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Research by Topic: Brain Development
Mice with mutations in the autism-linked gene WDFY3 have enlarged brains reminiscent of those seen in some children with autism, finds a study published in Nature Communications. The brain overgrowth begins in the womb, the study found. WDFY3 plays a role in autophagy, a process that rids cells of damaged or unneeded parts. Mouse embryos with two copies of the mutant gene have enlarged brains and an excess of immature neurons that divide faster than usual. They also have misdirected patches of neurons. Similar changes have been observed in people with autism.
A new technique helps researchers trace the nerve fibers that connect brain regions by revealing how the fibers physically relate to curves and folds on the brains surface. The method was described in Medical Image Analysis. The technique examines the relationship between white matter, composed of nerve fibers and support cells, and gray matter, which is largely made of the cell bodies of the neurons the fibers sprout from. Preliminary findings support the theory that autism involves early, hyperconnected and dense brain growth before an abnormal decline, the researchers say.
Atypical brain connectivity in areas that affect social interactions have been found in people with autism spectrum disorders. This difference in connectivity is found in networks of the brain that help individuals understand what others are thinking, and to understand others’ actions and emotions. Up until now, it was thought that these areas of the brain were under-connected in people with autism, but this study shows that more often than not, they are actually over-connected. The study also found that the greater the difference in neural connectivity, the more social interactions were impaired.
Neurodevelopmental disabilities, including autism, attention-deficit hyperactivity disorder, dyslexia, and other cognitive impairments, affect millions of children worldwide, and some diagnoses seem to be increasing in frequency. A new study in The Lancet states that industrial chemicals that injure the developing brain are among the known causes for this rise in prevalence. Building on a 2006 study in which researchers identified five industrial chemicals as developmental neurotoxicants (lead, methylmercury, polychlorinated biphenyls, arsenic, and toluene), epidemiological studies have documented six additional developmental neurotoxicants manganese, fluoride, chlorpyrifos, dichlorodiphenyltrichloroethane, tetrachloroethylene, and the polybrominated diphenyl ethers. To protect children from exposure to such harmful chemicals, researchers say that untested chemicals should not be presumed to be safe to brain development.
Scientists at Yale have identified which types of brain cells and regions of the brain are affected by genetic mutations linked to autism spectrum disorders. Researchers state that this new discovery has the potential for new types of autism treatments. We may not need to treat the whole brain, they say; only particular areas of the brain may be affected by autism at certain times.
People with autism show differences from controls in the levels of microRNAs, small noncoding bits of RNA, in the social and sound-processing parts of the brain. MicroRNAs, or miRNAs, bind to messenger RNAs, which code for protein, and flag them for degradation. Each miRNA can interfere with the production of several proteins. Of the more than 5,000 miRNAs and other small noncoding RNAs that the researchers screened, they found 3 miRNAs that are dysregulated in these regions in people with autism compared with controls.
The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published PLoS Genetics. The corpus callosum is the thick bundle of nerve fibers that connects the two hemispheres of the brain. People lacking this structure, a condition called agenesis of the corpus callosum (AgCC), often have social impairments, and roughly one-third of adults meet diagnostic criteria for autism. Children with autism seem to have a smaller corpus callosum than controls do.
Problematic Antibodies Affecting Brain Development During Pregnancy Could Help Explain 1/4 of Cases of AutismPublished July 9, 2013 in Translational Psychiatry
Antibodies found almost exclusively in mothers with children who have autism have a certain anitbody that may be affecting brain development during pregnancy. The same study says that these antibodies could account for nearly 1/4 of all cases of autism.
Maternal antibodies from mothers of children with autism alter brain growth and social behavior development in the rhesus monkeyPublished July 9, 2013 in Translational Psychiatry
Recent studies have produced findings that suggest that immunoglobulin G (IgG) class antibodies cross the placenta during pregnancy and affect brain development. Researchers believe that this may lead to one form of ASD. The activity of IgG antibodies was monitored in groups of female rhesus monkeys during their first and second trimesters of pregnancy. Results […]
A Cambridge study that used brain imaging samples of individuals with autism, led by Dr. Simon Baron-Cohen, found evidence that autism affects sexes differently. The study showed that women who have the condition demonstrate neuroanatomical masculinization, which suggests that women with autism have more masculine brains. Dr. Baron-Cohen argues that this study reinforces that researchers “should not blindly assume that everything found in males with autism applies to females.”News Article: http://www.cambridge-news.co.uk/Education/Universities/Autism-affects-sexes-differently-20130809000647.htm
Brain imaging study reveals individuals with autism have a ticker cortex with more folds. This suggests that differences in cognitive abilities of people with autism could be due to unique brain structures.
