• Psychedelic Medicine

AUTISM | +70 articles

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Excess of immune cells found in the brains of people with autism

by Ashley Yeager | The Scientist | Jan 13, 2020

An accumulation of T cells and astrocytes in postmortem brain tissue hints at possible autoimmune origins for many cases of autism.

About four years ago, pathologist Matthew Anderson was examining slices of postmortem brain tissue from an individual with autism under a microscope when he noticed something extremely odd: T cells swarming around a narrow space between blood vessels and neural tissue. The cells were somehow getting through the blood-brain barrier, a wall of cells that separates circulating blood from extracellular fluid, neurons, and other cell types in the central nervous system, explains Anderson, who works at Beth Israel Deaconess Medical Center in Boston. “I just have seen so many brains that I know that this is not normal.”

He soon identified more T-cell swarms, called lymphocytic cuffs, in a few other postmortem brains of people who had been diagnosed with autism. Not long after that, he started to detect another oddity in the brain tissue—tiny bubbles, or blebs. “I’d never seen them in any other brain tissue that I’ve looked at for many, many different diseases,” he says. Anderson began to wonder whether the neurological features he was observing were specific to autism.

To test the idea, he and his colleagues examined postmortem brain tissue samples from 25 people with autism spectrum disorder (ASD) and 30 developmentally normal controls. While the lymphocytic cuffs only sporadically turned up in the brains of neurotypical individuals, the cuffs were abundant in a majority of the brains from individuals who had had ASD. Those same samples also had blebs that appeared in the same spots as the cuffs. Staining the brain tissue revealed that the cuffs were filled with an array of different types of T cells, while the blebs contained fragments of astrocytes, non-neuronal cells that support the physical structure of the brain and help to maintain the blood-brain barrier.

Reading the literature and drawing on his experience as a pathologist, Anderson started to think about blebs and what they do when they show up in tissues beyond the brain. "For example, in cancer, blebs are generated when T cells attack a tumor cell,” he explains.

“The tumor cells will spit out surface membrane pieces . . . as a way to protect themselves from the attack, but also possibly to deliver signals to other cells around them.” In the brain samples from individuals with ASD, the blebs visually resembled blebs created in response to tumors. The brain blebs may be formed in response to the infiltration of T cells into the space between blood vessels and neural tissue, Anderson suggests, while the cell fragments they contain could come from the astrocytes that make up the glia limitans—the final wall of defense separating neural tissue from foreign and toxic substances circulating in the blood.

Lymphocytic cuffs, meanwhile, are common in diseases such as skeletal muscle polymyositis, a type of chronic muscle inflammation. That disease has many traits of autoimmune disorders, in which the body perceives and attacks parts of itself as foreign, and it’s a disease that Anderson had often seen in biopsies. “I’ve seen many cuffs under the microscope,” he says. “So I know what a T-lymphocyte attack of an organ looks like.” The cuffs also show up in response to toxins, or antigens given off by a virus, and cause brain inflammation.

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FRIENDLY FIRE: Swarms of lymphocytes (purple) in the space between blood vessels and neural tissue are more
common in postmortem brain samples from people with autism (left) than in samples from controls (right).

"The finding of both cuffs and blebs in the postmortem brains of autistic people suggests that the individuals’ T cells were also responding to some antigen—either a molecule considered foreign even though it’s created by the person’s own body, or a viral or bacterial one encountered in utero,"
Anderson says. Except for rare cases in which an autism-linked genetic mutation can be identified, the cause of ASD is unknown. According to the new data, a majority of the unexplained cases could have arisen as an autoimmune disorder or an inflammatory condition triggered during pregnancy, Anderson and colleagues concluded in a recent paper.

“It’s really a very striking finding,” says Dan Littman, an immunologist at New York University Langone Health. "The team’s results," he notes, "fit well with recent animal research showing a connection between the immune system and autism—specifically that interleukin-17 (IL-17), a signaling molecule produced by T cells to help fend off pathogens, can cause rodents to exhibit behaviors associated with autism."

In 2016, Littman and colleagues reported that blocking the production of IL-17 in pregnant mice prevented their pups from developing an autism-like condition. “You could imagine that if cytokine-producing cells in the central nervous system are localizing in particular places, they could be contributing to behavioral changes,” Littman says.

The findings also dovetail with what little has been described in the way of neuropathological features of autism in humans, Anderson says. Fifteen years ago, Carlos Pardo-Villamizar of Johns Hopkins University and colleagues studied postmortem brain tissues and cerebrospinal fluid from individuals with autism and found signs of neuroinflammation in the cerebral cortex, white matter, and cerebellum—regions essential for sensory perception and for motor skills such as balance and coordination. Transcriptional profiling of postmortem brains from individuals with autism revealed elevated levels of messenger RNAs that make inflammatory proteins, and more-recent data support the conclusion that the brains of individuals with autism are typically in an inflammatory state.

"While the Boston team’s discovery of T cell–induced inflammation associated with autism is noteworthy, the astrocyte blebs are particularly intriguing," notes Duke University neuroscientist Staci Bilbo. "The development of the blebs in reaction to the cuffs points to a role for the blood-brain barrier breaking down, something rarely studied in autism," she says. Looking further into the interaction between the cuffs and the blebs could reveal not only how, but why T cells are getting into the brain, giving clues to the origins of autism in cases driven by immune dysfunction.

Anderson says his team "has already started follow-up experiments, running transcriptome profiling of the cuffs and blebs." Infiltration of T cells into the space between blood vessels and neural tissue, and the subsequent generation of blebs, “almost for sure is going to trigger the expression of unique genes and proteins in the astrocytes, and may dissociate autism even more specifically from other conditions,” he says. His team is also looking at the receptors on the T cells in the cuffs to determine what’s provoking the immune cells to swarm. The researchers are studying all of the genes linked to autism and to autoimmunity as well—an analysis that has begun to reveal “a signature of an autoimmune genetics within the existing autism genetics,” Anderson says. “It’s a multi-pronged approach.”

 
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KU Leuven, Belgium

'Love hormone' improves attachment issues in people with autism

by Tine Danschutter, Katrien Bollen, KU Leuven | Medical Xpress | 22 Jan 2020

Oxytocin, often dubbed the "love hormone," is known to promote social bonding. Researchers at KU Leuven have now discovered that administering oxytocin to adult men with autism makes them more open to close emotional bonds with others. The hormone has positive long-term effects as well. The researchers published their findings in the journals Molecular Autism and Biological Psychiatry: Cognitive Neuroscience and Neuroimaging.

A team led by Professor Kaat Alaerts (KU Leuven) recruited 40 adult men with autism spectrum disorder to take part in their study.

"In a first stage, we examined the amount of oxytocin produced by the participants themselves. The subjects also filled out several questionnaires," Professor Alaerts explains. "An analysis of the data revealed that the amount of oxytocin found in the subjects' saliva was inversely related to their self-reported attachment issues."

In a second stage of the research, the team examined the long-term effects of administering oxytocin through a nasal spray. This experiment produced remarkable results: the participants who had been given oxytocin for four weeks experienced positive effects until up to a year later.

Less repetition, more attachment

"We divided the 40 participants into an experimental group and a control group. The control group received a placebo for four weeks," says doctoral student Sylvie Bernaerts, who is the first author of the study in Molecular Autism.

"Over the course of a full year, we also asked the participants to fill out questionnaires on four different occasions. These questionnaires were used to examine the impact of the oxytocin-containing nasal spray on the symptoms of autism."

In terms of social interaction, the researchers found no difference between the experimental group and the control group. But for repetitive behavior (including the need for routines) and attachment, the results were significant: "The people in the experimental group reported far less repetitive behavior and also reported fewer problems with forming close relationships."

This study shows for the first time what the long-term effects are of repeatedly administering oxytocin to people with autism. Professor Alaerts: "Participants who took oxytocin every day for four weeks experienced positive effects until up to a year later. That's a remarkable result."

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Further research necessary

For this study, the scientists only selected male participants. This was partly because autism is more prevalent in men, and women's hormonal cycle may influence the test results. Furthermore, oxytocin is already being used to induce labor or breastfeeding in pregnant women or women who have recently given birth, respectively. In other words, there are more factors to take into account in female test subjects.

And what about using oxytocin as a treatment? "As oxytocin is already being used in medicine, you might think that we can start using it quite soon to address attachment issues or to reduce repetitive behavior in people with autism," says Professor Alaerts. But she is quick to temper expectations: "The findings we're presenting today are the result of a first pilot study. A lot of further research needs to be done before oxytocin can be used to treat people with autism."

 
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How psychedelics helped an autistic woman break out of her shell*

by Alexander Lekhtman | Psychedelic Times | Feb 4, 2020

I first met Sammy when she posted an ad in our freshman college dorm building: ‘Musicians wanted: Forming a funk-pop band!’ it declared. We had our first and only impromptu jam session that fall, then I didn’t see her again until the summer. That June, she wandered into a dreary acoustic show my band played at The Bitter End in downtown Manhattan. Afterwards, we all journeyed back to another room I had just moved into that week, to celebrate with cheap beer and moderate-quality weed.

She firmly refused my then girlfriend’s offer to chip in some cash for her weed: “Nonsense, it’s meant to be shared!” she laughed. From that night on, Sammy became one of my best friends in New York. And slowly over the years, I came to understand how she lived and thrived as an adult with autism spectrum disorder (ASD).

“It’s hard to describe living with ASD because I’ve never lived without it,” said Sammy to Psychedelic Times. “There’s a lack of cognizance, and a sense of ‘living in my head.’ My earliest memories were very dream-like and divorced from reality. The older I’ve gotten, the more grounded I have become.”

Modern psychedelic research has focused on psychological disorders like post-traumatic stress disorder (PTSD) and various forms of depression. But we are slowly learning more about how different psychedelics may affect or help people living with ASD, including psilocybin, MDMA, and cannabis.

Sammy, originally from Los Angeles, CA, was diagnosed with ASD at age three but didn’t learn of it until she was ten. Since moving to New York City for college at age eighteen, she began a long, bizarre, and drug-fueled journey that helped her better understand her mental health and make lifelong friends. But Sammy cautions that like anyone else, people with ASD have to be especially careful with drugs like cannabis or LSD, and understand their complex effects.

Throughout her life, Sammy has also struggled with obsessive compulsive disorder, dissociative tendencies, bipolar disorder, and complex post-traumatic stress disorder (PTSD). She describes her ASD as the ‘base layer’ for these other mental health challenges.

Being a woman, taking acting classes at a young age, and performing well in school all gave Sammy an advantage in managing her ASD, she said. But to this day, she still feels there’s something “off” about her. She has also always been highly attuned to sensory input, something which psychedelics intensify.

Psychedelics only became a major part of her life after Sammy moved to New York to study film. “New York itself is like one giant psychedelic trip,” she said. She found in New York a saturated and sophisticated drug-using culture, with even more weed smokers than in her native Los Angeles.

Through her involvement in various communities and spaces—from her college chapter of Students For Sensible Drug Policy (SSDP) to sweaty BDSM parties to hippy warehouse raves—Sammy was exposed over the years to cannabis, MDA, LSD, DMT, psilocybin mushrooms, salvia, and MDMA.

