The risk that an infant with an older sibling with autism also will develop the disorder, previously estimated at between 3 and 10 percent, is substantially higher at approximately 19 percent, a large, international, multi-site study led by researchers at the UC Davis MIND Institute has found. While the study found a combined estimated risk for all participants of nearly19 percent, it found an even more elevated risk of recurrence of over 26 percent for male infants, and over 32 percent for infants with more than one older sibling with autism.

The study is the largest prospective investigation of autism spectrum disorder and sibling recurrence to date. It is published online today and will appear in print in the September issue of the journal Pediatrics.

The study has important implications both for genetic counseling for parents and for referral to early intervention for the infant siblings of children with autism if concerns arise about their development, said Sally Ozonoff, professor of psychiatry and behavioral sciences at the MIND Institute and the study’s lead author.

“This is the largest study of the siblings of children with autism ever conducted,” Ozonoff said. “There is no previous study that identified a risk of recurrence that is this high,” she said.

Autism is a complex disorder that affects a child’s ability to think, communicate, interact socially and learn. The U.S. Centers for Disease Control and Prevention places the incidence of autism at 1 in 110 children born today.

The participants in the study were enrolled in separate studies that are part of the Baby Siblings Research Consortium, an international network supported by Autism Speaks that pools data from individually funded research sites to facilitate the study of infants at high risk of developing autism because they have an older sibling with the condition. There is strong evidence that genetic factors play a critical role in vulnerability for developing autism.

Twelve consortium sites located in the United States and Canada participated in the study, with additional sites as far away as Israel engaged in analyses and interpretation of the data. The study included 664 subjects, infants whose average age at enrollment was 8 months, with two-thirds recruited prior to 6 months of age. The researchers followed the participants’ development until 36 months, when they were tested for autism.

The study subjects were tested using the Autism Diagnostic Observation Schedule (ADOS), an autism diagnostic tool, and the Mullen Scales of Early Learning, which measures nonverbal cognitive, language and motor skills. Of the 664 participants, a total of 132 infants met the criteria for an autism spectrum disorder. Fifty-four received a diagnosis of autistic disorder and 78 received a diagnosis of Pervasive Developmental Delay Not Otherwise Specified, considered a milder form of autism.

More males than females are affected with autism — 80 percent of all affected children are male. The risk to male children held true in the current study. Among the study participants, 26.2 percent of male infants versus 9 percent of female infants were diagnosed with an autism spectrum disorder.

The overall rate of autism spectrum outcomes for all study participants was 18.7 percent. However, there was a significant difference in the recurrence rate based on whether the child had one sibling or more than one sibling with autism. In families with one older child with autism, or simplex families, the rate of incidence was 20.1 percent. Only 37 of the study participants had more than one sibling with autism. But for those families, called multiplex families, the recurrence rate was 32.2 percent.

“It’s important to recognize that these are estimates that are averaged across all of the families. So, for some families, the risk will be greater than 18 percent, and for other families it would be less than 18 percent. At the present time, unfortunately, we do not know how to estimate an individual family’s actual risk,” Ozonoff said.

Ozonoff said that the study’s large size, prospective design, the young age of study participants at enrollment and the gold-standard direct assessment methods used, as well as the geographic diversity of participants, reinforce the accuracy of its findings. The study design also minimized the effects of other factors such as “stoppage,” the tendency of families with a child with autism to stop having children, which would lead to an underestimate of potential recurrence rates. The study accounted for stoppage by studying only families with later-born siblings.

She said that the study has significant family-planning and genetic-counseling implications.

“Parents often ask what their risk of having another child with ASD is and, until now, we were really not sure of the answer,” she said.

The study also highlights the critical importance of routine surveillance and rapid referral for treatment of infant siblings of children with autism. Ozonoff said that it is of paramount importance that primary care professionals monitor these children’s development closely and refer them for early intervention immediately when concerns arise.

In practice guidelines published by the American Academy of Pediatrics in 2007, being a younger sibling of a child with autism is considered a risk factor requiring special developmental evaluation and the current investigation supported that recommendation.

“This study shows that the younger siblings of children with autism spectrum disorders need to be tracked very carefully, and this may require more than the normal surveillance that a pediatrician might typically do,” Ozonoff said. “This should include very explicitly and regularly checking in with parents on whether developmental milestones are being reached.”

Researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital have used a novel method for analyzing brain-scan data to distinguish children with autism from typically developing children. Their discovery reveals that the gray matter in a network of brain regions known to affect social communication and self-related thoughts has a distinct organization in people with autism. The findings will be published online Sept. 2 in Biological Psychiatry.