Brain Imaging Study Shows Decreased Production of Chemical Messenger GABA in Individuals with AutismPublished May 23, 2013 in Neuroimage
A new brain imaging study shows that children with autism have low levels of GABA, a chemical that keeps brain signals in check. This is the third study in two years that supports the theory of decreased production of GABA.
A new report questions the evidence for atypical early brain growth in ASD, suggesting reports of abnormal head circumference (HC) growth may be due to a systematic bias in common HC norms rather than dysregulated early brain growth in ASD. The authors encourage future studies to use comparison data from typically developing and clinical control samples and several growth norms in parallel to avoid bias.
This special report from the Simons Foundation looks at neural connectivity theories of autism.
A Quantitative Link between Face Discrimination Deficits and Neuronal Selectivity for Faces in AutismPublished March 15, 2013 in NeuroImage: Clinical
In this fMRI study of adults with ASD, reduced neuronal selectivity for faces was linked to greater behavioral deficits in face recognition.
Autism Spectrum Disorder Is Associated with Ventricular Enlargement in a Low Birth Weight PopulationPublished February 13, 2013 in Journal of Pediatrics
This new study in the Journal of Pediatrics links ventricular enlargement in the brains of low-birth-weight neonates to ASD.
Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X MousePublished February 7, 2013 in Human Molecular Genetics
This paper discusses the role fragile X mental retardation protein (FMRP) plays in protein expression in astrocytes, and suggests that FMRP loss in astrocytes may contribute to the development of fragile X.
MEG study finds diminished long-range and local functional connectivity as individuals with ASD viewed faces. The study challenges the popular assumption that only long-range connectivity is reduced in ASD.
According to this recent meta-analysis of fMRI studies, autism-related changes in brain activity may continue to develop with age.
Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.
Dr. Gabriel Dichter presents a new review of fMRI research in ASD, noting common themes of atypical activation and functional connectivity in the brain.
Four new studies of neuroligin-1 (NLGN1), a gene linked to autism, unravel its complex role in regulating synapses, the connections between neurons.
Neural Mechanisms of Improvements in Social Motivation After Pivotal Response Treatment: Two Case StudiesPublished October 27, 2012 in Journal of Autism and Developmental Disorders
Researchers find increased activation to social stimuli in brain regions involved in social perception in two children with ASD after pivotal response treatment (PRT).
Unpublished data presented at the 2012 Society for Neuroscience annual meeting show at least 30 genes show altered expression in brain tissue of people with autism. The ongoing study aims to include more samples than previous postmortem studies, and includes samples lost in Harvards freezer malfunction.
Announcing the Autism Brain Imaging Data Exchange, a Database of Brain Scans from Over 15 Medical and Research Institutions WorldwidePublished September 24, 2012 in Enhanced Online News
Researchers officially announce the creation of the Autism Brain Imaging Data Exchange, a database of previously collected brain scans from over 15 medical and research institutions worldwide. The founders aim to advance scientific understanding of ASD through this data sharing initiative.
This imaging study led by Carnegie Mellon researchers suggests adults with autism have unreliable neural responses when presented with basic sensory information. University says findings could bring us closer to understanding the connection between brain and behavior in autism. See the press release here: http://www.cmu.edu/news/stories/archives/2012/september/sept19_autisticneuralresponses.html
A new study finds that faulty neuronal circuits in autistic brains can be corrected even after the critical window of brain development.
Early Behavioral Intervention is Associated with Normalized Brain Activity in Young Children with AutismPublished August 31, 2012 in Journal of the American Academy of Child & Adolescent Psychiatry
This randomized trial associated ESDM with normalized brain activity and behavioral improvements in young children with ASD.
“A variety prenatal insults are associated with the incidence of neurodevelopmental disorders such as schizophrenia, autism and cerebral palsy. While the precise mechanisms underlying how transient gestational challenges can lead to later life dysfunctions are largely unknown, the placenta is likely to play a key role. The literal interface between maternal and fetal cells resides in the placenta, and disruptions to the maternal or intrauterine environment are necessarily conveyed to the developing embryo via the placenta. Placental cells bear the responsibility of promoting maternal tolerance of the semiallogeneic fetus and regulating selective permeability of nutrients, gases, and antibodies, while still providing physiological protection of the embryo from adversity. The placenta’s critical role in modulating immune protection and the availability of nutrients and endocrine factors to the offspring implicates its involvement in autoimmunity, growth restriction and hypoxia, all factors associated with the development of neurological complications. In this review, we summarize primary maternal-fetal interactions that occur in the placenta and describe pathways by which maternal insults can impair these processes and disrupt fetal brain development. We also review emerging evidence for placental dysfunction in the prenatal programming of neurodevelopmental disorders.”