She quickly picked up a regular smoking routine, but admits that cannabis still has complex effects for her. “It does make me calmer, but also more detached,” she said. “I’m not in a firestorm, emotionally, but I sometimes feel foggy when I use it.” The effects simply hinge on how much she consumes at a time. She noted that cannabis also helps her be more creative and empathetic, and makes her depression weigh less.

Some people with ASD naturally hallucinate, Sammy explained, and can suffer sleep paralysis. LSD, she found, helped her distinguish between different types of hallucinations and helped make them less uncomfortable, which also helped to calm her nightmares.

“LSD boosts the natural tendency my brain has to create patterns and dreams,” she said. “My acid trip was the first time I could actually control these visuals. It made me feel very child-like.” Of course, as for anyone using psychedelics, she noticed that slight changes in emotion could drastically alter her trip, for better or worse.

Another benefit Sammy found from psychedelics was in managing her dissociative tendencies. Dissociation is common for people with ASD and people that have suffered trauma, Sammy explained. She describes it as a feeling of confusion and emotional duress with no obvious cause.

“Acid makes me feel more grounded because I don’t dissociate,” she said. “I feel hyper-aware. Having ASD, you have a tendency to think in more abstract ways. So my acid trip feels more like home to me.” For comparison, the effect is less predictable with cannabis, which may either be helpful or have no effect on her dissociation.

Sammy has experimented with other substances like MDMA and psilocybin, though with less success. “MDMA made me feel talkative, social, and more confident,” she recounted. “But it didn’t lead to cognizant social revelations like with LSD. I think a lot of what I consumed was also laced, and generally not that great for my health.”

She continued, “One of the first times I tripped on mushrooms, I had a very negative experience, and it has colored my feelings about it ever since. After the one particularly bad trip, I always feel like I have a nasty cold when I use them. Last time I did them I watched Logan’s Run with a friend, and while the movie was great and my mood was fine, I physically felt sick.”

Sammy decided that the taste of mushrooms is too earthy for her to enjoy. Unlike with LSD, her experiences with MDMA and psilocybin did not really help her grow and understand her autism.

Sammy’s use of psychedelics has varied over the years and since she graduated from college. She’s not a perfect case study for understanding the cognitive effects of psychedelics on people with autism. But perhaps the most beneficial and instructive aspect of Sammy’s drug use was that it helped her make friends and share experiences with people from all around the country and the world.

Sammy moved back to Los Angeles in 2018, and has taken up the most psychedelic activity of all: story-telling. When she’s not working on social media for a popular television brand, she is singing, performing stand-up comedy, and writing and producing short films.

“I’ve always had stories inside of me, but it’s hard to communicate when you’re autistic,” she said. “Now I’m learning how to collaborate with other people and see my ideas change shape. I’m not focusing on all the ways I could fail—I’m just doing.”

 
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Study detects abnormally low levels of a key protein in brains of young men with autism

by Massachusetts General Hospital | Medical Xpress | 21 Feb 2020

Using cutting-edge imaging technology, researchers at Massachusetts General Hospital (MGH) have shown that the brains of young men with autism spectrum disorder (ASD) have low levels of a protein that appears to play a role in inflammation and metabolism. This surprising discovery, which published online today in the journal Molecular Psychiatry provides an important new insight into the possible origins of ASD, which affects one in 59 children.

ASD is a developmental disorder that emerges in early childhood and is characterized by difficulty communicating and interacting with others. While the cause is unknown, growing evidence has linked ASD to inflammation of brain tissue, or neuroinflammation. One sign of neuroinflammation is elevated levels of a substance called translocator protein (TSPO), which can be measured and located in the brain using positron-emission tomography (PET) and anatomical magnetic resonance imaging (MRI). The MGH study, led by Nicole Zurcher, Ph.D., an investigator in MGH's Athinoula A. Martinos Center for Biomedical Imaging, was the first to use a new generation of PET "tracers," which more accurately detect TSPO, to examine the brains of people with ASD.

In the study, Zurcher and her colleagues scanned the brains of 15 young adult males (average age, 24) with ASD. The group included both high- and low-functioning subjects with varying degrees of intellectual abilities. For comparison, Zurcher's team scanned the brains of 18 healthy control subjects who were similar in age. The investigators hypothesized that the scans would show increased levels, or expression, of TSPO in subjects who have ASD.

"To our surprise, that's not what we saw," says Zurcher. Instead, the scans showed that the brains of males with ASD had lower levels of TSPO than those of the healthy subjects. In fact, the men with the most severe symptoms of ASD tended to have the lowest expression of TSPO. When the tests were repeated several months later, the pattern persisted. The brain regions found to have low expression of TSPO have previously been linked to ASD in earlier studies, and are believed to govern social and cognitive capacities such as processing of emotions, interpreting facial expressions, empathy, and relating to others. "We know these brain regions are involved in autism," says Zurcher.

To understand this unexpected finding, Zurcher notes that TSPO does more than serve as a marker of inflammation. "It has multiple complex roles," she says, and some actually promote brain health. For example, adequate TSPO is necessary for normal functioning of mitochondria, which are the "power houses" in cells that produce energy. Earlier research has linked malfunctioning mitochondria in brain cells to ASD.

Zurcher and her colleagues next plan to study brains from deceased donors with the goal of determining which brain cells in people with ASD might experience mitochondrial dysfunction, which she says may well be occurring alongside neuroinflammation and other mechanisms to cause ASD. "Our study has generated new hypotheses that now need to be investigated," says Zurcher. "There's more work to be done."

 
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Oxford University

Researchers develop new tool to help detect hidden signs of autism in adults

by Cardiff University | Medical Xpress | 17 Feb 2020

Researchers have developed a potential new tool to help clinicians detect hidden signs of autism in adults.

Autism is usually diagnosed in childhood but a growing number of adults are being diagnosed with the condition, even in mid-to-late adulthood.

Many adults develop compensatory psychological strategies to hide their symptoms from clinicians, employers and even their own families.

These strategies make the developmental condition much harder to diagnose and "performing" to fit into society can place a huge mental strain on the autistic person.

Eloise Stark, 30, a postgraduate student at Oxford University diagnosed with autism three years ago, said the hardest part of being autistic was trying to "hide it," and likened it to wearing a "mask."

Researchers from Cardiff University, King's College London and the University of Bath have now devised the first potential tool to help detect psychological strategies that disguise signs of autism.

In a new study, published today in Molecular Autism, the researchers outline a checklist of 31 compensatory strategies that doctors, psychiatrists and psychologists could look for or ask their clients about.

They developed the checklist by asking autistic people about their experiences of using psychological strategies in everyday social situations.

Dr. Lucy Livingston, who led the research, said: "This allowed us to come up with a checklist of the most frequently-reported 'social scripts, including things like copying gestures and facial expressions of others, learning when to laugh at a joke without understanding why it is funny and deliberately making eye contact, even when it might be really uncomfortable."

Dr. Livingston, a psychology lecturer from Cardiff University's School of Psychology, who has worked with autistic people who received a first diagnosis in adulthood for many years, said the next step would be to test its clinical efficacy.

"At the moment, professionals know very little about these strategies and what to look for. The new tool, if found to be effective, could help clinicians assessing adults for autism who appear to be non-autistic or 'neurotypical' on the surface, particularly those who are highly intelligent," she said.

"Being aware of these strategies should help clinicians to understand how hard the individual could potentially be working to keep up this appearance.”

"Ultimately, this could mean that autistic people receive a more accurate and timely diagnosis."

"This work has the potential to help spot autism in people like myself, who have gone 'under the radar' up to now,”
Eloise said.

"If I had received my diagnosis earlier, I may have avoided years of inappropriate medical and psychological interventions, and I would also have been able to build the positive autistic identity that I enjoy today much earlier."

Dr. Livingston said it might also help clinicians to identify and support those autistic people with additional mental health difficulties experienced as a consequence of "pretending to be normal."

"It could also be used by adults who think they might be autistic or are seeking a diagnosis to help them understand their own behaviour," she added.

About 700,000 people in the UK are living with autism and it is under-diagnosed in females; three times as many males as females are diagnosed.

Senior author Francesca Happé, who is Professor of Cognitive Neuroscience at King's College London, said "Our work is one step towards helping to recognise compensating behaviours that autistic people use, often to avoid bullying and negative responses from neurotypical peers."

"We hope it will aid diagnosis and improve understanding of just how hard many autistic people work to fit in to an often hostile world."


Eloise's story

I am learning to be more authentically autistic and authentically Eloise, even if that means that I sometimes stand out.

The most common response when I tell people that I am autistic tends to be something along the lines of 'well you don't come across as autistic.' This is precisely the point, and often the most burdensome part of living as an autistic woman in 2020; I often try to hide it.

I did not receive my diagnosis until the age of 27, following an arduous battle with anxiety and depression that left me eager for answers as to why I had always felt different, but had tried desperately to fit in throughout my life.

This process of fitting in often revolved around a complex set of rules and algorithms that enabled me to compensate for my inherent lack of a social instinct. Socialising is a bit like being among a crowd of people, and all of a sudden you forget how to walk.

Everyone around you is walking around nonchalantly and you have to think through every aspect of how to put the motor sequence together to stay upright and transition from one foot to the other. That's what it is often like to be autistic but trying to fit in. It takes energy, thought, and even though you might appear to walk just like everyone else, it takes a lot more effort to stay upright and appear normal.

Some things are easy to hide—I learnt implicitly from an early age that you are expected to make eye contact with people. As I grew older, I created algorithms to help scaffold my social behaviour, such as looking away for two seconds at a time for every four sentences of a conversation. I know that if someone makes a joke, I am expected to laugh whether I find it funny or not.

I recently learnt how to code and it struck me that my social brain works a bit like the code itself—input, rule, output. Observe others, see what they do, however odd it seems, and act as they do.

I am learning, however, to be more authentically autistic and authentically Eloise, even if that means that I sometimes stand out. Growing up in a neurotypical world can be hard and I spent much of my teens and twenties trying to fit in and compensate for my autistic quirks, but as I hit my 30th year, it dawned on me that it doesn't really matter whether I do "fit in" and actually, as long as I am flourishing in my own individual way, I can drop the compensation, camouflaging and my 'mask," and that is okay.


Eloise, 30, from Oxfordshire, is currently studying for a DPhil in psychiatry at Oxford University.

Checklist

Using the checklist, the researchers summed up compensatory strategies in 117 adults (58 with autism, 59 without autism) to create numerical compensation scores. They found that participants with an autism diagnosis or those self-reporting higher autistic traits (for example difficulties in reading other people's minds) had higher compensation scores.

Individuals would score 1 (presence of strategy) or 0 (absence of strategy) on each item on the checklist:

- Predict, plan out and rehearse conversations before they happen, out loud or in your head
- Mimic phrases, gestures, facial expressions, tone of voice picked up from other people and/or TV/film/book characters
- Rely on props (e.g., dog, children, interesting object) to structure and guide conversation
- Make appropriate eye contact, even if it is not useful for communication and/or is aversive OR avoid eye contact but give the impression of social interest (e.g., look at bridge of nose, stand at a 90° angle to interaction partner).

The checklist could offer a first step for clinicians to help measure compensatory strategies during autism assessments. It could also help improve awareness of more invisible features of autism to GPs, who are the first port of call for individuals seeking a diagnosis.

The study used a sample that was predominantly comprised of intellectually-able females so the researchers said further work would be needed to establish whether the findings were true of the wider autistic population.

