M-CHAT does not catch all children with autism in the neonatal high-risk group, shows a study from Karolinska Institutet published in JAMA Network Open. The researchers see a need to supplement the test with other assessment methods.
Children born very prematurely or with complications are screened at the age of two for early signs of autism using the M-CHAT questionnaire. In a new national study, researchers at Karolinska Institutet have investigated how well the test works in this high-risk group. The study includes 2178 children born in Sweden between 2013 and 2019 and compares M-CHAT results with later clinical diagnoses of autism.
The researchers found that the test was highly accurate in ruling out autism, but that many children with autism were still missed. The sensitivity was 62%, while the specificity – the ability to identify children without autism – was 91%. In total, 12% of the children received a positive M-CHAT result and 6% were later diagnosed with autism.
“The results show that M-CHAT works relatively well to rule out autism, but that it does not catch all children who later receive a diagnosis. In this high-risk group, more tools are therefore needed to detect children who need further investigation early,” says Ulrika Ådén, professor at the Department of Women’s and Children’s Health.
Children born extremely prematurely had both the highest proportion of positive test results and the most autism diagnoses. The researchers also saw that girls had fewer positive test results than boys, and that linguistic factors could affect the outcome – the test had higher specificity in families that spoke a Scandinavian language.
“Overall, the study shows that other developmental difficulties, such as motor or sensory problems, can affect how M-CHAT is interpreted. This needs to be taken into account when healthcare works with early screening,” says Ulrika Ådén.
Study raises questions around why female individuals are diagnosed later than males
Photo by Ben Wicks on Unsplash
Autism has long been viewed as a condition that predominantly affects male individuals, but a study from Sweden published by The BMJ shows that autism may actually occur at comparable rates among male and female individuals.
The results show a clear female catch-up effect during adolescence, which the researchers say highlights the need to investigate why female individuals receive diagnoses later than male individuals.
The prevalence of autism spectrum disorder (ASD) has increased over the past three decades, with a high male-to-female diagnosis ratio of around 4:1.
The increase in prevalence is thought to be linked to factors including wider diagnostic criteria and societal changes (eg, parental age), whilst the high male to female ratio has been attributed to better social and communication skills among girls, making autism more difficult to spot. However so far no large study has examined these trends over the life course.
To address this, researchers used national registers to analyse diagnosis rates of autism for 2.7 million individuals born in Sweden between 1985 and 2022 who were tracked from birth to a maximum of 37 years of age.
During this follow-up period of more than 35 years, autism was diagnosed in 78,522 (2.8%) of individuals at an average age of 14.3 years.
Diagnosis rates increased with each five year age interval throughout childhood, peaking at 645.5 per 100,000 person years for male individuals at age 10-14 years and 602.6 for female individuals at age 15-19 years.
However, while male individuals were more likely to have a diagnosis of autism in childhood, female individuals caught up during adolescence, giving a male to female ratio approaching 1:1 by age 20 years.
This is an observational study and the authors acknowledge that they did not consider other conditions associated with autism, such as ADHD and intellectual disability. Nor were they able to control for shared genetic and environmental conditions like parental mental health.
However, they say the study size and duration enabled them to link data for a whole population and disentangle the effects of three different time scales: age, calendar period and birth cohort.
As such, they write: “These findings indicate that the male to female ratio for autism has decreased over time and with increasing age at diagnosis. This male to female ratio may therefore be substantially lower than previously thought, to the extent that, in Sweden, it may no longer be distinguishable by adulthood.”
“These observations highlight the need to investigate why female individuals receive diagnoses later than male individuals,” they conclude.
These findings align with recent research and seem to support the argument that current practices may be failing to recognise autism in many women until later in life, if at all, says Anne Cary, patient and patient advocate, in a linked editorial.
She notes that studies like this are essential to changing the assumption that autism is more prevalent in male individuals than in female individuals, but points out that as autistic female individuals await proper diagnosis, “they are likely to be (mis)diagnosed with psychiatric conditions, especially mood and personality disorders, and they are forced to self-advocate to be seen and treated appropriately: as autistic patients, just as autistic as their male counterparts.”
