. There will not be any harm in that.” Then, we just take it from there.

MR: For those autism families that are listening, Dr. Kolevzon has a message for you.

AK: “Come participate!” I’d say that if you’re not convinced that a clinical trial is a good idea, that’s okay also. Come just to get to know us. Let us get to know you. And then, you know, we’ll figure it out. Nobody has ever required anybody to participate in a clinical trial. We definitely respect how scary it can be and how hard it can be. So it’s really all about just the fit.

MR: You can learn more about this study on asfpodcast.org. Thanks for listening.

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