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Why autism rates have skyrocketed in the NYC metro area: study
Autism rates in the Big Apple have ballooned at a baffling rate.
Instances of Autism Spectrum Disorder have tripled in the New York-New Jersey metro area — from 1% of the population in 2000 to 3% in 2016.
That’s largely due to a growing number of diagnoses of children without intellectual disabilities, said researchers at Rutgers, in a new study published Thursday in the journal Pediatrics.
They identified 4,661 8-year-olds with ASD in the metro area. The majority did not have intellectual disabilities (59.3%) and were therefore less likely to be previously identified.
ASD is a developmental disorder that impacts an individual verbally, behaviorally and socially. Doctors make a diagnosis by looking at a child’s developmental history and behavior, according to the Centers for Disease Control and Prevention. However, since there is no exact medical test, determining ASD can be challenging. Some do not receive a diagnosis until they are adolescents or even adults.
But earlier, more accurate diagnoses don’t completely explain the upwards trend, which was based on estimates from the CDC.
Experts said that waiting too long to have kids could be partly responsible for the rise.
“Known environmental factors, such as parent age, are likely contributing. Many parents in the metro area wait to have children at older ages,” Josephine Shenouda, an adjunct professor at Rutgers and one of the lead authors of the study, told The Post.
“There are likely other yet-to-be known environmental [and] biological causes that require further investigations,” she added.
According to the CDC, the rate of women having their first child after 40 more than doubled between 1990 and 2012. In New York, the rate went up 57% between 2000 and 2012.
Meanwhile, data from the U.S. Census Bureau released last year found that the median age of new moms is now 30 — the highest on record.
Previous research suggests that moms over 40 have a 51% higher risk of having a child with autism than mothers ages 25 to 29, and a 77% higher risk than moms under age 25.
The Rutgers study also found that black children are likely under-diagnosed with autism — particularly if they don’t have intellectual disabilities. While the racial gap in autism diagnoses is diminishing — partially explaining the rise in autism cases overall — the actual numbers may be even higher in this demographic.
“Historically, children residing in less affluent areas, and black and Hispanic children, had lower rates of autism,” Shenouda said. “Today, we see [fewer] disparities in identification among those groups, but [they] still remain, and going forward will likely contribute to continued increases in autism as we address those disparities.”
A Five-Fold Increase in Autism in New York-New Jersey Region
Summary: Between 2000 and 2016, documented cases of ASD increased as much as 500% in the New York – New Jersey metro region. The highest increase was in children without intellectual disabilities. Researchers say as many as 2 out of 3 children diagnosed with autism have no intellectual disabilities at all.
Source: Rutgers University
Documented cases of autism spectrum disorder (ASD) in the New York–New Jersey metro region increased by as much as 500 percent between 2000 and 2016, with the highest increase among children without intellectual disabilities, according to a Rutgers study.
This is the opposite of past findings, which have suggested that autism typically co-occurs with intellectual impairment.
“One of the assumptions about ASD is that it occurs alongside intellectual disabilities,” said Josephine Shenouda, an adjunct professor at the Rutgers School of Public Health and lead author of the study published in the journal Pediatrics.
“This claim was supported by older studies suggesting that up to 75 percent of children with autism also have intellectual disability.”
“What our paper shows is that this assumption is not true,” Shenouda said. “In fact, in this study, two-in-three children with autism had no intellectual disability whatsoever.”
Using biannual data from the New Jersey Autism Study, researchers identified 4,661 8-year-olds with ASD in four New Jersey counties (Essex, Hudson, Ocean and Union) during the study period. Of these, 1,505 (32.3 percent) had an intellectual disability; 2,764 (59.3 percent) did not.
Subsequent analysis found that rates of ASD co-occurring with intellectual disability increased two-fold between 2000 and 2016 – from 2.9 per 1,000 to 7.3 per 1,000. Rates of ASD with no intellectual disability jumped five-fold, from 3.8 per 1,000 to 18.9 per 1,000.
Shenouda said there may be explanations for the observed increases, though more research is needed to specify the precise causes.
“Better awareness of and testing for ASD does play a role,” said Walter Zahorodny, associate professor at the Rutgers New Jersey Medical School and senior author on the study.