Scientists at MIT have found that TAOK2, a gene in the autism-associated chromosomal region, is part of a signaling pathway that builds neuronal connections during development.
The nematode “Caenorhabditis elegans” may serve as a useful model to study synapses, the junctions between neurons.
Differences in the nature of the trajectories of EEG power represent important endophenotypes of ASD.
Researchers led by Dr. Ben Philpot, an ASF funded mentor, at UNC School of Medicine found that seizures in individuals with Angelman syndrome could be linked to an imbalance in brain cell activity. Angelman syndrome exhibits frequent comorbidity with autism spectrum disorders.
Study from Vanderbilt University uses eye-tracking and visual event-related potentials to measure attention to changing facial features in infants at high-risk for developing autism.
Newly Published Genetics/Brain Tissue Study Will Help Refine the Search for Specific Early Genetic Markers of Risk of Autism in Babies and ToddlersPublished March 22, 2012 in PLoS Genetics
A new study of autism published today in PLoS Genetics has discovered abnormal gene activity and gene deletions in the same brain region that also has a 67% overabundance of brain cells. This region the prefrontal cortexis involved in social, emotional, communication and language skills. The finding brings new understanding of what early genetic abnormalities lead to excess brain cells and to the abnormal brain wiring that cause core symptoms in autism. Importantly, the study also shows that gene activity abnormalities in autism change across the lifespan.
A new study from the Infant Brain Imaging Network, which includes researchers at the Center for Autism Research at The Children’s Hospital of Philadelphia (CHOP), found significant differences in brain development starting at age 6 months in high-risk infants who later develop autism, compared to high-risk infants who did not develop autism.
For the first time, scientists have tracked the activity, across the lifespan, of an environmentally responsive regulatory mechanism that turns genes on and off in the brain’s executive hub.
Brain-Derived Neurotrophic Factor: Finding May Have Implications for Rett Syndrome, Other Neurological DisordersPublished January 27, 2012 in Science Daily
Researchers at Oregon Health & Science University have discovered that a molecule critical to the development and plasticity of nerve cells — brain-derived neurotrophic factor (BDNF) — is severely lacking in brainstem neurons in mutations leading to Rett syndrome, a neurological developmental disorder.
Children with autism spectrum disorders (ASD) tend to be fascinated by screen-based technology. A new study by a University of Missouri researcher found that adolescents with autism spend the majority of their free time using non-social media, including television and video-games.
Timothy Syndrome is Associated with Activity-dependent Dendritic Retraction in Rodent and Human NeuronsPublished January 13, 2012 in Nature Neuroscience
Stanford researchers, including ASF Grantee Alex Shcheglovitov, discovered a key mechanism underlying Timothy syndrome, a disorder associated with ASD.
As a psychiatrist and the parent of an adult son with autism, I found In Treating Disabled, Potent Drugs and Few Rules (front page, Dec. 23) to be unfair and detrimental to the families of the developmentally disabled. Although any medication can be inappropriately administered, the wholesale denigration of psychotropic medication for this population is misplaced.
Director of the NIMH Dr. Tom Insel shares the NIMH’s Top 10 Research Advances for 2011.
About half of newborns who have seizures go on to have long-term intellectual and memory deficits and cognitive disorders such as autism, but why this occurs has been unknown. In the December 14 Journal of Neuroscience, researchers at Children’s Hospital Boston detail how early-life seizures disrupt normal brain development, and show in a rat model that it might be possible to reverse this pathology by giving certain drugs soon after the seizure.
While it is still unclear what’s different in the brains of people with autism spectrum disorders, more and more evidence from genetic and cell studies points to abnormalities in how neurons connect to each other.
In the largest study of brain development in preschoolers with autism to date, a study by UC Davis MIND Institute researchers has found that 3-year-old boys with regressive autism, but not early onset autism, have larger brains than their healthy counterparts.
Research just released shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome.
A small study found that male children with autism had larger brain weights and 67% more prefrontal brain neurons than children without autism.
