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Brain cells, interrupted: How some genes may cause autism, epilepsy and schizophrenia

Jon Hamilton

New research probes the relationship between certain genes and brain disorders like autism and schizophrenia. Jill George / NIH hide caption

New research probes the relationship between certain genes and brain disorders like autism and schizophrenia.

A team of researchers has developed a new way to study how genes may cause autism and other neurodevelopmental disorders: by growing tiny brain-like structures in the lab and tweaking their DNA.

These "assembloids," described in the journal Nature , could one day help researchers develop targeted treatments for autism spectrum disorder, intellectual disability, schizophrenia, and epilepsy.

"This really accelerates our effort to try to understand the biology of psychiatric disorders," says Dr. Sergiu Pașca , a professor of psychiatry and behavioral sciences at Stanford University and an author of the study.

The research suggests that someday "we'll be able to predict which pathways we can target to intervene" and prevent these disorders, adds Kristen Brennand , a professor of psychiatry at Yale who was not involved in the work.

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Researchers link autism to a system that insulates brain wiring.

The study comes after decades of work identifying hundreds of genes that are associated with autism and other neurodevelopmental disorders. But scientists still don't know how problems with these genes alter the brain.

"The challenge now is to figure out what they're actually doing, how disruptions in these genes are actually causing disease," Pașca says. "And that has been really difficult."

For ethical reasons, scientists can't just edit a person's genes to see what happens. They can experiment on animal brains, but lab animals like rodents don't really develop anything that looks like autism or schizophrenia.

So Pașca and a team of scientists tried a different approach, which they detailed in their new paper .

The team did a series of experiments using tiny clumps of human brain cells called brain organoids . These clumps will grow for a year or more in the lab, gradually organizing their cells much the way a developing brain would. And by exposing an organoid to certain growth factors, scientists can coax it into resembling tissue found in brain areas including the cortex and hippocampus.

"We can actually make different parts of the nervous system in a dish from stem cells ," Pașca says. When these parts are placed in the same dish, they will even form connections, much like an actual brain. The resulting structure is called an assembloid .

Pașca's team thought they could use assembloids to study how developmental disorder genes affect special brain cells called interneurons, which are thought to play a role in several psychiatric disorders.

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The first wiring map of an insect's brain hints at incredible complexity.

During pregnancy and the first two years of life, these special cells must complete a remarkable journey.

"Interneurons are born in deep regions of the brain, and then they have to migrate all the way to the cortex," Pașca says. "So you can imagine that during that migration a lot of things could go awry."

Pașca's team simulated the migration of interneurons by creating assembloids containing two types of organoids. One resembled an area deep in the brain called the subpallium, where most interneurons are generated. The other organoid resembled the cerebral cortex, where interneurons are supposed to end up.

"And then we've put them together, allowing these interneurons to move towards the cerebral cortex," he says.

The process worked just the way it's supposed to in assembloids containing typical organoids. So next, the team used a gene-editing technique called CRISPR to alter the organoids.

This approach allowed the team to study the effect of more than 400 genes associated with neurodevelopmental disorders. And they found that 46 of those genes were involved in either the generation of interneurons, or with their migration. Knock out a part of those genes and interneurons no longer arrived where they were supposed to.

In the cerebral cortex, interneurons serve as inhibitory neurons, which means they act a bit like the brake in a car. The interneurons can release a neurotransmitter that tells other neurons to reduce their activity.

Meanwhile, excitatory neurons act as the accelerator, telling other cells to become more active.

Brain networks rely on a delicate balance between excitatory and inhibitory neurons. Too much acceleration and the result can be an epileptic seizure. Too much brake and vital information may get lost or delayed.

Want to understand your adolescent? Get to know their brain

The study is important because it offers a way for scientists to study the effect of many genes at the same time, and identify the ones that affect a particular type of cell or cell function during brain development, says Dr. Guo-li Ming , a professor of neuroscience at the University of Pennsylvania's Perelman School of Medicine.

The research also shows clearly how gene variants could lead to autism or some other neurodevelopmental disorder by disturbing interneurons.

"That would be a disaster" in a developing brain, Ming says. "The circuitry would be wrong and the signaling would be wrong, and ultimately the brain functioning would be wrong."

Ming, who was not connected with study, says her lab would like to use the combination of assembloids and CRISPR in their own research on schizophrenia, another psychiatric disorder with a neurodevelopmental origin.

Pașca's study could help brain scientists make the sort of advances that cancer researchers have in the past few decades, says Brennand.

"Thirty years ago, we might have thought all intestinal cancers should be treated the same way and all lung cancers should be treated the same way," she says. "Now we know a lot better."

Instead of choosing treatments according to the location of a cancer, doctors study a tumor's genes to determine which therapy is most likely to work. A similar approach could eventually help people with autism spectrum disorder, epilepsy, and schizophrenia, Brennand says.

"This improved genetic understanding will let us do better," she says, "because we'll know which pathways we can target to intervene."

• brain disorders
• autism spectrum disorder
• neurobiology
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• schizophrenia
• neuroscience

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• Published: 28 May 2021

Advances in autism research, 2021: continuing to decipher the secrets of autism

• Julio Licinio   ORCID: orcid.org/0000-0001-6905-5884 1 &
• Ma-Li Wong 1  

Molecular Psychiatry volume  26 ,  pages 1426–1428 ( 2021 ) Cite this article

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• Autism spectrum disorders
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We are proud to publish this Special Issue focused on autism, a topic that has been exceedingly important for Molecular Psychiatry since our inception. It is not too bold a statement to say that we were a fundamental contributor to bringing autism to the forefront of the national discourse. A Pubmed search reveals 403 articles published in Molecular Psychiatry since our founding in 1996. Our first autism article by Vincent et al., published in July 1996, examined the fragile X syndrome gene (FMR1) for mutations in autistic individuals, using single-stranded conformational polymorphism analysis; those authors identified three new FMR1 polymorphisms and identified specific and significant association findings with autism [ 1 ].

In late 2001–early 2002 we received four exciting papers with findings on the genetics of autism that were published together in our March 2002 issue, with an accompanying editorial [ 2 , 3 , 4 , 5 , 6 ]. We issued then a press release that was picked up by Time magazine and served as the basis for their unprecedented May 6, 2002 cover story on autism, featuring as that iconic magazine’s cover a young boy who was visibly autistic [ 7 ]. That was the first time that a person with autism was the cover of a national magazine. The magazine’s cover displayed in big yellow letters “Inside the world of autism” and it had a subtitle stating “More than one million Americans may have it, and the number of new cases is exploding. What scientists have discovered. What families should know.” The full story, by Nash [ 8 ], was entitled: “The Secrets of Autism,” with the following subtitle: “The number of children diagnosed with autism and Asperger’s in the U.S. is exploding. Why?” Time ’s cover article was so successful that their editors expanded that from a single issue into an entire series on autism over multiple issues. That Time series effectively made autism emerge as a mainstream topic of kitchen table conversations across America. As that effort was triggered by our press release and four articles on autism, it is reasonable to boast that Molecular Psychiatry launched the national conversation on autism.

The four papers highlighted in our March 2002 issue were within the first 20 articles that we published on this topic. Now, 383 papers later, we have a much more substantial body of work that further unravels the secrets of autism, the culmination of which is this autism Special Issue, with 26 truly superb papers on autism [ 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 ]. These extraordinary articles cover essentially all aspects of this disorder, from the training of specialists, to the interface with other disorders, such as polycystic ovarian syndrome and Alzheimer’s disease, and in-depth analyses of genetics, structural and functional imaging, as well as neuroscience, including postmortem brain studies, transcriptome of induced pluripotent stem cell models, assessments of the role of vitamin D, and studies highlighting the contributions of inflammatory mediators to autism.

We have had for over three decades a particular interest on the interface of immune mediators and psychiatric disorders [ 35 ]. It is very rewarding to see the interface of immune mediators and psychiatry evolve from a hypothesis, that we and others explored decades ago, into a broad and established area within psychiatric neuroscience. As we have developed a new model of analysis of the simultaneous contributions of multiple genes and environmental factors to a psychiatric phenotype [ 36 ], were also encouraged to see studies looking at the polygenic risk for autism in the context of childhood trauma, life-time self-harm, and suicidal behavior and ideation [ 30 ], as well in comparison to several other psychiatric disorders [ 32 ].

One paper in this issue, by Frye et al., is highly usual, and particularly intriguing: it investigates the role of the mitochondrion, in the influence of prenatal air pollution exposure on neurodevelopment and behavior in 96 children with autism spectrum disorder [ 22 ]. Second and third trimester average and maximal daily exposure to fine air particulate matter of diameter ≤2.5 µm (PM 2.5 ) was obtained from the Environmental Protection Agency’s Air Quality System. Mediation analysis found that mitochondrial respiration linked to energy production accounted for 25% and 10% of the effect of average prenatal PM 2.5 exposure on neurodevelopment and behavioral symptoms, respectively. Those results suggest that prenatal exposure to PM 2.5 disrupts neurodevelopment and behavior through complex mechanisms, including long-term changes in mitochondrial respiration and that patterns of early development need to be considered when studying the influence of environmental agents on neurodevelopmental outcomes.

We are honored to have initiated the national conversation on autism twenty years ago and we believe that the 403 autism papers published to date in Molecular Psychiatry , including, but not limited to those highlighted in this Special Issue, report major advances in a key area of molecular psychiatry. It is particularly rewarding to see that these articles cover the full spectrum of research translation [ 37 ], from molecules to society.

In future issues, Molecular Psychiatry will continue to publish outstanding advances in autism research.

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Licinio, J., Wong, ML. Advances in autism research, 2021: continuing to decipher the secrets of autism. Mol Psychiatry 26 , 1426–1428 (2021). https://doi.org/10.1038/s41380-021-01168-0

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Scientists reveal two paths to autism in the developing brain

Two distinct neurodevelopmental abnormalities that arise just weeks after the start of brain development have been associated with the emergence of autism spectrum disorder, according to a new Yale-led study in which researchers developed brain organoids from the stem cells of boys diagnosed with the disorder.

And, researchers say, the specific abnormalities seem to be dictated by the size of the child's brain, a finding that could help doctors and researchers to diagnosis and treat autism in the future.

The findings were published Aug. 10 in the journal Nature Neuroscience.

"It's amazing that children with the same symptoms end up with two distinct forms of altered neural networks," said Dr. Flora Vaccarino, the Harris Professor in the Child Study Center at Yale School of Medicine and co-senior author of the paper.

Using stem cells collected from 13 boys diagnosed with autism -- including eight boys with macrocephaly, a condition in which the head is enlarged -- a Yale team created brain organoids (small, three-dimensional replicas of the developing brain) in a lab dish that mimic neuronal growth in the fetus. They then compared brain development of these affected children with their fathers. (Patients were recruited from clinician colleagues at the Yale Child Study Center, which conducts research, service, and training to improve understanding of health issues facing children and their families.)

The study was co-led by Alexandre Jourdon, Feinan Wu, and Jessica Mariani, all from Vaccarino's lab at the Yale School of Medicine.

About 20% of autism cases involve individuals with macrocephaly, a condition in which a child's head size is in the 90 th percentile or greater at birth. Among autism cases these tend to be more severe.

Intriguingly, the researchers found that children with autism and macrocephaly exhibited excessive growth of excitatory neurons compared with their fathers while organoids of other children with autism showed a deficit of the same type of neurons.

