1. Study looks at effects of cognitive behavior therapy on parents of children with autism

    August 17, 2017 by Ashley

    From the York University press release:

    Parents of children with autism experience a greater impact from their child’s therapy than once thought, according to new research out of York University’s Faculty of Health.

    Jonathan Weiss, Associate Professor in the Department of Psychology, Faculty of Health and CIHR Chair in Autism Spectrum Disorders (ASD) Treatment and Care Research, discovered that parents who participate in cognitive therapy with their children with autism also experience a real benefit that improves the family experience.

    Approximately 70 per cent of children with autism struggle with emotional or behavioural problems, and may benefit from cognitive behaviour therapy to improve their ability to manage their emotions.

    “Most of the time when parents bring in their kids for cognitive behaviour therapy, they are in a separate room learning what their children are doing, and are not being co-therapists,” said Weiss. “What’s unique about what we studied is what happens when parents are partners in the process from start to finish. Increasingly we know that it’s helpful for kids with autism, specifically, and now we have proven that it’s helpful for their parents too.”

    Parents who took part in the study were involved in a randomized controlled trial. They were asked to complete surveys before and after the treatment and were compared to parents who had not begun therapy.

    Weiss and Ph.D student Andrea Maughan, examined changes in parent mental health, mindfulness, and perceptions of their children, during a trial of cognitive behaviour therapy for 57 children with ASD aged 8-12 who did not have an intellectual disability. The study, published in the Journal of Autism and Developmental Disorders, showed that parents who participated in cognitive therapy with their children, experienced improvements in their own depression, emotion regulation, and mindful parenting.

    “The research showed that parents improved their abilities to handle their own emotions and to see themselves in a more positive light,” said Weiss. “It helped them to become more aware of their parenting and all of the good they do as parents.”

    In the study, parents were co-therapists with their child’s therapist and were tasked with employing the same strategies alongside their children. This allowed the parents learn to help themselves in the process. Parents were required to write down their children’s thoughts during activities.

    “As a parent participating in the SAS:OR Program, I have grown as much as my son did. I used to use a “one size fits all” strategy with my son — now he and I have many tools to manage through difficult moments,” said Jessica Jannarone, a parent involved in study. “The ability to talk about our feelings, identify triggers, and think proactively about approaches has brought both positivity and comfort to our lives. Watching my son develop in this program and find a way to start handling his feelings has been the greatest gift of all.”

    Weiss added the findings also speak to the importance for health care providers to involve parents in the process of delivering care to children with autism.

    “We know parents of children with autism, in addition to all the positive experiences they have, also experience high levels of distress. So if we can do something to reduce that, we have a responsibility to try to do so.”


  2. Study suggests people with autism are less surprised by the unexpected

    August 16, 2017 by Ashley

    From the University College London press release:

    Adults with autism may overestimate the volatility of the world around them, finds a new UCL study published in Nature Neuroscience.

    The researchers found that adults with autism were less surprised by unexpected images in a simple learning task than adults without autism, and those who were the least surprised had the most pronounced symptoms.

    “We know from previous studies that people with autism often aren’t surprised by things that would surprise other people,” said lead author Dr Rebecca Lawson (UCL Wellcome Trust Centre for Neuroimaging). “Our results suggest that this may be because of differences in how people with autism build expectations. Our expectations bias our behaviour in subtle ways, so being less susceptible to these effects may result in strengths as well as difficulties.”

    Insistence on sameness and intolerance of change are part of the diagnostic criteria for autism, but there has been little research addressing how people with autism represent and respond to unexpected changes to their environment.

    In this study, 24 adults with autism and 25 adults without autism completed a task that involved learning to expect to see different pictures on a computer screen after hearing either a high or low sound.

    The researchers applied computational modelling to the data to characterize each person’s learning process. They found that adults with autism tend to overestimate how changeable the environment is, which reduces how much their prior expectations guide their behaviour.