UCLA researchers have found the connections between brain regions that are important for language and social skills grow much more slowly in boys with autism than in non-autistic children…
Autism is far more common in low-birth-weight babies than the general population, researchers are reporting, a significant finding that nevertheless raises more questions than it answers and illustrates how little is known about a group of disorders that affect nearly 1 percent of American children.
Research team from Beth Israel Deaconess Medical Center (BIDMC) has created a genetically engineered mouse with increased dosages of the Ube3 gene. And, like the patients who also harbor increased dosages of this single gene, the genetically engineered mice exhibit robust examples of all three traits considered hallmarks of autism: reduced social interaction, impaired communication and excessive repetitive behaviors. Findings provide further clues in understanding the brain defects that lead to the development of autism, and offer an important tool for future use by scientists and clinicians to test possible drug therapies.
Boys with autism tend to grow faster as babies, with differences from typically developing infants seen in their head size, height and weight, a new study says. Researchers said the findings may offer new clues about the underlying mechanisms of autism. A larger head size probably means the children also have a larger brain.
Evidence found for the genetic basis of autism: Models of autism show that gene copy number controlsPublished October 5, 2011 in Science Daily
Scientists at Cold Spring Harbor Laboratory (CSHL) have discovered that one of the most common genetic alterations in autism — deletion of a 27-gene cluster on chromosome 16 — causes autism-like features. By generating mouse models of autism using a technique known as chromosome engineering, CSHL Professor Alea Mills and colleagues provide the first functional evidence that inheriting fewer copies of these genes leads to features resembling those used to diagnose children with autism.
Infants Given A Social Jump Start By Early Motor Experiences: Study Indicates Infants At Risk For Autism Could Benefit From Motor TrainingPublished September 12, 2011 in Medical News Today
In a new study published in the journal Developmental Science (Epub ahead of print), researchers from the Kennedy Krieger Institute and Vanderbilt University found that early motor experiences can shape infants’ preferences for objects and faces. The study findings demonstrate that providing infants with “sticky mittens” to manipulate toys increases their subsequent interest in faces, suggesting advanced social development. This study supports a growing body of evidence that early motor development and self-produced motor experiences contribute to infants’ understanding of the social world around them. Conversely, this implies that when motor skills are delayed or impaired – as in autism – future social interactions and development could be negatively impacted.
In a new study published today in the journal Developmental Science, researchers from the Kennedy Krieger Institute and Vanderbilt University found that early motor experiences can shape infants’ preferences for objects and faces. The study findings demonstrate that providing infants with “sticky mittens” to manipulate toys increases their subsequent interest in faces, suggesting advanced social development.This study supports a growing body of evidence that early motor development and self-produced motor experiences contribute to infants’ understanding of the social world around them. Conversely, this implies that when motor skills are delayed or impaired – as in autism – future social interactions and development could be negatively impacted.
Researchers have for the first time identified two biologically different strains of autism in a major breakthrough being compared with the discovery of different forms of cancer in the 1960s. The findings, to be announced at an international autism conference in Perth today, are seen as a key step towards understanding the causes of autism and developing effective treatments as well as a cure. The findings bring hope that the communication, socialization and other difficulties that autistic children experience can be tackled more easily and earlier.
Multivariate Searchlight Classification of Structural Magnetic Resonance Imaging in Children and Adolescents with AutismPublished September 5, 2011 in Biological Psychiatry
Multiple brain regions, including those belonging to the default mode network, exhibit aberrant structural organization in children with autism. Brain-based biomarkers derived from structural magnetic resonance imaging data may contribute to identification of the neuroanatomical basis of symptom heterogeneity and to the development of targeted early interventions.
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.
This study examined mouse neuronal cells during pregnancy to discover how the drug actually interferes at a molecular level with prostaglandins, which are important for development and communication of cells in the brain.
In 2005, researchers from the University of North Carolina at Chapel Hill found that 2-year-old children with autism have brains up to 10 percent larger than children of the same age without autism. A follow-up study by UNC researchers has found that the children who had enlarged brains at age 2 continued to have enlarged brains at ages 4 and 5, but the amount of the enlargement was to the same degree found at age 2. This increased brain growth did not continue beyond 2 years of age and the changes detected at age 2 were due to overgrowth prior to that time point. In addition, the study found that the cortical enlargement was associated with increased folding on the surface of the brain (or increased surface area) and not an increase in the thickness of outer layer of the brain (or gray matter).
