The Autism studies/research thread

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The fluid-filled spaces around the brain's blood vessels need proper waste "clearance" every few hours. When that fails to happen, a baby's risk for autism appears to rise, new research shows.

It's too early to say that trouble within these "perivascular" spaces causes autism, but it seems to be an early marker for the condition, a team from the University of North Carolina (UNC) reports.

"Our findings were striking, given that neuro-radiologists typically view enlarged perivascular spaces as a sign of neuro-degeneration in adults, but this study reported it in toddlers," noted study co-author Dea Garic, a research assistant professor in UNC's department of psychiatry.

In the new study, the UNC team focused on perivascular spaces within the brain.

Because toxins called amyloid plaques (linked to Alzheimer's disease) can build up within these fluid-filled areas, they've long been a target of research in older adults.

Garic and study co-author Mark Shen wondered if they might also play a role in brain health very early in the life span.

As the researchers explained, every six hours cerebrospinal fluid (CSF) pulses through perivascular spaces in the brain, flushing out inflammatory and other waste products that could otherwise hamper brain activity. That waste includes amyloid beta.

This brain-cleansing process is especially active during sleep. And, given that autism and sleep issues often arise together, the UNC team wondered if perivascular spaces might explain why.

From studies in animals and older adults, they already knew that poor sleep can trigger an unhealthy enlargement of perivascular spaces.

Would the same hold true in small kids? To find out, the investigators looked at 870 brain MRIs taken of sleeping children at six, 12 and 24 months of age. These babies were all the younger siblings of kids with autism -- meaning they were already at higher risk of developing the condition.

Kids with enlarged perivascular spaces in their brains before the age of 24 months were 2.2 times more likely to be diagnosed later with autism, compared to kids whose MRIs showed normal-sized perivascular spaces.

Overall, 30% of kids who displayed large perivascular spaces when they were a year old went on to get an autism diagnosis, and nearly half of children later diagnosed with autism displayed enlarged spaces on their MRIs by the age of 2.

In a new study published in Cortex researchers have discovered that autistic adults exhibit a diminished neural response to their own faces compared to neurotypical adults, suggesting unique differences in self-referential processing. This research, using advanced brain imaging techniques, also indicates that these differences are specific to facial recognition and do not extend to how names are processed.

Past research has consistently shown that humans generally have a strong bias towards processing information related to themselves. This self-bias is believed to be crucial for social interactions and building accurate models of the social environment. Intriguingly, autistic individuals were found in previous studies to show potential differences in this self-referential processing.

Given the importance of faces and names in social interactions and their high relevance to oneself, understanding how these are processed differently in autism could provide key insights into the social challenges faced by autistic individuals.

“It has been becoming increasingly clear that there are differences in how individuals with autism process self-related information, and this may be linked to their social and communication difficulties,” explained study author Annabel Nijhof, a researcher at Ghent University. “With a relatively new EEG analysis technique, we could investigate potential brain differences in the response to one’s own name and own face in little more than a minute, between adults with and without autism.”

To delve into this, researchers recruited a total of 58 adults – 31 with an autism diagnosis and 27 neurotypical individuals. However, due to various reasons such as inability to provide the necessary images for the face task, attention check failures, and technical issues, the final participant count was adjusted to 20 autistic and 24 neurotypical individuals for the face task, and 27 autistic and 25 neurotypical individuals for the name task.

The researchers employed a sophisticated brain imaging technique known as Fast Periodic Visual Stimulation with Electroencephalography (FPVS-EEG). This method involves presenting stimuli – in this case, faces and names – at rapid, periodic frequencies, allowing for the measurement of neural responses with a high degree of accuracy.

Participants were shown images of their own faces, faces of a close acquaintance, and faces of strangers, as well as their own name, the name of a close acquaintance, and unfamiliar names. The key was to measure the participants’ brain responses to these different stimuli and compare the patterns between autistic and neurotypical individuals.

In the task involving face recognition, neurotypical adults exhibited a stronger response to their own face compared to faces of acquaintances and strangers. However, autistic adults showed a reduced specific response to their own face, suggesting a unique difference in self-face recognition. This effect was not observed in the task involving name recognition, where both autistic and neurotypical adults showed similar patterns of neural response, primarily exhibiting familiarity effects (stronger responses to familiar names compared to stranger names).

These results imply that the diminished self-specific neural response in autistic individuals is particularly tied to facial recognition, and not to the processing of self-related information in general. This distinction is crucial as it sheds light on the nuanced ways in which social processing might be different for autistic individuals.