    The adults with autism learned the task well enough overall, but showed differences in updating their expectations when the environment unexpectedly became more volatile.

    “When we’re uncertain about our own beliefs, such as under volatile conditions, we’re driven more by our senses than our prior expectations. If people with autism are more often expecting volatility, that could help explain their propensity to sensory overload, enhanced perceptual functioning and context insensitivity,” said Dr Lawson.

    The study found that the ability to form expectations about upcoming pictures was related to the severity of communication problems in people with autism. Senior author Professor Geraint Rees (UCL Wellcome Trust Centre for Neuroimaging) said: “The idea that differences in how people with autism build visual expectations may link to social difficulties is an intriguing possibility, and one that we would like to pursue further in consultation with members of the autism community.”

    The computational measures of learning and surprise were also linked to changes in pupil size, which is believed to reflect the function of brain chemicals called neuromodulators, such as noradrenaline.

    “This work opens up the possibility of using computational modelling with more direct measures of brain function to help us understand the neural basis of differences in how we learn about changes in the environment,” said co-author Dr Christoph Mathys (SISSA — Trieste, Italy).

    Dr Lawson added: “The individual differences in how people represent and respond to the world are often more striking than the similarities. This research represents an important advance in our understanding of how people with autism see the world differently.”


  3. Autism severity detected with brain activity test

    August 11, 2017 by Ashley

    From the University of California – Los Angeles press release:

    UCLA researchers have discovered that children with autism have a tell-tale difference on brain tests compared with other children. Specifically, the researchers found that the lower a child’s peak alpha frequency — a number reflecting the frequency of certain brain waves — the lower their non-verbal IQ was. This is the first study to highlight peak alpha frequency as a promising biomarker to not only differentiate children with autism from typically developing children, but also to detect the variability in cognitive function among children with autism.

    Autism spectrum disorder affects an estimated one in 68 children in the United States, causing a wide range of symptoms. While some individuals with the disorder have average or above-average reasoning, memory, attention and language skills, others have intellectual disabilities. Researchers have worked to understand the root of these cognitive differences in the brain and why autism spectrum disorder symptoms are so diverse.

    An electroencephalogram, or EEG, is a test that detects electrical activity in a person’s brain using small electrodes that are placed on the scalp. It measures different aspects of brain activity including peak alpha frequency, which can be detected using a single electrode in as little as 40 seconds and has previously been linked to cognition in healthy individuals.

    The researchers performed EEGs on 97 children ages 2 to 11; 59 had diagnoses of autism spectrum disorder and 38 did not have the disorder. The EEGs were taken while the children were awake and relaxed in dark, quiet rooms. Correlations among age, verbal IQ, non-verbal IQ and peak alpha frequency were then studied.

    The discovery that peak alpha frequency relates directly to non-verbal IQ in children with the disorder suggests a link between the brain’s functioning and the severity of the condition. Moreover, it means that researchers may be able to use the test as a biomarker in the future, to help study whether an autism treatment is effective in restoring peak alpha frequency to normal levels, for instance.

    More work is needed to understand whether peak alpha frequency can be used to predict the development of autism spectrum disorder in young children before symptoms emerge.

    The study was published online in the European Journal of Neuroscience.


  4. ‘Residual echo’ of ancient humans in scans may hold clues to mental disorders

    August 10, 2017 by Ashley

    From the NIH/National Institute of Mental Health press release:

    Researchers at the National Institute of Mental Health (NIMH) have produced the first direct evidence that parts of our brains implicated in mental disorders may be shaped by a “residual echo” from our ancient past. The more a person’s genome carries genetic vestiges of Neanderthals, the more certain parts of his or her brain and skull resemble those of humans’ evolutionary cousins that went extinct 40,000 years ago, says NIMH’s Karen Berman, M.D. NIMH is part of the National Institutes of Health.