Researchers at UCLA used fMRI to examine the neural mechanisms involved in social interactions in autism spectrum disorders in order to provide insight into the social attention impairments that characterize the disorder. Researchers examined children and adolescents with ASD with social and nonsocial cues. Data revealed that in typically developing individuals, there was greater responsiveness […]
BACKGROUND: Models of autism spectrum disorders (ASD) as neural disconnection syndromes have been predominantly supported by examinations of abnormalities in corticocortical networks in adults with autism. A broader body of research implicates subcortical structures, particularly the striatum, in the physiopathology of autism. Resting state functional magnetic resonance imaging has revealed detailed maps of striatal circuitry […]
It seems that the place where your brain transfers electricity between synapses and how your genes determine how these processes function, are tied to autism in one way or another. There can be genetically driven disturbances in this process that lead to varying levels of autism according to a new study of DNA from approximately 1,000 autistic children and their kin.
Scientists funded by Microsoft Corp. co-founder Paul Allen unveiled a $55 million computerized atlas of the human brain Tuesday, offering the first interactive research guide to the anatomy and genes that animate the mind.A project of the Seattle-based Allen Institute for Brain Science, the online atlas offers researchers a powerful new tool to understand where and how genes are at work in the brain. That could help them find new clues to conditions rooted in the brain, such as Alzheimer’s disease, autism and mental-health disorders like depression.
Led by the neurologist Dr. Patrick Cossette, the research team found a severe mutation of the synapsin gene (SYN1) in all members of a large French-Canadian family suffering from epilepsy, including individuals also suffering from autism.
Parts of the brains of people with autism are more active in areas that deal with visual detection and identification and less in areas for decision making, planning and execution, and cognitive control, researchers from the University of Montreal revealed in the journal Human Brain Mapping. Dr. Laurent Mottron, at CETEDUM (University of Montreal’s Centre for Excellence in Pervasive Development Disorders) believes their findings explain why most people with autism tend to be extremely good at visual tasks.
By mutating a single gene, researchers at MIT and Duke have produced mice with two of the most common traits of autism – compulsive, repetitive behavior and avoidance of social interaction. In this study, the researchers focused on one of the most common of those genes, known as shank3. Shank3 is found in synapses – the junctions between brain cells that allow them to communicate with each other. Feng, who joined MIT and the McGovern Institute last year, began studying shank3 a few years ago because he thought that synaptic proteins might contribute to autism and similar brain disorders, such as obsessive compulsive disorder.
New research on the genomics of autism confirms that the genetic roots of the disorder are highly complicated, but that common biological themes underlie this complexity. In the current study, researchers have implicated several new candidate genes and genomic variants as contributors to autism, and conclude that many more remain to be discovered. While the gene alterations are individually very rare, they mostly appear to disrupt genes that play important functional roles in brain development and nerve signaling.
This research on the genomics of autism confirms that the genetic roots of the disorder are highly complicated, but that common biological themes underlie this complexity. In the current study, researchers have implicated several new candidate genes and genomic variants as contributors to autism, and conclude that many more remain to be discovered. While the […]
Surprising View of Brain Formation: Discovery of a New Mechanism May Have Implications for a Host of DiseasesPublished February 10, 2011 in Science Daily
A study from The Scripps Research Institute has unveiled a surprising mechanism that controls brain formation. In the new study, Mueller and colleagues focused on a protein called reelin. They found reelin is a key player in the migration of new nerve cells to the neocortex, the part of the brain responsible for higher-order functions, such as language and movement. The findings have implications for understanding a host of diseases, including some forms of mental retardation, epilepsy, schizophrenia, and autism.
A study from MIT neuroscientists reveals that high-functioning autistic adults appear to have trouble using theory of mind to make moral judgments in certain situations. Specifically, the researchers found that autistic adults were more likely than non-autistic subjects to blame someone for accidentally causing harm to another person. This shows that their judgments rely more on the outcome of the incident than on an understanding of the person’s intentions, says Liane Young, an MIT postdoctoral associate and one of the lead authors of the study.
Head movements taint the results of many brain imaging studies, particularly those analyzing children or individuals with autism. Thats the sobering message from two independent studies published over the past few months in NeuroImage.
Researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have shown for the first time that neural stem cells, the cells that give rise to neurons, maintain high levels of ROS to help regulate normal self-renewal and differentiation. These findings may have significant implications for brain repair and abnormal brain development.
This study examined the rates of autism according to maternal immigrant status and ethnic origins based on the vitamin D insufficiency hypothesis, which proposes that maternal vitamin D insufficiency during pregnancy could be associated with autism. The study provided further support to the association between maternal immigrant status and an increased risk of autism. In […]
Newly published research led by Professor Z. Josh Huang, Ph.D., of Cold Spring Harbor Laboratory (CSHL) sheds important new light on how neurons in the developing brain make connections with one another. This activity, called synapse validation, is at the heart of the process by which neural circuits self-assemble, and is directly implicated in pathology that gives rise to devastating neurodevelopmental disorders including autism and schizophrenia.