The ability to track the growth of specific types of neurons could help doctors diagnose autism, symptoms of which generally appear 18 to 24 months after birth, the authors say.

The findings may also help identify autism cases that might benefit from existing drugs designed to ameliorate symptoms of disorders marked by excessive excitatory neuron activity, such as epilepsy, Vaccarino said. Autism patients with macrocephaly might benefit from such drugs while those without enlarged brains may not, she said.

Creating biobanks of patient-derived stem cells could be essential to tailor therapeutics to specific individuals, or personalized medicine.

Abyzov Alexej, an associate professor of biomedical informatics at the Mayo Clinic, is co-senior author of the paper.

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Materials provided by Yale University . Original written by Bill Hathaway. Note: Content may be edited for style and length.

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• Alexandre Jourdon, Feinan Wu, Jessica Mariani, Davide Capauto, Scott Norton, Livia Tomasini, Anahita Amiri, Milovan Suvakov, Jeremy D. Schreiner, Yeongjun Jang, Arijit Panda, Cindy Khanh Nguyen, Elise M. Cummings, Gloria Han, Kelly Powell, Anna Szekely, James C. McPartland, Kevin Pelphrey, Katarzyna Chawarska, Pamela Ventola, Alexej Abyzov, Flora M. Vaccarino. Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis . Nature Neuroscience , 2023; DOI: 10.1038/s41593-023-01399-0

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New Research May Change How We Think About the Autism Spectrum

Insar keynote suggests brain differences correlate with cognition—not diagnosis..

Posted May 16, 2022 | Reviewed by Davia Sills

• What Is Autism?
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• Dr. Evdokia Anagnostou presented the results of neuroimaging studies at the International Society for Autism Research 2022 annual meeting.
• Of note, brain differences clustered along dimensions of cognition and hyperactivity, not diagnosis.
• These findings suggest we need to reconsider how we classify neurodivergence.

University of Toronto child neurologist Evdokia Anagnostou dropped a bombshell in her keynote Saturday at the annual meeting of the International Society of Autism Research (INSAR) in Austin, Texas, which may call into question the validity of the autism spectrum disorder (ASD) diagnosis.

What Brain Scans Tell Us About Autism Spectrum Disorder

Anagnostou and her colleagues had set out to use neuroimaging to identify brain differences unique to ASD, as compared to other neurodevelopmental differences like ADHD , OCD , and intellectual disability. And they did find that brain differences clustered into different groups—but not by diagnosis. In fact, brain scans could not distinguish children who had been diagnosed with ASD from those who had been diagnosed with ADHD or OCD.

“Dr. Anagnostou reported data from multiple papers that looked at over 3,500 children,” Dr. Alycia Halladay, Chief Science Officer at the Autism Science Foundation, explained to me. “These studies looked at multiple structural and functional features of the brain—including cortical gyrification (the way the brain folds in the cortex), connectivity of different brain regions, and the thickness of the cortical area—and found no differences based on diagnosis.”

Groupings did emerge, but they were along totally different axes. Added Halladay, “The brains themselves were more similar based on cognitive ability, hyperactivity, and adaptive behavior.” In other words, the brains of mildly affected autistic children looked much more like the brains of kids with ADHD than they did like those of severely autistic children.

Validity of the Autism Spectrum Diagnosis May Be at Stake

If replicated, these findings could have tremendous implications for our current diagnostic framework. During the question and answer period following her talk, Anagnostou described two children who both carried the diagnosis of autism; one was very mildly affected, while the other had such disordered behavior that “even their bus driver knows” he is autistic. “Should these kids have the same diagnosis?” she asked.

Right now, they do—but there has been a growing dissatisfaction among many stakeholders in the autism community with the American Psychiatric Association’s introduction of the all-encompassing ASD diagnosis in the 2013 revision of the Diagnostic and Statistical Manual (DSM-5) to replace more narrowly defined categories, including Asperger syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS), and childhood disintegrative disorder.

In 2021, the Lancet Commission —a group of 32 researchers, clinicians, autistic individuals, and family members—called for the creation of a new label, “profound autism,” that would carve out those autistic individuals who also suffer from cognitive and language impairments and require round-the-clock supervision. “Anagnostou’s data converge nicely with the Lancet Commission’s proposal,” Halladay observed. “They provide biological evidence for a category that was originally defined solely by external criteria.”

At the very least. The real question is whether this work demands an even more radical re-imagining of our classification of neurodevelopmental differences. If, as Anagnostou’s data demonstrates, cognition and hyperactivity are much more correlated with brain difference than variables like social deficit that have been considered core symptoms of autism, then perhaps it’s time to scrap our current model and introduce new diagnoses based on these more salient dimensions. Aligning our diagnostic system with underlying biology is the first step in the development of targeted interventions for some of the most intractable and dangerous behaviors exhibited by the developmentally disabled, such as aggression , elopement, self-injury , and pica (the compulsion to eat inedible objects).

As Anagnostou opened her talk, “Nature doesn’t read the DSM.” But, as our understanding of the brain advances, shouldn’t the DSM reflect these divisions in nature?

Amy S.F. Lutz, Ph.D. , is a historian of medicine at the University of Pennsylvania. She is the author of We Walk: Life with Severe Autism (2020) and Each Day I Like It Better: Autism, ECT, and the Treatment of Our Most Impaired Children (2014) . She is also the Vice-President of the National Council on Severe Autism (NCSA).

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December 5, 2023

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What we know about autism—and how to treat it—could change after new UCSF study

by Jason Fagone, San Francisco Chronicle

By fusing the power of artificial intelligence with new molecular techniques that also seem ripped from science fiction, researchers at UCSF have mapped the microscopic world of autism spectrum disorder in unprecedented detail, pointing toward possible therapies for a subset of patients who have specific genetic mutations, according to a new study.

"This opens up kind of a Goldilocks of potential treatment targets," said one of the study's authors, Matthew State, a UCSF child psychiatrist and geneticist. "It's an opportunity for shots on goal that we just have not had before, because of the complexity of autism."

The results are novel for a few reasons, researchers said. It's the first time that the cellular workings of a neuropsychiatric disorder like ASD have been explored this deeply, opening a door for similar investigations of other neuropsychiatric disorders such as attention deficit hyperactivity disorder and schizophrenia.

The study also combined a basket of new technologies in an original way. Those technologies include stem cells, CRISPR-based genetic tools and AlphaFold 2, the Google AI that predicts the behavior of proteins.

In addition, researchers leveraged a system originally developed at UCSF to study viruses, including the pandemic-causing coronavirus. That platform is able to create comprehensive maps of the interactions between proteins, the biological machines produced by genes that carry out work in the cell.

"We've been at the bleeding edge of putting all this together," said another study leader, Nevan Krogan, director of the Quantitative Biosciences Institute within UCSF's School of Pharmacy, which coordinated the research along with the Department of Psychiatry and Behavioral Sciences.

The paper was posted Monday on bioRxiv.org , a preprint server, and will be submitted to a peer-reviewed journal. UCSF's Jeremy Willsey and Tomasz Nowakowski co-led the work, and Rezo Therapeutics, a biotech company founded by QBI and Krogan, also contributed.

Over the last decade, scientists including State have discovered over 100 mutated genes that are connected to autism. But translating that knowledge into therapies has been difficult, State said. The brain is intricate, and just knowing the right genes isn't enough.

The UCSF-led team took a new approach, focusing on the proteins manufactured by those genes and mapping how they interact with each other.

Researchers found 1,000 proteins and more than 1,800 interactions. About 90% of the interactions "are things we've never seen before," State said.

The team then looked for clues about how the mutations lead to the disorder by using specific mutations from a subset of ASD patients. The scientists exploited AlphaFold's predictive abilities and various molecular techniques to pinpoint the most meaningful interactions, studying how those proteins function in human cells and in "brain organoids" grown from stem cells .

These findings could one day lead to new drugs for patients, State and Krogan said.

"We're shining a brand-new light on autism," Krogan said.

(c)2023 the San Francisco Chronicle Distributed by Tribune Content Agency, LLC.

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A new understanding: how research into autism is evolving

With an emphasis on working with autistic people to design interventions, pathways are opening up through social communication therapy and drug trials

K irsty Orton didn’t mind whether her baby was autistic or not – she just wanted her 12-month-old to enjoy being with his mummy: to notice her when she came into the room. To meet her eye when she talked to him and to be able to communicate.

“All I wanted to do was be able to connect and bond with Fynn,” she said. “But when your baby looks everywhere else in the room except at you and stays in their own zone, like you’re completely unimportant to them, it’s upsetting in a way that I struggle to put into words.”

Orton reiterates that it wasn’t about not accepting the autism that runs in her family. “I was fine with that,”’ she said. “But Fynn’s lack of communication wasn’t safe for a child and would be even less safe as he grew up: you need to be able to communicate if there’s something you don’t like.”

Orton, who lives in Kent, turned to the internet and discovered the first experimental trial of a targeted social communication therapy programme for babies as young as 10 months old with an increased chance of developing autism.

The pilot therapy – still in its infancy – aims to support and maximise the babies’ communication and brain function by focusing on the one-to-one social interaction they receive in their first year with parents or carers. It hopes to change later behaviour too, as the child ages.

Led by Prof Jonathan Green and his colleagues, and based on work funded by the Medical Research Council, the charity Autistica and the national autism team at NHS England, the project claims to improve the developmental trajectory of babies. Autistic children will still have developmental differences but will be more easily social and able to engage.

“This is going to change our concept of what autism is,” said Green, a professor of child and adolescent psychiatry at the University of Manchester. “It will redirect our attention away from an idea of intrinsic social impairments and get us into a deeper level of what autism is really about.”

Autism research has transformed in the last two to three decades. Gone are the offensive and misguided attempts to “cure” the condition – the depersonalised, medicalised approaches that treated autistic people as objects in need of treatment.

Gone too is the discredited and controversial approach of teaching autistic children to hide their autistic identities using behavioural techniques.

Green said: “Treatment, as it was traditionally given, focused on removing autistic behaviour and came to be felt by many autistic people to be an assault on their identity. A focus on genetic ‘cures’ led to concerns that the aim was to remove autism from the world.”

But despite the evolution of research into autism, there is still so much we don’t understand about the condition that continuing work is crucial.

We don’t understand, for example, how its many genetic and environmental influences give rise to so many different presentations. And importantly, despite the condition’s impact and prevalence, and the fact autistic people do not always respond to conventional treatments for mental health difficulties or may experience unacceptable side effects, there are still no specifically tailored medications.

Research is now striving to address those issues, and many others. But it is doing so by using a participatory approach: engaging with the autistic community and co-designing interventions focused on developing an empathic understanding of the autistic experience. Researchers then take that understanding and use it to devise environmental adjustments to help autistic people flourish.

Green’s therapy aims to modify aspects of the infant’s environment by helping parents understand their child’s communication style and adapt their own responses to it. Families who have taken part in his project talk of vastly improved outcomes for their children, deeper connections and transformed relationships.

He said: “What we’ve shown is that children whose parents have gone through our process are still autistic but are better adapted and happier individuals.

“We have proved that our early interventions, both iBasis and the version for older children, called Pact, change a child’s autistic profile in a way which suggests a whole range of autistic expressions – not making eye contact, repetitive behaviours, not communicating and so on – can often be seen as secondary products of environmental experience rather than necessary parts of the autism itself.

“It’s such a success that I would dearly like to see it proposed as a new model for early-years autism services nationwide.”