There’s no scientific evidence that the gut microbiome causes autism, a group of scientists argue in an opinion paper published in the international Cell Press journal Neuron.
They say conclusions from past research that supported this hypothesis – including observational studies, mouse models of autism, and human clinical trials – are undermined by flawed assumptions, small sample sizes, and inappropriate statistical methods.
“Despite what you’ve heard, read, or watched on Netflix, there is no evidence that the microbiome causally contributes to autism,” says first author and developmental neurobiologist Prof Kevin Mitchell from Trinity.
The hypothesis that autism is caused, at least partially, by the gut microbiome stems from the fact that many people with autism suffer from gastrointestinal symptoms.
In addition, the recent rise in autism diagnoses has led some to believe that environmental or behavioural changes are driving an increase in autism, though the authors note there is strong evidence that the rise in diagnoses reflects increased awareness and broadened diagnostic criteria rather than a biological mechanism.
Nevertheless, researchers have pursued the microbiome-autism hypothesis by comparing the gut microbiomes of people with and without autism, by studying mouse models of autism, and by conducting clinical trials involving people with autism. The authors argue that in all of these studies, the results are flawed and unconvincing.
“There’s variability in all three of those areas, and the studies just don’t form a coherent story at all,” says senior author and developmental neuropsychologist Dorothy Bishop of the University of Oxford.
In the most highly cited studies comparing the gut microbiomes of people with and without autism, researchers used sample sizes ranging from 7 to 43 individuals per group, whereas statistical recommendations call for sample sizes in the thousands.
“Autism is not rare, so there’s no reason to be having studies with only 20, 30, or 40 participants,” says co-author and biostatistician Darren Dahly of the University College Cork.
These studies also used varying methods to characterise microbiome composition, which makes their results difficult to compare. And although some studies found differences between the microbiomes of people with autism and controls, these differences were often contradictory—for example, some studies found lower microbial diversity in the guts of people with autism, while others found the opposite.
These differences also disappeared when the studies accounted for other variables, such as diet, or when they compared the microbiomes of children with autism with their neurotypical siblings.
“If anything, there is stronger evidence for a reverse causal effect, in that having autism can affect someone’s diet, which can affect their microbiome,” says Prof Mitchell.
Mouse models of autism that have claimed to show a link between the gut microbiome and autism are also unconvincing, the researchers say, because of behavioural, cognitive, and physiological differences between humans and mice.
“There’s no evidence that ‘autistic-like’ behaviours in mice models have any relevance to autism, and the experiments themselves had methodological and statistical flaws that undermine their claims,” says Prof Mitchell.
Several human clinical trials have tested the microbiome-autism hypothesis by performing faecal transplants or by administering probiotic therapies to people with autism and then monitoring changes in their characteristics. Again, the researchers say that most of these studies used inadequate sample sizes and inappropriate statistical methods that undermine their findings, and many didn’t use a control group or randomisation.
“The consensus across the studies that we surveyed is that when you do the trials properly, you don’t see anything,” says Dahly.
Based on the lack of convincing evidence, and the lack of progress in the field, the researchers argue the hypothesis that the microbiome causes autism has reached a dead end.
“If you accept our message, there’s two ways you can go. One is to just stop working on this area, which is something that we would be quite happy to see,” says Bishop. “But given that realistically, people are not going to stop, they need to at least start doing these studies in a much more rigorous way.”
Researchers at UTHealth Houston are examining the biological effects of prenatal cannabis exposure and its potential impact on foetal brain development. Supported by a $3.7 million grant from the National Institutes of Health and the National Institute on Drug Abuse, the study aims to improve screening tools, public health guidance, and prenatal care strategies for pregnant people who use cannabis.
Led by Laura Goetzl, MD, MPH, a professor in the Department of Obstetrics, Gynecology, and Reproductive Sciences at McGovern Medical School at UTHealth Houston, the five-year grant will fund the study, “Foetal neuronal extracellular vesicle biomarkers of in-utero effects of maternal cannabinoid use and human foetal brain development and neurobehavioral outcomes.”