A Set Of Brain Proteins Is Found To Play A Role In Over 100 Brain Diseases And Provides A New Insight Into Evolution Of BehaviorPublished December 21, 2010 in Medical News Today
In research just published, scientists have studied human brain samples to isolate a set of proteins that accounts for over 130 brain diseases. The paper also shows an intriguing link between diseases and the evolution of the human brain.
Researchers from Mount Sinai School of Medicine have found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning. This discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders (ASDs). The research is currently published in Molecular Autism.
Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2Published December 1, 2010 in Pediatrics, Scott-Van Zeeland et al
People with a common variant of the CNTNAP2 gene, a gene associated with a heightened risk of autism, ADD/ADHD and other language difficulties, have a "disconnect" between their frontal lobe and other areas of the brain important for language, according to this fMRI study. The disconnect may help explain some of the language and communication […]
A post-mortem investigation measuring features of the different axons traveling beneath the cortical surface. The crux of the study is whether in autism there are changes in axons, "which are the conduit for neural communication." In comparison to control samples, autism brain tissue had fewer large axons connecting regions of the prefrontal cortex to the […]
Smoking during pregnancy may interfere with brain development. New animal research shows maternal smoking affects genes important in the formation and action of a fatty brain substance called myelin that insulates brain cell connections. The finding may explain why the children of mothers who smoked during pregnancy are more likely to develop attention deficit hyperactivity disorder, depression, autism, drug abuse, and other psychiatric disorders.
An autism study by Yale School of Medicine researchers using functional magnetic resonance imaging (fMRI) has identified a pattern of brain activity that may characterize the genetic vulnerability to developing autism spectrum disorder (ASD). The team identified three distinct “neural signatures”: trait markers — brain regions with reduced activity in children with ASD and their unaffected siblings; state markers — brain areas with reduced activity found only in children with autism; and compensatory activity — enhanced activity seen only in unaffected siblings. The enhanced brain activity may reflect a developmental process by which these children overcome a genetic predisposition to develop ASD.
A team from the University of California, San Diego, and the Salk Institute for Biological Studies devised a way to study brain cells from patients with autism, and found a way reverse cellular abnormalities in neurons that have been associated with autism, specifically Rett Syndrome.
Researchers at UCLA have discovered how an autism-risk gene rewires the brain, which could pave the way for treatments aimed at rebalancing brain circuits during early development. Dr. Geschwind and team examined the variations in brain function and connectivity resulting from two forms of the CNTNAP2 gene – one form of the gene increases the risk of autism. The researchers suspected that CNTNAP2 might have an important impact on brain activity. They used fMRI (functional magnetic resonance imaging) to scan 32 children’s brains while they were performing tasks related to learning. Only 16 of them had autism.The imaging results confirmed their suspicions. All the children with the autism-risk gene showed a disjointed brain, regardless of their diagnosis. Their frontal lobe was over-connected to itself, while connection to the rest of the brain was poor, especially with the back of the brain. There was also a difference between how the left and right sides of the brain connected with each other, depending on which CNTNAP2 version the child carried.The authors believe their findings could help identify autism risk earlier, and eventually lead to interventions that could enhance connections between the frontal lobe and the left side of the brain.
University of Utah (U of U) medical researchers have uncovered a wiring diagram that shows how the brain pays attention to visual, cognitive, sensory, and motor cues. The research provides a critical foundation for the study of abnormalities in attention that can be seen in many brain disorders such as autism, schizophrenia, and attention deficit […]
A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem CellsPublished November 1, 2010 in Cell, Marchetto et al
Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we recapitulate early stages of a human neurodevelopmental disease, using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts, which essentially creates a "disease in a […]
Insight into the role that MHC plays in the nervous system and may enhance our understanding of the factors that can contribute to neuropsychiatric disorders like autism and schizophrenia. Increased levels of a protein called major histocompatibility complex, or MHC, in fetal neurons may be a factor development of autism or schizophrenia.
A pregnant woman’s immune response to viral infections may induce subtle neurological changes in the unborn child that can lead to an increased risk for neurodevelopmental disorders including schizophrenia and autism.