Green’s is far from the only project working hard to make a fundamental difference to autistic people’s life experience. Declan Murphy is leading the National Autism Project, the largest autism research network in the world. Funded by the EU and conducted across 14 countries with 48 partners, he hopes to have results as early as May 2025.

Murphy, from King’s College London, is exploring drugs to modify the brain signals in autistic individuals to, he said, modify the differences between them and neurotypicals. “This is not a cure – we don’t think like that any more,” he said.

What the drugs do is modify sensory processing, for example visual, thereby improving symptoms for issues that can cause many autistic people distress, including sensory sensitivity and irritability.

The exciting thing about Murphy’s research, part funded by the National Institute for Health Research Maudsley Biomedical Research Centre, is that he is using drugs that already have regulatory approval and are commonly used for other conditions, so if his study results are a success, the treatments could be introduced immediately.

Murphy said: “At the moment it looks like 30% to 40% of individuals have a significant brain response to this drug. If that translates into a clinical trial outcome then this could have massive implications for the lives of one-third of all autistic people, reducing pressure on services by the same proportion.”

Dr Grainne McAlonan, a clinical professor of translational neuroscience at the department of forensic and neurodevelopmental sciences and Institute of Psychiatry, Psychology and Neuroscience at King’s College London, has just started investigating a psychedelic compound – psilocybin – found in magic mushrooms .

She is looking at the serotonin pathway, which plays a key role in a range of essential functions such as sensory processing, cognition, mood and sleep. One of the most consistent findings in autism research are differences in the serotonin pathway: more than 25% of autistic people have high blood serotonin levels.

If McAlonan identifies individual differences in the brain serotonin system targeted by psilocybin, the next step will be to ask whether they can establish if there is a biological response to the drug that might be clinically useful. “Ultimately, this research may allow us to provide more personalised choices for those autistic people who want the option of a medication for their difficulties,” she said.

This was an exciting time for autism research, said Matthew Swindells, an evidence, research and evaluation manager at the National Autistic Society.

He points to other research that addresses real-life issues, including the Bridging Project led by the University of Plymouth, which uses virtual reality to reduce the autism employment gap; autism in affinity spaces , led by Queen Mary University London, which explores how young autistic people use social media platforms to engage in their interests; and Audit 50 , led by University College London, which focuses on the experiences of older autistic people, an often overlooked population.

Swindells said: “Perhaps, most importantly, researchers have moved away from stigmatising, deficit-based language and approaches. Instead, it has started to focus on the topics that really matter to autistic people. This can be seen with the emergence of more autistic lead researchers, as well as some brilliant examples of participatory approaches within research practice.”

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Autism Research in 2022

Written by staff and the SAB of the Autism Science Foundation

COVID Recovery Was Slow, But Scientific Progress Continues

After two grueling pandemic years, 2022 saw a return to quasi-normalcy in both the world at large and in the world of autism research. Although the pandemic was incredibly challenging for autism families and researchers, the pivot to telehealth led to advances in online autism diagnoses, mental health supports, and interventions that will likely benefit autistic people across the globe for years to come.

Autism scientists working in diverse areas of research made important strides this year and continued to gain valuable insights into every facet of autism. They also identified more effective ways to support people on the spectrum. Researchers developed a better understanding of the unique needs and priorities of specific groups of autistic people , better-defined links between biological mechanisms and behavior , and disparities in autism diagnosis and treatment.

This work was only possible because of families like yours: You actively participated in important research studies. You agreed to have your data shared with others. You donated. You advocated. Your U.S. tax dollars supported $100 million of NIH grants funded in 2022 . 

Autism science simply cannot progress without your continued partnership. Earlier this year, ASF launched a “ Participate in Research ” directory to match families with research studies that meet your needs and interests. Many of these studies offer compensation, and can also provide valuable information and resources to aid your family member. The goal is to use the information gleaned from research to improve the real lives of real people, both now and in the future.

Here’s a little bit of what 2022 taught us.

Early identification leads to earlier diagnosis, but diagnosis happens at all ages

• Developmental milestones are skills that most children reach at a certain age and are used by healthcare providers to track progress. This year, the CDC updated these milestones to track what 75% of children can do by certain ages, rather than 50%, causing some pushback. In addition, the CDC added new time points as well as markers that might predict an autism diagnosis. 1
• In autism, reaching developmental milestones can be delayed from months to years. Delays are often more severe and variable in those with co-occurring intellectual disability and a rare genetic variant. New research reinforced the need to focus on milestones and the importance of early intervention.: If you notice your infant is struggling with new skills, tell your healthcare provider. 2
• Language skills in infants are an important predictor of an ASD diagnosis. Recent work from the ASF-supported Baby Siblings Research Consortium (BSRC) showed that maternal education levels and early gestures are important predictors of these language skills, suggesting markers for intervention. 3
• Researchers have suggested that early behaviors that are predictive of a later diagnosis may be part of a larger “developmental cascade,” where, for example, the trajectory from laying to sitting to language may be disrupted. These are intertwined behavioral and neurobiological networks that affect how a person with autism functions. 4
• There are now multiple biomarkers under investigation. Some are better than others at not just autism diagnosis, but the response to intervention. 5 In the future, they can be used to promote earlier diagnosis and more objective measures of the effectiveness of interventions.

Key takeaways: Parents and clinicians should monitor developmental milestones early in life. Early signs are not a substitute for a diagnosis, but some supports and interventions can be provided that allow for an improvement of trajectories across the lifespan.

Parent-mediated interventions and training – they work.

• A review of 30 studies showed promising results from parent-mediated interventions, but improvements in studies are still needed. 6
• Parent-mediated interventions can be used for teaching everything from core autism symptoms to self-care like tooth brushing. 7
• Autism interventions can and should be customized to culture and race. 8,9
• Some parent-mediated interventions have been tested successfully in a hybrid format, leading the way for others to investigate their effect on parent and child outcomes. 10
• While some have suggested parents only recognize the weaknesses in their children, recent research strongly notes that parents know their child’s strengths and use those strengths to help support their family.  Educators also note these strengths in the classroom. 11,12
• Siblings play an important role in the outcome of autistic individuals, while they also experience unique challenges themselves. 13,14

Key takeaways: Parents and caregivers often feel helpless when they are concerned about their child’s development and are facing long waiting lists for services. New research shows that providing support is beneficial for both the parents and the child outcome, and elevates strengths while mitigating support challenges. Further research should continue to explore the role of sibling relationships and support.

The brain has a distinct “signature” and sensory issues are on the front line

• One type of immune cell of the brain called the microglia has been known to affect cell communication, shape, and number. Researchers have now determined when and where these cells are expressed during development, laying the foundation for research into a critical brain cell type. 17
• The greatest differences in gene expression in the brain are in sensory areas like the visual cortex. 15 This may explain the almost universal problems in sensory processing that autistic individuals experience, and why sensory problems are so common in ASD. 18
• The visual area, specifically the occipital cortex, was also enlarged at young ages, more so in kids who have siblings with a diagnosis, demonstrating that genetic heritability plays a role in brain activity involved in sensory processing in families. 19
• A new marker of sensory processing was detected: differences in the activity of a neurotransmitter called GABA. GABA commonly slows down the activity of brain cells, which is important when they are too active, indicating this neurotransmitter is critical for sensory processing. Changing the activity of GABA neurons can alleviate sensory problems in autistic individuals. 20
• In addition, changes in the thickness of different cortical regions may influence sensory responses, depending on whether there is overstimulation or understimulation. 21
• Another brain region called the amygdala may relate to anxiety in autistic people. Certain areas of the amygdala are different in size, 22 and can explain variability in anxiety. 23   There is also disruption in connectivity from the amygdala to outside regions, 24 which may also explain how anxiety interacts with autism features.
• Rather than examining one autism feature at a time, it seems that ability to make gains or show potential for change over time is correlated to differences in brain structure. Markers of change over time are also linked to genes associated with ASD. 25 Targets of intervention based on biological markers may need to focus on sensitivity to change rather than a specific number on an instrument per se.
• The use of biological tools has increased this year. These tools include induced pluripotent stem cells (IPSCs) and organoids that are based on cells from individuals with different forms of ASD. Studies have looked at different types of autism (idiopathic and genetically-based) and identified creation of new brain cells as a common biological mechanism. 26 New studies also used novel tools to improve the validity of these cell-based systems. 27
• Animal models can be used to identify mechanisms by which genes and environmental factors exert their influence over behavior. Right now, there are hundreds of animal models of ASD, but not all of them are used appropriately to understand ASD. The ability of the model to recapitulate both the biology and behavior involved in ASD is essential. 28

Key takeaways: While different brain regions are specialized in their function, they interconnect and turn on and off in synchrony. Researchers need better models of human neurobiology, including better animal models, to understand the core and associated autism features, from sensory dysfunction to GI issues. If you want to learn more about research involving the brains of people with autism, sign up for more information at Autism BrainNet .

Genetic markers start to explain phenotype.

• The presence of rare genetic variants and common variants tend to funnel people into groups defined by intellectual disability (ID) or high educational attainment. 29,30 Scientists have identified and characterized two major types of genetic variation associated with ASD. Rare genetic variants are commonly associated with lower cognitive function and profound autism, but that is not always the case. 31  Even with hundreds of thousands of samples, scientists have still not found a direct gene – outcome linkage.  However, genetics are still important.  Genetic findings can help identify specific needs leading to appropriate supports.
• Certain types of gene mutations can explain associations with features like psychosis, 32 as well as obesity and depression. 33
• Five new variants were identified that are not linked to intellectual or developmental disability (IDD), but are linked to other neuropsychiatric issues besides ASD. 31,34 Therefore, rare ASD or DD gene mutations usually lead to some sort of deleterious outcome.
• There is a significant overlap between ASD genes and genes associated with developmental disorders in general. Researchers suggest that autism specificity may be the result of when the gene is expressed. For example, in developmental disorders, genes are expressed in progenitor cells while in ASD they may be expressed in developing neurons. 35  
• Other studies have not found any ASD-specific gene, they show linkage to neurodevelopmental problems in general, and can be grouped based on what cells are affected. 35
• There are shared pathways between ASD and other neuropsychiatric disorders. 36  
• Studies have shown linkages between epilepsy, ASD and ADHD. 37

Key takeaways: Genetic markers associated with ASD are also associated with other developmental conditions like ADHD and intellectual disability, as well as comorbid conditions like obesity. Two major types of genetic markers, rare and common variations, may represent biomarkers of two different phenotypes, but there is overlap, and rare and common variants are likely mixed in most people. Genetic research is important for a better understanding of ASD and the development of individualized approaches for supports.

But genetics doesn’t tell it all.

• Parental genetics and environmental factors are intertwined on a biological level. Genes associated with depression in parents are also linked to ASD. 38
• Maternal immune infections are an established risk factor for ASD. However, the genetics of children with and without maternal immune challenges during pregnancy are different. 39
• Studies in Norway offer a unique perspective of gestational exposures by banking blood taken mid-pregnancy during usual obstetrical visits. One study has shown that certain cytokines, or markers of immune activity, are elevated during pregnancy in both boys and girls with autism, particularly in girls. It’s unclear what role these cytokines play collectively or individually, or where they came from in the first place. 40
• Where you live can affect the role of genes vs. environment, evidenced by environmental factors playing a bigger role in heritability in certain areas of Sweden and the U.K. 41
• Genetics and the environment clearly interact when it comes to the influence of an ASD diagnosis. For example, pesticide exposure exacerbated the effects of the autism CHD8 gene on rodent behavior. 42
• The role of environmental factors may depend not just on a diagnosis but on specific autism traits. 43
• Given that autism is likely part of a larger developmental disorder spectrum, regulation of toxic chemicals which are harmful to development must be expanded. 44

Key takeaways: The role of environmental factors in ASD has often been disassociated with genetics when it should be integrated into the understanding of autism’s causes, behavioral features, and interventions.