 
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University of California San Diego School of Medicine

Predicting autism risk may soon begin with a drop of blood

UCSD | Neuroscience News | 13 Feb 2020

Study will analyze dried blood spots from newborns for over 1,000 different chemicals and molecules. The presence of some of the molecules may predict autism risk years before symptoms appear, allowing for early treatment and possible prevention.

Within days of birth, a few drops of blood are collected from every newborn in California–and across the United States — which are then stored on filter paper and screened for dozens of genetic and congenital disorders, such as phenylketonuria (PKU), an inherited metabolic disorder that can result in intellectual disability, seizures, heart and behavioral problems.

Researchers at University of California San Diego School of Medicine have launched a Phase II research study to look for signs of another similarly devastating disorder, one that typically does not appear in seemingly healthy children until years later: autism spectrum disorder or ASD.

The UC San Diego Newborn Screening-Autism Risk Study is designed to determine whether the dried and stored blood drops of children later diagnosed with ASD contain within them the tell-tale presence and combinations of biological molecules and environmental chemicals that might predict the risk of a future ASD diagnosis.

We know from the history of certain genetic diseases, such as PKU, that if children can be identified before the first symptoms have appeared, then the disease can be prevented, even though the children have the DNA mutations,” said Principal Investigator Robert Naviaux, MD, PhD, professor of medicine, pediatrics and pathology at UC San Diego School of Medicine. “I believe that over half of autism cases may be preventable if only we had a way to identify the children at risk before the first symptoms appear.”

Naviaux said the new study is important for two reasons: the dramatic rise in diagnosed cases of ASD and increasing evidence that early intervention in children at risk of ASD can significantly improve outcomes.

The prevalence of ASD has risen from 20 in 100,000 births in the 1970s to 1,700 in 100,000 in 2014, according to the U.S. Centers for Disease Control and Prevention — an 84-times increase. Approximately one in 59 children is diagnosed with ASD. Statistics from the U.S. Department of Education and other government agencies indicate autism diagnoses are increasing at the rate of 10 to 17 percent per year.

Changes in diagnostic criteria and reporting practices account for 60 percent of the rise, at most, according to previously published research. “This means that even by the most conservative estimates, the prevalence of ASD has increased at least 34 times,” said Naviaux. The overarching question for Naviaux and others is why? Is it genetics? The environment?

Our genes have not changed significantly in the past 50 years,” said Naviaux. “Single gene mutations play a causal role in approximately 10 percent of ASD cases. The vast majority of ASD cases are idiopathic or of unknown cause, most likely the result of a combination of genes, environmental factors or something yet to be identified.”

More than 1,000 genes can contribute to the risk and resistance a child has to ASD, but more than 95 percent of these genes are common variations also present in asymptomatic parents and children who don’t have ASD,” Naviaux said. “A clue to how the genetics of ASD is misinterpreted is the fact that many of the genes that contribute to ASD are the same genes that contribute to other disorders like schizophrenia and bipolar depression. In most cases, DNA only sets what is possible, not what is destined.”

The new Phase II study will focus on exposure and possible roles of chemicals and compounds (detected in blood) and how they might interact with genes. Researchers will use a blood test developed in Naviaux’s lab to analyze the presence of more than 600 metabolites –typically small molecules produced by metabolism, the life-sustaining chemical reactions in all organisms. Metabolites from amino acids and antioxidants to vitamins and lipids serve diverse, crucial functions, including as fuel, signal carriers, structure providers, defenders and regulators among them.

Earlier research by Naviaux and others has found that persons with ASD appear to have a shared “metabolic signature.” That is, their biological chemistry is comparable, though their genetics are unique.

Testing will also look at more than 400 environmental chemicals in each dried blood drop. Exposure to these chemicals, such as commonly used pesticides, flame retardants, air pollutants, lead, mercury and polychlorinated biphenyls or PCBs, has been linked to several neuro-developmental disorders, including ASD.

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At birth, blood samples are taken from newborns and used to screen for genetic diseases.
New research will help determine whether these drops can also help predict autism risk.


Naviaux and colleagues believe that the majority of ASD symptoms are the result of a treatable metabolic syndrome triggered by persistence activation of the cell danger response (CDR), a natural and universal cellular reaction to injury or stress. Chronic CDR, they suggest, results in disrupted and incomplete healing at the metabolic and cellular levels. In ASD, the consequence may be dysfunctional neural circuits and internal systems, producing autism’s well-documented symptoms and behaviors.

Metabolism is the real-time result of our genes interacting with the environment,” said Naviaux. “Environmental chemical or biotoxin exposures –the ‘exposome’ — at critical developmental windows can produce delayed effects that become apparent only after months or years. By measuring metabolism and the exposome, it may be possible to identify children at risk for developing autism before the first behavioral symptoms appear.”

The study seeks 400 participants between the ages of three and 10 years old, meeting these requirements:

- Born in California
- Have a confirmed diagnosis of ASD from a licensed clinician or be a healthy child not taking any prescription medications (200 participants from each group)
- Born after a normal term pregnancy of 37 to 42 weeks
- Have not had a medical issue that required readmission to the hospital in the first month of life

The study requires parents of participating children to answer questionnaires covering pregnancy, labor and delivery, the child’s health history and that of the family. Consented analyses will be conducted of dried blood drops recorded as part of California’s Newborn Screening program, which began in 1966 and now screens for 80 different genetic and congenital disorders. Blood spots have been saved and stored by the California Department of Public Health since 1982. No new blood tests or behavioral testing will be required for the Phase II study.

Naviaux said he hopes to screen and enroll the full complement of participants by June 2020. Analyses of the identified and retrieved blood spots is expected to be complete by June 2021.

We then hope to expand the testing program to states like New Jersey, New York, Pennsylvania and Washington by enlisting collaborators in each of those states who will be able to apply the new methods we have developed.”

Each new state has slightly different policies and regulations regarding the collection and storage of dried blood spots from universal newborn screening programs, so this medium-scale expansion study will teach us what will be needed to launch a national study.”

For more information on the study or to apply for enrollment, see the study web site.

 
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UCLA

Intelligence, behavior shape adulthood for people with autism

Just two factors assessed in childhood predict how well people with autism will function as adults, according to a new study: intelligence quotient (IQ) and behavioral problems such as hyperactivity.

The ability to predict adult outcomes could enable clinicians to offer autistic children targeted treatments early in life and improve their chances of a better life — to a point.

“Having strong cognitive ability doesn’t promise you a good outcome,” says lead investigator Catherine Lord, distinguished professor of psychiatry and education at the University of California, Los Angeles. "However, for people with a low IQ," she says, “the chances of being independent are very, very slim.”

Lord and her colleagues compiled data on 123 people with autism. The team first assessed the participants during childhood, many before the age of 3, and assessed them again when they were 22 to 27 years old.

“It’s an important study because there aren’t many that have followed up [on] people over this length of time,” says Patricia Howlin, professor emeritus of clinical child psychology at King’s College London in the United Kingdom, who was not involved in the work.

The researchers evaluated the participants on a wide range of factors, including the severity of their autism traits, IQ and the presence of behavioral problems. They also analyzed them in adulthood on their quality of life, such as whether they lived independently, held a job and had friends.

The participants fell into four groups based on their quality of life as adults. Those in the most successful group often lived independently, had a job and maintained multiple friendships. The least successful group typically achieved none of these things. The two middle groups achieved some but not others, and often only to a limited extent.

Predictable outcomes

The people with the highest quality of life had relatively high IQs and few behavioral problems; those with low IQs and severe behavioral problems struggled the most. Those who had either a low IQ or significant behavioral problems, but not both, fell between the two extremes.

“If you have a lot of mental health problems, even if your IQ is high, your chances of being independent are dramatically reduced,” Lord says. “On the other hand, people that may not have as much cognitive ability but are functioning fairly well in terms of mental health can do better than you might think.”

The study has some limitations. Only 21 of the participants are women, and 102 are white. Lord acknowledges the need for larger studies with more diverse representation but says she expects the findings will hold up even in other populations.

Other researchers praised the study’s approach.

“I found the analyses here very convincing,” says Inge-Marie Eigsti, professor of psychological sciences at the University of Connecticut in Storrs. “They predict really an amazing amount of the variance in adult outcomes.”

Early help

The study highlights the importance of giving autistic children support and education that is best suited for their individual needs. Everyday ‘adaptive’ skills, such as getting dressed, following rules and knowing when to go to the doctor, are also crucial for independent living, Lord says.

“There’s a big push to focus more on adaptive skills,” she says. “Adaptive skills can be changed, whereas we’re not good at changing IQ.”

Howlin adds that caregivers and teachers should find domains in which each child is comfortable and build on those, rather than repeatedly trying to teach the child a skill for which she has no aptitude.

“Both cognitive and language profiles in people with autism tend to be very uneven,” Howlin says. “If they’re struggling to write with a pencil but are great with a computer, you use the technology.”

"It is also crucial to find out what the person with autism wants,"
Howlin says.

“The focus has been very much on more normative ideas of what’s a good outcome, whether it’s being in a relationship, having a job [or] living independently,” she says. “These aren’t necessarily the criteria that may be most appropriate for people with autism.”

"An outwardly ‘normal’ life may have hidden disadvantages, such as high stress levels,"
she notes.

Eigsti and her colleagues are tackling this aspect in the Autism Long Term Outcomes Study, asking young adults on the spectrum about their priorities.

"So far," Eigsti says, "what they want is not much different than what any neurotypical person might want."

“They want relationships, they want to have a friend or a close friend or two, and very often they want a romantic relationship,”
Eigsti says. “And they want to have meaningful work.”

https://www.spectrumnews.org/news/intelligence-behavior-shape-adulthood-for-people-with-autism/
 
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Why autism research needs more input from autistic people

by Elle Loughran | Trinity College Dublin | 11 Feb 2020

I am a student and researcher studying evolutionary genetics, and I am autistic. I often come across papers on autism research, but unfortunately, reading them is rarely a positive experience.

Too much autism research fails to acknowledge autistics as people who can read and make valuable contributions to the field. Instead, it casts them as little more than passive study participants or recipients of treatment. This shortsightedness damages research and scientists’ ability to help autistic people.

Reading autism research as an autistic person can feel like being treated as an alien. For example, consider a 2019 paper that stated: “This finding reinforces other work which shows that autistic people can have, maintain, and value close romantic relationships and friendships.” Imagine how bizarre it would be to read that about yourself.

I do not mean to pick on that paper in particular, but on a research culture in which anyone would think that sort of statement needs to be made.

This sort of culture results in seeing top researchers throw around blatantly wrong and offensive ideas about my community. For an old but powerful example, British researcher Simon Baron-Cohen endorsed a quote that suggested autistic individuals experience people at dinner parties as “noisy skin bags” that are “draped over chairs.” In my view, the appropriate response to that is, “No, that is absolutely not how we experience anything. What the hell?” Of course, that would not be an appropriate academic reply.

I understand that even seemingly obvious things need to be examined and tested in science, but if someone were to suggest that the moon is made of cheese, I doubt researchers would insist on disproving it with a study. Yet somehow autistic people must be so strange and unknowable to researchers that they cannot dismiss equally implausible characterizations of us.

In fact, many autistic people are available to answer questions about how we see things. Many of us speak up and share our stories proactively. It can seem to us as if scientists are not listening.