“But the fact that we saw a 500 percent increase in autism among kids without any intellectual disabilities – children we know are falling through the cracks – suggests that something else is also driving the surge.”
ASD prevalence has been shown to be associated with race and socioeconomic status. The Rutgers study identified that Black children with ASD and no intellectual disabilities were 30 percent less likely to be identified compared with White children, while kids living in affluent areas were 80 percent more likely to be identified with ASD and no intellectual disabilities compared with children in underserved areas.
Using New Jersey Autism Study data and U.S. census data, the researchers were able to estimate rates of ASD undercounting in the four counties.
Shenouda said that addressing the findings could help close identification gaps and eventually bring much-needed ASD services to lower-income areas.
“With up to 72 percent of the ASD population having borderline or average intellectual ability, emphasis should be placed on early screening, early identification and early intervention,” she said.
“Because gains in intellectual functioning are proportionate with intense intervention at younger ages, it’s essential that universal screening is in place, especially in underserved communities.
About this autism research news
Author: Patti Zielinski
Source: Rutgers University
Contact: Patti Zielinski – Rutgers University
Image: The image is in the public domain
Original Research: Closed access.
“Prevalence and Disparities in the Detection of Autism Without Intellectual Disability ” by Josephine Shenouda et al. Pediatrics
Abstract
See also
Prevalence and Disparities in the Detection of Autism Without Intellectual Disability
BACKGROUND:
Intellectual ability predicts functional outcomes for children with autism spectrum disorder (ASD). It is essential to classify ASD children with and without intellectual disability (ID) to aid etiological research, provide services, and inform evidence-based educational and health planning.
METHODS:
Using a cross-sectional study design, data from 2000 to 2016 active ASD surveillance among 8-year-olds residing in the New York-New Jersey Metropolitan Area were analyzed to determine ASD prevalence with and without ID. Multivariable Poisson regression models were used to identify trends for ASD with ID (ASD-I) and without ID (ASD-N).
RESULTS:
Overall, 4661 8-year-olds were identified with ASD. Those that were ASI-I were 1505 (32.3%) and 2764 (59.3%) were ASD-N. Males were 3794 (81.4%), 946 (20.3%) were non-Hispanic Black (Black), 1230 (26.4%) were Hispanic, and 2114 (45.4%) were non-Hispanic white (white). We observed 2-fold and 5-fold increases in the prevalence of ASD-I and ASD-N, respectively, from 2000-2016. Black children were 30% less likely to be identified with ASD-N compared with white children. Children residing in affluent areas were 80% more likely to be identified with ASD-N compared with children in underserved areas. A greater proportion of children with ASD-I resided in vulnerable areas compared with children with ASD-N. Males had higher prevalence compared with females regardless of ID status; however, male-to-female ratios were slightly lower among ASD-I compared with ASD-N cases.
CONCLUSIONS:
One-in-3 children with ASD had ID. Disparities in the identification of ASD without ID were observed among Black and Hispanic children as well as among children residing in underserved areas.
Racial, economic disparities skew New Jersey data on autism, intellectual disability | Spectrum
Community watch: A larger proportion of Black autistic children in New Jersey are identified as having intellectual disability, compared with their white autistic peers.
xavierarnau / iStock
Black children are significantly more likely than white children to be identified as having autism with intellectual disability, according to data from New Jersey published today in Pediatrics. Autism with intellectual disability is also more commonly identified among children from poorer areas of the state than among those from wealthier areas, the study shows.
Racial and ethnic disparities in autism diagnoses have declined across the United States over the past 20 years. And prevalence gaps among white, Black and Hispanic children in New Jersey have historically been fairly small, according to data from 2014 and 2018. But the new analysis, which looked at data collected there from 2000 to 2016, reveals that significant racial, ethnic and socioeconomic disparities persist in the identification of intellectual disability among autistic children.
“We didn’t expect the level of disparities that we saw,” says study investigator Josephine Shenouda, program manager and epidemiologist at Rutgers New Jersey Medical School in Newark.
Universal autism screening could go a long way toward bridging these gulfs, which likely reflect inequalities in access to a diagnosis rather than true differences in prevalence, Shenouda and others say.