    In particular, the parts of our brains that enable us to use tools and visualize and locate objects owe some of their lineage to Neanderthal-derived gene variants that are part of our genomes and affect the shape of those structures — to the extent that an individual harbors the ancient variants. But this may involve trade-offs with our social brain. The evidence from MRI scans suggests that such Neanderthal-derived genetic variation may affect the way our brains work today — and may hold clues to understanding deficits seen in schizophrenia and autism-related disorders, say the researchers.

    Dr. Berman, Michael Gregory, M.D., of the NIMH Section on Integrative Neuroimaging, and colleagues, report on their magnetic resonance imaging (MRI) study published online, July 24, 2017 in the journal Scientific Reports.

    During their primordial migration out of Africa, ancestors of present-day humans are thought to have interbred with Neanderthals, whose brain characteristics can be inferred from their fossilized skulls. For example, these indicate that Neanderthals had more prominent visual systems than modern humans.

    “It’s been proposed that Neanderthals depended on visual-spatial abilities and toolmaking, for survival, more so than on the social affiliation and group activities that typify the success of modern humans — and that Neanderthal brains evolved to preferentially support these visuospatial functions,” Berman explained. “Now we have direct neuroimaging evidence that such trade-offs may still be operative in our brains.”

    Might some of us, more than others, harbor Neanderthal-derived gene variants that may bias our brains toward trading sociability for visuospatial prowess — or vice versa? The new study adds support to this possibility by showing how these gene variants influence the structure of brain regions underlying those abilities.

    To test this possibility, Gregory and Berman measured the impact of Neanderthal variants on MRI measures of brain structure in a sample of 221 participants of European ancestry, drawn from the NIMH Genetic Study of Schizophrenia.

    The new MRI evidence points to a a gene variant shared by modern-day humans and Neanderthals that is likely involved in development of the brain’s visual system. Similarly, Neanderthal variants impacting development of a particular suspect brain area may help to inform cognitive disability seen in certain brain disorders, say the researchers.

    For example, in 2012, Berman and colleagues reported on how genetic variation shapes the structure and function of a brain area called the Insula in the autism-related disorder Williams Syndrome. People with this rare genetic disorder are overly sociable and visuo-spatially impaired — conspicuously opposite to the hypothesized Neanderthal propensities and more typical cases on the autism spectrum. Mice in which a gene affected by Williams syndrome is experimentally deleted show increased separation anxiety. And just last week, researchers showed that the same genetic variability also appears to explain why dogs are friendlier than wolves.


  5. Researchers develop set of guidelines for art therapy for children with ASD

    August 9, 2017 by Ashley

    From the Florida State University press release:

    A Florida State University researcher is working with art therapists to find better ways to treat children who have Autism Spectrum Disorder (ASD).

    Theresa Van Lith, assistant professor of art therapy in FSU’s Department of Art Education, led a study that surveyed art therapists working with children with ASD to develop a clearer understanding of their techniques and approaches. The study was published this month in the journal Arts in Psychotherapy.

    “I had noticed that is there is a high number of art therapists working with people who have autism, but I wanted to understand what their practice wisdoms were in terms of how they go about facilitating art therapy sessions,” Van Lith said. “We want to make it a transparent process for the client or the parents of a client, so they know what to expect.”

    The Center for Disease Control and Prevention estimates that one in 68 children is diagnosed with Autism Spectrum Disorder by age 8 each year. As that population grows, more parents and educators are seeking out art therapists to address social development and sensory issues that generally accompany ASD.

    The research team compiled and analyzed the art therapists’ expert opinions on topics such as what worked with ASD clients, their objectives during a session, their most preferred theoretical approach and the considerations they had to make when working with children with ASD.

    “We realized there wasn’t a consensus with the theoretical approaches they used,” Van Lith said. “They were having to use a number of theoretical approaches together, and we wanted to understand what that would be like in practice.”

    While the survey results varied, the researchers were able to develop a set of guidelines for delivering art therapy to children who have ASD. The proposed guidelines will serve as a basis of successful practice for new art therapy professionals and for further studies.