By creating a better way to see molecules at work in living brain cells, researchers affiliated with MIT’s Picower Institute for Learning and Memory and the MIT Department of Chemistry are helping elucidate molecular mechanisms of synapse formation. These studies could also help further understanding of how synapses go awry in developmental diseases such as autism and Fragile X syndrome.
Full-term neonates with jaundice are at greatly increased risk of later being diagnosed with a disorder of psychological development, a Danish study found. Neonatal jaundice typically is caused by increased bilirubin production and inadequate liver excretory function. Recent research has suggested that even moderate bilirubin exposure in very young children can be harmful, possibly leading to impairments in their development. They found that jaundice was more common among boys, infants born preterm, infants with congenital malformations, and low-birthweight infants.
Now research from Northwestern University suggests a new way of training that could reduce by at least half the effort previously thought necessary to make learning gains. They suggest combining periods of practice may alone be too brief to cause learning with periods of mere exposure to perceptual stimuli.
Researchers at the Center for Neuroscience Research at Children’s National Medical Center have discovered that the two major types of signaling pathways activated during brain cell development. This knowledge may help scientists design new ways to induce the brain to repair itself when these signals are interrupted, and indicate a need for further research to determine whether disruptions of these pathways in early brain development could lead to common neurodevelopmental disorders such as epilepsy, cerebral palsy, autism, Down syndrome, ADHD, and intellectual disabilities.
If a boy’s X-chromosome is missing the PTCHD1 gene or other nearby DNA sequences, they will be at high risk of developing ASD or intellectual disability. Girls are different in that, even if they are missing one PTCHD1 gene, by nature they always carry a second X-chromosome, shielding them from ASD.
A clue to the causes of autism and mental retardation lies in the synapse, the tiny intercellular junction that rapidly transfers information from one neuron to the next. According to neuroscientists at Tufts University School of Medicine, with students from the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called APC (adenomatous polyposis coli) plays a key role in synapse maturation, and APC dysfunction prevents the synapse function required for typical learning and memory.
Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing ? a new gene scanning technology that cuts the cost and time of searching for rare mutations. Whole exome sequencing can be applied to dozens of other rare genetic disorders where the culprit genes have so far evaded discovery. Such information can help couples assess the risk of passing on genetic disorders to their children. It can also offer insights into disease mechanisms and treatments.
For more than a century, clinical investigators have focused on early life as a source of adult psychopathology. Although the hypothesized mechanisms have evolved, a central notion remains: early life is a period of unique sensitivity during which experience confers enduring effects.
Two University of Iowa biologists have published a paper on how cells make specific interactions during development — in the hope of one day learning more about human developmental disorders.
Cascades of genetic signals determine which neurotransmitter a brain cell will ultimately use to communicate with other cells. Now a pair of reports from biologists at the University of California, San Diego, have shown for the first time that electrical activity in these developing neurons can alter their chemical fate — and change an animal’s behavior — by tweaking this genetic program.
Timely vaccination during infancy has no adverse effect on neuropsychological outcomes 7 to 10 years later. These data may reassure parents who are concerned that children receive too many vaccines too soon.
Sleeping newborns are better learners than thought, says a University of Florida researcher about a study that is the first of its type. The study could lead to identifying those at risk for developmental disorders such as autism and dyslexia.
Yeon-Kyun Shin, professor of biochemistry, biophysics and molecular biology at ISU, has shown that the protein called synaptotagmin1 (Syt1) is the sole trigger for the release of neurotransmitters in the brain. Shin believes his discovery may be useful in understanding brain malfunctions such as autism, epilepsy and others.
Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the “pruning” of nerve connections in the brain. They found Fragile X is caused by a mutation in a single gene, Fmr1, on the X chromosome. The gene codes for a protein called FMRP, which plays a role in learning and memory but whose full function is unknown. The protein’s role in pruning nerve connections had been unclear.
New research from the lab of Michael Greenberg, Nathan Marsh Pusey professor and chair of neurobiology at HMS, in collaboration with bioinformatics specialist and neuroscientist Gabriel Kreiman, assistant professor of ophthalmology at Children’s Hospital, Boston, has found that a particular set of RNA molecules widely considered to be no more than a genomic oddity are actually major players in brain development – and are essential for regulating the process by which neurons absorb the outside world into their genetic machinery.
A new study, the first of its kind, combines two complementary analytical brain imaging techniques to provide a more comprehensive and accurate picture of the neuroanatomy of the autistic brain.
