Autism can be detected during toddlerhood using a brief questionnaire

Blood Cancer research

New research led by the University of Cambridge suggests that autism can be detected at 18-30 months using the Quantitative Checklist for Autism in Toddlers (Q-CHAT), but it is not possible to identify every child at a young age who will later be diagnosed as autistic. The results are published today in The BMJ Paediatrics Open.

The team at the Autism Research Centre in Cambridge conducted a prospective population screening study of nearly 4,000 toddlers using a parent-report instrument they developed, called the Quantitative Checklist for Autism in Toddlers (Q-CHAT). Toddlers were screened at 18 months and followed up at 4 years.

The Q-CHAT is a revision of the original CHAT first published by the same authors in the 1990s. It retains the key items but includes additional items that examine language development, repetitive and sensory behaviours, as well as other aspects of social communication behaviour. Each of the 25 items contains a range of response options, allowing for the endorsement of a reduced rate of key behaviours. In effect, this ‘dimensionalises’ each item (using a five-point scale of frequency), allowing for variability in responses and a better understanding of the distributions across the specific traits. The revision was motivated by trying to improve on the accuracy of screening toddlers for autism.

In the new research, in phase one, 13,070 caregivers were invited to complete the Q-CHAT about their child at 18-30 months. 3,770 caregivers returned the Q-CHAT, of whom 121 were invited for an autism diagnostic assessment.

In phase two, the sample was followed up when the children were 4, using the Childhood Autism Screening Test (CAST), and a checklist enquiring whether any of the children had been referred or diagnosed with any developmental conditions, including autism. Autism assessments were made using internationally recognized methods.

The sensitivity (the proportion of autistic children correctly identified by the Q-CHAT as being autistic) of the Q-CHAT in predicting autism at phase two is 44%, and the specificity (the proportion of children who are not autistic and who are correctly identified by the Q-CHAT as not being autistic) is 98%. Results also showed that the ‘positive predictive value’ (the proportion whose screened positive on the Q-CHAT who were found to be autistic) is 28%.

This study demonstrates that early detection and diagnosis of autism is possible using the Q-CHAT, since all 11 children who were classified as autistic scored at or above the cut-point of 39. The Q-CHAT did not identify all children during toddlerhood who were later diagnosed with autism at age 4. This likely reflects that some autistic children do not show symptoms of sufficient severity until later in childhood.

In other studies the team have found some autistic people do not receive a diagnosis until their teens or even adulthood, perhaps because family support cushions the need for a diagnosis until social demands increase, for example at transition to secondary school or transition to adulthood.

Dr Carrie Allison, Director of Research Strategy at the Autism Research Centre, and who led the study, said: “This study tells us that autism can be detected during the toddler years, and that other children may only be identified as autistic later. Repeat screening and surveillance across development may be a better approach rather than relying on a single time-point.”

Professor Tony Charman, Professor of Clinical Child Psychology at Kings College London, and a member of the team, said: “Screening for autism in infancy means that children can be fast-tracked into early intervention, which we know can lead to better outcomes for many children. This is an exciting advance because most other autism screening measures in toddlers have not been subject to rigorous population studies of this kind.”

Professor Sir Simon Baron-Cohen, Director of the Autism Research Centre and a member of the team, said: “25 years ago our team was the first to show autism could be screened and diagnosed as young as 18 months of age. This new study shows how our original screening instrument – the CHAT – has been revised into a better instrument – the Q-CHAT, which can pick up children who need an autism diagnosis. Early detection means happier, healthier, children and families because they can be targeted with support.”

Autistic individuals more likely to use recreational drugs to self-medicate

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Autistic individuals more likely to use recreational drugs to self-medicate
Autistic individuals more likely to use recreational drugs to self-medicate


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While autistic individuals are less likely to use substances, those who do so are more likely to self-medicate for their mental health symptoms, according to new research from the University of Cambridge and published today in The Lancet Psychiatry.

There is significant debate about substance use of autistic adolescents and adults. Some studies indicate that autistic individuals are less likely to use substances, whereas others suggest that autistic individuals are at greater risk of substance misuse or abuse. The team at the Autism Research Centre in Cambridge used a ‘mixed methods’ design to consider both the frequency of substance use among autistic individuals, as well as their self-reported experiences of substance use.

Overall, 1,183 autistic and 1,203 non-autistic adolescents and adults (aged 16-90 years) provided information about the frequency of their substance use via an anonymous, online survey; of this group, 919 individuals also gave more in-depth responses about their experiences of substance use.