While autism diagnoses are now based entirely on clinical observations and a battery of psychiatric and educational tests, researchers have been making advances toward identifying anatomical features in the brain that would help to determine whether a person is autistic.

“The new findings give a uniquely comprehensive view of brain organization in children with autism and uncover a relationship between the severity of brain-structure differences and the severity of autism symptoms,” said Vinod Menon, PhD, a professor of psychiatry and behavioral sciences and of neurology and neurological sciences, who led the research.

“We are getting closer to being able to use brain-imaging technology to help in the diagnosis and treatment of individuals with autism,” said child psychiatrist Antonio Hardan, MD, who is the study’s other senior author and an associate professor of psychiatry and behavioral sciences at Stanford. Hardan treats patients with autism at Packard Children’s.

Brain scans are not likely to completely replace traditional methods of autism diagnosis, which rely on behavioral assessments, Hardan added, but they may eventually aid diagnosis in toddlers.

Autism occurs in about one in every 110 children. It is a disabling developmental disorder that impairs a child’s language skills, social interactions and the ability to sense how one is perceived by others.

The study compared MRI data from 24 autistic children aged 8 to 18 with scan data from 24 age-matched, typically developing children. The data was collected at the University of Pittsburgh.

“We jumped at the results,” Menon said. “Our approach allows us to examine the structure of the autistic brain in a more meaningful manner.” The new findings expand scientists’ basic knowledge of the core brain deficits in autism, he added.

The analysis method, called “multivariate searchlight classification,” divided the brain with a three-dimensional grid, then examined one cube of the brain at a time, and identified regions in which the pattern of gray matter volume could be used to discriminate between children with autism and typically developing children.

Instead of comparing the sizes of individual brain structures, as prior studies have done, the new analysis generated something akin to a topographical map of the entire brain. The scientists essentially mapped the autistic brain’s distinct cliffs and valleys, uncovering subtle differences in the physical organization of the gray matter.

Such analysis may be a more useful approach than previous tacks. Earlier studies, for instance, suggested that people with autism may have larger brains in toddlerhood or have a large defect in one brain structure. This study took a different approach and discovered several autism-associated differences in the Default Mode Network, a set of brain structures important for social communication and self-related thoughts. Specific structures that differed included the posterior cingulate cortex, the medial prefrontal cortex and the medial temporal lobes. These findings align well with recent theoretical and functional MRI studies of the autistic brain, which also point to differences in the Default Mode Network, Menon said.

Once Menon and his team had found where the differences in autistic brains were located, they were able to use their analysis to classify whether individual children in the study had autism. They used a subset of their data to “train” the mathematical algorithm, then ran the remaining brain scans through the algorithm to classify the children.

“We could discriminate between typically developing and autistic children with 92 percent accuracy on the basis of gray matter volume in the posterior cingulate cortex,” said Lucina Uddin, PhD, the study’s first author. Uddin is an instructor in psychiatry and behavioral sciences at Stanford.

In addition, the children with the most severe communication deficits, as measured on a standard behavioral scale for diagnosing individuals with autism, had the biggest brain structure differences. Severe impairments in social behavior and repetitive behavior also showed a trend toward association with more severe brain differences.

Menon and his team plan to repeat the study in younger children and to extend it to larger groups of subjects. If the results are upheld, the new method offers the possibility of several applications in autism diagnosis and treatment. For instance, brain scans might eventually help distinguish autism from other behavioral disorders such as attention deficit hyperactivity disorder, or might predict whether high-risk children, such as those with autistic siblings, will go on to develop autism themselves. Brain scanning might also be able to predict what type of deficits will occur in a child with a new autism diagnosis, allowing clinicians to target their treatments to a child’s predicted deficits.

“Scans would likely be used alongside clinical expertise, giving that extra hint from the brain data,” Uddin said.

When such integrated assessments are possible, the researchers hope they will allow clinicians to build detailed profiles of each patient. “We hope we’ll eventually be able to tell parents, ‘Your child will probably respond to this treatment, or your child is unlikely to respond to that treatment,'” Hardan said. “In my mind, that’s the future.”

The criminal justice system (CJS) is failing autistic people, argue researchers at the Autism Research Centre, University of Cambridge, after a survey of lawyers found that an overwhelming majority of their clients were not provided with adequate support or adjustments.

This comes on the back of an Equality and Human Rights Commission report in June 2020 that warned that the CJS is failing those with learning disabilities and autistic people. However, there is almost no research investigating how autistic defendants are being treated within the CJS.

The team set out to fill this gap by conducting a survey of 93 defence lawyers about autistic people they have represented in the last five years to find out about their defendants’ experiences of navigating the CJS. In their study, published today in Autism Research, the researchers found the CJS is failing autistic people.