Neuroscientists believe this “mirroring” is the mechanism by which we can “read” the minds of others and empathize with them. It’s how we “feel” someone’s pain, how we discern a grimace from a grin, a smirk from a smile. Problem was, there was no proof that mirror neurons existed — only suspicion and indirect evidence. Dr. Itzhak Fried, a UCLA professor of neurosurgery and of psychiatry and biobehavioral sciences, Roy Mukamel, a postdoctoral fellow in Fried’s lab, and their colleagues have for the first time made a direct recording of mirror neurons in the human brain.It’s suspected that dysfunction of these mirror cells might be involved in disorders such as autism, where the clinical signs can include difficulties with verbal and nonverbal communication, imitation and having empathy for others. So gaining a better understanding of the mirror neuron system might help devise strategies for treatment of this disorder.
Two genes have been associated with autistic spectrum disorders (ASD) in a new study of 661 families. Researchers writing in BioMed Central’s newly launched journal Molecular Autism found that variations in the genes for two brain proteins, LRRN3 and LRRTM3, were significantly associated with susceptibility to ASD.
New research finds that the brains of infants as young as 7 months old demonstrate a sensitivity to the human voice and to emotions communicated through the voice that is remarkably similar to what is observed in the brains of adults.
Longitude Magnetic Resonance Imaging Study of Cortical Development Through Early Childhood in AutismPublished March 1, 2010 in Journal of Neuroscience, Courchesne et al
The first longitudinal study of brain growth in toddlers at the time symptoms of autism are becoming clinically apparent using structural MRI scans at multiple time points beginning at 1.5 years up to 5 years of age. They collected 193 scans on 41 toddlers who received a confirmed diagnosis of autistic disorder at approximately 48 […]
Scientists studying the anatomy of children’s brains during reading discovered something rather unexpected: Remedial training for poor readers results in a growth of white matter tracts in the brain, and the increase correlates with the level of improvement in sounding out words.
At a Feb. 20 press briefing held during the American Association for the Advancement of Science annual meeting, a Northwestern University neuroscientist argued that music training has profound effects that shape the sensory system and should be a mainstay of K-12 education. Kraus presented her own research and the research of other neuroscientists suggesting music education can be an effective strategy in helping typically developing children as well as children with developmental dyslexia or autism more accurately encode speech.
Children with poor reading skills who underwent an intensive, six-month training program to improve their reading ability showed increased connectivity in a particular brain region, in addition to making significant gains in reading, according to a study funded in part by the National Institute of Mental Health (NIMH).
Researchers at the University of North Carolina at Chapel Hill School of Medicine have found that the 22q11 gene deletion — a mutation that confers the highest known genetic risk for schizophrenia — is associated with changes in the development of the brain that ultimately affect how its circuit elements are assembled.The researchers would now like to figure out how these alterations in the circuitry of the brain affect the behavior of the mouse. They also hope that understanding the “mis-wiring” of the brain in a genetic animal model of schizophrenia would help them understand the causes of the disease in the general population
Scientific understanding and medical treatments for autism spectrum disorders (ASDs) have advanced significantly over the past several years, but much remains to be done, say experts from the Center for Autism Research at The Children’s Hospital of Philadelphia who recently published a scientific review of the field.
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility GenesPublished June 1, 2009 in PLOS Genetics, Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, et al.
The study identified 27 different genetic regions where rare copy number variations – missing or extra copies of DNA segments – were found in the genes of children with autism spectrum disorders, but not in the healthy controls. The researchers, including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of […]
In three new studies — including one appearing in the Public Library of Science – Biology (PLoS – Biology) — UC Davis researchers provide compelling evidence of how low levels of polychlorinated biphenyls (PCBs) alter the way brain cells develop. The findings could explain at last — some 30 years after the toxic chemicals were […]
Axon formation is fundamental for brain development and function. TSC1 and TSC2 are two genes, mutations in which cause tuberous sclerosis complex (TSC), a disease characterized by tumor predisposition and neurological abnormalities including epilepsy, mental retardation, and autism. Here we show that Tsc1 and Tsc2 have critical functions in mammalian axon formation and growth. Overexpression […]
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is frequently associated with mental retardation, autism and epilepsy. Even individuals with tuberous sclerosis and a normal intelligence quotient (approximately 50%) are commonly affected with specific neuropsychological problems, including long-term and working memory deficits. Here we […]
Autism is a profound disorder of neurodevelopment with poorly understood biological origins. A potential role for maternal autoantibodies in the etiology of some cases of autism has been proposed in previous studies To investigate this hypothesis, maternal plasma antibodies against human fetal and adult brain proteins were analyzed by western blot in 61 mothers of […]