“In recent years, cannabis use among pregnant women has increased, either recreationally or to help relieve nausea and vomiting during pregnancy,” Goetzl said. “Despite this rise, the effects on a baby’s brain are not well understood. Our hope through this research is that we can better identify risk factors and help health care providers give expecting mothers the best possible guidance.
The study will explore early biological signs, or biomarkers, to show how cannabis exposure influences a baby’s developing brain.
“During pregnancy, small bubbles called neuronal extracellular vesicles travel from the foetus into the mother’s bloodstream,” Goetzl said. “Through studying these small particles, we hope to gain valuable insight into foetal brain development without invasive testing.”
In collaboration with the University of Colorado, the research study will focus on how prenatal cannabis exposure may influence brain growth and neurobehavioral outcomes in children, including their potential for developing attention-deficit/hyperactivity disorder (ADHD) or autism later in life.
The project is supported by the National Institute on Drug Abuse of the National Institutes of Health under award number R01DA060319.
Pretoria, 28 September 2025 – The South African Health Products Regulatory Authority (SAHPRA) wishes to reassure the public that paracetamol remains a safe and recommended option for the relief of pain and fever during pregnancy, when used short-term at recommended doses.
Paracetamol is one of the most widely used medicines globally and has been extensively studied for decades. There is currently no scientific evidence that using paracetamol in pregnancy causes attention-deficit hyperactivity disorder (ADHD) and autism.
SAHPRA will continue to monitor emerging evidence on the safety of paracetamol.
Advice for healthcare professionals
Paracetamol remains a recommended safe treatment for pain or fever in pregnant women. Pregnant women should be reassured that there is no evidence that taking paracetamol during pregnancy causes autism or ADHD in children. Healthcare professionals are encouraged to provide counselling to patients about the side effects of paracetamol, as detailed in the product’s professional information and patient information leaflet (https://pi-pil-repository.sahpra.org.za/).
Advice for healthcare professionals to provide to patients
Pregnant women and those planning a pregnancy should be advised to use paracetamol only when needed and at the lowest effective dose for the shortest possible time. Untreated fever and pain may pose risks to the unborn baby, and it is therefore important to seek treatment if recommended by a healthcare professional. Pregnant women should consult a healthcare professional if pain or fever persists or if they have any concerns about medicine use during pregnancy. Pregnant women should also be advised to avoid combining paracetamol with other medicines without first seeking medical advice.
Report any suspected adverse drug reactions
Healthcare professionals and members of the public are urged to report any suspected adverse drug reactions (ADRs) related to the use of paracetamol and other health products to SAHPRA via the eReporting link available on the SAHPRA website (www.sahpra.org.za) or complete an ADR reporting form accessible via the SAHPRA website and email it to adr@sahpa.org.za. Alternatively, reporting can be done via the Med Safety App, downloadable through Google Play or the Apple App Store.
SAHPRA remains committed to ensuring the safety of medicines available in South Africa and will update the public if new scientific evidence changes current recommendations.
Researchers at Princeton University and the Simons Foundation have identified four clinically and biologically distinct subtypes of autism, marking a transformative step in understanding the condition’s genetic underpinnings and potential for personalised care.
Analysing data from over 5000 children in SPARK, an autism cohort study funded by the Simons Foundation, the researchers used a computational model to group individuals based on their combinations of traits. The team used a “person-centred” approach that considered a broad range of over 230 traits in each individual, from social interactions to repetitive behaviours to developmental milestones, rather than searching for genetic links to single traits.
This approach enabled the discovery of clinically relevant autism subtypes, which the researchers linked to distinct genetic profiles and developmental trajectories, offering new insights into the biology underlying autism. Their results were published July 9 in Nature Genetics.
The study defines four subtypes of autism: Social and Behavioural Challenges, Mixed ASD with Developmental Delay, Moderate Challenges, and Broadly Affected. Each subtype exhibits distinct developmental, medical, behavioural and psychiatric traits, and importantly, different patterns of genetic variation.