Biological sex plays a role.

• Studies replicated this year showed that females with autism have a higher burden of rare genetic mutations. In addition, research is demonstrating that females with an autism diagnosis also show a higher level of “common” variations. 29,45
• The effect of higher levels of common variation in females extends to even undiagnosed members of ASD-impacted families, demonstrating that females carrying ASD genetic variation are resilient. 45
• The two above studies implicate an important role of the female protective effect but do not explain all of the differences in diagnosis. 46
• Some scientists have wondered if biases in instruments used to inform a diagnosis play a role in the sex difference. One study used a mathematical algorithm to eliminate the difference in M:F diagnostic differences, but still, females show different behavioral profiles. This further reiterates that instruments should be used to inform, not make a diagnosis, and that autism is more than a yes or no diagnosis. 47
• Clinicians may miss an autism diagnosis in females because of camouflage. Females are also more likely to camouflage, which means they (consciously or unconsciously) pretend to fit in as a typically-developing girl. This leads to lower quality of life. 48
•  Intellectual disability plays a bigger role in autism features in girls vs. boys. 49
•  New genetic mutations involving the X chromosome were identified – and these mutations are more likely to occur in females. 35
• Sex differences in brain region size can be attributed to gene expression patterns. In other words, brain differences in males and females with ASD are due, in part, to underlying genetics. 50

Key takeaways: Females with ASD show different biological and behavioral profiles and are understudied in research and underserved in the community. Future research should aim to include more females to better understand their unique needs and provide targeted support.

It’s still not over, but families are in a better place than a year ago.

• Despite a rocky start at the height of the pandemic in 2020 and 2021, opportunities to receive autism diagnoses, mental health supports, and interventions via telehealth have been improved, and polished, and are not only acceptable to families and clinicians but are effective. 51-57
• Families and clinicians were happier with remote diagnosis and evaluation when the diagnosis was clear; in cases where there was some ambiguity, it caused frustration. 58,59
• While many families and individuals experienced a mental health decline during the pandemic, some exhibited resiliency under social distancing guidelines. 60 The differences could be due to the degree to which services were lost, coping styles, and pre-existing mental health attributes. 61

Key takeaways: Autism families suffered during the pandemic, but it also allowed for new approaches to be developed that may ultimately improve practice – including hybrid clinical services, holistic family support, and more comprehensive diagnostic practices.

It’s not all about the asd.

• Individuals with ASD experience higher levels of anxiety, GI issues, epilepsy, and other developmental disorders like ADHD compared to those without a diagnosis.
• While not a core autism symptom, anxiety is linked to insistence on sameness in toddlers with ASD, which indicates a similar underlying mechanism. 62
• Gastrointestinal issues plague people with autism, and there are few options for treatment. The gastrointestinal microbiome has been a target for intervention for autism symptoms, although studies are still ongoing. 63 GI issues were the focus of a major NIH-funded meeting this year .
• Suicide risk is higher in ASD. 64
• Sleep problems, while mostly studied in children, are now shown to follow kids into adolescence and adulthood. 65
• There is a high degree of overlap in the brain activity profiles between ADHD and ASD kids. Differences are mostly seen when symptom severity is accounted for. ADHD and ASD show more similarities in the brain than differences. 66
• Behavioral profiles between ADHD and ASD are also similar. 67
• Mental health concerns are present in adolescents and adults with ASD with cognitive inflexibility strongly linked to compromised mental health. 68,69 Cognitive inflexibility, which is different than cognitive ability, is how someone shifts their attention from one thing to another based on what is going on around them. This may be a focus for future mental health interventions.
• Unfortunately there are no strong individual-level predictors in childhood of mental health issues in adults, but some factors that may lead to better mental health are better living skills and higher IQ. 70

Key takeaways: Outside the core features of autism listed in the DSM5, individuals experience a wide range of associated features, ranging from psychiatric issues to medical comorbidities. For many individuals, these associated features are highly debilitating.

Biases in underserved communities are getting more attention.

• A recent analysis showed a reduction of the disparities in the age of ASD diagnosis for Black and Hispanic children over the last four years, but a difference still exists. 71
• This is likely due to provider bias, but not necessarily diagnostic instrument biases. The standard diagnostic tools are not biased toward race or sex. 72
•  Lessons learned from the pandemic reiterate the need for intense community engagement, flexibility, and an understanding that a holistic approach – rather than one focused on ASD – is necessary for working with underserved communities 73,74 .
• A culturally-adapted parent training program delivered by Black providers was effective in the Black community and could be a model for future engagement efforts. 8
• Only 25% of intervention studies report the ethnic and racial makeup of their participants, 75 indicating that researchers need to do a better job of deliberately including racial and ethnic minorities, recruiting them as research leads and coordinators, and including them on boards for scientific review. 76
• Low socioeconomic status contributes to social and communication deficits in young children with ASD. 77

Key takeaways: Racial and ethnic biases are still pervasive in autism research and diagnosis, and we need a holistic approach to support families in all aspects of their lives beyond just autism symptoms. Scientists must continue to focus on the deliberate inclusion of these groups in both research and career training to better serve all individuals with autism.

On a final note, there has been a lot of debate this year about the language used to describe autism. 78-81 There is a diversity of experiences with autism and likely to be a diversity of perspectives. Families and scientists should use scientifically accurate terms to best describe the wide range of autistic people and their symptoms. 82   What that is may differ from person to person, and situation to situation, which means context and preference need to be considered as well.

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2.         Kuo SS, van der Merwe C, Fu JM, et al. Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis: Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis. JAMA Pediatr 2022; 176 (9): 915-23.

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11.       Mirenda P, Zaidman-Zait A, Cost KT, et al. Educators Describe the “Best Things” About Students with Autism at School. J Autism Dev Disord 2022.

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62.       Baribeau DA, Vigod SN, Pullenayegum E, et al. Developmental cascades between insistence on sameness behaviour and anxiety symptoms in autism spectrum disorder. Eur Child Adolesc Psychiatry 2022.

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Autism Spectrum Disorder in 2023: A Challenge Still Open

Annio posar.

1 IRCCS Istituto delle Scienze Neurologiche di Bologna, UOSI Disturbi dello Spettro Autistico, Bologna, Italy

2 Department of Biomedical and Neuromotor Sciences, Bologna University, Bologna, Italy

Paola Visconti

In this paper, we provide an update on autism spectrum disorder (ASD), including epidemiology, etiopathogenesis, clinical presentation, instrumental investigations, early signs, onset patterns, neuropsychological hypotheses, treatments, and long-term outcome. The prevalence of this condition has increased enormously over the last few decades. This increase prompted a search for possible environmental factors whose effects would add up to a genetic predisposition leading to the development of autism. But the genetic and environmental variables involved are extremely numerous, and conclusive data regarding the etiopathogenesis are still far away. Assuming that a well-defined etiology is still found today only in a minority of cases, numerous pathogenetic mechanisms have been hypothesized. Among these, we mention oxidative stress, mitochondrial dysfunction, alteration of the intestinal microbiota, immune dysregulation, and neuroinflammation. These pathogenetic mechanisms could alter epigenetic status and gene expression, finally leading to ASD. Inherent in the term spectrum is the great clinical heterogeneity of this condition, mainly due to the frequent comorbidity that characterizes it. The earlier the diagnosis is made and the earlier psychoeducational treatment begins, the better the prognosis. In this sense, the role of pediatricians can be decisive in making children with signs suggestive of autism undergo a specialist diagnostic course. The development of increasingly advanced cognitive-behavioral educational techniques has considerably improved the prognosis of affected individuals, even though only a small minority of them come off the autistic spectrum. Pharmacological therapies are used to treat comorbidities. During childhood, the most important prognostic factor for long-term outcome seems to be intellectual functioning.

Introduction

According to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), autism spectrum disorder (ASD) is an early-onset, mostly lifelong condition characterized by persisting deficits in social-communication skills (including social-emotional reciprocity, nonverbal communication, and developing/maintaining relationships) and restricted, repetitive behaviors (including stereotypies, insistence on sameness, highly restricted and fixated interests, and sensory abnormalities). Symptoms are present early in development and cause significant impairments in social and occupational functioning. ASD symptoms are not better explained by intellectual disability or global developmental delay, and this is a very important concept in order to avoid confusing these conditions. However, ASD often co-occurs with intellectual disability; comorbid diagnoses of ASD and intellectual disability are possible only when social communication skills are lower than expected in relation to the general developmental level. According to DSM-5, 3 levels of severity of ASD have been established: level 1 (requiring support), level 2 (requiring substantial support), and level 3 (requiring very substantial support). 1 The choice made in the DSM-5 to cancel the subdivision into the 5 diagnostic categories established by the DSM-IV (autistic disorder, Rett’s disorder, childhood disintegrative disorder, Asperger’s disorder, and pervasive developmental disorder not otherwise specified), 2 unifying everything under the term ASD, 1 has not been without criticism, and it is hoped that it will be corrected in the next edition of the DSM. 3 Despite various attempts to find a biological marker, today, the diagnosis of ASD is still based solely on clinical criteria. 1

From a historical perspective, the first reports of children with autism have been till today attributed by most authors to Leo Kanner (1943) 4 and Hans Asperger (1944), 5 but in reality, the first to describe this condition in a scientific journal was a woman, Grunya Efimovna Sukhareva, who in 1926 reported 6 boys with autism (which today would be defined “high functioning”), providing a lot of clinical details, including sensory abnormalities, 6 , 7 which acquired their proper weight only in the DSM-5’s description of ASD. 1

As concerns ASD etiopathogenesis, while in the past the psychogenetic theories prevailed, today we know that ASD is a condition with a neurobiological basis. The etiology is multifactorial and is characterized by an interaction between genetic and environmental factors. 8

In this narrative review, we aim to provide an update about this condition, considering epidemiology, etiopathogenesis, clinical presentation, instrumental investigations, early signs and onset patterns, neuropsychological hypotheses, treatments, and long-term outcome.

Epidemiology and Etiopathogenesis of Autism Spectrum Disorder

According to the most recent epidemiological studies carried out in the United States, ASD recurs in 1 in 36 children at age 8, and it is about 4 times more frequent among males than females. 9 The prevalence of this condition has increased enormously over the last few decades; This increase would be to some extent apparent as there is now greater awareness of this condition, but it would be largely real. 10 This last aspect prompted a search for possible environmental factors whose effects would add up to a genetic predisposition leading to the development of autism. 8 Indeed, early exposure, in particular during pregnancy and in the first year of extrauterine life, to air pollutants (especially particulate matter with an aerodynamic diameter ≤2.5 μm) 11 or to agricultural pesticides 12 is associated with a higher risk for ASD.