The work does not clarify what drives the demographic disparities, says Andres Roman-Urrestarazu, director of studies in psychology and behavioral science at the University of Cambridge in England, who was not involved in the study. The data come from the U.S. Centers for Disease Control and Prevention’s Autism and Developmental Disabilities Monitoring (ADDM) Network, which relies on children’s educational and clinical records but lacks information on their insurance status, and thus give only part of the picture, Roman-Urrestarazu says. “Knowing how the U.S. health-care system works, it’s kind of an important thing, as much as ethnicity is a crucial factor to consider. That’s my main criticism.”
The new study dug specifically into the prevalence of autism with and without intellectual disability among 8-year-old children in four New Jersey counties, which account for about a quarter of the state’s 8-year-olds. Together, these counties have consistently shown a higher autism prevalence than most of the other 10 ADDM sites around the country, and the region is highly diverse. Examining county-level data offers valuable insights into who is being identified and when, says David Mandell, professor of psychiatry at the University of Pennsylvania in Philadelphia, who was not involved in the study.
Of the 29,470 children included in the analysis, researchers identified 1,505 who have autism with, and 2,764 who have autism without, intellectual disability.
Autism without intellectual disability was 30 percent less likely to be identified in non-Hispanic Black children compared with non-Hispanic white children, Shenouda’s team found. And it was about 60 percent as likely among children who live in less affluent areas compared with those in wealthier areas.
Because public-school funding is tied to property taxes, children from poorer areas attend poorly funded schools, where their developmental concerns are less likely to be correctly identified, Mandell says. Systemic racism may influence how health-care and educational professionals view minority children, too, he says. “We’ve got a lot of data and a long history showing that for Black kids who have developmental disabilities, those developmental disabilities are often missed or misdiagnosed.” Autistic Black children tend to need to be more severely affected to receive the same attention as autistic white children, he says.
Overall, about 1 in 42 white children has autism without intellectual disability, the study suggests. That number is 1 in 82 for Black children. If the figure for white children can be considered close to the actual prevalence, then officials are likely missing about half of Black children with autism, Mandell says.
Over the 16-year study period, autism prevalence in New Jersey went from about 1 in 104 children in 2000 to about 1 in 31 as of 2016. The prevalence of autism without intellectual disability increased by a factor of five, whereas that for autism plus intellectual disability only doubled. These disparate growth rates could be due to better recognition of autistic children who have average or above-average intellectual abilities, Shenouda says.
The differences are not due to the 2013 change in diagnostic criteria for autism, because the team used the same case definition throughout the entire study period, Shenouda says, and many of the children identified had not been formally diagnosed.
Outside the U.S, a similar pattern has emerged, with a higher proportion of new diagnoses being on the less severely affected end of the spectrum, according to a 2017 study of children in Australia. Based on the four New Jersey counties’ racial and economic diversity, Shenouda and her colleagues suspect the region’s numbers are more representative of the U.S. picture overall than other ADDM study sites are, suggesting that the New Jersey site may predict future national trends.
Across all demographic categories, children do not seem to receive the early screenings recommended by the American Academy of Pediatrics at 18 and 24 months, Shenouda says. But even when children are screened, most do not receive the recommended follow-ups, past research has shown.
One obstacle, Shenouda says, is that many underserved families obtain their routine health care through Federally Qualified Health Centers, which adhere to a different set of screening guidelines: These publicly funded clinics provide care regardless of a person’s ability to pay, but they follow the U.S. Preventive Services Task Force’s recommendation against universal screening.
“If I were to think of something that could help children be identified and have the greatest impact for underserved communities, it would be to follow that recommendation and use effective screeners at 18 and 24 months,” she says.
Cite this article: https://doi.org/10.53053/HKAG7622
Autism Spectrum Disorder Study Looks at Monkeys as Possible Models
Summary: Study builds on mounting evidence that suggests rhesus monkeys may be a good model to study social deficits associated with autism spectrum disorder.
Source: Florida Institute of Technology
New research builds upon growing evidence demonstrating the importance of rhesus macaque monkeys (Macaca mulatta) as a model for the core social impairments observed in autism spectrum disorder (ASD).