Individuals in the Social and Behavioural Challenges group show core autism traits, including social challenges and repetitive behaviours, but generally reach developmental milestones at a pace similar to children without autism. They also often experience co-occurring conditions like ADHD, anxiety, depression or obsessive-compulsive disorder alongside autism. One of the larger groups, this constitutes around 37% of the participants in the study.
The Mixed ASD with Developmental Delay group tends to reach developmental milestones, such as walking and talking, later than children without autism, but usually does not show signs of anxiety, depression or disruptive behaviours. “Mixed” refers to differences within this group with respect to repetitive behaviours and social challenges. This group represents approximately 19% of the participants.
Individuals with Moderate Challenges show core autism-related behaviours, but less strongly than those in the other groups, and usually reach developmental milestones on a similar track to those without autism. They generally do not experience co-occurring psychiatric conditions. Roughly 34% of participants fall into this category.
The Broadly Affected group faces more extreme and wide-ranging challenges, including developmental delays, social and communication difficulties, repetitive behaviours and co-occurring psychiatric conditions like anxiety, depression and mood dysregulation. This is the smallest group, accounting for around 10% of the participants.
“These findings are powerful because the classes represent different clinical presentations and outcomes, and critically we were able to connect them to distinct underlying biology,” said Aviya Litman, a PhD student at Princeton.
Distinct genetics behind the subtypes
For decades, autism researchers and clinicians have been seeking robust definitions of autism subtypes to aid in diagnosis and care. Autism is known to be highly heritable, with many implicated genes.
“While genetic testing is already part of the standard of care for people diagnosed with autism, thus far, this testing reveals variants that explain the autism of only about 20% of patients,” said co-author Jennifer Foss-Feig, a clinical psychologist at the Icahn School of Medicine at Mount Sinai and vice president and senior scientific officer at the Simons Foundation Autism Research Initiative (SFARI). This study takes an approach that differs from classic gene discovery efforts by identifying robust autism subtypes that are linked to distinct types of genetic mutations and affected biological pathways.
For example, children in the Broadly Affected group showed the highest proportion of damaging de novo mutations, while only the Mixed ASD with Developmental Delay group was more likely to carry rare inherited genetic variants. While children in both of these subtypes share some important traits like developmental delays and intellectual disability, these genetic differences suggest distinct mechanisms behind superficially similar clinical presentations.
“These findings point to specific hypotheses linking various pathways to different presentations of autism,” said Litman, referring to differences in biology between children with different autism subtypes.
Moreover, the researchers identified divergent biological processes affected in each subtype. “What we’re seeing is not just one biological story of autism, but multiple distinct narratives,” said Natalie Sauerwald, associate research scientist at the Flatiron Institute and co-lead author. “This helps explain why past genetic studies often fell short – it was like trying to solve a jigsaw puzzle without realising we were actually looking at multiple different puzzles mixed together. We couldn’t see the full picture, the genetic patterns, until we first separated individuals into subtypes.”
Autism biology unfolds on different timelines
The team also found that autism subtypes differ in the timing of genetic disruptions’ effects on brain development. Genes switch on and off at specific times, guiding different stages of development. While much of the genetic impact of autism was thought to occur before birth, in the Social and Behavioural Challenges subtype – which typically has substantial social and psychiatric challenges, no developmental delays, and a later diagnosis – mutations were found in genes that become active later in childhood. This suggests that, for these children, the biological mechanisms of autism may emerge after birth, aligning with their later clinical presentation.
“By integrating genetic and clinical data at scale, we can now begin to map the trajectory of autism from biological mechanisms to clinical presentation,” said co-author Chandra Theesfeld, senior academic research manager at the Lewis-Sigler Institute and Princeton Precision Health.
A paradigm shift for autism research
This study builds on more than a decade of autism genomics research led by Troyanskaya and collaborators. It is enabled by the close integration of interdisciplinary expertise in genomics, clinical psychology, molecular biology, computer science and modelling, and computational biology.