But the genetic and environmental variables involved are extremely numerous, and conclusive data regarding the etiopathogenesis of ASD are still far away. Assuming that a well-defined etiology is still found today only in a minority of cases with ASD, numerous pathogenetic mechanisms have been hypothesized and supported by interesting data. Among these mechanisms, we mention oxidative stress, 13 , 14 mitochondrial dysfunction, 15 alteration of the gut microbiota (see the wide variety of microorganisms colonizing the human gastrointestinal tract), 16 immune dysregulation, 17 and neuroinflammation. 14 Note that these mechanisms are not mutually exclusive but could act in synergy with each other, leading to the development of ASD. 8 In reality, the true meaning of the alterations to these mechanisms has yet to be understood. Let us take the example of the gut microbiota: are the alterations found in subjects with ASD the cause of the disorder or its consequence, taking into account the food selectivity they often display and their propensity to bring inedible objects to their mouths? 18

A key to understanding how these pathogenetic mechanisms could act is given by the concept of epigenetics. Epigenetics is a crucial gene regulation system based on chemical changes in DNA and histone proteins without altering the sequence of DNA. The abovementioned pathogenic mechanisms could alter epigenetic status and gene expression, finally leading to ASD. Also, some environmental factors, including heavy metals (e.g., lead) and endocrine disrupting chemicals (e.g., pesticides), could directly or indirectly modify the epigenetic status. 19 , 20

However, the fact that, according to the most recent studies, the prevalence of ASD in males is confirmed (male-to-female ratio = 3.8) 9 suggests that, in the etiopathogenesis of the disorder, genetics still outweighs acquired factors.

We dedicate a last mention to the so-called syndromic autism. It describes the minority of individuals with ASD who present comorbid features and/or a putative genetic etiology. This concept has been deeply criticized, also because it has no single definition, and is probably destined to fall into disuse. 21 We have preferred not to use it in this review.

Heterogeneity of Autism Spectrum Disorder Clinical Presentation

Inherent in the term “spectrum” is the great clinical heterogeneity of this condition. The range of possible impairments in ASD goes from severe disability with almost complete absence of personal autonomy to a so-called high-functioning condition in which the individual can have normal or even higher-than-normal intellectual functioning and can play a role of responsibility in the social context. 3 The considerable heterogeneity of the ASD clinical picture is mainly due to the frequent comorbidity that characterizes it. Intellectual disability, attention-deficit/hyperactivity disorder (ADHD), insomnia, mood disorders, and epilepsy are just some of the possible neuropsychiatric comorbidities. Also, medical comorbidities, in particular gastroenterological ones (including celiac disease), can complicate the clinical picture of individuals with ASD. 3 , 22

Another element of clinical heterogeneity is given by the possible presence of sensory abnormalities that are very often found in subjects with ASD, especially in the first years of life, leading to a distortion of the perception of reality and representing the possible key to understanding many of their atypical behaviors (e.g., attraction to artificial lights, annoyance for crowded environments, food selectivity) and also of the so-called challenging behaviors (e.g., auto- or hetero-aggressiveness, throwing things, tantrums). 23 An impairment of multimodal integration (i.e., the ability to integrate information coming from different sensory channels: visual, auditory, somatosensory, etc.) has also been implicated. 23 In this regard, functional magnetic resonance imaging studies have highlighted elements that suggest an alteration of brain long-range connectivity in individuals with ASD, 24 which could lead precisely to an impairment of this integration capacity.

Instrumental Investigations in Individuals with Autism Spectrum Disorder

From the point of view of the etiological diagnosis, nowadays it seems essential to carry out the following investigations: hearing evaluation through behavioral audiometry or, if not possible, through an auditory brainstem response (ABR) test; genetic tests (array-based comparative genomic hybridization, or array CGH; in males, molecular search for fragile X syndrome; and in some cases, next generation sequencing); electroencephalogram possibly also during sleep, even in the absence of overt clinical seizures, in particular to rule out electroclinical conditions such as continuous spikes and waves during slow sleep (CSWS), which are potentially treatable with a drug therapy. 25 Common neuroimaging techniques, and in particular brain magnetic resonance imaging, are usually normal or at most show nonspecific findings; 26 therefore, they should be performed only in some cases, including: a clinical history characterized by marked and persisting neurocognitive deterioration; the presence of clear neurological signs (macrocrania or microcrania, cerebral palsy, dystonia, etc.); a genetic condition that notoriously predisposes to a brain malformation; epileptic seizures; an electroencephalogram showing relevant alterations such as focal paroxysmal abnormalities or asymmetries of the electrogenesis. At the conclusion of the etiological workup, genetic counseling is recommendable, even though instrumental investigations have not shown any significant results, aiming also at calculating the risk of recurrence of ASD (or other neurodevelopmental disorders) in the family.

Early Signs and Onset Patterns of Autism Spectrum Disorder

A reasonable diagnostic suspicion of ASD can usually be placed around 18 months of age, while a definitive diagnosis of ASD can commonly be made within 3 years of age. There are several tools for early screening of ASD; one of the most used is still today the Modified Checklist for Autism in Toddlers (M-CHAT). 27 To make the final diagnosis of ASD as objective as possible, standardized assessment tools are used today, such as the Autism Diagnostic Observation Schedule—Second Edition (ADOS-2), 28 and Autism Diagnostic Interview—Revised (ADI-R). 29 In this context, the time factor is very important. 27 The earlier the diagnosis is made and the earlier psychoeducational treatment begins, the better the prognosis. 30 In this sense, the role of pediatricians can be decisive in making children with signs suggestive of ASD undertake a specialist diagnostic course. Nowadays, several ASD screening tests for pediatricians are available, none of which, however, is without setbacks; they represent useful tools but should not be considered the only source of information in order to decide whether to start a diagnostic workup in a center specialized in neurodevelopmental disorders. For this purpose, it is very important to pay attention to all possible warning signs reported by parents as well as to directly observe the behavior of the child. 27 In infants, even before a possible speech delay becomes evident, the most indicative signs of ASD are strictly related to social-communication skills as follows: looking at the faces of others; orienting to name; presence of joint attention (i.e., the ability to share focus with others on 1 object); affect sharing; and imitation. 31 When some of these behaviors are lacking, a specific assessment is mandatory. Further, let us not forget that the core signs of autism are not infrequently preceded by signs of impaired motor development, 32 such as motor delay, mostly slight, 33 hypotonia, 34 walking on tiptoes, and/or clumsiness. 1 Therefore, the presence of an early motor impairment, even if mild, should be included among the first signs that could lead to a timely ASD diagnosis. 32

Several different ASD onset patterns have been reported. The most frequent are the “early-onset” pattern, characterized by social-communication deficits developing in the first year or so, and the “regressive autism”, characterized by an onset of autistic signs in the second year, mostly at 16-20 months, associated with a loss of social-communication skills. Another onset pattern is characterized by mixed features: first delay and later loss of social communication skills. There is also an onset pattern named “developmental plateau”, characterized first by normal social development and/or non-specific abnormalities (involving also feeding or sleep), and later by a lack of new acquisitions on the socio-communicative level. 31

Neuropsychological Hypotheses About Autism Spectrum Disorder

From a neuropsychological point of view, 3 main hypotheses have been developed to explain cognitive dysfunction in individuals with ASD. 35 First, failure of theory of mind refers to the inability to interpret the behaviors of others based on their feelings and beliefs and to identify their intentions and emotions, leading to social communication impairments. 36 , 37 Second, there is the hypothesis of a deficit of executive functions, which are a series of cognitive processes including attention, working memory, inhibitory control, planning, and cognitive flexibility that are crucial for adaptive behavior and social cognition skills. 38 , 39 Third, weak central coherence theory refers to the propension of individuals with ASD to use an information processing style that is excessively detail-oriented, 40 , 41 leading to an impairment of social interactions for which an adequate integration of diverse elements such as voice, mimicry, gestures, and environmental context is necessary. 41 This theory partly overlaps with what was mentioned above regarding the multimodal integration deficit and underlines once again the fact that, although visuospatial skills and attention to detail represent strengths in these subjects, when they have to integrate this type of stimuli with other types of stimuli, they may encounter great difficulty. 35

These 3 theories are not mutually exclusive. Each of them is able to explain a part of the autistic symptomatology, but none is able to give a complete explanation. 35

Treatments for Autism And Longterm Outcome

The development of increasingly advanced cognitive-behavioral educational techniques, of which the best known belong to applied behavior analysis (ABA) therapy, has considerably improved the prognosis of affected individuals. Applied behavior analysis utilizes the principles of psychological learning theory in order to modify the behaviors usually present in subjects with ASD. In the 1970s, Ole Ivar Lovaas developed a method that was based on Burrhus Frederic Skinner’s operant conditioning theory, with the aim of changing behaviors and improving social interactions in children with ASD. During the past 60 years, ABA has changed considerably, evolving into many treatment practices, with the aim of dealing with the problems of individuals with ASD in all functioning domains, such as cognition, social skills, language, daily living skills, and challenging behaviors. 42 Today, only a small minority of these subjects come off the autistic spectrum, but almost all can improve considerably by increasing their level of autonomy. 43 After the diagnosis, psychoeducational and often emotional support are very important for parents. Several other interventions are used extensively around the world for children with ASD, although the evidence for their effectiveness does not match that of ABA. Occupational therapy interventions, in particular those using new technologies such as the computer, have shown positive effects on activities of daily living and social skills. 44 In the contest of occupational therapy, sensory integration interventions, in particular when using the principles proposed by Anna Jean Ayres (e.g., tailoring challenges to assure that they are slightly beyond the current performance level of the child), showed positive effects on participation in daily-life activities and routines. 45 Floortime, a relationship-based therapy, has shown that it can improve communication, emotional functioning, and daily living skills in children with ASD. 46

A pharmacological therapy for the core symptoms of autism does not exist. However, pharmacological therapies are used to treat comorbidities: for example, melatonin or (if not effective) niaprazine for sleep disorders, antiseizure drugs for epilepsy (the choice of drugs depends mainly on the type of epilepsy and possible behavioral undesirable effects), and methylphenidate for ADHD. In addition, drug therapy is used to treat challenging behaviors when cognitive-behavioral interventions have not produced adequate results. In these situations, atypical neuroleptics (e.g., risperidone and aripiprazole) are currently the most commonly often used drugs. Indeed, based on a recent systematic review and meta-analysis of antipsychotic medications in autism, there is some evidence for favorable effects of risperidone and aripiprazole on irritability and agitation in children with ASD. 47 However, we wish to underline that the use of pharmacotherapy should be resorted to only when there is a real need and, if possible, for limited periods of time.

Based on the hypothesis that children with ASD have increased levels of systemic heavy metals interfering with their neurodevelopment and leading to autism, in many of these patients, chelation therapy has been attempted using an agent that binds to the excess heavy metal, causing its excretion. Yet, clinical trials of this therapy in ASD are lacking. Based on literature data, in ASD there is no evidence for the effectiveness of chelation therapy, which is associated with very severe and potentially lethal side effects such as cardiac arrhythmias and hypocalcaemia. 48

Interesting findings are emerging regarding diet therapy. One recent systematic review and meta-analysis suggests that diet therapies (including ketogenic diets, gluten-free diets, and gluten-free and casein-free diets), may have favorable effects even on ASD core symptoms. However, more high-quality clinical trials are needed. 49

During childhood, the most important prognostic factor for long-term outcome seems to be intellectual functioning: the higher the intelligence quotient, the better the long-term evolution. But also, the presence of verbal language (although atypical) within 5-6 years of life appears to be a favorable prognostic factor. 43 Unfortunately, approximately 25%-30% of affected individuals develop very little to no verbal skills; they are called “minimally verbal” and usually show a poor long-term outcome. The severe deficit of communication skills (verbal and nonverbal) is very often the basis of the aforementioned challenging behaviors. Also for this reason, providing early non-speaker individuals with alternative means of communication, such as augmentative and alternative communication, is of paramount importance. 50

Conclusions

For professionals who deal with ASD, it is a frustrating situation to witness the growth in the prevalence of this condition without knowing exactly the reasons and consequently without having the most suitable tools to counter it, despite all the knowledge about the neurobiology of ASD that has accumulated over the last years. Today, however, it seems clear that genetic factors alone are unable to explain this phenomenon that some have called the “autism epidemic.” Therefore, in recent years, growing attention has been paid to the environmental factors that can trigger the mechanisms leading to the development of ASD. For these factors, actions of prevention could be very useful, but they require potentially unpopular political decisions whose possible effectiveness could be evaluated only in the long term. Unfortunately, nowadays we still know too little about environmental factors to undertake fully effective prevention actions.