Then there are papers that suggest society would rather fewer people like me existed — and not because they care about my suffering. Or those that survey the prospects of preventing autism, pointing out that these are “high priorities for researchers, parents, advocates, clinicians, and educators.” Why is there is no mention of autistic people on that list?

Integration barriers:

The opportunities for someone like me to correct the culture in autism research are limited.

Often when I see these things in the course of my work, I just sigh and ignore them. If I’m discussing a paper with my scientific peers, I do not want to bring up issues with the paper’s treatment of autism and be seen as an ideologue, research subject or object of pity rather than as a respected colleague.

Other people’s responses can also thwart meaningful exchange. Last summer, I ‘came out’ as autistic while in conversation with an autism researcher and several of her colleagues. The people in the group responded with something along the lines of, “Oh, well, you’re not like other autistic people, so those points do not apply to them.”

If a person’s ability to converse with you makes you assume she is not like ‘real autistics,’ then your idea of autism is automatically going to be ‘people who can’t talk to me.’ You will have a flawed understanding of autism and may not be able to see autistic people as potential colleagues. This risks researchers perceiving autistic people purely as research subjects who do not talk back, have opinions or contribute to the process.

Autistic people are treasure troves of information on their own lives. By including more autistic voices in research, we as scientists could improve our ability to gather knowledge about the condition.

Given the flaws in prevailing theories of autistic psychology, I believe we should encourage more qualitative, open-ended research that seeks input from autistic people and establishes a firmer basis for future studies. We could also seek their help in prioritizing treatment targets. Likewise, if biomedical researchers are going to get funding for studying autism, they must make more of an effort to engage with the autistic community and their wishes.

Things are getting better, and many researchers are doing good work. But listening to autistic people could help them make faster progress. Autistic people are not aliens with whom scientists cannot communicate. We are right here. We are reading what you have to say, and that communication can go both ways.

https://www.spectrumnews.org/opinio...search-needs-more-input-from-autistic-people/
 
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The robots aim to help children with autism in ways humans can’t.

Robot toys could help detect early signs of autism*

USC | Medical Xpress | 18 Feb 2020

Lauren Klein, a computer science Ph.D. candidate in the USC Viterbi School of Engineering, has long been interested in tackling healthcare problems. Her latest approach: robot toys.

"I strongly believe that human-robot interaction is a research topic that is promising for the future of healthcare," said Klein, a member of the USC Interaction Lab.

Last fall, Klein's research team won an award in the "CS for Social Good" white paper competition sponsored by the Computing Community Consortium and Schmidt Futures. Their paper, "A Computational Approach to Earlier Detection and Intervention for Infants with Developmental Disabilities," received a $7,500 grant to support future research.

That team includes her Ph.D. advisor, Maja Matarić; Chan Soon-Shiong Chair, Distinguished Professor of Computer Science, Neuroscience and Pediatrics, and Interim Vice President of Research at USC; Beth Smith, an assistant research professor in the USC Division of Biokinesiology and Physical Therapy; and Fei Sha, associate professor of computer science and biological sciences and Zohrab Kaprielian Fellow in Engineering.

Together, they are researching ways that robots could make a difference in the lives of children with developmental disorders. Their work aims to help earlier diagnose children with conditions ranging from learning disabilities to Autism Spectrum Disorder. Earlier diagnoses, experts say, allow for earlier interventions and better outcomes.

In their paper, Klein, Matarić, Smith and Sha propose using a robot toy to interact with an infant to encourage certain behaviors. These behaviors are known as exploratory motor movements—important infant behaviors such as reaching, touching, grasping and kicking that help them learn to control their bodies and interact with their surroundings. Exploratory movements are believed to be important for healthy cognitive, motor and social development.

"Based on this, we can look for infants who make decreased exploratory movements and design and evaluate interactions that could increase these movements," Klein said. "These interactions are aimed toward children at risk for developmental disabilities, though we anticipate it may be supportive for typically developing infants as well due to the importance of early exploratory motor movements."

The team's past research placed an infant in a chair across from a humanoid Nao robot, which interacted with infants by responding to movement. Whenever the infant kicked their leg, the Nao robot would also kick one of its legs. Twelve infants between the ages of 6 and 8 months participated in this first study, which has been published in a paper titled "Socially Assistive Infant-Robot Interaction: Using Robots to Encourage Infant Leg-Motion."

The study observed that once babies made the connection between their own movement and the movement of the robot, they increased their kicking. Babies at risk for developmental disorders, such as ADHD or ASD, may perform differently in this paradigm. They may demonstrate difficulty learning the connection between their movement and the robot response, supporting its use in early detection. Alternatively, they might respond very well to the robot, supporting its use as an early intervention tool.

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Children with ASD engage more readily with robots rather than humans, because robots
are simple and predictable.

"Our preliminary study gave us a lot of insight, which helped to inform the research proposed in the white paper,"
Klein said.

Klein and her team's white paper outlined how they plan to build upon their current work with the Nao robots and pursue future research, one possible avenue being by exploring the use of Sphero robots in encouraging infant motor movement.

In past studies, the team used the Nao robot platform as an effective socially assistive robot to both provide contingent rewards and allow researchers to evaluate whether infants would imitate the robot, but they had some limitations that Klein's team hope Sphero robots can address. Nao robots cost thousands of dollars, while Sphero robots are much more affordable, at about $150 per robot. Additionally, Nao robots can only move in certain directions, which limits the range of motion that can be encouraged, while Sphero robots can safely roll around the baby, encouraging a wider range of motion while simultaneously engaging the infant's attention more effectively.

Their paper outlines their plan to record interactions between the infant and the robot on video, use software to characterize the movements of the infant's limbs and head, and sort these movements to classify if the infant is at risk for a developmental disability.

Their white paper also proposes analyzing infant-caregiver interaction during play, as social interactions between parent and caregiver are essential to child development. This work is currently ongoing.

"We are analyzing videos of infant-mother interaction with infants at various ages to create computational models of these interactions, and potentially use these models to help characterize infant development and responsiveness in infant-mother communication," Klein said.

"The ultimate goal of our research would be to create an approach for affordable, in-home interventions utilizing socially assistive robots that use play to improve healthy development in young children," Klein said.

Added Smith: "The potential to have a positive impact during infancy and to lay the foundations for a positive developmental trajectory are very exciting to us," Smith said. "We very much appreciate that the award will help us to move its development forward."

 
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Massachusetts Institute of Technology

Striatum, the brain’s reward hub, may drive core autism traits

Restricted interests and repetitive behaviors are hallmarks of autism. They can take many forms: Some autistic people flap their arms or rock back and forth; others ritualistically line up objects or insist on a rigid daily schedule.

Several studies have suggested that repetitive behaviors originate in the striatum, a cluster of neurons in the center of the brain that helps initiate and execute movements. In support of this idea, people who have a damaged striatum show autism traits, including repetitive, inflexible behaviors and various movement problems.

In the past two decades, however, scientists’ understanding of the striatum has expanded, yielding tantalizing hints that the region is involved in the characteristic social difficulties seen in autistic people.

“The common, long-canonical view was that the striatum either excited or inhibited movement,” says Ann Graybiel, professor of brain and cognitive sciences at the Massachusetts Institute of Technology. “But [it] might also be dealing with mood, motivation, approaching good or avoiding bad, reward-based learning — all kinds of things like that.” Autistic people often have problems with mood, motivation or the reward system, all of which may make them uninterested in interactions with others.

The region also appears to be key for learning to make eye contact and discerning which sensory information warrants attention. This new view comes from studies that have traced the striatum’s connections to other parts of the brain, including areas that process sensory information, thoughts, feelings and emotions. And mutations in many genes linked to autism impair the striatum’s structure and function. Studies in animals shore up the evidence: Disrupting neurons in a mouse striatum, for instance, triggers both repetitive behaviors and social problems.

“The more we know, the more we realize it’s much more complicated than the field originally thought,” says David Sulzer, professor of neurobiology at Columbia University.

Striatal pathways

The striatum is part of the basal ganglia — clusters of neurons deep in the center of the brain. The basal ganglia receives signals from the cerebral cortex, which controls cognition and social behavior.

The striatum in particular processes signals from the cortex about desired goals and prompts other neurons in the basal ganglia to initiate actions to achieve those goals. Separately, it also alerts the thalamus — a brain region that processes sensory information and communicates with the cerebral cortex — forming a loop that controls how a person starts and stops an action. The thalamus also sends signals directly to the striatum, in addition to the cortex, so the entire circuit is composed of multiple interconnected loops.

The striatum was first implicated in autism in 1978, when doctors reported widespread “disturbances of motility” in autistic children. These disturbances include rhythmic and tic-like gestures, unusual posture and gait, and ‘striatal toes’ — an unusual upward extension of the big toes. Many of these problems bear a striking resemblance to those seen in people and lab animals with a damaged striatum.

Brain imaging studies, too, support the link between autism and the striatum. For instance, some parts of the striatum are enlarged in people with the condition. The striatum typically shrinks as a child matures, but one report suggests it keeps growing in autistic children and young adults. The enlargement tracks with the severity of repetitive behaviors in children with the condition.

Autistic people also show unusually low activity in the striatum when they complete tasks that offer a social reward. And their striata have unusually weak connections with brain regions involved in processing reward. Difficulties with processing social reward may explain why some people with autism seem to have little interest in social interactions.

Genetic studies of autism implicate the striatum, too. Many of the genes mutated in people with autism are highly expressed in the striatum. And mice with mutations in these genes show alterations in the striatum that resemble those seen in autistic people.

For instance, mice with a mutation in SHANK3, a top autism gene that is highly expressed in the striatum, groom themselves obsessively and have social difficulties. A portion of the striatum is enlarged in these mice and weakly connected to the cerebral cortex, and the neurons show impaired excitatory signaling.

Wiring the brain

Other autism genes may be needed for proper wiring of the striatum. FOXP1, which helps turn other genes on and off, is highly expressed in the striatum. Mice missing a copy of this gene make fewer ultrasonic calls than usual after being separated from their mothers. And some of their striatal neurons fire more easily than usual.

“We think that FOXP1 is really important for setting up the developmental programs that build the striatum,” says lead investigator Genevieve Konopka, associate professor of neuroscience at the University of Texas Southwestern in Dallas. She and her colleagues are now studying a different set of mice, which lack FOXP1 in only their striatal neurons. The team’s unpublished results suggest the gene is critical for the striatum to develop properly.

Sulzer’s team is focusing on another gene called mTOR — which is unusually active in some children with autism — and its role in the developing striatum. Hyperactive mTOR leads to an excess of neuronal connections in the cerebral cortex; Sulzer’s team is exploring whether similar changes occur in the striatum.

"A better understanding of the striatum’s development may help solve a vexing problem facing researchers who study this brain area: Its structure is very complicated, Sulzer says. “Autism is a developmental [condition], so people should be looking at development.”

https://www.spectrumnews.org/news/striatum-the-brains-reward-hub-may-drive-core-autism-traits/
 
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Is an immune disorder at the root of Autism?*

by Moises Velasquez-Manoff | New York Times | 25 Aug 2012

In recent years, scientists have made extraordinary advances in understanding the causes of autism, now estimated to afflict 1 in 88 children. But remarkably little of this understanding has percolated into popular awareness, which often remains fixated on vaccines.