“Adults with autism showed a comparable neural response when seeing their own face and that of someone close to them, whereas adults without autism show stronger responses to seeing their own face (a ‘self-bias’),” Nijhof told PsyPost. “Contrarily, neither adults with nor without autism show differences in the neural response to their own or a close other’s name. Thus, there do appear to be self-specific differences in autism, but not across all domains of information processing.”

However, the study is not without its limitations. While the study’s sample size was consistent with similar studies in this field, a more extensive participant base in future research could provide even more robust findings. This research opens the door to further exploration into how autistic individuals process various types of self-related information, which could have significant implications for developing tailored approaches in education and therapy

It is also possible that the distinct neural response to one’s own name, compared to other names, might not be immediately apparent but emerge at later stages of cognitive processing.

No consistent focal brain abnormalities for Asperger Syndrome were detected. The reduced diameters of the mesencephalon in the Asperger group support the hypothesis that the mesencephalon may be involved in the pathogenesis of Asperger Syndrome.

Three quarters of children (76.2%) who were diagnosed with autism also had traits of other neurodivergent neurotypes – including traits associated with Attention Deficit Hyperactivity Disorder (ADHD), learning and motor differences – according to a new study.

The research – led by the University of Glasgow and published in PLOS One – found that more than half (55.6%) of children referred for autism assessment may also meet the diagnostic threshold for ADHD, and certainly have at least some significant ADHD traits. The study only looked at a small selection of possible neurotypes, suggesting the actual number of children with autism and other neurotypes may be higher.

The research showed there was a positive association between the number of neurodivergences detected and an earlier age of referral; and also suggest that neurodivergent females were less likely than males to be identified before the age of five. However, despite clinical overlap and co-occurrence of neurodivergence in children, just 26% of the those in the study with other traits were investigated for an additional underlying diagnosis.

For the study, the researchers evaluated anonymised medical records of children aged between two and 17 years old, who were referred for an autism assessment, using validated questionnaires to assess for neurodivergent traits.

Dr Jason Lang, Clinical Senior Lecturer in Neurodevelopment and Honorary Consultant in Child and Adolescent Psychiatry, said: “This study is extremely important, as it shows how vital it is to have a holistic approach to assessing children, to properly identify possible overlapping neurotypes. As well as better understanding the neurodivergent population as a whole, identifying a child’s precise “make and model” will help provide better and more bespoke support for these children when needed.

Obviously, the opinions of an adult woman with Asperger's or ASD or "mild" or "high functioning" autism or whatever they want to call call it, but I really hate the last two, do not matter. Only the parents of autistic kids who are non verbal and constantly having meltdowns or haven't been potty trained by age 10 matter, and most of the parents regret they even had kids in the first place and would have their kids euthanized if not cured. So much for unconditional love. Meanwhile, people still think only boys can be autistic, girls and women with ASD somehow disappear from the world on our 18th birthday. And if they do acknowledge our existence we're lucky they don't see us as jerks and losers with creepy obsessions with anime or video game characters that are even dangerous and violent, unless we maybe have some kind of unusual skill or talent, as in savant syndrome. When I was a kid my parents didn't like the "temperamental artist" stereotype, but since no one back even knew about how much autism has a broad spectrum they couldn't think of a better description.

I get it, I'm a burden on society and a waste of our rapidly disappearing resources such as food and oxygen. But don't worry, I'm sick right now with what is very possibly acute bronchitis and maybe my lungs will shut down soon, and the local hospital has ignored people until they literally died even when they were in a lot of pain.

A "butterfly effect" may help explain how autism-related genes in DNA get switched on. A new study suggests that, through this complex ripple effect, mutations in genes unrelated to autism end up influencing the activity of genes tied to the disorder.

How does this work? DNA contains genetic material called promoters, which essentially switch genes on and off. Because DNA is twisted and coiled in a 3D shape, these promoters can control genes that are located far away from them in the DNA's sequence. In other words, if you stretched out all the kinks in the DNA, the promoter and genes would be far apart, but introducing folds in the molecule brings them close together. The promoter and the genes it controls form a regulatory "unit" called a topologically associated domain (TAD).

Because of this complex mechanism, someone who doesn't have mutations in autism-linked genes may still develop the disorder due to mutations elsewhere in their genome — in promoters. That's the idea explored in the new study, published Friday (Jan. 26) in the journal Cell Genomics.

Autism is highly heritable — it's estimated that between 40% and 80% of cases are tied to genes passed down through families. However, autism can also be caused by mutations that spontaneously arise in DNA.