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Autistic adults were less likely than non-autistic peers to use substances. Only 16% of autistic adults, compared to 22% of non-autistic adults, reported drinking on three or more days per week on average. Similarly, only 4% of autistic adults reported binge-drinking compared to 8% of non-autistic adults.

There were also some sex differences in patterns of substance use: autistic males were less likely than non-autistic males to report ever having smoked or used drugs. In contrast, the team did not find differences in the patterns of frequency of smoking or drug use between autistic and non-autistic females.

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However, despite lower rates of substance use overall, the qualitative findings of the study provide a much less hopeful picture: autistic adults were nearly nine times more likely than non-autistic peers to report using recreational drugs (such as marijuana, cocaine and amphetamines) to manage unwanted symptoms, including autism-related symptoms.

Drugs were used to reduce sensory overload, help with mental focus, and provide routine, among other reasons. Several autistic participants also indirectly referenced using substances to mask their autism. Past research has shown that this behavioural management (also known as ‘camouflaging’ or ‘compensating’) has been linked to emotional exhaustion, worse mental health, and even increased risk of suicide among autistic adults.

Autistic adolescents and adults were also over three times more likely than others to report using substances to manage mental health symptoms, including anxiety, depression, and suicidal thoughts. Several participants specifically noted that they used drugs for self-medication. However, this self-medication was not always viewed as negative by participants, and several noted that using recreational drugs allowed them to reduce the doses of prescribed medications for mental health conditions, which was a welcome change due to the sometimes significant side effects from their prescribed medications.

Another area of concern was the strong association between vulnerability and substance use among autistic teenagers and adults. Previous work from the Cambridge team suggests that autistic adults may be much more likely to have adverse life experiences and be at greater risk of suicide than others. The findings of the new study indicate that autistic individuals are over four times more likely to report vulnerability associated with substance use compared to their non-autistic peers, including dependence/addiction, using drugs to deal with past trauma, and substance use associated with suicide.

In addition, the study identified two new areas of vulnerability not been previously reported: being forced, tricked, or accidentally taking drugs; and childhood use of substances (at the age of 12 years or younger).

Elizabeth Weir, a PhD student at the Autism Research Centre in Cambridge, and the lead researcher of the study, said: “Whether or not the substances currently classed as ‘recreational’ could be used medically remains an open question. It is evident that the current systems of health and social care support are not meeting the needs of many autistic teenagers and adults.

“No one should feel that they need to self-medicate for these issues without guidance from a healthcare professional. Identifying new forms of effective support is urgent considering the complex associations between substance use, mental health, and behaviour management–particularly as camouflaging and compensating behaviours are associated with suicide risk among autistic individuals.”

Dr Carrie Allison, Director of Research Strategy at the Autism Research Centre and a member of the research team, said: “While some of our results suggest lower likelihood of substance use overall, physicians should not assume that their autistic patients aren’t using drugs. Drug use can be harmful so healthcare providers should aim to establish trusting relationships with autistic and non-autistic patients alike to foster frank and honest conversations about substance use.”

Professor Simon Baron-Cohen, Director of the Autism Research Centre and a member of the team, said: “We continue to see new areas in which autistic adults experience vulnerability: mental health, physical health, suicide risk, lifestyle patterns, the criminal justice system, and so on. Substance use is now another area that we need to consider when developing new forms of support for autistic individuals. It is essential that we ensure that autistic people have equal access to high quality social and healthcare that can appropriately support their specific needs; and, unfortunately, it seems clear that our current systems are still not meeting this mark.”

Understanding Autistic Brains with Dr Simon Baron Cohen

Image result for Understanding Autistic Brains with Dr Simon Baron Cohen


The one percent podcast is a show that explores the realities of autistic adulthood. In this episode I’m joined by Dr.Simon Baron-Cohen is professor of psychology and psychiatry and director of the Autism Research Centre at Cambridge University.

In this episode we discuss:

➡️ The concept of the hypersystemiser and its relevance to autistic people.

➡️ How society became more inclusive to autistic people in the world of work and school.

➡️ We round up our chat with a look to the future of STEM.

Women with polycystic ovary syndrome more likely to have a child with autism




Polycystic ovary syndrome

Polycystic ovary syndrome




Women with polycystic ovary syndrome (PCOS) are more likely than other women to have an autistic child, according to an analysis of NHS data carried out by a team at Cambridge University’s Autism Research Centre. The research is published today in the journal Translational Psychiatry.