From the research perspective, perhaps to better understand why a child develops an ASD, it would be interesting to study not only what is possibly missing in him/her (e.g., chromosomal deletion detected by the array CGH) or what malfunctions (e.g., focal paroxysmal abnormalities on the electroencephalogram), but also the existing possible protective factors, for example, in the genetic heritage of typically developing individuals and which would be missing in subjects with ASD. This research approach could provide very useful information in the future, but it would clearly be very complicated to put into practice.

The increasing prevalence of ASD clearly has a very negative impact on the public health service, due to the large human and material resources that must be employed to address the problem on the diagnostic and therapeutic sides. However, it should be clear that what we do for today’s autistic children will inevitably affect tomorrow’s autistic adults. Spending many resources on treatments for individuals with ASD in their developmental age in order to give them as much personal autonomy as possible, for example in terms of communication skills, is an investment for the future as it reduces the risk of challenging behaviors arising in adolescence or adulthood, which in turn involve the prolonged use of large resources.

Funding Statement

This study received no funding.

Peer-review: Externally peer-reviewed.

Author Contributions: Concept, Design, Writing, Literature Search – A.P.; Concept, Supervision, Critical Review – P.V.

Acknowledgment: The authors would like to thank Cecilia Baroncini for help in editing the text.

Declaration of Interests: The authors have no conflict of interest to declare.

What Causes Autism? Study of 100,000 Kids Reveals New Clues

From genetics to fevers, Columbia psychiatrist and epidemiologist Mady Hornig discusses the possible roots of this mysterious condition.

Autism is, for the most part, an inherited disorder: scientists estimate that up to 80 percent of a child’s risk of developing it is determined by DNA. But environmental and behavioral risk factors may also play a role, and since rates of autism in the US are at an all-time high, new and expecting parents are eager to learn more about the roots of this complex condition. 

For the past two decades, a team of researchers including  Michaeline Bresnahan ’99PH,  Mady Hornig , W. Ian Lipkin , and Ezra Susser ’74CC, ’82VPS, ’93PH, all epidemiologists at Columbia’s Mailman School of Public Health, has been searching for nongenetic clues to explain why some kids develop autism and others do not. The researchers, in collaboration with the Norwegian Institute of Public Health and other Columbia scientists, have scrutinized the medical histories of more than one hundred thousand children, as well as those of their parents. Armed with unprecedented amounts of data, the researchers are investigating dozens of hypothesized risk factors for autism — everything from parental age to maternal infections to vitamin deficiencies. Columbia Magazine recently spoke to Hornig, who is herself the mother of an adult son with autism, about the team’s research.

What are the major risk factors for autism?

Well, a father’s age, which was one of the first risk factors identified a couple of decades ago, is certainly consequential. My colleague Ezra Susser published a major study on this subject in 2006. Using data collected in Israel, he showed that men who become fathers when they’re over the age of forty are six times more likely to have a child with autism than men who father kids before turning thirty. In 2016, I coauthored a larger study , which analyzed our Norwegian data together with information from Israel and three other countries, that confirmed the impact of paternal age while adding some new twists. We discovered that women at the beginning or end of their childbearing years — those in their teens or in their forties, roughly — are also more likely to have children with autism. And the biggest risk here is when older men have children with much younger women. There may be something about the big mismatch in age that can disrupt a child’s neurodevelopment. 

Is this a reason for certain couples to avoid having children?

No, not necessarily. The thing to keep in mind is that autism is an extraordinarily complex condition that’s probably influenced by hundreds of genetic, environmental, behavioral, and dietary factors, several of which may have to co-occur and reinforce one another for the condition to arise. So even though parental age is one of the most powerful variables, it probably accounts for 5 percent or less of any child’s total risk. 

Do any other factors rise to this level of importance?

One of our more recent discoveries is quite significant: we found that if a pregnant woman experiences a high fever in her second trimester, her child’s chances of developing autism increase by 40 percent. We’re not sure why this is, but molecular evidence suggests that inflammation in the mother’s body may be associated with a delay in the formation of blood vessels in the fetal brain during a critical point in the development of the central nervous system. 

Does it matter what causes the fever?

We suspect that any number of viral or bacterial infections can probably have this effect, but we’d need to conduct even larger studies to know for sure. Influenza appears to be implicated: the mothers of many of the children diagnosed with autism in our cohort suffered a serious bout of influenza in the second trimester. But the type of infection seems to be less important than its severity, since it’s the fever itself — indicative of a systemic, full-body inflammatory reaction — that we found to be strongly associated with autism. That said, I wouldn’t want to be alarmist. A lot of women experience fevers while they’re pregnant and go on to have perfectly healthy kids. Again, the risk this poses for any particular child is quite small. 

So what’s the takeaway for pregnant women or women who plan to get pregnant?

Get a flu shot. Get vaccinated against COVID-19. Wear a mask and practice social distancing. Keep your immune system strong by exercising and eating healthy food. And if you do get sick and have a high temperature, talk to your doctor about possibly taking an anti-inflammatory medication like ibuprofen. (Acetaminophen does not counter inflammation in the same way). Physicians have traditionally cautioned against taking ibuprofen while you’re pregnant because it carries a risk of miscarriage, especially in the first trimester, or possibly deformation of the baby’s heart if given close to the time of delivery, but administration of anti-inflammatory medications for fever during the second trimester might be discussed with one’s physician. At that stage, you really want to reduce a fever as quickly as possible. 

Are any dietary factors important?

We analyzed the diets of all of the women and children who participated in our project to see if any vitamin or mineral deficiencies contribute to autism. What jumped out of the data was that women who take supplements of folic acid, or vitamin B9, early in their pregnancy are almost 40 percent less likely to have a child with autism. That wasn’t a shock because folic acid, which is found naturally in leafy vegetables, beans, and eggs, has long been known to be essential for fetal brain development. But our research revealed that folic acid supplements only protect a fetus against autism if a mother begins taking them shortly before conception and throughout the first two months of pregnancy, which is earlier than many women start on prenatal vitamins. That’s why I suggest that women who are planning a pregnancy talk to their doctors about taking prenatal supplements before they conceive. 

We’ve also found preliminary evidence that heritable differences in how the body regulates levels of vitamin D in the body may be associated with autism in certain subsets of people with the condition, but we need to do additional research to confirm that.

Other researchers have claimed that altering an autistic child’s diet, such as by removing gluten, dairy, or other potential allergens, can sometimes ameliorate symptoms. Have you found any evidence that a child’s diet might contribute to the condition’s onset?

No, though it’s possible that dietary factors play such a role and that we’d just need larger studies with more statistical power to spot them. But we’ve tended to focus our investigations on pregnant women’s health in the Norway cohort because we believe that the roots of autism are likely established in the earliest stages of brain development, in the womb, and that improving our understanding of these processes holds promise for uncovering tractable pathways for prevention.

What are you looking at next?

Our findings about the role of fever in causing autism raise all sorts of questions. For example, we’d like to know if psychosocial stressors in the mother during pregnancy may pose a risk by triggering low-grade inflammation in the body that translates into neurodevelopmental risk for the child. The use of antidepressants by expectant mothers has previously been hypothesized as a risk factor for autism, but other data suggest that antidepressants themselves are unlikely to be the culprit; we’ve considered instead that underlying or untreated depression or anxiety may be the real danger. 

Do you expect that we’ll see a spike in autism cases as a result of the COVID-19 pandemic?

Yes, sadly, I think that’s possible. And not just because many pregnant women have been getting COVID-19, but also because many people, pregnant women included, have been dealing with serious mental stress during the pandemic. It will be a few years before we know if autism rates rise in response, because the condition is usually diagnosed around age three or later. It is also quite likely that rates may rise more generally for a range of neurodevelopmental conditions, including ADHD.

Autism’s prevalence in the US has nearly tripled since 2000. Why?

Part of the explanation is certainly that doctors are more aware of the condition and are diagnosing it more frequently. But my colleagues and I suspect that other factors, like people having children later in life or environmental changes that are making our bodies more vulnerable to infections and immunological problems, are contributing to the uptick in cases.

You’ve spoken publicly about your own experiences raising a son with autism. Is there anything that you wish you’d known back when you were pregnant?

You know, it’s interesting, because I just discovered, through my own participation as a subject in an unrelated medical study, that I have a genetic mutation that’s known to interfere in the body’s absorption of folic acid. So this tells me that it’s possible I wasn’t getting enough folic acid when I was pregnant back in the late 1980s, even though I was taking the recommended four hundred micrograms per day. Now, did a lack of folic acid cause my son’s autism? That’s way too simplistic, because there were probably lots of genetic and environmental factors involved. Did it contribute? Maybe. I certainly wish that I’d known I was susceptible to folate deficiency when I was pregnant, because then I could have talked to my obstetrician about it and explored solutions. 

What is the genetic variant you have? And are pregnant women routinely tested for it today?

The gene variant, which is carried by about 15 percent of all Americans, is located in the gene MTHFR . Pregnant women aren’t routinely tested for it, and a physician might initially balk at ordering it, unless he or she is knowledgeable of cutting-edge autism research and knows how to interpret its results. But if a woman can find a doctor who thinks the test is beneficial and she has good insurance, she might get it covered.

Are there any genomic tests that can tell an adult if he or she is likely to have a child with autism?

No, because the genetics of autism are still poorly understood. Although scientists have identified more than a hundred genes linked to the condition, we can’t say precisely what many of these genes do, nor the degree to which they increase an individual’s risk. There are some geneticists who will analyze and interpret men’s and women’s DNA in an attempt to estimate this risk. However, such analyses don’t offer definitive predictions, since we still haven’t identified all of the mutations involved in autism. Further, the influence of certain gene variants on autism may also depend on whether an individual is additionally exposed to specific environmental risks that may affect the function of that gene variant during key periods of early neural development — much as the rare inherited disorder phenylketonuria (PKU), caused by genetic mutations, can be treated by reducing or eliminating the amino acid phenylalanine from a child’s diet. A good source of information on this topic is the SPARK website of the Simons Foundation, a New York–based nonprofit that supports autism research.

Eventually, we’d like to get to the point where we’re able to recommend a whole range of preventive steps parents might take to mitigate the damaging effects of specific mutations they carry. But we still have a lot more work to do, both in terms of identifying the causes of autism and in understanding how various risk factors interact. Right now, we’re still building the scientific foundation for that kind of customized clinical care. 

For more information on this research, see the following articles from Columbia's Mailman School of Public Health:

Study Identifies Biomarkers Linked to Autism Risk

Could Flu During Pregnancy Raise Risk for Autism?