ASD is an early onset neurodevelopmental condition characterized by persistent social communication and interaction impairments. Despite its prevalence and societal cost, its basic disease mechanisms remain poorly understood in part due to the overreliance on rodent models, which lack the complex social and cognitive skills critical to modeling behavioral symptoms relevant to human ASD.
Like humans, rhesus monkeys have complex cognitive abilities and display stable and pronounced individual differences in social functioning, making them a promising model to better understand the biological and behavioral mechanisms underlying social impairments.
“Rhesus monkey sociality is stable across time and linked to variation in the initiation but not receipt of prosocial behavior,” a study by assistant professor Catherine F. Talbot, Ph.D., in the School of Psychology at Florida Tech and researchers from Stanford University and University of California, Davis’s California National Primate Research Center, found that several aspects of social functioning differed between monkeys that were classified as low-social compared to monkeys classified as high-social.
Analyzing three years of data from 95 male rhesus monkeys housed at the California National Primate Research Center in large, outdoor social groups in semi-naturalistic habitats, the team first classified monkeys based on their natural social behavior.
For instance, they looked at whether the monkeys were participating in activities such as grooming, which is a behavior that facilitates social bonding in non-human primates, or if they were in proximity to or in contact with other individuals, or if they were just hanging out by themselves with no one else around.
Monkeys that spent the most time alone were classified as low-social, whereas monkeys that spent the least time alone were classified as high-social. Next, the researchers evaluated differences between the social communication profiles of these two groups of monkeys.
The team found that high-social monkeys initiate more pro-social behavior, which encompasses behaviors like sitting in contact with others and grooming, compared to low-social monkeys. However, there was no difference between how often low-social monkeys and high-social monkeys received pro-social behavior.
“This suggests that there’s this underlying social motivation factor, that we’re seeing a higher social motivation as high-social monkeys, which doesn’t sound like rocket science, but it does support the social motivation hypothesis of ASD and lend insight into how this might be impacted by underlying biology,” Talbot said.
“There are multiple theories or ideas about what drives social impairments observed in autism and one of them is that individuals with ASD have lower social motivation.”
This hypothesis suggests that people with ASD tend to have deficits in social reward processing, which causes diminished social initiation and difficulty in fostering and maintaining social bonds. In other words, social interactions are not inherently rewarding.
The team also found that there was no difference in threat behavior between low-social and high-social monkeys, either in the initiation or receipt of threats. That was contrary to their hypothesis, where they figured that if low-social monkeys are not communicating effectively with their peers they would be more likely to get bullied and receive traumatic injuries, something they have found in previous research.
The findings of the current study better characterize this naturally occurring, low-social phenotype and can help researchers gain mechanistic insight into social motivation deficits observed in people with ASD.
“There really hasn’t been much work looking at rhesus macaques as an ASD model,” Talbot said.
“What we’re modeling are naturally occurring social deficits. So, in humans, autism spectrum disorder is just that—a spectrum—and you see these traits that are distributed throughout the entire human population, not just the clinical population. People who may not be classified as being on the spectrum will also exhibit some these traits.”
Individuals with ASD may also experience deficits in other socio-cognitive skills like theory of mind, which is understanding that one’s own personal beliefs and knowledge are different from others.
Following eye gaze and understanding what another person is looking at is another component one component of theory of mind. An impaired ability to follow eye gaze is often one of the first behavioral signs to emerge in children with ASD.
The team is also working on research looking at the underlying biology of low-social and high-social monkeys and how this might relate to their performance on other social cognitive tasks, including how well the monkeys follow the eye gaze of their peers, how well they interact with their peers, how well they identify faces and how that compares to their performance in the non-social domain, like how well they identify objects.
About this autism research news
Author: Press Office
Source: Florida Institute of Technology
Contact: Press Office – Florida Institute of Technology
Image: The image is credited to Kathy West
Original Research: Closed access.