PCOS affects about one in ten women and is caused by elevated levels of the hormone testosterone. It is associated with fluid-filled sacs (called follicles) in the ovaries, and with symptoms such as delayed onset of puberty, irregular menstrual cycles, and excess bodily hair.

Autism is a condition characterized by difficulties in social interaction and communication alongside unusually narrow interests, a strong preference for predictability, and difficulties adjusting to unexpected change. Some autistic people also have learning difficulties and delayed language, and many have sensory hyper-sensitivity. The signs of autism are evident in childhood even if the diagnosis is not made until later, and occurs in about 1% of the population.

The research team previously published work in 2015 which showed that before they are born, autistic children have elevated levels of ‘sex steroid’ hormones (including testosterone) which ‘masculinise’ the baby’s body and brain. The discovery that prenatal sex steroid hormones are involved in the development of autism is one possible explanation for why autism is diagnosed more often in boys.




The scientists wondered where these elevated sex steroid hormones were coming from, one possible source being the mother. If she had higher levels of testosterone than usual, as is the case in women with PCOS, then some of the hormone might cross the placenta during pregnancy, exposing her unborn baby to more of this hormone, and changing the baby’s brain development.

Using anonymous data from a large database of GP health records, the study looked at 8,588 women with PCOS and their first-born children, compared to a group of 41,127 women without PCOS. The team found that, even after taking into account other factors (like maternal mental health problems or complications during pregnancy), women with PCOS had a 2.3% chance of having an autistic child, compared with the 1.7% chance for mothers without PCOS.

The team stressed that the likelihood of having an autistic child is still very low, even among women with PCOS – but finding this link provides an important clue in understanding one of the multiple causal factors in autism.

The team presented their findings at the International Meeting for Autism Research in 2016, and their findings were replicated in a Swedish study in the same year, adding to the reliability of the result.

The team also conducted two other studies using the same data and found that autistic women were more likely to have PCOS, and women with PCOS were more likely to have autism themselves. This strongly suggests that these two conditions are linked, probably because they both share elevated sex steroid hormone levels.

Adriana Cherskov, the Master’s student who analysed the data, and who is now studying medicine in the US, said: “This is an important piece of new evidence for the theory that autism is not only caused by genes but also by prenatal sex steroid hormones such as testosterone.”

Professor Simon Baron-Cohen, Director of the Autism Research Centre, who supervised the research, said: “This new research is helping us understand the effects of testosterone on the developing fetal brain, and on the child’s later behaviour and mind. These hormonal effects are not necessarily independent of genetic factors, as a mother or her baby may have higher levels of the hormone for genetic reasons, and testosterone can affect how genes function.”

Dr Carrie Allison who co-supervised the research, said: “We need to think about the practical steps we can put in place to support women with PCOS as they go through their pregnancies. The likelihood is statistically significant but nevertheless still small, in that most women with PCOS won’t have a child with autism, but we want to be transparent with this new information.”

Dr Rupert Payne from the University of Bristol Centre for Academic Primary Care, a GP and the expert on the team in using GP health record data for this type of research, said: “Autism can have a significant impact on a person’s wellbeing, and on their parents, and many autistic people have significant health, social care and educational special needs. This is an important step in trying to understand what causes autism. It is also an excellent example of the value of using anonymous routine healthcare data to answer vital medical research questions.”

Autism: ‘hidden pool’ of undiagnosed mothers with condition emerging




Baby and Mother

Baby and Mother




Experts report growing phenomenon of women recognising themselves as they research their children’s disorders

A “hidden pool” of women who have grown up with undiagnosed autism is coming to light as mothers researching their children’s spectrum disorders recognise themselves in their findings.

“There are far more undiagnosed mothers out there than we have ever thought,” said Dr Judith Gould, lead consultant and former director of the Lorna Wing Centre for Autism who developed the first and only female-specific diagnostic tests, and who trains doctors in how to recognise late adult female diagnosis.

“These women are coming to prominence now because there’s more information on autism in girls and women on the internet, so they can research their children and in doing so, diagnose themselves,” said Gould.




Professor Simon Baron-Cohen, founder of the Autism Research Centre at Cambridge University and the Class clinic, dedicated to diagnosing adults with autism, agreed: “[Undiagnosed mothers are] definitely a growing phenomenon. Putting a number on it is impossible but I’m sure it’s a big number because women seeking diagnoses of autism were likely to be dismissed until just a few years ago, because autism in females was thought to be very rare.”