    “We used these practice wisdoms from art therapists around the field to understand the most effective and beneficial way to use art therapy with child with ASD,” Van Lith said.

    Some of the best practices found were: use the same routine to begin each session, explain instructions in a consistent manner, spark curiosity to teach new skills and be aware of transitions between activities.

    The researchers also outlined aspects of practice that were found not to be useful. They warned art therapists on a handful of factors that could have adverse effects on clients such as being overly directive or too loose with direction, using over stimulating art materials and forcing or being restrictive with communication styles.

    “That’s important because sometimes there is the assumption of ‘why can’t anyone do these techniques?'” Van Lith said. “People wonder why art therapy can’t be conducted in a much less formal situation. However, they don’t realize there are nuances in the way we deliver the art therapy directive — a lot of that is about knowing the client and the way a client responds to communication.”

    Based on these guidelines and consensus, Van Lith is rolling out a larger study to demonstrate the efficacy of that working model.

    “The idea is that, over time, we can build up the evidence that art therapy is effective for these children, and we can demonstrate how and why that is the case,” Van Lith said.

    The ultimate goal is to educate art therapists about best practices as well as inform clients, parents and teachers about possible benefits of art therapy for children with ASD.

    “As a result of more transparency, the clients can appreciate or understand some of the changes that might be going on for them as they receive art therapy,” Van Lith said. “We don’t want it to be a mysterious process.”

    Van Lith co-authored the study with Jessica Stallings, associate professor at Emporia State University, and FSU alumna Chelsea Harris, who practices at the Emory Autism Center.


  6. Tools help identify patients at risk for autism spectrum disorders

    August 7, 2017 by Ashley

    From the Cincinnati Children’s Hospital Medical Center press release:

    A tool intended to detect signs of autism in high-risk infants can be used to help identify and treat patients with tuberous sclerosis complex (TSC), a genetic disorder, who most need early intervention. Moreover, they can identify these patients earlier than ever before.

    A new study, published online in Pediatric Neurology, evaluated children with TSC, which causes malformations and tumors in the brain and other vital organs and has a high prevalence of autism spectrum disorders (ASD).

    “Single gene syndromes with a high prevalence of neurodevelopmental disorders, such as TSC, provide unique opportunities to investigate the underlying biology and identify potential treatments for ASD,” says Jamie Capal, MD, a neurodevelopmental and autism specialist in the Division of Neurology at Cincinnati Children’s Hospital Medical Center and lead author of the study. “These disorders provide populations in which ASD symptoms can be identified and measured before the formal diagnosis of ASD is made.”

    Capal led the study of 79 children up to 24 months old. These children with TSC are part of a larger group of children enrolled in the TSC Autism Center of Excellence Research Network (TACERN). This is a multicenter study to identify biomarkers of ASD.

    The researchers administered the Autism Observation Scale for Infants (AOSI) at 12 months of age followed by the Autism Diagnostic Observation Schedule-2 (ADOS-2), a diagnostic tool, at 24 months.

    The AOSI was designed primarily as a research tool to identify early signs of autism in high-risk infants who have an older sibling with autism. The scale includes seven activities that allow researchers to observe behaviors such as visual tracking and response to facial emotion.

    “The ASD group had a mean AOSI total score at 12 months significantly higher than the non-ASD group, demonstrating that it is a useful clinical tool in determining which infants with TSC are at increased risk of developing ASD.” says Capal.


  7. Study recommends children with autism should be checked for DCD

    July 18, 2017 by Ashley

    From the University of Texas at Arlington press release:

    UTA researchers are recommending in a new study that children diagnosed with autism spectrum disorder should be checked for developmental coordination disorder since the two maladies are linked.