“The Princeton Precision Health initiative uses artificial intelligence and computational modelling to integrate across biological and clinical data,” said Jennifer Rexford, Princeton University provost and Gordon Y.S. Wu Professor in Engineering. “This initiative could not exist without the University’s charitable endowment. Our investments allow experts to collaborate across a range of disciplines to conduct transformative research that improves human health, including the potential for major advances in the diagnosis and treatment of autism made possible in this exciting project.”
“It’s a whole new paradigm, to provide these groups as a starting point for investigating the genetics of autism,” said Theesfeld. Instead of searching for a biological explanation that encompasses all individuals with autism, researchers can now investigate the distinct genetic and biological processes driving each subtype.
This shift could reshape both autism research and clinical care – helping clinicians anticipate different trajectories in diagnosis, development and treatment. “The ability to define biologically meaningful autism subtypes is foundational to realising the vision of precision medicine for neurodevelopmental conditions,” said Sauerwald.
While the current work defines four subtypes, “this doesn’t mean there are only four classes,” said Litman. “It means we now have a data-driven framework that shows there are at least four – and that they are meaningful in both the clinic and the genome.”
Looking ahead
Beyond its contributions to understanding autism subtypes and their underlying biology, the study offers a powerful framework for characterising other complex, heterogeneous conditions and finding clinically relevant disease subtypes. As Theesfeld put it: “This opens the door to countless new scientific and clinical discoveries.”
For years, Florida Tech’s Catherine Talbot, assistant professor of psychology, has worked to understand the sociality of male rhesus monkeys and how low-social monkeys can serve as a model for humans with autism. Her most recent findings show that replenishing a deficient hormone, vasopressin, helped the monkeys become more social without increasing their aggression – a discovery that could change autism treatment.
Currently, the Centers for Disease Control and Prevention report that one in 36 children in the United States is affected by autism spectrum disorder (ASD). That’s an increase from one in 44 children reported in 2018. Two FDA-approved treatments currently exist, Talbot said, but they only address associated symptoms, not the root of ASD. The boost in both prevalence and awareness of the disorder prompts the following question: What is the cause?
Some rhesus monkeys are naturally low-social, meaning they demonstrate poor social cognitive skills, while others are highly social. Their individual variation in sociality is comparable to how human sociality varies, ranging from people we consider social butterflies to those who are not interested in social interactions, similar to some people diagnosed with ASD, Talbot said. Her goal has been to understand how variations in biology and behaviour influence social cognition.
In their paper published in the journal PNAS, Talbot and researchers with Stanford, the University of California, Davis and the California National Primate Research Center explored vasopressin, a hormone that is known to contribute to mammalian social behaviour, as a potential therapeutic treatment that may ultimately help people with autism better function in society. Previous work from this research group found that vasopressin levels are lower in their low-social rhesus monkey model, as well as in a select group of people with ASD.
Previous studies testing vasopressin in rodents found that increased hormone levels caused more aggression. As a result, researchers warned against administering vasopressin as treatment, Talbot said. However, she argued that in those studies, vasopressin induced aggression in contexts where aggression is the socially appropriate response, such as guarding mates in their home territory, so the hormone may promote species-typical behaviour.
She also noted that the previous studies tested vasopressin in “neurotypical” rodents, as opposed to animals with low-social tendencies.
“It may be that individuals with the lowest levels of vasopressin may benefit the most from it – that is the step forward toward precision medicine that we now need to study,” Talbot said.
In her latest paper, Talbot and her co-authors tested how low-social monkeys, with low vasopressin levels and high autistic-like trait burden, responded to vasopressin supplementation to make up for their natural deficiency. They administered the hormone through a nebulizer, which the monkeys could opt into. For a few minutes each week, the monkeys voluntarily held their face up to a nebulizer to receive their dose while sipping white grape juice – a favorite among the monkeys, Talbot said.
After administering the hormone and verifying that it increased vasopressin levels in the central nervous system, the researchers wanted to see how the monkeys responded to both affiliative and aggressive stimuli by showing them videos depicting these behaviors. They also compared their ability to recognize and remember new objects and faces, which is another important social skill.