So here’s the short of it: At least a subset of autism — perhaps one-third, and very likely more — looks like a type of inflammatory disease. And it begins in the womb.

It starts with what scientists call immune dysregulation. Ideally, your immune system should operate like an enlightened action hero, meting out inflammation precisely, accurately and with deadly force when necessary, but then quickly returning to a Zen-like calm. Doing so requires an optimal balance of pro- and anti-inflammatory muscle.

In autistic individuals, the immune system fails at this balancing act. Inflammatory signals dominate. Anti-inflammatory ones are inadequate. A state of chronic activation prevails. And the more skewed toward inflammation, the more acute the autistic symptoms.

Nowhere are the consequences of this dysregulation more evident than in the autistic brain. Spidery cells that help maintain neurons — called astroglia and microglia — are enlarged from chronic activation. Pro-inflammatory signaling molecules abound. Genes involved in inflammation are switched on.

These findings are important for many reasons, but perhaps the most noteworthy is that they provide evidence of an abnormal, continuing biological process. That means that there is finally a therapeutic target for a disorder defined by behavioral criteria like social impairments, difficulty communicating and repetitive behaviors.

But how to address it, and where to begin? That question has led scientists to the womb. A population-wide study from Denmark spanning two decades of births indicates that infection during pregnancy increases the risk of autism in the child. Hospitalization for a viral infection, like the flu, during the first trimester of pregnancy triples the odds. Bacterial infection, including of the urinary tract, during the second trimester increases chances by 40 percent.

The lesson here isn’t necessarily that viruses and bacteria directly damage the fetus. Rather, the mother’s attempt to repel invaders — her inflammatory response — seems at fault. Research by Paul Patterson, an expert in neuroimmunity at Caltech, demonstrates this important principle. Inflaming pregnant mice artificially — without a living infective agent — prompts behavioral problems in the young. In this model, autism results from collateral damage. It’s an unintended consequence of self-defense during pregnancy.

Yet to blame infections for the autism epidemic is folly. First, in the broadest sense, the epidemiology doesn’t jibe. Leo Kanner first described infantile autism in 1943. Diagnoses have increased tenfold, although a careful assessment suggests that the true increase in incidences is less than half that. But in that same period, viral and bacterial infections have generally declined. By many measures, we’re more infection-free than ever before in human history.

Better clues to the causes of the autism phenomenon come from parallel “epidemics.” The prevalence of inflammatory diseases in general has increased significantly in the past 60 years. As a group, they include asthma, now estimated to affect 1 in 10 children — at least double the prevalence of 1980 — and autoimmune disorders, which afflict 1 in 20.

Both are linked to autism, especially in the mother. One large Danish study, which included nearly 700,000 births over a decade, found that a mother’s rheumatoid arthritis, a degenerative disease of the joints, elevated a child’s risk of autism by 80 percent. Her celiac disease, an inflammatory disease prompted by proteins in wheat and other grains, increased it 350 percent. Genetic studies tell a similar tale. Gene variants associated with autoimmune disease — genes of the immune system — also increase the risk of autism, especially when they occur in the mother.

In some cases, scientists even see a misguided immune response in action. Mothers of autistic children often have unique antibodies that bind to fetal brain proteins. A few years back, scientists at the MIND Institute, a research center for neurodevelopmental disorders at the University of California, Davis, injected these antibodies into pregnant macaques. (Control animals got antibodies from mothers of typical children.) Animals whose mothers received “autistic” antibodies displayed repetitive behavior. They had trouble socializing with others in the troop. In this model, autism results from an attack on the developing fetus.

But there are still other paths to the disorder. A mother’s diagnosis of asthma or allergies during the second trimester of pregnancy increases her child’s risk of autism.

So does metabolic syndrome, a disorder associated with insulin resistance, obesity and, crucially, low-grade inflammation. The theme here is maternal immune dysregulation. Earlier this year, scientists presented direct evidence of this prenatal imbalance. Amniotic fluid collected from Danish newborns who later developed autism looked mildly inflamed.

Debate swirls around the reality of the autism phenomenon, and rightly so. Diagnostic criteria have changed repeatedly, and awareness has increased. How much — if any — of the “autism epidemic” is real, how much artifact?

YET when you consider that, as a whole, diseases of immune dysregulation have increased in the past 60 years — and that these disorders are linked to autism — the question seems a little moot. The better question is: Why are we so prone to inflammatory disorders? What has happened to the modern immune system?

There’s a good evolutionary answer to that query, it turns out. Scientists have repeatedly observed that people living in environments that resemble our evolutionary past, full of microbes and parasites, don’t suffer from inflammatory diseases as frequently as we do.

Generally speaking, autism also follows this pattern. It seems to be less prevalent in the developing world. Usually, epidemiologists fault lack of diagnosis for the apparent absence. A dearth of expertise in the disorder, the argument goes, gives a false impression of scarcity. Yet at least one Western doctor who specializes in autism has explicitly noted that, in a Cambodian population rife with parasites and acute infections, autism was nearly nonexistent.

For autoimmune and allergic diseases linked to autism, meanwhile, the evidence is compelling. In environments that resemble the world of yore, the immune system is much less prone to diseases of dysregulation.

Generally, the scientists working on autism and inflammation aren’t aware of this — or if they are, they don’t let on. But Kevin Becker, a geneticist at the National Institutes of Health, has pointed out that asthma and autism follow similar epidemiological patterns. They’re both more common in urban areas than rural; firstborns seem to be at greater risk; they disproportionately afflict young boys.

In the context of allergic disease, the hygiene hypothesis — that we suffer from microbial deprivation — has long been invoked to explain these patterns. Dr. Becker argues that it should apply to autism as well. (Why the male bias? Male fetuses, it turns out, are more sensitive to Mom’s inflammation than females.)

More recently, William Parker at Duke University has chimed in. He’s not, by training, an autism expert. But his work focuses on the immune system and its role in biology and disease, so he’s particularly qualified to point out the following: the immune system we consider normal is actually an evolutionary aberration.

Some years back, he began comparing wild sewer rats with clean lab rats. They were, in his words, “completely different organisms.” Wild rats tightly controlled inflammation. Not so the lab rats. Why? The wild rodents were rife with parasites. Parasites are famous for limiting inflammation.

Humans also evolved with plenty of parasites. Dr. Parker and many others think that we’re biologically dependent on the immune suppression provided by these hangers-on and that their removal has left us prone to inflammation. “We were willing to put up with hay fever, even some autoimmune disease,” he told me recently. “But autism? That’s it! You’ve got to stop this insanity.”

What does stopping the insanity entail? Fix the maternal dysregulation, and you’ve most likely prevented autism. That’s the lesson from rodent experiments. In one, Swiss scientists created a lineage of mice with a genetically reinforced anti-inflammatory signal. Then the scientists inflamed the pregnant mice. The babies emerged fine — no behavioral problems. The take-away: Control inflammation during pregnancy, and it won’t interfere with fetal brain development.

For people, a drug that’s safe for use during pregnancy may help. A probiotic, many of which have anti-inflammatory properties, may also be of benefit. Not coincidentally, asthma researchers are arriving at similar conclusions; prevention of the lung disease will begin with the pregnant woman. Dr. Parker has more radical ideas: pre-emptive restoration of “domesticated” parasites in everybody — worms developed solely for the purpose of correcting the wayward, postmodern immune system.

Practically speaking, this seems beyond improbable. And yet, a trial is under way at the Montefiore Medical Center and the Albert Einstein College of Medicine testing a medicalized parasite called Trichuris suis in autistic adults.

First used medically to treat inflammatory bowel disease, the whipworm, which is native to pigs, has anecdotally shown benefit in autistic children.

And really, if you spend enough time wading through the science, Dr. Parker’s idea — an ecosystem restoration project, essentially — not only fails to seem outrageous, but also seems inevitable.

Since time immemorial, a very specific community of organisms — microbes, parasites, some viruses — has aggregated to form the human superorganism. Mounds of evidence suggest that our immune system anticipates these inputs and that, when they go missing, the organism comes unhinged.

Future doctors will need to correct the postmodern tendency toward immune dysregulation. Evolution has provided us with a road map: the original accretion pattern of the superorganism.

*From the article here :
 
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Getting quality autism therapy from thousands of miles away

by Serena Gordon, Healthday | Medical Xpress | 25 Feb 2020

By the time he was 7 months old, John Michael Crawford had been diagnosed with a rare genetic disorder called tuberous sclerosis, associated with a high risk of developmental delays, including autism.

Early intervention programs are believed to help reduce that risk, but these time- and labor-intensive therapies often aren't available in areas of the United States that aren't close to large medical centers.

The Crawfords, from Benton, Ark., live in such an area.

"There are plenty of families who live in places without access to specialists. It's overwhelming when you get the diagnosis, especially when you can't find specialists that can answer questions and teach you," said John Michael's father, Brandon Crawford.

An ongoing trial for a program developed at University of California, Los Angeles seeks to change that with the novel use of technology and developmental intervention therapy for families of children with a high risk of autism that live in rural areas.

Dr. Shafali Jeste, an associate professor at the UCLA Center for Autism Research and Treatment, said, "We're very proficient at making the diagnosis of autism, but families often can't get access to behavioral interventions. But if you can intervene early, you're more likely to change brain development."

Jeste and her research team developed a telemedicine program to offer these families access to clinical trials of behavioral interventions. The new study uses an intensive behavioral intervention called JASPER (for Joint Attention, Symbolic Play, Engagement and Regulation).

"The intervention targets social and nonverbal communication skills. The intervention is parent-mediated. Parents are taught to deliver some of the key active ingredients of the intervention. We want to make parents part of the team," Jeste said.

"John Michael was enrolled in the study around his first birthday," his father said. The boy and his parents took part in the telemedicine intervention for about two years.

Crawford's wife, Mary, an elementary school teacher, did the behavioral therapy sessions with their son. Crawford provided the "technical support." He recorded the therapy sessions, and uploaded them to UCLA. Once the sessions were uploaded, they were reviewed by a UCLA therapist who then provided feedback.

"We used play-based strategies and specific toys, like a car. One strategy is to help him reimagine uses of toys. If you have a car and a toy barn, you could show him how to use a toy barn as a garage instead. You use the things you have access to and teach him how to reimagine those things," Crawford said.

Jeste said one aspect of the therapy is to build the skill of "joint attention."

"This is a skill we often take for granted in typically developing children. You might see a bird, point to it and say bird. A typically developing child would likely make eye contact with you and follow your point, but kids with autism struggle with this. They won't make eye contact; they won't follow your point," Jeste explained.

Crawford said that while the strategies in the intervention were pretty straightforward, it was frustrating at times if their son couldn't grasp a concept. He said therapists are better-trained and can adjust their methods faster than parents can.

He said it also felt a bit unnatural to record play sessions at first, but the family got used to it.

And, it was great to be able to fit the therapy sessions into their lives rather than have to schedule everything else around a therapist's schedule. He said they even did a therapy session on their vacation.

"Our vacation would have been a session we would have had to skip. This made things easier," Crawford said.

John Michael has aged out of the trial now, but shows no signs of having an autism spectrum disorder now.

"He definitely responded to the strategies. I think it did make a difference. My son is not on the spectrum," Crawford said.