    In an article published this month in the journal Research in Autism Spectrum Disorders, Priscila Caçola, an assistant professor of kinesiology; UTA librarian Peace Ossom Williamson and Haylie Miller, an assistant professor in the Department of Physical Therapy at the University of North Texas Health Science Center, recommend that individuals with autism be evaluated thoroughly for the possibility of DCD.

    DCD, a neurodevelopmental condition, affects between 2 and 7 percent of school-age children. It is considered one of the major problems afflicting school-age children around the world. Symptoms include poor balance and coordination and underdeveloped handwriting skills. They struggle with basic childhood activities such as riding bicycles. Children with DCD tend to have limited or no athletic ability, are more sedentary and therefore more prone to obesity. They also are more likely to suffer from low self-esteem.

    Many children with autism spectrum disorder have traits commonly found in those with DCD. But the researchers sought to highlight some of the differences, including working memory ability and their ability to grasp things like pencils properly with their hands. They found that there are more differences than similarities.

    Caçola is an expert on DCD. She is the director of UTA’s Little Mavs Movement Academy, a free group intervention program designed to improve the motor skills of children age four to 16.

    Caçola and her colleagues analyzed11 articles that highlighted differences between individuals with ASD and DCD. While there are many similarities and some overlap between the two conditions, they are not identical. The researchers say that for this reason, medical professionals should be more aggressive about finding signs of DCD in children with autism.

    “Motor skills are the root of DCD but they are also really important in autism,” Caçola said. “When autism is diagnosed, motor skills are not the primary concern. But we also found that that there is a lot of co-occurrence of DCD in autism. A lot of individuals may have autism but they are not assessed for DCD. We really need to assess for DCD in children with autism and the earlier the better.”

    Caçola said the notion that DCD can be present in autism is new and gaining more attention because more people now recognize the importance of having strong motor skills. Poor motor skills, if left unchecked, can have lifelong consequences for children in nearly every sphere of their lives, she said.

    “Poor motor skills could be impairing social skills even more,” she added.

    Anne Bavier, dean of UTA’s College of Nursing and Health Innovation, called Caçola’s study an important contribution to the still evolving body of knowledge on DCD.

    “Priscila’s scholarly work coupled with her expertise and passion for tackling DCD has the potential to touch the lives of exponentially more children, not only here in the DFW area but around the country and around the world,” Bavier said.


  8. Adults with autism make more consistent choices

    July 17, 2017 by Ashley

    From the Association for Psychological Science press release:

    People with autism spectrum conditions (ASC) often show a reduced sensitivity to contextual information in perceptual tasks, but new research suggests that this reduced sensitivity may actually lead to more consistent choices in high-level decision-making tasks.

    The findings, published in Psychological Science, a journal of the Association for Psychological Science, indicate that individuals with ASC are less susceptible to the effects of decoy options when evaluating and choosing the “best” product among several options relative to individuals without ASC.

    “People with autism are indeed more consistent in their choices than the neurotypical population. From an economic perspective, this suggests that people with autism are more rational and less likely to be influenced by the way choices are presented,” says psychology researcher George Farmer of the University of Cambridge.

    While numerous studies have compared the performance of individuals with ASC and neurotypical individuals on a variety of low-level perceptual tasks, Farmer and University of Cambridge co-authors William J. Skylark and Simon Baron-Cohen noticed that relatively little research had examined their performance in the realm of decision making.

    People with autism are thought to focus more on detail and less on the bigger picture — this is often found in more perceptual studies, for instance by showing that people with autism are less susceptible to some visual illusions,” explains Farmer. “We wanted to know if this tendency would apply to higher-level decision-making tasks.”

    The researchers recruited 90 adults with ASC and 212 neurotypical adults to participate in an online decision-making study. The researchers used 10 product pairs and the products in each pair differed on two dimensions. Importantly, the pairs were always presented as part of a trio that included a third decoy item.

    Participants saw each pair twice — in one case, the accompanying decoy was designed to target product A; in the other case, it was designed to target product B. The participants indicated the “best” option out of the three presented.