“Rhesus monkey sociality is stable across time and linked to variation in the initiation but not receipt of prosocial behavior” by Catherine F. Talbot et al. American Journal of Primatology
Abstract
See also
Rhesus monkey sociality is stable across time and linked to variation in the initiation but not receipt of prosocial behavior
Rhesus monkeys and humans are highly social primates, yet both species exhibit pronounced variation in social functioning, spanning a spectrum of sociality.
Naturally occurring low sociality in rhesus monkeys may be a promising construct by which to model social impairments relevant to human autism spectrum disorder (ASD), particularly if low sociality is found to be stable across time and associated with diminished social motivation.
Thus, to better characterize variation in sociality and social communication profiles, we performed quantitative social behavior assessments on N = 95 male rhesus macaques (Macaca mulatta) housed in large, outdoor groups.
In Study 1, we determined the social classification of our subjects by rank-ordering their total frequency of nonsocial behavior. Monkeys with the greatest frequency of nonsocial behavior were classified as low-social (n = 20) and monkeys with the lowest frequency of nonsocial behavior were classified as high-social (n = 21).
To assess group differences in social communication profiles, in Study 2, we quantified the rates of transient social communication signals, and whether these social signals were initiated by or directed towards the focal subject.
Finally, in Study 3, we assessed the within-individual stability of sociality in a subset of monkeys (n = 11 low-social, n = 11 high-social) two years following our initial observations.
Nonsocial behavior frequency significantly correlated across the two timepoints (Studies 1 and 3). Likewise, low-social versus high-social classification accurately predicted classification two years later.
Low-social monkeys initiated less prosocial behavior than high-social monkeys, but groups did not differ in receipt of prosocial behavior, nor did they differ in threat behavior.
These findings indicate that sociality is a stable, trait-like characteristic and that low sociality is linked to diminished initiation of prosocial behavior in rhesus macaques.
This evidence also suggests that low sociality may be a useful construct for gaining mechanistic insight into the social motivational deficits often observed in people with ASD.
Gene Mutation Linked to Autism Found to Overstimulate Brain Cells
Autism, also known as Autism Spectrum Disorder (ASD), is a complex developmental disorder that affects communication, social interaction, and behavior. It is characterized by difficulties in verbal and nonverbal communication, social interactions, and repetitive behaviors.
A new study led by Rutgers University has highlighted the potential of innovative techniques in understanding and studying mental disorders.
A new study led by scientists at Rutgers University has uncovered new insights into the underlying brain mechanisms of
The work illustrates the potential of a new approach to studying brain disorders, scientists said.
Describing the study in the journal, Molecular Psychiatry, researchers reported a mutation – R451C in the gene Neurologin-3, known to cause autism in humans – was found to provoke a higher level of communication among a network of transplanted human brain cells in mouse brains. This overexcitation, quantified in experiments by the scientists, manifests itself as a burst of electrical activity more than double the level seen in brain cells without the mutation.
“We were surprised to find an enhancement, not a deficit,” said Zhiping Pang, an associate professor in the Department of Neuroscience and Cell Biology in the Child Health Institute of New Jersey at Rutgers Robert Wood Johnson Medical School and the senior author on the study. “This gain-of-function in those specific cells, revealed by our study, causes an imbalance among the brain’s neuronal network, disrupting the normal information flow.”
The interconnected mesh of cells that constitutes the human brain contains specialized “excitatory” cells that stimulate electrical activity, balanced by “inhibitory” brain cells that curtail electrical pulses, Pang said. The scientists found the oversized burst of electrical activity caused by the mutation threw the mouse brains out of kilter.
Autism spectrum disorder is a developmental disability caused by differences in the brain. About 1 in 44 children have been identified with the disorder, according to estimates from the Centers for Disease Control and Prevention.
Studies suggest autism could be a result of disruptions in normal brain growth very early in development, according to the National Institutes of Health’s National Institute of Neurological Disorders and Stroke. These disruptions may be the result of mutations in genes that control brain development and regulate how brain cells communicate with each other, according to the NIH.
“So much of the underlying mechanisms in autism are unknown, which hinders the development of effective therapeutics,” Pang said. “Using human neurons generated from human stem cells as a model system, we wanted to understand how and why a specific mutation causes autism in humans.”