The study found that only half of autistic people (52%) were considered by the police to be vulnerable adults, even though the law recognises all autistic people as vulnerable.

Over a third (35%) of autistic defendants were not given an ‘appropriate adult’ during police investigations, even though their diagnosis was known to police, and despite all autistic people being entitled under the law to have an appropriate adult present when being interviewed by the police. A further 18% did not have an ‘appropriate adult’ present because their diagnosis was not known to the police.

Appropriate adults act to safeguard the interests and rights of vulnerable defendants by ensuring that they are treated in a just manner and are able to participate effectively during an investigation.

Only a quarter (25%) of autistic people were given ‘reasonable adjustments’, with 38% not given any even though lawyers stated that this would have been beneficial. This is despite all autistic people being entitled to reasonable adjustments under the law. A further 33% did not receive any adjustments because their autism diagnosis was unknown at the time. Of the autistic people whose case went to trial, more than one in five (22%) were not given any reasonable adjustments even though their lawyers stated that this would have been helpful.

Reasonable adjustments, such as using visual aids to assist with communication and allowing extra time to process information, can be made by the police to assist the detainee.

Dr Rachel Slavny-Cross, who led the study, said: “Our research shows quite clearly that autistic adults are not receiving fair treatment within the criminal justice system. Without reasonable adjustments or support, this could place them at a significant disadvantage.”

In just under half of the cases that included a trial by jury (47%), the jury was not informed that the defendant was autistic. 59% of prosecution barristers and 46% of judges or magistrates said or did something during the trial that made them concerned that they did not have an adequate understanding of autism.

Dr Carrie Allison, a member of the research team, said: “It’s vital that jurors are provided with information about a defendant’s autism and its implications, otherwise they are likely to misinterpret atypical behaviour exhibited by the defendant in court. Similarly, judges may fail to take into consideration mitigating factors that might otherwise influence sentencing.”

The study found that lawyers were more likely to be concerned that their autistic clients would engage in self-harm behaviours, compared with their non-autistic clients, and were more likely to report that their autistic clients experienced ‘meltdowns’ as a result of their involvement in the CJS.

Dr Sarah Griffiths. another member of the research team, said: “Autistic adults are particularly vulnerable to mental health problems, such as stress and heightened anxiety, with many autistic people experiencing meltdown and shutdown as a result. This is likely to have shaped their interactions with the criminal justice system and their ability to cope with the stress of being subject to criminal proceedings.”

The study also found that those working within the CJS may be unaware that an individual is autistic, or of the implications of an autism diagnosis. They found that many autistic people do not disclose their diagnosis at the point of police contact or are themselves unaware they are autistic. However, as the study shows, even autistic defendants who disclose their diagnosis are failing to receive reasonable adjustments.

However, a positive finding was that, in cases where their client was found to have committed a crime, 60% of judges saw the defendant’s autism as a mitigating factor, and in these cases the majority of autistic people were given a suspended or reduced sentence.

Professor Sir Simon Baron-Cohen, Director of the Autism Research Centre at Cambridge and a member of the research team, added: “There’s an urgent need across the criminal justice system for increased awareness about autism. The police, lawyers, judges and jurors should be given mandatory training to be aware of how autism affects an individual’s behaviour, so that autistic defendants are treated fairly within the criminal justice system.”

This is Rice University’s Michael Stern. CREDIT Jeff Fitlow/Rice University

 A review of the genetic and biochemical abnormalities associated with autism reveals a possible link between the widely diagnosed neurological disorder and Type 2 diabetes, another medical disorder on the rise in recent decades.

“It appears that both Type 2 diabetes and autism have a common underlying mechanism — impaired glucose tolerance and hyperinsulinemia,” said Rice University biochemist Michael Stern, author of the opinion paper, which appears online in this month’s issue of Frontiers in Cellular Endocrinology.

Hyperinsulinemia, often a precursor to insulin resistance, is a condition characterized by excess levels of insulin in the bloodstream. Insulin resistance is often associated with both obesity and Type 2 diabetes.

“It will be very easy for clinicians to test my hypothesis,” said Stern, professor of biochemistry and cell biology at Rice. “They could do this by putting autistic children on low-carbohydrate diets that minimize insulin secretion and see if their symptoms improve.”

Stern said the new finding also suggests that glucose tolerance in pregnant women may need to be addressed more seriously than it is now.

Stern said he first realized there could be a common link between Type 2 diabetes and autism a few years ago, but he assumed someone else had already thought of the idea.

Stern’s lab, which is located at Rice’s BioScience Research Collaborative, specializes in investigating the genetic interactions associated with genetic diseases like neurofibromatosis, a disorder in which patients are several times more likely to be afflicted with autism and autism spectrum disorders (ASD) like Asperger’s syndrome.