Such mutations have recently been discovered in "non-coding" regions of DNA, which comprise about 98.5% of the genome. These regions include promoters and are known as "non-coding" because they don't contain instructions to build proteins, like genes do.

Until now, little was known about how mutations in non-coding DNA impact someone's likelihood of having autism spectrum disorder (ASD). The new study begins to address that question.

The study authors analyzed the genomes of more than 5,000 people with autism, along with those of their siblings who didn't have the condition and acted as a comparison group. The team were specifically looking for the presence of non-heritable mutations. They used specialized techniques to capture the 3D configuration of the genome and define TAD boundaries around autism-linked genes.

The team found a direct association between autism and TAD-related gene regulatory mechanisms — specifically TADs that contain genes known to be linked to autism.

Takata likened this to a physics phenomenon known as the "butterfly effect," in which a slight change in the initial state of a complex system makes a big difference later on.

Similarly, a subtle mutation in a promoter can have big impacts on gene expression elsewhere.

Unveiling a compelling narrative of mortality among those with Autism Spectrum Disorder (ASD), a population-based cohort study conducted in Taiwan has shed light on differential mortality rates between individuals with ASD and those without. The study, which drew upon data from Taiwan's National Health Insurance Research Database and the National Death Registry, involved a considerable cohort of 75,946 patients with ASD and an equal number of matched controls.

Findings from the study indicate that individuals with ASD had a higher mortality rate for all causes of death compared to the non-ASD cohort, with an adjusted hazard ratio of 1.64. This points to a significantly increased risk of mortality for individuals with ASD, regardless of the cause of death. The nuances of this risk, however, reveal a complex interplay of factors, including gender and intellectual disability.

The study found that the association between comorbid intellectual disability (ID) and increased mortality risk was stronger in female patients with ASD than in male patients. This suggests a gender-based differential in the way ASD and intellectual disability interact, leading to an increased risk of mortality. Furthermore, natural causes of death were significantly higher among the ASD population with ID as compared to those without ID, reinforcing the impact of intellectual disability on mortality rates.

Now, researchers at the Azrieli Faculty of Medicine of Bar-Ilan University (BIU) in Safed have identified a potential link between ASD and the composition of the gut microbiome – the collection of all microbes, including viruses, bacteria, fungi, and the genes that naturally live on and inside our bodies. Although microbes are so small that they require a microscope to see them, they contribute to human health and wellness in significant ways.

The researchers analyzed the diversity of the gut microbiome in a group of 96 Israelis who had been diagnosed with ASD and 42 people who did not suffer from ASD. Their findings, recently published in the journal Biofilms and Microbiomes under the title “Bacteroides is increased in an autism cohort and induces autism-relevant behavioral changes in mice in a sex-dependent manner” point to significant differences in both alpha and beta diversity in individuals with ASD. They identified specific types of bacteria that are found in a higher abundance in people with ASD.

Their major discoveries include an unexpected increase in alpha diversity – a measure of microbial diversity – and a significant rise in the relative abundance of the phylum Bacteriodetes and the genus Bacteroides in those with ASD. Bacteroides is a time of bacteria that can function without oxygen.

Traditionally, decreased alpha diversity has been associated with compromised health in various conditions, but the increased alpha diversity observed in the ASD cohort challenges prevailing notions, especially considering its potential connection to neurological diseases. Bacteroides, normally found in the human gut microbiome, may have a harmful impact on health when they become abundant.
To investigate the potential functional consequences of these microbiome changes, the researchers conducted experiments on newborn mice. Those treated with Bacteroides fragilis at birth exhibited social behavior dysfunction, increased repetitive behaviors, and gene expression dysregulation.

Different effects in male and female mice
Our research suggests that an overabundance of Bacteroides, particularly in early life, may have functional consequences for individuals with ASD. This sheds new light on the complex interplay between the microbiome and neurodevelopment in individuals with ASD,” said the study’s lead researcher, Prof. Evan Elliott, of Bar-Ilan University’s Azrieli Faculty of Medicine. The study was conducted in collaboration with Prof. Omry Koren, a microbiome expert at the Azrieli Faculty.

Intriguingly, these effects were observed primarily in male mice, with female mice showing no behavioral deficits, suggesting that males may be more susceptible to environmental factors contributing to ASD. The research underscores the importance of further investigation into the sex-specific aspects of ASD and the potential role of microbial composition.

Elliott’s research into mechanisms between microbiome dysbiosis and autism behavior is now receiving international recognition and a significant boost. The Eagles Autism Foundation, established by the Philadelphia Eagles football team, has just announced that Elliott’s work is among 34 projects specializing in cutting-edge autism research and care that will receive a total of $6.2 million in funding.