    For example, participants might be asked to choose one of three USB drives that varied according to their capacity and their lifespan. Product A has a capacity of 32 GB and a lifespan of 20 months, while Product B has less capacity (16 GB) but a longer lifespan (36 months). The decoy, with a capacity of 28 GB and lifespan of 16 months, is objectively worse than A and should therefore be ignored.

    Participants also completed measures assessing aspects of cognitive ability and a measure that assessed traits typically associated with ASC.

    With purely rational economic decision making, the decoy items would be irrelevant and participants would make the same choice both times that products A and B were shown. If the decoys were effective, however, participants would switch their selection when the decoy changed, favoring the product targeted by the decoy in each trio. In the example above, people would be more likely to choose Product A with the decoy present than they would if there were simply comparing Product A and B.

    The data revealed that, compared with neurotypical participants, participants with ASC made more consistent choices and made fewer switches in their selections.

    In a second experiment, the researchers recruited participants from the general population, administering the same task with only those who scored in the bottom and top deciles of a validated measure of traits typically associated with autism. Their results showed an attenuated pattern similar to that seen in the first experiment: Participants who scored high on autistic traits were more likely to make consistent choices compared with low-scoring participants.

    Together, the findings indicate that individuals with ASC are less likely to show a cognitive bias that often affects their neurotypical peers.

    “[C]hoice consistency is regarded as normative in conventional economic theory, so reduced context sensitivity would provide a new demonstration that autism is not in all respects a ‘disability’,” the researchers write in their paper.

    “These findings suggest that people with autism might be less susceptible to having their choices biased by the way information is presented to them — for instance, via marketing tricks when choosing between consumer products,” Farmer adds.

    The results also indicate that the reduced sensitivity to context that is associated with ASC may extend well beyond low-level cognitive processes, shedding new light on the nature of “autistic cognition,” the researchers argue:

    “Altered preferences in a choice task involving verbally described consumer products would suggest the need for a broader characterization and integrated theorizing across levels and domains of processing,” they conclude.


  9. Possible early diagnosis of autism spectrum disorder

    July 16, 2017 by Ashley

    From the UT Southwestern Medical Center press release:

    Measuring a set of proteins in the blood may enable earlier diagnosis of autism spectrum disorder (ASD), according to a study from the Peter O’Donnell Jr. Brain Institute at UT Southwestern Medical Center.

    The research found that the levels of two proteins previously identified as potential markers for ASD could help scientists accurately diagnose the disorder in approximately 75 percent of the children studied. When the two proteins are measured together, the diagnostic accuracy increased to 82 percent.

    The study published in the Journal of Neuroinflammation is among several recent and ongoing efforts to improve early diagnosis of ASD by shifting focus to biological measurements instead of behavioral symptoms.

    Progress in this area could lead to earlier intervention and help limit the effects of the disorder, said Dr. Dwight German, study senior author and Professor of Psychiatry at UT Southwestern.

    “ASD is a very heterogeneous disorder, and if we can identify biomarkers for even a subgroup of ASD patients, then that would be extremely helpful not only for early diagnosis but also for the development of therapeutics,” said Dr. German, whose latest research builds upon an ASD finding published last year in Scientific Reports.

    ASD affects approximately 1 in 68 children in the U.S. The neurodevelopmental disorder is characterized by social interaction and communication challenges, and restricted and repetitive patterns of behavior.

    Most cases are not diagnosed until about age 4, when communication and social disabilities become apparent. However, recent research offers hope that detection may be possible by age 1 by measuring brain growth.


  10. Mice provide insight into genetics of autism spectrum disorders

    July 15, 2017 by Ashley

    From the University of California – Davis press release:

    While the definitive causes remain unclear, several genetic and environmental factors increase the likelihood of autism spectrum disorder, or ASD, a group of conditions covering a “spectrum” of symptoms, skills and levels of disability.