Autism Risk Linked to Fever During Pregnancy

Autism Risk Linked to Herpes Infection During Pregnancy

This article appears in the Spring/Summer 2022 print edition of Columbia Magazine with the title "In search of autism's roots." 

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Autism May Have 'Unnoticed' Driver, Say Stanford Neuroscientists

Neuroscientists at Stanford University have proposed a new theory for a key driving force of autism spectrum disorder.

Roughly one in 100 children worldwide has autism, according to data from the World Health Organization. The term refers to a diverse group of conditions characterized by some degree of difficulty with social interaction and communication.

There are many potential causes of autism spectrum disorders, which include both environmental and genetic factors. However, we still know very little about the specific causes of the condition.

In a new comment paper, published in the journal Molecular Psychiatry , researchers from Stanford University, led by Karen Parker, have highlighted a potential key driver of this condition in certain individuals, providing a possible pathway to improving social abilities in some children with autism.

The theory focuses on a hormone called vasopressin, also known as antidiuretic hormone. This hormone is known to play a diverse range of functions in the human body, hence its multiple different names.

Antidiuretic hormone is most commonly used to describe its essential roles in regulating blood pressure, kidney function and concentrations of water in the blood. But it also plays an important role in modulating social communication and pair bonding behaviors, a context in which it is usually known as the previously mentioned vasopressin.

Because of its role in social interactions, Parker's lab have previously investigated the effects of vasopressin treatment in children with autism. While human trials have so far been limited to a small sample size, children who received this nasally introduced treatment showed significant improvements in social abilities as well as reduced anxiety and repetitive behaviors.

However, to demonstrate that autism is a direct result of vasopressin deficiency, rather than something that can simply be masked by introducing the hormone, the scientists said they needed to look at the other roles it has and how they might be impacted in people with autism.

The researchers said that a deficiency in vasopressin would likely be associated with difficulties controlling the body's water content. For example, they might see individuals with autism also experiencing excessive thirst, excessive urine production, or a condition called central diabetes insipidus which results from an inability to control the body's water balance.

Unfortunately, there are very few studies that explore the links between autism and these conditions. Several studies have shown that people with autism are more likely to experience excessive thirst compared to neurotypical individuals, and compared to those with different neurodevelopmental diagnoses, indicating that this thirst is not simply correlated with intellectual disabilities.

Children with autism also have significantly higher rates of urinary incontinence and bedwetting, which may be a symptom of excessive urine production.

"The emerging evidence reviewed above is consistent with decreased brain [vasopressin] production in at least some individuals with autism spectrum disorder," the authors write.

"However, given a lack of awareness of [vasopressin's] diverse functions, these symptoms may be subtle enough to go unnoticed or, if prominent, may be misattributed to other causes."

More research is now needed to identify whether there is indeed a clear link between water balance-related medical conditions and autism spectrum disorders, as well as determining whether a positive relationship exists between vasopressin deficiency and the severity of social symptoms in individuals with autism.

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Autistic People’s Perspectives on Functioning Labels and Associated Reasons, and Community Connectedness

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• Published: 20 March 2024

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• Nathan Keates   ORCID: orcid.org/0000-0003-3070-1580 1 ,
• Farradeh Martin   ORCID: orcid.org/0000-0003-3560-8123 2 &
• Krysia Emily Waldock   ORCID: orcid.org/0000-0001-9631-3930 3  

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Functioning labels have been used in relation to autistic people and differentiating between support needs. The main purpose of our study was to identify perspectives regarding language about being autistic. In regard to themselves and functioning. Furthermore, we investigated the influential factor of community connectedness on use of language acceptability and functioning labels.

516 autistic respondents completed our survey. We asked about demographic characteristics, how respondents would like autistic people to be termed in the survey, and their acceptability (person with autism, Aspergers, disorder, conditions, living with autism, autistic). We also asked about respondents? Autistic Community Connectedness, acknowledging the implicit nature of language and identity (Stets & Serpe in New directions in identity theory and research, Oxford University Press, 2016). The main focus of our survey was whether or not to use functioning labels, and the supporting rationale.

Qualitative study using Merleau-Ponty’s hermeneutic phenomenology as a philosophical framework. Data collection took place between 2020 and 2021 in a southern Spanish province. A total of 22 in-depth interviews were conducted using open-ended questions until data saturation was reached.

97% of respondents stated that they find the term ‘autistic’ acceptable. Respondents who did see merit in using functioning labels to describe autistic people also reported not necessarily using them about themselves. Community membership was found to impact the participants’ language preferences to describe the support needs of autistic people, including the use of functioning labels.

The proposed best option for language preferences is not to find consensus but instead, opt for the optimal choice that people find the least offensive or disagreeable. This means using identity-first language and not using functioning labels.

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This study was funded by the Summer Vacation Research Competition at the University of Kent, notably for Farradeh Martin’s time as a research assistant.

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This study uses identity-first language (IFL). Previous literature has shown a preference for IFL among a majority of autistic people (e.g., Keating et al., 2023 ; Kenny et al., 2016 ), with being autistic viewed as intrinsic to the individual?s life (Williams, 1996 ) and inextricable from one?s identity (Sainsbury, 2000 ).

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Keates, N., Martin, F. & Waldock, K.E. Autistic People’s Perspectives on Functioning Labels and Associated Reasons, and Community Connectedness. J Autism Dev Disord (2024). https://doi.org/10.1007/s10803-024-06316-3

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Puppets and Autism Therapeutics

Chawarska & colleagues receive 2024 nancy staub publications award, nancy staub publications award.

On the occasion of World Puppetry Day on 3/21/24, Dr. Kasia Chawarska and colleagues received the 2024 Nancy Staub Publications Award for contributing to the understanding of world puppetry. The award is named in honor of Nancy Lohman Staub, an original member of UNIMA-USA.

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"A really marvelous start to the long term research needed to try to quantify the puppetry and ASD connection." "They involved experts in puppetry—something many studies do not. It also acknowledges the limitations and suggests further work. This type of work . . helps to balance our anecdotal experiences . .. Studies like this are an important part of the research ecosystem." "A model for future research in how puppetry can be used in therapy."

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New Research Could Change Our Understanding of Autism

By Flinders University October 3, 2022

It is commonly believed that autistic individuals are worse at recognizing other people’s emotions. Could this belief be false?

Research on identifying facial emotional expressions may alter how we see autism.

There is a widespread belief that autistic people are poor at recognizing the emotions of others and have little insight into how effectively they do so.

However, a recent Australian study has demonstrated that individuals with autism are just slightly less accurate than their non-autistic peers at recognizing facial expressions of emotion.

Recent research shows we may need to reevaluate widely held beliefs that adults with autism experience difficulties with social emotion recognition and have little insight into their processing of other people’s facial expressions.  The findings were recently published in the journal  Autism Research .

In a Flinders University study , 63 individuals with autism and 67 non-autistic adults (with IQs ranging from 85 to 143) took part in three 5-hour sessions comparing their identification of 12 human facial emotion expressions such as anger and sadness.

During her Ph.D., Dr. Marie Georgopoulos gathered a broad range of data, with later reanalyses by the research team serving as the foundation for a series of research papers.

The results could mean social difficulties linked with autism may actually reflect differences that only become apparent in certain social interactions or high-pressure scenarios, challenging the perspective that autistic adults can’t adequately read facial emotion expressions.

Study co-author and Matthew Flinders Distinguished Emeritus Professor of Psychology, Neil Brewer, says by deploying a wide array of emotions, presented in a variety of different ways, this study suggests that autistic individuals are, on average, only slightly less accurate but at the same time somewhat slower when classifying others’ emotions.

“These findings challenge the notion that adults with autism are more likely to be overwhelmed by increasingly dynamic or complex emotional stimuli and to experience difficulties recognizing specific emotions.”

There was considerable overlap in performance between the two groups, with only a very small subgroup of autistic individuals performing at levels below that of their non-autistic peers.

The differences between groups were consistent regardless of how emotions were presented, the nature of the response required, or the particular emotion being looked at.

The research also showed that while there was considerable variability in terms of individuals’ insight into their interpretation of others’ emotions, there was no evidence of any differences between the autistic and non-autistic samples.

“The sophisticated methodologies used in these studies not only help refine our understanding of emotion processing in autism but also provide further demonstrations of hitherto unacknowledged capabilities of autistic individuals.”

“Further advances will likely require us to tap behaviors associated with emotion recognition and reactions to others’ emotions in real-life interactions or perhaps in virtual reality settings.”

Reference: “Facing up to others’ emotions: No evidence of autism-related deficits in metacognitive awareness of emotion recognition”  by Neil Brewer, Carmen A. Lucas, Marie Antonia Georgopoulos and Robyn L. Young, 7 July 2022, Autism Research .  DOI: 10.1002/aur.2781

The study was funded by Flinders University .

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27 comments on "new research could change our understanding of autism".

Probably just distracted. We often have other issues on our mind..

As an Occupational Therapist, I would argue that Autistic persons recognize what is actually being conveyed by the person, rather than accepting the social mask they present. This is upsetting to folks who rely on others to accept what they try to present, rather than seeing beyond it. Most of the person’s with Autism that I work with perceive more stimuli, not less.

I agree with Deb Eckert.

I’m an autistic adult, and I wanted to point out that we’ve been trying to tell the scientific community these things for decades. We are the experts of our own lived experiences, and we’ve been systematically left out of the conversation about our own lives because we’re presumed incompetent by the academic/scientific community despite the fact that so many of us are in those communities.

I’m also curious about several things: First, why isn’t there more transparency into why these types of studies are conducted? I’m reluctant to participate in any study which doesn’t specify its aims or reasons for existing. I don’t wish to inadvertently support eugenics-adjacent work. What I mean is, typically, the scientific community is still doing research for “a cure” rather than to leverage more support and societal acceptance of our neurotype.

Also, this sample size is miniscule, and that could likely be because autistic adults are less likely to be willing to participate in studies that don’t clearly state their aims.

Im an autistic adult and while my autistic partner is worse than average at this, he also Seems to have some level of face blindness, as many autistics do. I actually think i am at the other extreme and i pick up the most subtle differences in expression, even more than neurotypicals

There’s more than “can and can’t” in every level of life. I refer to the way NTs think as linear. They have to be taught different perspectives whereas we NDs just seem to have that basic concept ingrained in our psyches. As such, when NTs evaluate us, their perspective is linear falling in a “one or the other” category.

I think the other comments touched on this. It’s not that “we can’t”; it’s that there’s face blindness, reading other cues NTs don’t typically pick up on so we are ignoring their expressions as we sense it’s a cover, other thoughts in the forefront keeping our main focus,etc.

When we look at others, we see a reflection of who we are. If you think in a linear fashion, you perceive in a linear fashion. If you think in an interconnected fashion, you perceive in an interconnected fashion.

It’s hard to explain how there’s actually trillions of roads to those who can only see two; especially when you need them to see how those roads connect to understand.

New theories discuss how the social deficits we sometimes experience may be not an impairment in reading body language (I agree that we often read between the lines and see the intentions underneath more accurately than NT’s) but in prediction because we cannot always quickly process the interaction that is happening and how it feels to the other person/how we are coming across to him/her and predict how the individual will respond. Very interesting idea. https://www.pnas.org/doi/10.1073/pnas.1416797111

As the grandmother of a young adult with autism and retired worker in the field of developmental disabilities, I greatly appreciate the previous comments and self advocacy and disclosure..