They found that normally low-social monkeys do not respond to social communication and were better at recognizing and remembering objects compared to faces, similar to some humans diagnosed with ASD. When the monkeys were given vasopressin, they began reciprocating affiliative, pro-social behaviors, but not aggression. It also improved their facial recognition memory, making it equivalent to their recognition memory of objects.
In other words, vasopressin “rescued” low-social monkeys’ ability to respond prosocially to others and to remember new faces. The treatment was successful – vasopressin selectively improved the social cognition of these low-social monkeys.
“It was really exciting to see this come to fruition after pouring so much work into this project and overcoming so many challenges,” Talbot said of her findings.
One of Talbot’s co-authors has already begun translating this work to cohorts of autism patients. She expects more clinical trials to follow.
In the immediate future, Talbot is examining how other, more complex social cognitive abilities like theory of mind – the ability to take the perspective of another – may differ in low-social monkeys compared to more social monkeys and how this relates to their underlying biology. Beyond that, Talbot hopes that they can target young monkeys who are “at-risk” of developing social deficits related to autism for vasopressin treatment to see if early intervention might help change their developmental trajectory and eventually translate this therapy to targeted human trials.
People with an autism diagnosis are at a higher risk of developing Parkinson’s disease early in life, according to a large-scale study from Karolinska Institutet. The researchers believe that the two conditions can share underlying biological mechanisms.
The study, published in JAMA Neurology, is based on registry data from over two million people born in Sweden between 1974 and 1999 who were followed from the age of 20 up to the end of 2022.
The researchers interrogated a possible connection between the neuropsychiatric diagnosis Autism Spectrum Disorder (ASD), which affects an individual’s thought processes, behaviour and interpersonal communication, and early-onset Parkinson’s disease, a condition that affects locomotion and movement.
Possible dopamine involvment
The results show that people with an autism diagnosis were four times more likely to develop Parkinson’s disease than people without such a diagnosis, a correlation that remained when controlling for socioeconomic status, a genetic predisposition for mental illness or Parkinson’s disease and other such factors.
“This indicates that there can be shared biological drivers behind ASD and Parkinson’s disease,” says first author Weiyao Yin at the Department of Medical Epidemiology and Biostatistics. “One hypothesis is that the brain’s dopamine system is affected in both cases, since the neurotransmitter dopamine plays an important part in social behaviour and motion control.”
It is well-known that dopamine-producing neurons are degraded in Parkinson’s disease. Previous studies have also shown that dopamine is possibly implicated in autism, but more research needs to be done to confirm this.
“We hope that our results will eventually help to bring greater clarity to the underlying causes of both ASD and Parkinson’s disease,” says Dr Yin.
Medical checkups are vital
Depression and the use of antidepressants are common in people with autism, as are antipsychotic drugs, which are known for being able to cause Parkinson’s-like symptoms. When the researchers adjusted for these factors, the correlation between ASD and the later development of Parkinson’s disease was less salient, but the risk was still double.
The researchers point out that they only analysed early-onset Parkinson’s disease before the age of 50 and that the average age of participants by the end of the study was 34. The incidence of Parkinson’s disease was therefore very low. Future studies will need to examine if the elevated risk persists into older age.
“The healthcare services need to keep people with ASD – a vulnerable group with high co-morbidity and a high use of psychotropics – under long-term observation,” says last author Sven Sandin, statistician and epidemiologist at the Department of Medical Epidemiology and Biostatistics. “At the same time, it’s important to remember that a Parkinson’s diagnosis before the age of 50 is very rare, including for people with autism.”
There is no significant difference in the effectiveness of how autistic and non-autistic people communicate, according to a new study, challenging the stereotype that autistic people struggle to connect with others.
The findings, published in Nature Human Behaviour, suggest that social difficulties often faced by autistic people are more about differences in how autistic and non-autistic people communicate, rather than a lack of social ability in autistic individuals, experts say.
Researchers hope the results of the study will help reduce the stigma surrounding autism, and lead to more effective communication support for autistic people.
Direct communication
Autism is a lifelong neurodivergence and disability, and influences how people experience and interact with the world.