    Taking advantage of advances in genetic technologies, researchers led by Alex Nord, assistant professor of neurobiology, physiology and behavior with the Center for Neuroscience at the University of California, Davis, are gaining a better understanding of the role played by a specific gene involved in autism. The collaborative work appears June 26 in the journal Nature Neuroscience.

    “For years, the targets of drug discovery and treatment have been based on an unknown black box of what’s happening in the brain,” said Nord. “Now, using genetic approaches to study the impact of specific mutations found in cases, we’re trying to build a cohesive model that links genetic control of brain development with behavior and brain function.”

    The Nord laboratory studies how the genome encodes brain development and function, with a particular interest in understanding the genetic basis of neurological disorders.

    Mouse brain models

    There is no known specific genetic cause for most cases of autism, but many different genes have been linked to the disorder. In rare, specific cases of people with ASD, one copy of a gene called CHD8 is mutated and loses function. The CHD8 gene encodes a protein responsible for packaging DNA in cells throughout the body. Packaging of DNA controls how genes are turned on and off in cells during development.

    Because mice and humans share on average 85 percent of similarly coded genes, mice can be used as a model to study how genetic mutations impact brain development. Changes in mouse DNA mimic changes in human DNA and vice-versa. In addition, mice exhibit behaviors that can be used as models for exploring human behavior.

    Nord’s laboratory at UC Davis and his collaborators have been working to characterize changes in brain development and behavior of mice carrying a mutated copy of CHD8.

    “Behavioral tests with mice give us information about sociability, anxiety and cognition. From there, we can examine changes at the anatomical and cellular level to find links across dimensions,” said Nord. “This is critical to understanding the biology of disorders like autism.”

    By inducing mutation of the CHD8 gene in mice and studying their brain development, Nord and his team have established that the mice experience cognitive impairment and have increased brain volume. Both conditions are also present in individuals with a mutated CHD8 gene.

    New implications for early and lifelong brain development

    Analysis of data from mouse brains reveals that CHD8 gene expression peaks during the early stages of brain development. Mutations in CHD8 lead to excessive production of dividing cells in the brain, as well as megalencephaly, an enlarged brain condition common in individuals with ASD. These findings suggest the developmental causes of increased brain size.

    More surprisingly, Nord also discovered that the pathological changes in gene expression in the brains of mice with a mutated CHD8 continued through the lifetime of the mice. Genes involved in critical biological processes like synapse function were impacted by the CHD8 mutation. This suggests that CHD8 plays a role in brain function throughout life and may affect more than early brain development in autistic individuals.

    While Nord’s research centers on severe ASD conditions, the lessons learned may eventually help explain many cases along the autism spectrum.

    Collaborating to improve understanding

    Nord’s work bridges disciplines and has incorporated diverse collaborators. The genetic mouse model was developed at Lawrence Berkeley National Laboratory using CRISPR editing technology, and co-authors Jacqueline Crawley and Jill Silverman of the UC Davis MIND Institute evaluated mouse behavior to characterize social interactions and cognitive impairments.

    Nord also partnered with co-author Konstantinos Zarbalis of the Institute for Pediatric Regenerative Medicine at UC Davis to examine changes in cell proliferation in the brains of mice with the CHD8 mutation, and with Jason Lerch from the Mouse Imaging Centre at the Hospital for Sick Children in Toronto, Canada, to conduct magnetic resonance imaging on mouse brains.

    “It’s the act of collaboration that I find really satisfying,” Nord said. “The science gets a lot more interesting and powerful when we combine different approaches. Together we were able to show that mutation to CHD8 causes changes to brain development, which in turn alters brain anatomy, function and behavior.”

    In the future, Nord hopes to identify how CHD8 packages DNA in neural cells and to determine the specific impacts to early brain development and synaptic function. Nord hopes that deep exploration of CHD8 mutations will ultimately yield greater knowledge of the general factors contributing to ASD and intellectual disability.