Researchers employed CRISPR technology to alter the human stem cells’ genetic material to create a line of cells containing the mutation they wanted to study, and then derived human neuron cells carrying this mutation. CRISPR, an acronym for clustered regularly interspaced short palindromic repeats, is a unique gene-editing technology.
In the study, the human neuron cells that were generated, half with the mutation, half without, were then implanted in the brains of mice. From there, researchers measured and compared the electrical activity of specific neurons employing electrophysiology, a branch of physiology that studies the electrical properties of biological cells. Voltage changes or electrical current can be quantified on a variety of scales, depending on the dimensions of the object of study.
“Our findings suggest that the NLGN3 R451C mutation dramatically impacts excitatory synaptic transmission in human neurons, thereby triggering changes in overall network properties that may be related to mental disorders,” Pang said. “We view this as very important information for the field.”
Pang said he expects many of the techniques developed to conduct this experiment to be used in future scientific investigations into the basis of other brain disorders, such as schizophrenia.
“This study highlights the potential of using human neurons as a model system to study mental disorders and develop novel therapeutics,” he said.
Reference: “Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism” by Le Wang, Vincent R. Mirabella, Rujia Dai, Xiao Su, Ranjie Xu, Azadeh Jadali, Matteo Bernabucci, Ishnoor Singh, Yu Chen, Jianghua Tian, Peng Jiang, Kevin Y. Kwan, ChangHui Pak, Chunyu Liu, Davide Comoletti, Ronald P. Hart, Chao Chen, Thomas C. Südhof and Zhiping P. Pang, 24 October 2022, Molecular Psychiatry.
DOI: 10.1038/s41380-022-01834-x
The study was funded by the Robert Wood Johnson Foundation, the Governor’s Council for Medical Research and Treatment of Autism, and the National Institute of Mental Health.
Free Symptom Questionnaire May Help Indicate Whether a Child Has Autism
Summary: A freely available new questionnaire of measures of autism symptoms can help screen for ASD and monitor symptoms over time.
Source: Wiley
Investigators have developed a freely available measure of autism symptoms that can help to screen for autism and monitor changes over time in symptoms.
Research on the development and validation of the Autism Symptom Dimension Questionnaire (ASDQ) is published in Developmental Medicine & Child Neurology.
After development of an initial 33-item version, a revised 39-item version of the ASDQ (available at https://prolific.co/) was applied to 1,467 children and adolescents, including 104 with autism spectrum disorder.
The questionnaire was found to be reliable and valid for evaluating autism symptoms across age, sex, race, and ethnicity.
See also
“Having a freely available and modern measure of autism symptoms can greatly improve clinical practice and advance research into autism spectrum disorder,” said corresponding author Thomas W. Frazier, PhD, of John Carroll University.
About this autism research news
Author: Sara Henning-Stout
Source: Wiley
Contact: Sara Henning-Stout – Wiley
Image: The image is in the public domain
Original Research: The findings will appear in Developmental Medicine & Child Neurology
A Link Between Hearing Loss and Autism Spectrum Disorder
Summary: MEF2C, a gene critical for brain development and regulating circuit formation in the brain also plays a significant role in inner ear development. Mutations of MEF2C have previously been linked to ASD. Researchers found mice with only one copy of the MEF2C gene had reduced activity in the auditory nerve.
Source: Medical University of South Carolina
A cross-disciplinary team of researchers in the College of Medicine at the Medical University of South Carolina (MUSC) has discovered hearing impairment in a preclinical model of autism spectrum disorder (ASD).
More specifically, the researchers report in the Journal of Neuroscience that they observed mild hearing loss and defects in auditory nerve function.
Closer examination of the nerve tissue revealed abnormal supportive cells called glia, aging-like degeneration and inflammation. The findings from this study highlight the importance of considering sensory organs and their interactions with the brain in understanding ASD.
Many patients with ASD show increased sensitivity to sound. While many scientists in the past have looked to the brain for an underlying cause, the MUSC team took a different approach by studying the peripheral hearing system.
“Hearing impairment may have an impact on the higher-level auditory system and, eventually, cognitive function,” said Hainan Lang, M.D., Ph.D., professor in the Department of Pathology and Laboratory Medicine at MUSC and one of two senior authors of the study. Jeffrey Rumschlag, Ph.D., a postdoctoral researcher in the MUSC Hearing Research Program, is a co-first author of the manuscript.