Autism and ASD are neurological disorders that have a strong but poorly understood genetic basis. The U.S. Centers for Disease Control and Prevention estimates that about nine out of 1,000 U.S. children are diagnosed with ASD.

Stern said at least four genes associated with increased frequency in autism are known to produce proteins that play key roles in a biochemical pathway known as PI3K/Tor. Stern said he had been studying a form of abnormal function in the synapses of fruit flies that was remarkably similar to abnormalities observed in rats and mice with defects in a different pathway known as mGluR-mediated long-term depression.

“I had also spent a lot of time thinking about insulin signaling because another project in my lab is an endocrinology project in which we’re studying how key proteins involved in insulin signaling affect the timing of metamorphosis in fruit flies,” Stern said.

From his studies in both areas, Stern knew two things: PI3K/Tor was the major pathway for insulin signals within cells, and insulin could affect synapses in a remarkably similar way to the mGluR defects associated with autism.

“When I read that the incidence of autism was increasing, and combined that with the fact that the incidence of Type 2 diabetes is also increasing, it seemed reasonable that each increase could have the same ultimate cause — the increase in hyperinsulinemia in the general population,” Stern said. “I didn’t do anything with this notion for a few years because it seemed so obvious that I figured everyone already knew this hypothesis, or had tested it and found it was not true.”

Stern said he changed his mind a few months ago when a health care consulting firm asked him to provide input about autism.

“In preparing for this interview, I discovered that gestational diabetes was the most important identified maternal risk factor for autism, but that ‘no known mechanism could account for this,'” Stern recalled. “When I read this, I was speechless. That’s when I realized that this was not obvious to others in the field, so I decided to write this up with the hope that clinicians might become aware of this and treat their patients accordingly.”

In writing the article, Stern said he learned that the role of insulin in cognitive function is becoming more widely accepted.

“I was checking to see if insulin was known to affect synaptic function, and I learned that the nasal application of insulin is already being tested to see if it is beneficial for both Alzheimer’s and schizophrenia.”

Stern said he also found preliminary studies that indicated that low-carb diets were therapeutic for some individuals with autism and ASD.

“Based on what’s already in the literature, insulin needs to be taken seriously as a causative element in autism,” Stern said. “I hope that clinicians will take the next step and put this to a rigorous test and determine how to best use this information to benefit patients.”

We must stop considering the different brain structure of autistic individuals to be a deficiency, as research reveals that many autistics – not just “savants” – have qualities and abilities that may exceed those of people who do not have the condition, according to a provocative article published today in Nature by Dr. Laurent Mottron at the University of Montreal’s Centre for Excellence in Pervasive Development Disorders. “Recent data and my own personal experience suggest it’s time to start thinking of autism as an advantage in some spheres, not a cross to bear,” Mottron said.

Mottron’s research team has strongly established and replicated the abilities and sometimes superiorities of autistics in multiple cognitive operations such as perception and reasoning, as have others. His group includes several autistics, and one of them, Michelle Dawson, is a particular success. Dawson makes major contributions to our understanding of the condition through her work and her judgment. “Michelle challenged my scientific perception of autism,” Mottron explained. Dawson’s insight is the interpretation of autistic strengths as the manifestation of authentic intelligence rather than a kind of trick of the brain that allows them to mindlessly perform intelligent tasks. “It’s amazing to me that for decades scientists have estimated the magnitude of mental retardation based on the administration of inappropriate tests, and on the misinterpretation of autistic strengths,” Mottron added.

“We coined a word for that: normocentrism, meaning the preconception you have that if you do or are something, it is normal, and if autistic do or have it, it is abnormal,” Mottron said. He points out that there’s a strong motivation for this perception, as it is the standard rhetoric of fund raising and grant applications, but that it comes at a cost in terms of how autistics are designated in social discourse. “While state and nonprofit funding is important for advancing our understanding of the condition, it’s exceptional that these tools are used to work towards goals identified by the autistic community itself,” Mottron said, lamenting the fact that many autistics end up working repetitive, menial jobs, despite their intelligence and aptitude to make much more significant contributions to society. “Dawson and other autistic individuals have convinced me that, in many instances, people with autism need more than anything opportunities, frequently support, but rarely treatment,” Mottron said. “As a result, my lab and others believe autism should be described and investigated as an accepted variant within human species, not as a defect to be suppressed.”

Laurent Mottron’s article claims that science should do its part to bring back autistics as members of the human community. His paper goes into more detail about the specific abilities of some autistic individuals, provides a range of real world examples, and offers some personal insights into his collaborations with Michelle Dawson.