Marvel Biosciences Corp. (TSXV: MRVL) (OTCQB: MBCOF), and its wholly owned subsidiary, Marvel Biotechnology Inc. (collectively the "Company" or "Marvel"), today reported promising interim results from its study on MB-204, a new treatment for autism, conducted by the iBrain Institute in Tours, France. The study demonstrated that a single oral dose of MB-204 can restore social interaction behaviors to normal levels in autism model mice, with notable improvements in cognitive function, an advancement that could signify a pivotal shift in autism therapy.

In collaboration with Dr. Julie Le Merrer and Dr. Jerome Becker, the study investigated the effects of MB-204 on socialization and cognition in the Oprm1 mouse model of autism. Results have been very promising: MB-204 not only fully restored social deficits at a single oral dose as low as 1 mg/kg but also enhanced certain social behaviors beyond normal levels at a 2.5 mg/kg oral dose. These unexpected findings indicate a substantial potential of MB-204 to address the core symptoms of autism.

A study in Germany found that autistic adults tend to be more generous towards strangers compared to people without this disorder. In a task where they had to divide money between individuals, they were more prone to split the money equally regardless of how close they felt to the person they were sharing the money with. The research was published in the journal Autism.

The abilities to cooperate with others and share resources is one of the hallmarks of human society. It is a trait at the very foundation of the human civilization, so important that scientists studying ancient humans often interpret signs of resource sharing and cooperation as signs of a developed civilization.

However, humans typically exhibit reluctance to share their resources equally with everyone. Generosity among humans tends to diminish as social distance increases. While individuals might share everything with their family, their readiness to share with those they are less close to decreases significantly and may vanish entirely with strangers.

This behavior is known as social discounting. Although personality traits such as altruism and empathy can lead to greater generosity towards strangers, social discounting remains prevalent even among highly empathetic and altruistic individuals.

In their new study, Paul A.G. Forbes and his colleagues wanted to investigate the phenomenon of social discounting in autistic individuals. They were particularly interested in determining whether the framing of situations would influence the generosity of autistic individuals towards others, depending on their social distance.

The study included 28 autistic individuals and 25 non-autistic participants, matched for age and gender, with an average age of 30 years. The non-autistic group was generally more educated, with 76% holding a university degree, compared to 32% in the autistic group.

Participants were asked to complete a social discounting task, which began with an explanation of social distance, referring to how emotionally close someone is to the participant. A scale was displayed on a screen showing figures at various distances from the participant’s avatar, indicating different levels of social distance. The researchers told the participants to imagine that the distance of that figure from their avatar on the picture represents how socially distant that person is from them.

Participants then completed a series of tasks where they had to decide how to distribute money between themselves and that other figure. In the “gain scenario,” they could split the money equally or keep a larger share for themselves, leaving the other with nothing. In the “loss prevention scenario,” they were informed that the other person already possessed 75 EUR, and they could choose to receive another 75 EUR for themselves, leaving the other’s amount unchanged, or obtain a larger sum for themselves, resulting in the other person losing their 75 EUR.

The researchers varied the difference in monetary gain between equitable distribution and choosing a larger share for oneself, referring to this difference as “money forgone.” For example, if splitting equally gives the participant 75 EUR and taking a larger amount (while giving nothing to the other) yields 115 EUR, this means that a participant choosing to split has forgone 40 EUR (115 EUR – 75 EUR = 40 EUR).

Results showed that the average amount of money forgone decreased with increasing social distance. In other words, the more socially distant the other figure was, the more likely participants were to take a larger amount for themselves while giving nothing to the other person. While this trend was present in both autistic individuals and those without autism, it was much less pronounced in autistic individuals. Individuals with autism tended to be more generous towards people they did not see as close to them.

Individuals without autism were also more affected by framing. In a situation where the decision could result in a gain for the other person, individuals without autism were much more likely to not give the other anything (i.e., were less inclined to forgo money) compared to autistic individuals. These individuals were more likely to forgo money if not doing that would create a loss for the other person. This difference in forgone money in the two situations was present in autistic participants as well, but it was very slight.

The study sheds light on differences in social decision-making between autistic individuals and people without this disorder. However, it should be noted that the number of participants of this study was very small. Additionally, the decisions made involved small amounts of money and imaginary figures. Results might not be the same if decisions involved more substantial amounts of money and real people.

So this stuff is basically just alcohol, then?