Previous studies of aging-related hearing loss showed that the brain can increase its response to make up for reduced auditory signals from the inner ear. Lang wanted to find out if this increase, called central gain, could contribute to abnormal brain response to sound in ASD. However, a significant obstacle lay in her path.
“We didn’t have a clinically relevant model to directly test this important fundamental question,” she said.
The preclinical model that would allow Lang to test her hypothesis was developed in the lab of Christopher Cowan, Ph.D., chair of Neuroscience at MUSC. Mice in this model have only one working copy of a gene called MEF2C. Cowan’s group had studied MEF2C in the past for its role in brain development and found that it was important for regulating circuit formation in the brain.
They became especially interested in creating a preclinical model when a group of patients with ASD-like symptoms were identified with MEF2C mutations. Cowan’s models also show ASD-like behaviors, including increased activity, repetitive behavior and communication deficits.
Lang and Cowan’s collaboration began as they presented posters side by side at an orientation for the College of Graduate Studies at MUSC. Lang’s lab had identified molecular regulators, including MEF2C, crucial for inner ear development, and she saw Cowan’s model as something she could use to test her hypothesis about hearing loss in neurodevelopmental diseases. Cowan enthusiastically agreed, and the research team began to assess the ability of the MEF2C-deficient mice to hear.
They first measured the response of the brain to auditory signals, using a modified version of a test that is commonly used to screen newborn infants for hearing loss. Mild hearing loss was observed in the mice with only one working copy of MEF2C while hearing remained normal in those with two working copies.
To investigate this loss further, the researchers measured the activity of the auditory nerve, which carries signals from the inner ear to the brain. They found reduced activity in this nerve in mice with only one copy of MEF2C.
With their sights set on the auditory nerve, the researchers used advanced microscopes and staining techniques to determine what was going wrong. Although the overall hearing sensitivity loss was mild, the researchers were excited to see a big difference in auditory nerve response.
Nerves from mice with a single copy of MEF2C showed cellular degeneration much like that seen in age-related hearing loss. The researchers also saw signs of increased inflammation, with disrupted blood vessels and activated immune cells called glia and macrophages. This finding was especially surprising to the researchers.
“Glial cells were not my first thought; I thought it was a neuronal change,” said Lang. “Now we understand that auditory nerve activity can also involve the immune system, and that’s the beautiful new direction we want to continue to study.”
Cowan also believes that the finding opens the way for a new area of neuroscience research.
“We have more appreciation now that there is an important interaction between the immune system in your body and the immune system in your brain,” he said. “The two systems play critical roles in shaping how nervous system cells communicate with each other, in part, by pruning excess or inappropriate connections that have formed, and this is an essential aspect of healthy brain development and function.”
The findings from this study could be important not only for patients who are MEF2C deficient but also for people with ASD or hearing loss as a whole.
“Understanding how this gene may be participating in ear development and how the inner ear development is affecting brain development has tremendous applicability,” said Cowan.
In future studies, the researchers aim to discover how exactly MEF2C causes the changes that were identified in this study. The research team also hopes to explore these findings in patients with MEF2C deficiency using noninvasive hearing tests.
Lang and Cowan both emphasize the importance of collaboration across disciplines for allowing studies like this to take place.
“The power of collaboration is tremendous for a place like MUSC,” said Cowan. “This collaboration, for us, was ideal because Dr. Lang is an expert in hearing function and development, whereas I am more the genetics and molecular development person. These kinds of collaborations are ideal, and it’s precisely what MUSC is encouraging a lot of us to think about doing more and more.”
“In other words, we each play different instruments so, together, we can make a better harmony,” said Lang.
About this ASD and auditory neuroscience research news
Author: Kimberly McGhee
Source: Medical University of South Carolina
Contact: Kimberly McGhee – Medical University of South Carolina
Image: The image is credited to Dr. Hainan Lang, Medical University of South Carolina
Original Research: Closed access.