Jeste said the use of telemedicine has enabled the researchers to enroll 30 families of children with tuberous sclerosis in the trial. Without telemedicine, they enrolled just three families in their behavioral intervention trial, likely because repeat trips to UCLA just wasn't feasible for many families.

"There are many efforts in the autism research community to deliver more remote delivery models," Jeste said.

Besides including parents in behavioral therapies, telemedicine could be used to bring in other remote providers, like a pediatrician, and train them how to deliver these types of therapy, she noted.

"We need to continue to innovate and develop strategies to improve access to clinical care and research for children and families with neurodevelopmental disabilities," Jeste said.

 
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For the autistic, a place where life still comes at you, but more quietly

by Sarah Maslin Nir | The New York Times | 9 Mar 2020

At LifeTown, Kenneth Kaufman, who has autism, can pay for items in a controlled setting, like at a miniature ShopRite.

A complex in Livingston, N.J., is designed to help people with disabilities practice everyday activities like banking or shopping.

The commotion began just as the teenage boy was to pay for his apple juice. He flapped his hands wildly, tugged at the noise-canceling headphones atop his brown curls and then turned to his mother to deliver a head butt.

The supermarket cashier stood quietly, her smile unwavering as she patiently waited for the boy’s mood to stabilize.

Kenneth Kaufman, 15, has autism, and is something of a regular here in this small grocery store inside LifeTown, a 53,000-square-foot complex dedicated to helping people with autism and other physical and intellectual disabilities to deal with everyday activities.

Roughly a quarter of the space is occupied by a mock village of 15 storefronts, including a “bank” where arriving visitors withdraw $12 to use to buy snacks at a mini ShopRite grocery, or get their nails done at a beauty parlor called Linda’s Salon.

The ShopRite clerk, like other workers in the village, was a trained volunteer who knew that Kenneth, like many with autism, could be exuberant one moment, violent the next, and often sensitive to sounds.

Soon enough, Kenneth calmed down. The clerk took his outstretched dollar and helped him poke a straw into the juice box.

“In any other place, you scream, you jump, you head-butt on occasion, and you will never be accepted there again,” said his mother, Ella Kaufman, a management consultant from Montclair.

She has been bringing her son, who goes by the nickname Kesha, and his sibling, both of whom have autism, to the center since it opened in September. There they try things like shopping, making appointments at a simulated dentist’s office or navigating stoplights and crosswalks on 146 feet of a simulated city street.

“The ability to learn new things is great,” said Ms. Kaufman, as Kesha bounded out of ShopRite toward the movie theater’s old-fashioned marquee. “But the ability to not be an outsider is the biggest thing.

“Here,”
she said, “you are accepted.”

LifeTown also includes a practice kitchen for teaching food prep, a plushly padded playground and a gymnasium.

Each facility offers features catering to the needs of people with autism, who can be hypersensitive to various stimulations. The hardwood gym, for example, has a sound dampening ceiling for children who might otherwise be unable to play basketball because the noise might be a sensory overload.

The $19 million complex is the creation of Rabbi Zalman Grossbaum and his wife, Toba Grossbaum, Jewish education specialists who give demonstrations at local schools to teach things like how to make matzo for Passover, or how to braid a traditional challah.

In 1997, Ms. Grossbaum took a part-time job as a special education instructor, and was struck by the challenges that her struggling students faced and the burden on their families.

“We really felt that these families were lost, they had so many needs, both social, educational and therapeutic, but also they felt very left out of the community, ” Rabbi Grossbaum said. “Because of the exposure that Toba had, we said, ‘We have do something about this.’”

There also seemed to be a disproportionate need in New Jersey: The state has the country’s highest rate of autism, according to the United States Centers for Disease Control and Prevention. One out of every 34 8-year-olds was on the autism spectrum — far exceeding the national average of 1 in 59.

While factors like maternal health, pregnancy at older ages and environmental factors may play a role in the high autism rate, New Jersey’s rates might be artificially high: hypotheses to explain it include more rigorous testing here, better health and education record-keeping and more awareness of the condition, said Suzanne Buchanan, the executive director of Autism New Jersey, a statewide advocacy organization.

The Grossbaums modeled LifeTown after a similar 20,000 square-foot center in Detroit built 15 years ago by an organization for people with intellectual disabilities called Friendship Circle.

In the Livingston center, funded by donations from 2,700 people, according to the couple, there are local touches: Next to a dim room of softly undulating colored lights where visitors can decompress if they get overstimulated is a sandbox full of sand to simulate the state’s beaches and a photo mural of the Jersey Shore.

The couple said they draw inspiration from Rabbi Menachem Mendel Schneerson, the leader of the Lubavitchers who died in 1994 and is known as the rebbe. Forty years ago, Rabbi Schneerson referred to children with intellectual disabilities as “special people,” in his correspondence.

“The rebbe spoke of seeing them as a patient with the hope of being cured, rather than a patient we’ve given up hope on,” Rabbi Grossbaum said. “That makes every difference in the world — that we’ll never give up on them.”

Since they opened the facility, which charges a maximum of $35 per client per visit, the Grossbaums have tried to make it more inclusive for a wider spectrum of people with disabilities. This week, Words, a bookstore in Maplewood, N.J., that employs intellectually disabled people as booksellers, opened a shop in the complex.

And on a recent afternoon, crews were adding a computer with Braille keys next to a new wall covered in fabrics and tactile objects where the blind can explore different sensations. A pool with a long ramp for wheelchairs is under construction.

Dr. Buchanan, of Autism New Jersey, praised the notion of LifeTown, but warned that simulated living experiences are not a panacea for the complex challenges of those with autism. "Practicing in the controlled environment of LifeTown was not enough," she said. "It takes repetition, patience and understanding to expand the benefits to the larger world."

For Jerry DeFrance, an afternoon spent inside the brightly lit and quiet town was a welcome start. His family feeds and dresses the 26-year-old man, and an aide must shadow him constantly for his safety, as he lives with Down syndrome, which makes autonomy difficult.

Yet on a recent Thursday, he pedaled a tricycle by himself, past Linda’s Salon and Sarah Jane florists inside the mock village. When he cycled up to one of the town’s four stoplights, it glowed red, and he braked hard.

“I did it!” Mr. DeFrance said triumphantly.

On the pavement, his caregiver’s eyes widened. “I was so happy, so proud, just to see that,” said Junior Docteur, his aide.

“This place,” Mr. Docteur said. “They need it so much.”

 
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Mutations in top autism gene linked to changes in brain structure

People with mutations in a gene called TBR1 have unusual features in several brain regions, along with autism traits and developmental delay, according to a new study.

TBR1 encodes a protein that is involved in brain development. It controls the expression of several other autism-linked genes that lay out the structure of the cerebral cortex, the brain’s outer layer and locus of higher cognition.

Studies in mice have suggested that deletion or mutation of TBR1 results in structural abnormalities in the brain. The layers of the cerebral cortex in these mice may be disorganized, and connections in the amygdala — a structure involved in processing emotions — may be missing.

However, few studies have examined how TBR1 mutations affect people.

"Mutations in the gene have been linked to intellectual disability and autism, but more subtle features have not been well documented," says lead investigator Sophie Nambot, a clinician who specializes in medical genetics at the Centre Hospitalier Universitaire Dijon Bourgogne in France.

Previous research documented about 13 people with TBR1 mutations, but the reports included minimal information about outward characteristics, and few include brain-scan data, Nambot says.

The new study adds 25 previously unreported individuals to the literature, along with detailed descriptions of their physical, neurological and genetic features. The findings were published in January in the European Journal of Human Genetics.

“It greatly increases the number of individuals and types of mutations in the TBR1 gene that are associated with developmental disorders,” says John Rubenstein, professor of psychiatry at the University of California, San Francisco.

Brain differences

Nambot’s team identified people with TBR1 mutations by contacting national and international health networks, such as GeneMatcher and DECIPHER. They ultimately recruited 25 people, ranging in age from 2 to 29 years, at 22 sites.

Scientists at the centers gathered information about these individuals’ development and autism traits, such as communication difficulties, lack of eye contact and restricted interests.

All 25 have intellectual disability or moderate-to-severe developmental delays; 19 show autism traits.

The researchers also scanned the individuals’ genomes to identify small and large mutations in TBR1. Combining their data with those from previous studies, the team identified 29 different single-nucleotide variants.

"Magnetic resonance images from seven of the people revealed previously unidentified structural differences in their brains," Nambot says. "These differences are in the cerebral cortex; the anterior commissure, a neuronal tract that connects the two hemispheres of the brain; and the hippocampus, an area involved in learning and memory."

In two of the people, the ridges in the cerebral cortex are unusually broad and thick, and in three people, the hippocampus is malformed.

“The hippocampal problems are very likely to affect learning and memory,” says Robert Hevner, director of neuropathology at the University of California, San Diego. "The findings may explain why people with TBR1 mutations have developmental delays," he says. "They also support prior studies suggesting that TBR1 affects a type of cell that helps organize the cortex and the hippocampus during fetal development."

Notably, in all seven people, the anterior commissure is thin or absent.

Research in mice demonstrates a similar phenomenon, says Yi-Ping Hsueh, distinguished research fellow in neuroscience at the Institute of Molecular Biology in Taiwan, who was not involved in the new study. In 2014, Hsueh’s team found the anterior commissure to be partially missing in mice lacking one copy of TBR1, resulting in social and cognitive problems.

"Unlike mouse studies, however, the new study does not quantify volume differences in brain structures, which makes it difficult to gauge what should be considered atypical," Hsueh says.

The researchers caution that their sample is small, especially given the range of TBR1 mutations present. Still, they say, their findings may help scientists classify genetic subtypes of autism.

https://www.spectrumnews.org/news/mutations-in-top-autism-gene-linked-to-changes-in-brain-structure/
 
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Researchers develop method for measuring quality of life for people diagnosed with autism

by Children's Hospital of Philadelphia | Medical Xpress | 23 Mar 2020

A new study led by researchers at Children's Hospital of Philadelphia (CHOP) shows that a set of simple questionnaires can help clinicians and families better evaluate the quality of life of people diagnosed with autism spectrum disorder (ASD). The newly-developed tool is designed for children, adolescents, and adults on the autism spectrum, and early findings show where clinicians can learn more about how to support the needs of autistic individuals by directly asking them these critical questions. The findings were published online this month by the journal Autism Research.

While clinical researchers often focus on measuring diagnostic criteria or behavioral impairments, autistic self-advocates, family members, and community organizations have long called for a greater emphasis on measuring specific and practical areas that, if properly addressed, could then help people on the autism spectrum achieve a better quality of life. Several methods on how to accomplish this have been proposed, but they have not necessarily addressed topics covering a person's entire lifespan or had sufficient data on women and girls.

"Individual studies have examined specific quality of life measurements for people with autism, but we believed there was an opportunity to create an approach that could measure quality of life across multiple areas, in a way that can grow throughout their lifetime as needs change," said Laura Graham Holmes, Ph.D., a postdoctoral researcher at the A.J. Drexel Autism Institute at Drexel University who led the research while she was a postdoctoral fellow at the CHOP Center for Autism Research. "We wanted to be sure this tool encompassed a variety of domains, including physical and mental health, relationships, and subjective well-being, so we could begin to understand on a more nuanced level the struggles and successes that autistic people experience throughout their lives."