I agree with all previous comments and wish to add this: the scientific community is only just beginning to recognize that autistic people are not uniquely incapable of socializing, but rather that autistic people socialize more adeptly with other autistics, and that on the flip side ALLISTIC people socialize more adeptly with other ALLISTICS. The social “disability” is comparable on either side when intermixed. Then I ask, whose expressions were participants analyzing, autistics or allistics? I’m curious what difference that might make.

I think a lot of the time those of us on the spectrum are so used to masking, we recognize that all people are masking to some degree much of the time. The “delay” in reporting what emotion someone is expressing is in part to us trying to sus out what the person is *actually * feeling vrs what they are attempting to *present* they are feeling. This is why when you find someone who isn’t masking and who doesn’t need you to mask yourself, it is so much easier. Half the amount of social energy is required to interact with that person and it’s easy. Why don’t these studies ask autistic people what we think of things instead of just observing us through a neurotypical lense and trying to fit what we are doing into that framework? Not all of us can communicate, but many of us can. Why not just ask us?

As an autistic adult with an autistic husband and children, I agree with all previous comments and want to state that I LOVE the comments given by other autistic adults. I love how much more our voices are being heard but especially USED with out fear 💪

Deb Eckert, I think you are right on the money. You are the first person to put in to words what my own experience has been. And the problem comes in when the high functioning autistic responds to what they are perceiving beyond the mask. Now I understand why so many social interactions go haywire. Your comment was helpful!

I was told that I can’t be autistic because I can read emotions and nonverbal communication. By a provider claiming to specialize in autism. Apparently the conflation of autism and alexithymia is still prevalent. I hope the discourse is changing as the science begins to better include non-cisgender white boys as the research standard. I recognize emotions too well. I just don’t always understand why it is there or whether I am expected to act on it or pretend not to notice it.

Love all the like minded abby-normal people. I understand fully. Just wish it is not so hard to be accepted in the workplace because different. I am profoundly deaf, lip-read and fully mainstreamed. I work as a Baker and have a good educational background and experience. Yet I fail to meet corporate social standards for their in the box thinking. Fun fun. Happy thoughts to all and keep proving the ” normals” wrong. They hate that. Lol

I am autistic – I have the problem where I can see what the person is really feeling instead of what they want me to see but I cannot recognize my own family doctor if he’s not in his office!

Living with autism the stigma from the hospitals and mental health prefessionals is so sad and that college’s and universities are refusing us a chance for education

As a parent of autistic child, why society doesn’t ask autistic adults about this things, the adults with autism are the biggest experts in autism why can’t we learn from them they are the once feeling autism not us no matter how smart scientists might be doesnt make them experts on autism no one knows how people with autism feel and see but the person with autism I just wish their were ways that families that have kids with autism was able to communicate with autistic adults to have an understanding about autism and learn from them coping skills and how to deal with behavioral issues with our kids we should be learning from autistic adults not from people who assume that they know autism.

Im also glad to see so many people with autism replying to this article I totally i agree with all of y’all comments I really feel like we all gotta stand together and help non autistic people understand autism better because people with autism are also very intelligent and smart loving people.

I have this disability with the spectrum. I’ve learned to master my other six senses in order to try an figure out what other are feeling. This is interesting but please make sure with comments you have both genders so we are not having a one sided conversation . That what I struggle with more this world become more a one sided conversation an it’s not stimulating me .

Root causes are the realm of functional medicine, not traditional AMA pharmaceutical suppression therapy. That said, human toxicity pathways and genome vulnerability matters bigly in human neurotransmitter balance. Dirty Genes is a great read.

These are some really great comments. I hope these people are heard! We need more, better, and better oriented research.

So, I’m not autistic, probably, but I’m on the spectrum. I’d say it’s true that I can recognize people’s emotions, but, only when that’s specifically what I’m trying to do (which is almost never during a normal conversation, I’m usually more worried about what others are thinking of me, if anything, and how to act so as not to upset them). In most interactions, details elude me. Details such as facial expressions. If someone asked me to look at facial expressions and identify them, however, then that’s academic, of course I can do it.

So. If I’m as like autistic folks as it seems, then my assumption is that it’s not that folks with autism can’t recognize others emotions, it’s that they normally don’t. In order to do so would require multitasking, which, I know I’m personally pretty bad at.

Autistic genetics allow us to retain our sense of synesthesia, a natural perception that sees behind social veils. This is why animals have heightened senses too and why neurotypical people rely on words to understand what the person wants to convey. We just see more than that and learned to ignore the facades because they are often dangerous. If you just take people at their word you’ll get manipulated.

I wish that people were more trustworthy but eugenics and genocide is too common in our human evolution.

Do IQs below 85 have different results? My son has classic autism (doctor’s words, not mine) and now at 18 has been assigned an IQ of 45. He has a near photographic memory for directions and other facts, so this low score was surprising. At any rate, I do think he understands facial expressions and emotional cues, sometimes he just doesn’t know the right way to respond to them. But he does know when I’m sad or upset and tries to make me feel better by rubbing my back or bringing me water. I think it’s just so hard to identify and catalog the differences of autistic brains, each one, each person with one, is just so unique.

As the mother of an Autistic Adult I am so impressed and encouraged by how each of you are using your words and voices. It is hard to know if my son antisocial because of fear or if it is simply cause it’s his choice?

I have two teen boys with autism. One stays in his own world, I say his own world like he isn’t paying attention to others only what’s Infront or around him at the time and likes staying to himself and away from people an noise. But if I laugh and smile with him and. Play he will laugh and smile back. If I speak to him serious he will get that I am serious and it’s not time To play.my other son is more curious they’re both nonverbal/ severe autism.he loves. People enjoys the Crowd he laughs and smiles too and smiles and laughs with me or when I blow him a kiss he will giggle. He has great sense of direction and loves electronics. He can tell if I’m mad or happy. Every person with autism is different it doesn’t mean they know less or they can’t perceive emotions. I’m sure they can, and it’s either they chose to or they choose not to cause it can be overwhelming.my thoughts/opinion as a mother .

As an adult who was recently diagnosed with autism (at age 41), my experience has been that I perceive the emotions of others and I will often take it on and feel it deeply myself. But, I am not able to express this very well (or at all at times) to others. So it may seem like I don’t understand the emotional cues even though I do.

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General Description

LaGuardia Community College (LaGCC) is seeking an experienced and dedicated individual to fill the position of Coordinator for Autism and Neurodivergent Services within the ACCES Pre-Employment Transition Services Program. This grant-funded role is instrumental in facilitating the successful transition of students with disabilities from postsecondary education to meaningful employment opportunities. The Coordinator for Autism Services, reporting to the Director of the Office of Accessibility Services, ensures compliance with Section 504 of the Rehabilitation Act of 1973 and Title II of the Americans with Disabilities Act of 1990. This role involves coordinating services for students with learning differences, particularly those associated with Autism Spectrum Disorder (ASD), ADHD, executive functioning challenges or severe social anxiety. The coordinator will provide counseling, support, and resources, working collaboratively with the Wellness Center, Career Services, the Office of Accessibility, and other college leaders to promote a culture of student learning and engagement.

This is a grant-funded, hybrid position through the Research Foundation of CUNY. Appointments are subject to availability of funding and satisfactory performance.

Responsibilities:

• Assess the presenting needs of Neurodiversity students and connect them to appropriate campus and community support services.
• Conduct workshops and outreach activities for faculty, staff, and students to increase awareness of mental health and wellness resources.
• Maintain accurate records of student contacts, referrals, and activity logs for reporting purposes.
• Serve as a resource to faculty and administrative staff regarding students with mental health needs and behavior issues.
• Evaluate documentation from qualified professionals to determine student-specific accommodation plans.
• Coordinate students' academic, career, and personal support needs with relevant campus departments.
• Analyze student academic difficulties and situations to determine appropriate accommodations.
• Ensure faculty and staff are well-informed about laws governing students with Autism and ADHD.
• Manage day-to-day operations of the LaGCC Neurodiversity Program, including budget management, staffing, and scheduling accommodations.

Other Duties

Other Duties and Responsibilities:

• Assists with the development of forms, procedures, and policies for the Office of Accessibility and Neurodiversity Program
• Coordinate academic, career and transition services for students requiring academic accommodations.
• Disseminate information through departmental and institutional publications.
• Provide ASD/ADHD/Executive Functioning coaching services to qualified students.
• Perform additional duties as assigned by the director.

Qualifications

• Master's degree in an appropriate discipline from an accredited institution and at least three to six years of additional experience pertinent to the scope and complexity of the project, with at least one year of management experience.
• Six years of related, post-baccalaureate, professional experience.
• Experience counseling neurodivergent populations, including those with Autism Spectrum Disorder and ADHD.
• Ability to review student records for ADA accommodation needs.
• Cultural competency and experience providing crisis counseling services in a higher education setting.
• Excellent interpersonal skills, attention to detail, and ability to manage multiple projects.
• Proficiency in standard MS Office programs.
• Ability to organize and supervise the work of administrative and support staff.
• Knowledgeable in ADA-504 Regulations and disability Paradigms.
• Familiarity with post-secondary education systems and working with diverse student populations from cross-disability backgrounds.
• Experience collaborating with ACCES-VR, NYSCB, OPWDD, and other governmental agencies.
• Commitment to diversity, equity, and inclusion.

Preferred Qualifications:

• New York State licensed or license eligible as a mental health practitioner (LMHC, PsyD or LCSW) or as a Board-Certified Behavior Analyst (B.C.B.A).
• Experience providing clinical supervision to employees seeking licensure in a mental health or BCBA profession.
• Familiarity with issues related to psychological, academic, and career development.

About LaGuardia Community College

LaGuardia Community College is one of seven community colleges of the City University of New York/CUNY. LaGuardia offers more than 60 associate degree and certificate programs. Upon graduation most students transfer to four-year colleges, typically in CUNY, to complete their baccalaureate degrees. Graduates of career programs such as Nursing, Computer Technology, and Veterinary Technology enter the workforce.

In 2022, LaGuardia served over 23,000 students in pre-college, associate degree, and continuing education programs. More than one-third of LaGuardia students are foreign-born. They come from 130 countries and speak 54 heritage languages. More than half (54 percent) are first-generation college students. Virtually all students are ethnic minorities (88 percent), 57 percent are women, 29 percent are over the age of 25. Forty-eight percent of LaGuardia students are Hispanic, almost double the threshold of 25 percent required by the US Department of Education for designation as a Hispanic-Serving Institution (HSI). Seventy-three percent of LaGuardia students receive some form of government financial aid.

RFCUNY Benefits

About the research foundation.

The Research Foundation of The City University of New York (RFCUNY) was established as a not-for-profit educational corporation chartered by the State of New York in 1963. RFCUNY supports CUNY faculty and staff in identifying and obtaining external support (pre-award) from government and private sponsors and is responsible for the administration of all such funded programs (post-award).

RFCUNY stands between CUNY’s principal investigators (PIs) and the sponsors who support them and strives to fulfill its essential responsibilities to both groups. Working closely with individual PIs and Grants Officers on the campuses, RFCUNY oversees employment, accounting, audit, reporting, purchasing, and special responsibilities that include management of a planned giving program; liaison with governmental agencies and foundations; negotiation of agreements; facility construction and renovation; protection and commercialization of intellectual property; and compliance with applicable standards in research involving human subjects, animal care, environmental and radiological safety, and conflicts of interest.

Equal Employment Opportunity Statement

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