Autistic people often communicate more directly and may struggle with reading social cues and body language, leading to differences in how they engage in conversation compared to non-autistic people.
Story sharing
The study, led by experts from the University of Edinburgh, tested how effectively information was passed between 311 autistic and non-autistic people.
Participants were tested in groups where everyone was autistic, everyone was non-autistic, or a combination of both.
The first person in the group heard a story from the researcher, then passed it along to the next person. Each person had to remember and repeat the story, and the last person in the chain recalled the story aloud.
The amount of information passed on at each point in the chain was scored to discern how effective participants were at sharing the story. Researchers found there were no differences between autistic, non-autistic, and mixed groups.
Increased awareness
After the task, participants rated how much they enjoyed the interaction with the other participants, based on how friendly, easy, or awkward the exchange was.
Researchers found that non-autistic people preferred interacting with others like themselves, and autistic people preferred learning from fellow autistic individuals. This is likely down to the different ways that autistic and non-autistic people communicate, experts say.
The findings confirm similar findings from a previous smaller study undertaken by the same researchers. They say the new evidence should lead to increased understanding of autistic communication styles as a difference, not a deficiency.
Autism has often been associated with social impairments, both colloquially and in clinical criteria. Researchers have spent a lot of time trying to ‘fix’ autistic communication, but this study shows that despite autistic and non-autistic people communicating differently it is just as successful. With opportunities for autistic people often limited by misconceptions and misunderstandings, this new research could lead the way to bridging the communication gap and create more inclusive spaces for all.
Dr Catherine Crompton, Chancellor’s Fellow at the University of Edinburgh’s Centre for Clinical Brain Sciences
Getting a timely diagnosis of autism spectrum disorder is a major challenge, but new research out of York University shows that how young adults, and potentially children, grasp objects could offer a simpler way to diagnose someone on the autism spectrum.
The team, part of an international collaboration, used machine learning to analyse naturalistic hand movements – specifically, finger motions during grasping – in autistic and non-autistic individuals. Surprisingly, none of the simpler measures, such as time to grasp (reported to be slower in autistic adults), proved to be a reliable predictor.
“Our models were able to classify autism with approximately 85 per cent accuracy, suggesting this approach could potentially offer simpler, scalable tools for diagnosis,” says lead author, Associate Professor Erez Freud of York’s Department of Psychology and the Centre for Vision Research.
“Autism currently affects about one in 50 Canadian children, and timely, accessible diagnosis remains a major challenge. Our findings add to the growing body of research suggesting that subtle motor patterns may provide valuable diagnostic signals – something not yet widely leveraged in clinical practice.”
In addition to social and communication challenges, autism, a neurodevelopmental disorder, can include motor abnormalities which often show up in early childhood. The researchers say testing for these motor movements early could lead to faster diagnoses and intervention.
“The main behaviours markers for diagnosis are focused on those with relatively late onset and the motor markers that can be captured very early in childhood may thus lower age of diagnosis,” says Professor Batsheva Hadad of the University of Haifa, an expert in autism research and a key collaborator in this study.
Autistic and non-autistic young adult participants were asked to use their thumbs and index fingers, which had tracking markers attached, to grasp different blocks of varying size, lift each one and replace it in the same spot, and put their hand back in the starting position. The researchers used machine learning to analyse the participants’ finger movements as they made grasping motions.
Both groups of participants had normal IQ and were matched on age and intelligence. Young adults were used instead of children to rule out any differences in the findings due to delayed development.
The research found that subtle motor control differences can be captured effectively with more than 84% accuracy. The study also showed there were distinct kinematic properties in the grasping movements between autistic and non-autistic participants.
Analysis of naturalistic precision grasping tasks has not typically been used in previous studies, says Freud. Machine learning, however, provides researchers with a powerful new tool to analyse motor patterns, opening new ways to use movement data in the assessment of autism spectrum disorder.
The findings, says Freud, could lead to the development of more accessible and reliable diagnostic tools as well as timely intervention and support that could improve outcomes for autistic individuals in the future.