The study team developed and tested an autism-specific lifespan quality of life measurement tool, using the National Institutes of Health Parent-Reported Outcomes Measurement Information System (PROMIS) as its foundation. The new tool is named the PROMIS Autism Battery—Lifespan (PAB-L). After reviewing each area and receiving feedback from autistic people and their families as well as autism experts, the tool was administered for autistic children ages 5-13 (reported through parent proxy), adolescents ages 14-17 (parent proxy and/or self-reported), and adults ages 18-65 (self reported) and then results were compared with the general population.

A total of 912 participants completed the tool's surveys online. The study measured feasibility, and participants reported that the survey was easy to understand, covered important topics, and may even change the way an individual or parent manages their autism support programs or clinical care based on the results.

While some individuals reported strengths, on average, people of all ages on the autism spectrum reported greater challenges and lower quality of life compared with their peers without an autism diagnosis. In particular, they reported lower life statisfaction, less social support and more social isolation, were more likely to exhibit emotional distress through symptoms like anger and anxiety, and were more likely to have sleep problems. Women and teenaged girls on the autism spectrum reported higher levels of anxiety and sleep problems than their male counterparts. As this is the first study to use this tool, more work is needed. However, these measurements give researchers an important starting point.

"This study demonstrated that assessing quality of life among patients of different ages and genders is possible, and that it's meaningful," said Judith S. Miller, Ph.D., a psychologist in the Department of Child and Adolescent Psychiatry and Behavioral Sciences, a senior scientist and training director in the Center for Autism Research at CHOP and senior author of the study. "We believe that these findings provide an important foundation to answer some very important questions about how to support the quality of life for people with autism, including those who have been historically under-represented in clinical research."

 
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Patience Agbabi: ‘I’ve read that women are better at hiding it.’

My son was diagnosed with autism at five. Did he inherit it from my misunderstood mother?

by Patience Agbabi | The Guardian | 28 Mar 2020

When my son was diagnosed, I was told the condition was hereditary. Suddenly my late mother’s ‘eccentric, bossy’ personality began to make sense.

Solomon was my first baby. He was loud. He screamed full throttle for an hour until the midwife swaddled him. I knew he was different from the moment I washed his slick dark hair and saw the ecstasy on his face. At home, he’d stare at his ladybird rattle for 15 minutes at a time. He’d gurgle with delight when we sang to him, but scream frenetically at the noise of the Hoover or blender. At postnatal groups, he’d crawl into a corner, alone.

As a toddler, he learned all his times tables from watching a video repeatedly. He adored Thomas The Tank Engine and could quote from it seamlessly. Solomon had hyperlexia, a precocious reading ability. He was exceptional at maths but also an avid reader. He loved words. He’d make up brilliant, onomatopoeic neologisms to describe facial expressions that amused him (an “agarg” was absolute surprise).

Solomon was diagnosed with autism when he was five. Boys are much more likely to receive a diagnosis than girls; the latest male-to-female ratio is close to 3:1. Boys are also diagnosed earlier. We learned during the process that autism is hereditary. We were asked repeatedly: “Is anyone else in your family autistic?”

No, we replied. Because no one we knew was exceptional at maths and obsessive about trains or had sensory issues so extreme that every family outing had to be meticulously planned, avoiding strip lights and hand driers. But I’ve read recently that autism manifests differently in women, that we’re better at hiding it. Now, some episodes in my family history begin to make sense.

In my mid-30s, pre-motherhood, upstairs on a bus in London, I saw a middle-aged black woman shuffling along the pavement. She looked dishevelled but clean, wearing too many layers of clothing. How rare, I thought, to see a black homeless woman. I was mesmerised by her dignity, wondering if she was OK. Then I felt the lightning bolt of recognition, followed by shame at my error. She was my mother.

But who was she? After leaving my father, my brother and me, my mother lived in Nigeria from when I was 10 to 35, rarely visiting the UK. As early as I can remember, my mother struggled to maintain relationships with family, friends and colleagues because, in her words, “They say I’m eccentric. And bossy.” She was inflexible, seeing everything in black and white. Either she fell out with people, or they fell out with her.

When I was 10, my mother and I went on a three-month holiday to Nigeria, where it became apparent that she had cut off most members of her extended family. In her final years, she only had two close friends from her church. So I stepped in to support her, ill-equipped as I was. We were both fiery, and after an argument she’d clam up. I now wonder whether she felt emotions more intensely and withdrawal was her only way of coping.

All my adult life, my mother had a habit of turning up on my doorstep, unannounced. That would be perfectly reasonable, had she not travelled 6,000 miles from Nigeria. I’m not good with spontaneity, so when I opened the door of my studio flat in 2001 to see her, it was like seeing a ghost. I didn’t realise she’d live with me for a year.

A bonus of her long stay was getting to know each other. She opened up about her childhood in Nigeria. “We grew yams and plantains in the backyard. I loved it.” Her face lit up and I could see the girl in her. Then it went and she’d pray. Intensively. Repeatedly. Something was wrong.

She resumed her nursing career. One day, she showed me an essay she was about to submit for a degree module, and I was shocked: the content was sound, but there was a glaring lack of order. In that moment, I saw the world as my mother saw it: chaotic and terrifying. One feature of autism is difficulty in sequencing information and handling sensory stimuli. No wonder her mantra was, “I just want peace.”

My mother dressed for comfort. She wore white clothes to mimic the colour of her church garments, and the fabric had to be soft and loose around the neck. Often, she’d wear clothes inside out, or the label would be sticking up. But maybe the mistakes were deliberate. Maybe she was hypersensitive to labels and seams, a common feature of autism.

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Agbabi with her mother, Helen Agbabi Torufa, in 2013.

She was definitely sensitive about food and an excellent cook. The year she lived in my flat, I savoured her vegan offerings: fried soya chunks, tofu, moi moi (steamed pudding), breadfruit, plantain. She’d always complained about my cooking, everyone’s cooking. I gladly downed tools and let my mother cook for me – apart from Thursdays.

On Thursday, my mother followed a strict daily routine of prayer and weekly dry fasting (no liquids or food), even when she was ill. Once, a fellow church member encouraged her, “Eat, Sister Helen. You are sick.” In that moment, I realised my mother’s interpretation of her faith was more literal than other church members. My mother adhered to rules, no exceptions.

I told myself to stop being so western and judgmental when she spent so much time and energy praying. The church gave her an instant community and a set of rules to live by. I now see her devotion more clearly. It was deep faith; but it was a special interest, too – autistic people often have an unusually deep interest in a subject or activity. It was the intensity of her prayer, her ability to quote chunks of the Bible, the obsession with the church to the exclusion of everything else, that gave her unbridled joy; and, adversely, an inability to predict the effect of her behaviour on others.

She donated thousands of pounds to the church. My brother and I would end up paying off her debts. She was defensive: “I’m giving money in prayer for you and your brother.” She sent money to Nigeria, so people we didn’t know could pray for us. I was furious: she’d rather give hard cash to the church than emotionally engage with her family. But when I look back, maybe prayer was the way she structured her relationships.

By 2007, I had a second son. Whenever I asked my mother to babysit over the years, her eyes filled with terror. She hadn’t excelled at motherhood first time round, so why would she play grandma? Yet I loved her independence, her refusal to tick the right boxes. Would she have ticked the diagnostic boxes for autism?

When my mother died of a stroke in 2014, I discovered a plastic bag overflowing with unopened packets of medication. She had never changed her diet after she was diagnosed with type 2 diabetes. In Nigeria, in the church compound where she collapsed, they told me my mother believed she’d be healed by prayer. Everyone was shocked that a former nurse wouldn’t take life-saving medication. I searched her medical records for clues to her state of mind, but all I found was a question mark around depression.

My mother’s faith both revealed and masked her secret: revealed it through her astonishing intensity and passion; masked it in Nigerian culture, where ostentatious devotion is not unusual. Her stroke might have been prevented had we considered the possibility that her mind was wired differently and been able to get appropriate support. I know the pitfalls of posthumous diagnosis, but I’m convinced my mother was autistic. She wanted relationships but couldn’t maintain them. She wanted peace: she has it now. How many more women are out there struggling, undiagnosed?

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‘Given the right circumstances, being different is a superpower.’

It has also made me revisit the question: “Is anyone else in your family autistic?” Maybe. I have traits myself. As a child, I, too, had hyperlexia, a sensitivity to fabrics and a violent aversion to the texture of certain foods. As an adult, I’ve made a career out of my special interest in poetry, reciting my poems from memory without having to learn them. I’ve been self-employed for 30 years, as I work best solo; and all my life have found transitions so difficult that they have triggered depression. But I enjoy parties with good music and ambient lighting. When I took the online Rdos Aspie quiz (designed for adults to find their Asperger syndrome quotient), I scored 113 aspie, 96 neurotypical: “You seem to have both neurodiverse and neurotypical traits.” So who am I? I like the word “neurocreative” which describes how my brain works and what makes me happy.

And what about Solomon? Now 14, he attends a grammar school with support. He loves big, modern trains and Star Wars. He has moderate auditory sensitivities, loves his food and has a broad diet. He is still good at maths and an avid reader. He is writing a novel that features adults with special powers. He’s autistic; he’s neurocreative, too.

 
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Research on facial expressions challenges the way we think about autism

Autism researchers are starting to think that autistic and non-autistic faces may “speak a different language” when conveying emotion. This could mean the “social difficulties” often associated with autism may, at least partly, result from differences in the facial expressions produced by autistic and non-autistic people. It means we may need to re-think the idea that autistic people have difficulties with expressing their emotions and instead consider that non-autistic people may have trouble reading them.

The ability to read facial expressions is an essential part of nonverbal communication. If you only listen to what a person says and cannot read what their face is telling you, then you may only have half the story. Just think about a time when you said you were “fine”, but your facial expression said otherwise.

Being able to read someone’s facial expression is crucial for good interpersonal relations. If you cannot read someone’s facial expression, it could lead to social responses that are not socially advantageous, advisable or “correct”.

If, for instance, you cannot read someone’s sad expression, you may not provide reassurance, words of comfort or a hug. And if you can’t tell that someone is angry with you from their expression, you may not apologise for your actions. In both cases, this could lead to less successful social interactions and greater social difficulty.

A two-way interaction

According to the National Autistic Society, autism (including Asperger syndrome) is a lifelong developmental condition that affects “how a person communicates with and relates to other people” and the world around them. Many studies have shown that autistic people often have difficulties reading the facial expressions of neurotypical (non-autistic) people. Historically, these difficulties have been framed as a characteristic of autism that leads to social problems.

Our newly published paper argues that this view ignores that social interactions are exactly that – an interaction between individuals. Since interactions are necessarily at least two-way, it’s important that we also think about how well neurotypical people read autistic facial expressions.

The findings from two recent studies suggest that many neurotypical people find it difficult to read and interpret the facial expressions and body movements of autistic people.

So why do neurotypical and autistic people struggle to read each other’s facial expressions? One reason could be that autistic and neurotypical people produce different facial expressions.

Differences in facial expressions

While researchers don’t yet know exactly what is different about the facial expressions produced by these groups, our review of the literature suggests that there may be differences in the appearance, frequency and duration of facial expressions. Of course, not all autistic people are the same and there will be some autistic people who make facial expressions that are really similar to neurotypical expressions. However, in general it seems that autistic and neurotypical faces may convey emotion differently.