“Peripheral auditory nerve impairment in a mouse model of syndromic autism” by Christopher Cowan et al. Journal of Neuroscience
Abstract
See also
Peripheral auditory nerve impairment in a mouse model of syndromic autism
Dysfunction of the peripheral auditory nerve (AN) contributes to dynamic changes throughout the central auditory system, resulting in abnormal auditory processing, including hypersensitivity.
Altered sound sensitivity is frequently observed in autism spectrum disorder (ASD), suggesting that AN deficits and changes in auditory information processing may contribute to ASD-associated symptoms, including social communication deficits and hyperacusis.
The MEF2C transcription factor is associated with risk for several neurodevelopmental disorders, and mutations or deletions of MEF2C produce a haploinsufficiency syndrome characterized by ASD, language, and cognitive deficits.
A mouse model of this syndromic ASD (Mef2c-Het) recapitulates many of the MEF2C haploinsufficiency syndrome-linked behaviors, including communication deficits. We show here that Mef2c-Het mice of both sexes exhibit functional impairment of the peripheral AN and a modest reduction in hearing sensitivity.
We find that MEF2C is expressed during development in multiple AN and cochlear cell types; and in Mef2c-Het mice, we observe multiple cellular and molecular alterations associated with the AN, including abnormal myelination, neuronal degeneration, neuronal mitochondria dysfunction, and increased macrophage activation and cochlear inflammation.
These results reveal the importance of MEF2C function in inner ear development and function and the engagement of immune cells and other non-neuronal cells, which suggests that microglia/macrophages and other non-neuronal cells might contribute, directly or indirectly, to AN dysfunction and ASD-related phenotypes.
Finally, our study establishes a comprehensive approach for characterizing AN function at the physiological, cellular, and molecular levels in mice, which can be applied to animal models with a wide range of human auditory processing impairments.
SIGNIFICANCE STATEMENT
This is the first report of peripheral auditory nerve (AN) impairment in a mouse model of human MEF2C haploinsufficiency syndrome that has well-characterized ASD-related behaviors, including communication deficits, hyperactivity, repetitive behavior, and social deficits.
We identify multiple underlying cellular, subcellular, and molecular abnormalities that may contribute to peripheral AN impairment.
Our findings also highlight the important roles of immune cells (e.g., cochlear macrophages) and other non-neuronal elements (e.g., glial cells and cells in the stria vascularis) in auditory impairment in ASD.
The methodological significance of the study is the establishment of a comprehensive approach for evaluating peripheral AN function and impact of peripheral AN deficits with minimal hearing loss.
Lacey Evans trends after sharing dumb & bad autism video
Lacey Evans was a hot topic online this morning, and it wasn’t because of her latest WWE repackaging.
Instead, Evans was being criticized for a clip from a Critical Health News video she posted to her Instagram Story. It features Joel D. Wallach, a veterinarian-turned-”naturopathic physician” who has been accused of selling homeopathic remedies in multi-level marketing schemes, discussing autism and attention-deficit/hyperactivity disorder. The video highlights Wallach making the false claim that ASD and ADHD “didn’t exist” when he was a kid (according to the CDC, autism spectrum disorder diagnoses have risen from 1 in 150 children at the turn of the 21st century to 1 in 59 by 2014, but while many potential contributing factors have been identified, researchers don’t yet know exactly what causes ASD).
When fans and members of the media questioned Evans’ posting of the conspiracy theory — which uses a real University of Central Florida study linking food preservatives containing propionic acid (PPA) to possible precursors for autism which the authors admit is “only the first step toward [a] better understanding of [ASD]”, and which many neurodiverse people & their loved ones find offensive and potentially dangerous — Evans initially defended doing so. She quote-tweeted criticism from Fightful’s Sean Ross Sapp, but later deleted it.
Fans have also noted that Evans liked tweets mocking those who are criticizing her.
Evans has yet to engage in any kind of meaningful dialogue with the people questioning her decision to share the Wallach video, or saying that they’re hurt by her decision to do so. She also hasn’t responded to any of the folks pointing out that she’s participated in promoting processed foods in the past.
WWE hasn’t commented, and probably won’t. It will however be interesting to see how this impacts Evans’ newest push, and the fans reception to it.