When feeling sad, for example, an autistic person might move their face into an expression that would not be used by most neurotypical people – per the video below. Because this expression is different from what a neurotypical person may expect to see, they might not recognise that the autistic person is feeling sad.

Similarly, because the neurotypical person expresses their sadness in a different way from the autistic person, the autistic person might not recognise the neurotypical person’s sadness. In both these scenarios, they might fail to comfort each other and appreciate the response.

Why does this matter?

This means that what have previously been thought of as “social deficits” in autistic people may actually reflect a mismatch in the facial expressions produced by autistic and neurotypical people. This is really crucial as it takes the element of blame away from the autistic person and instead proposes that these difficulties are a product of autistic and neurotypical differences.

There may also be some really promising outcomes of these findings. For instance, in the future, caregivers and clinicians could be trained to “read the language” of autistic facial expressions, leading to a reduction in social interaction difficulties. Since research suggests that autistic expressions may be unique to each individual, these support programmes may need to be personalised to each autistic person.

These findings also have implications for the clinical diagnosis of autism. Currently, Autism Spectrum Disorders are diagnosed via observations of social ability and behaviour by a qualified clinician. Importantly, a non-autistic clinician may evaluate someone as lacking in facial expressions, when, in reality, these expressions are just different to the ones they would produce themselves; a different style of emotional expression is falsely interpreted as a lack of emotional expression.

It may be time to reframe the idea of “social difficulties” in autism and shift away from the idea of “deficit” towards one of “difference” between autistic-neurotypical interactions.

https://theconversation.com/researc...allenges-the-way-we-think-about-autism-134053
 
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LSD as a therapeutic agent for autism

by José Ramón Alonso | Mapping Ignorance | 10 Apr 2006

Treatment of children with autism in the 1960s included shock therapies and many different psychotropic drugs. The results were bad: there was no positive change in those children although the treatments were occasionally maintained for years. Under these circumstances, more powerful drugs were sought and a new substance was considered: lysergic acid diethylamide or LSD. LSD had been synthesized by the Swiss chemist Albert Hofmann in 1938 and five years later, in 1943, in an example of serendipity, he discovered its psychedelic properties. It was an enormously powerful substance and produced an unleashed imagination consisting of “fantastic images, extraordinary shapes and an intense set of colors, as if it were a kaleidoscope.”

Between 1959 and 1974 different groups used lysergic acid diethylamide in children with autism. A detailed study by Freedman and his group appeared in 1962. These researchers gave LSD to 12 children with autism, 10 children and 2 girls, ranging in age from 5 years and 11 months to 11 years and 10 months. They administered the drug orally, in varying doses (50, 100 or 200 μg) at the first hour, upon arrival at school. The study authors noted that the effects of LSD intoxication were patent from 15-30 minutes and lasted from 4 to 5 hours. Some children became flush and their pupils dilated, but neither pulse nor blood pressure showed much change. Other children seemed to be catatonic (strange postures, hands in fixed and strange positions, waxy flexibility of arms). No child ate lunch until the drug effects were over. Freedman et al.’s description included references to greater physical contact, disappearance of mannerisms, and a development of what appeared to be new bodily sensations. Psychic effects were also seen, such as rapid changes in mood, increased anxiety, and signs of visual and auditory hallucinations. Seeing what happened in adults, the authors hoped that LSD would promote some loquacity in nonverbal children but “the hoped for change from muteness to speech did not occur.”

Comparing their results with what was known about adults with schizophrenia – autism was then considered childhood schizophrenia -, and despite this rather positive description, the authors concluded “little hope for its [i.e., LSD’s] success in the treatment of children.” However, other authors were much more positive and, overall, reviewers concluded that the effects of LSD treatment were very promising and could even be considered excellent for the majority of children with autism.

New research began to make things clearer and to break those expectations. Different studies on children with autism saw no improvement in them. In addition, the vast majority of these studies, with our current criteria, which are much more demanding, left much to be desired. There were no controls, variables to be analyzed were not well defined nor were there any objective ways of evaluating possible improvements. The children were observed, without much estimation of their conditions and circumstances, and their reactions recorded in a narrative way. Observers knew that these children had received the medication – it was not a blind study – and no one was evaluating the reliability of their descriptions. Therefore, the data were purely qualitative, the descriptions were subjective, there were possible biases by the expectations of the observers and the reliability, accuracy and validity of such descriptions are unknown. In addition, some of these narratives are difficult to interpret. Neutral or negative results were often exposed in a more favorable light than they possibly deserved. For example, an increase in aggressiveness was described by Bender and her group as “an improvement in that it represented a contact with the environment that was previously ignored.” At present these studies would most likely not be approved for their completion and their results would not pass a peer review and would not be accepted for publication, but that is because science is improving day by day and fifty years have passed.

In those papers ethical issues regarding LSD use in children received barely a mention. Even statements concerning the procurement of parental consent were glaringly brief, or even absent, leaving the question open as to whether the parents of the children involved in those studies were even informed as to the effects of LSD.

In 1969 there were enough studies to publish a first review but the clinical picture of LSD was already severely damaged. The use as recreational drug had generated a very negative publicity and an important social alarm. The patent expired in 1963 and Sandoz ceased manufacturing in 1965, but although samples could still be obtained from the National Institutes of Mental Health (NIMH), bureaucratic barriers were important and the scope of the substance was notorious. The main reason given by researchers working with LSD in children with autism was sad: “all known forms of treatment have been tried unsuccessfully.” The truth is that evidence-based treatments simply did not exist. Pharmacological methods, shock therapies, and psychoanalytic strategies did not make any headway and behavior modification techniques were in their first steps. Today the situation is fortunately different: we have effective procedures for many of the deficits and excesses present in autism including problems of dreams, anxiety, depression or attention deficit. Behavior modification techniques are useful in many children and the best training of therapists and teachers makes clear and definite progress.

A recent paper by Bogenschutz and Ross 4 reviews what is known about the therapeutic uses of LSD. In addition to those studies on children with autism, it has been used in the treatment of alcoholism and other addictions, to relieve existential distress concerning death, particularly in the face of terminal cancer, and, with more limited evidence, to treat mood and anxiety disorders.

Contrary to what was observed for autism, the research that was conducted in the three decades after its discovery strongly suggests that LSD has some clinically relevant effects, particularly in the case of treatment of alcoholism. The studies that have been completed to date are not sufficient to establish efficacy, but the outcomes have been very encouraging, and larger trials are now underway or being planned. Nevertheless, the mechanisms of clinically relevant effects remain poorly understood and we have to remember previous mistakes, do not forget the lessons of those shameful studies and do our work under the highest quality standards.

 
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Cannabis use during pregnancy linked to increased risk of autism in children

The results of what Ottawa researchers suggest is the largest study of its kind have found that children of mothers who reported using cannabis during pregnancy had a 50% increased risk of developing autism spectrum disorder (ASD), compared with children who weren’t exposed to cannabis in utero, even after controlling for confounding factors.

The new results highlight that women who are thinking of using cannabis during pregnancy should be aware of the potential risks of the drug, and talk to a healthcare provider. “In the past, we haven’t had good data on the effect of cannabis on pregnancies,” said Daniel Corsi, PhD, epidemiologist at the Ottawa Hospital and BORN Ontario, which is affiliated with the CHEO Research Institute. “This is one of the largest studies on this topic to date. We hope our findings will help women and their health-care providers make informed decisions.”

Corsi is first author of the team’s paper, which is published in Nature Medicine, and titled, “Maternal cannabis use in pregnancy and child neurodevelopmental outcomes.”

Recreational use of cannabis is now legalized in Canada, and expectant parents may think that cannabis can be used to treat morning sickness. However, legalization of cannabis doesn’t mean it’s safe for people who are pregnant or breastfeeding. Health Canada and the Society of Obstetricians and Gynaecologists of Canada recommend against these populations using cannabis, and health warnings to this effect appear on cannabis packaging.

Cannabinoids, including tetrahydrocannabinol in cannabis, readily cross the placenta and can enter the fetal bloodstream, the authors commented. Human and animal studies suggest that disruption of endocannabinoid signaling may interfere with normal neuronal wiring, and this could have implications for fetal neurodevelopment.

“Exposure to cannabinoids while in utero can disrupt the fetal endogenous cannabinoid signaling system, which has several roles in embryo development.”

While previous studies have indicated that maternal cannabis use during pregnancy is linked with decreased concentration and attention in their offspring, “… data on long-term follow-up of children with exposure to cannabis in utero are currently limited,” the team continued. “There is a need for larger studies that can adequately control for confounding in cannabis-outcome associations.”

“Despite these warnings, there is evidence that more people are using cannabis during pregnancy,”
said Mark Walker, MD, chief of the department of obstetrics, gynecology and newborn care at the Ottawa Hospital, professor at the University of Ottawa, and senior author on the study. “This is concerning because we know so little about how cannabis affects pregnant women and their babies. Parents-to-be should inform themselves of the possible risks, and we hope studies like ours can help.”

To look for any association between cannabis exposure in pregnancy and neurodevelopmental outcomes in childhood, the research team turned to the BORN birth registry, and reviewed data from every birth in Ontario between 2007 and 2012, before recreational cannabis was legalized. Of the half a million women in the study, about 3,000 (0.6 percent reported using cannabis during pregnancy.

The researchers had previously found that cannabis use in pregnancy was linked with an increased risk of preterm birth. In that study, they saw that women who used cannabis during pregnancy often used other substances including tobacco, alcohol, and opioids. So, for the study reported now in Nature Medicine, the researchers specifically looked at 2,200 women who reported using only cannabis, and no other substances, during pregnancy.

Their results showed that babies born to this group still had an increased risk of autism compared with those who did not use cannabis. The incidence of ASD was 4 per 1000 person-years among children exposed to cannabis in pregnancy, compared to 2.42 among unexposed children. “… the primary association between maternal cannabis use and ASD persisted in sensitivity analyses by other substance use, income, and preterm birth,” the team reported.

Interestingly, there was also a tentative link between prenatal cannabis exposure and an increased risk for children developing intellectual disabilities, learning disorders, and ADHD. However, the associations were smaller in magnitude—11–22%—than those between maternal cannabis use and offspring autism, and “did not attain statistical significance at conventional levels are matching and covariate adjustment,” the authors stated.

The researchers don’t know how much cannabis the women were using, how often, at what time during their pregnancy, or how it was consumed. They also noted that while they tried to control for other factors that could influence neurological development, their study showed an association, and could not demonstrate cause-and-effect. “Although findings of an increased risk for childhood neurodevelopmental disorders are of substantive interest, we emphasize a cautious interpretation given the likelihood of residual confounding,” they wrote.

As cannabis becomes more socially acceptable, healthcare researchers are aware that some parents-to-be might think it can be used to treat morning sickness. The Ottawa team suggests that women who are thinking about or currently are using cannabis during pregnancy should talk to their healthcare provider to help make an informed choice about what is best for them and their baby. And while the researchers acknowledged a number of limitations to their study, they nevertheless concluded,

“In this large retrospective cohort, we found that children with mothers who reported cannabis use in pregnancy were at higher risk for ASD diagnosis … Further study is needed on the amount and timing of cannabis use in pregnancy and childhood health outcomes and following the legalization of cannabis in many jurisdictions.”

https://www.genengnews.com/news/can...o-increased-risk-of-autism-in-their-children/
 
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