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Autism's origins lie hidden in a perplexing maze of behaviors and biology. Step by step, researchers are finding their way inside.  By Kristin Sainani - Ricardo Dolmetsch was studying the basic biology of nerve cells when two events propelled him into autism research. In 2004, a mutation in one of the proteins he specialized in was pinpointed as the cause of Timothy syndrome, a rare genetic disorder associated with autism. Then in 2006, Dolmetsch's oldest son, who was 4, was diagnosed with autism.

Patients With A Rare Condition Associated With Autism Found To Have Altered Nerve-Fiber Pathways - It's still unclear what's different in the brains of people with autism spectrum disorders (ASDs), but evidence from genetic and cell studies points to abnormalities in how brain cells (neurons) connect to each other. A study at Children's Hospital Boston now provides visual evidence associating autism with a disorganized structure of brain connections, as well as defects in myelin -- the fatty, insulating coating that helps nerve fibers conduct signals and that makes up the brain's white matter.

Face Recognition Research May Aid Therapies For Prosopagnosia And Autism - "Face recognition is an important social skill, but not all of us are equally good at it," says Beijing Normal University cognitive psychologist Jia Liu. But what accounts for the difference? A new study by Liu and colleagues Ruosi Wang, Jingguang Li, Huizhen Fang, and Moqian Tian provides the first experimental evidence that the inequality of abilities is rooted in the unique way in which the mind perceives faces. "Individuals who process faces more holistically" - that is, as an integrated whole - "are better at face recognition," says Liu. The findings will appear in an upcoming issue of Psychological Science, a journal published by the Association for Psychological Science.

Some Kids With Autism Spectrum Disorder Benefit From Training Peers - Children with autism spectrum disorder (ASD) who attend regular education classes may be more likely to improve their social skills if their typically developing peers are taught how to interact with them than if only the children with ASD are taught such skills. According to a study funded by the National Institutes of Health, a shift away from more commonly used interventions that focus on training children with ASD directly may provide greater social benefits for children with ASD. The study was published online ahead of print in the Journal of Child Psychology and Psychiatry.

Brain Enlargement Seen In Boys With Regressive Autism, But Not Early Onset Autism - 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.
 

Defect In Brain Cell Channel Identified That May Cause Autism-Like Syndrome - Neuroscientists at Stanford University School of Medicine have homed in on potential differences in autistic people's brain cells by studying brainlike spheres grown in an elaborate process from skin cells.

Two Opposing Brain Malfunctions Cause Two Autism-related Disorders - Although several disorders with autism-like symptoms, such as the rare Fragile X syndrome can be traced to a single specific mutation, the majority of autism spectrum disorder (ASD) incidents, however, are caused by several genetic mutations. MIT neuroscientist, Mark Bear, discovered a few years ago that this mutation results in an overproduction of proteins found in brain synapses.

Missing Synapse Protein Linked To Abnormal Behaviors - Although many mental illnesses are uniquely human, animals sometimes exhibit abnormal behaviors similar to those seen in humans with psychological disorders. Such behaviors are called endophenotypes. Now, researchers at the California Institute of Technology (Caltech) have found that mice lacking a gene that encodes a particular protein found in the synapses of the brain display a number of endophenotypes associated with schizophrenia and autism spectrum disorders.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result - In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, a rare disorder with autism-like symptoms, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses, the connectors that allow brain cells or neurons to communicate with one another. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis, another rare disease that leads to autism and intellectual disability, is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.

How Meditation Benefits The Brain - Experienced meditators seem to be able switch off areas of the brain associated with daydreaming as well as psychiatric disorders such as autism and schizophrenia, according to a new brain imaging study by Yale researchers.
 

How The Brain's Structure And Genes Affect Autism And Fragile X Syndrome - Research just released shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome. These studies show in new detail how the brain's connections, chemicals, and genes interact to affect behavior. The research findings were presented at Neuroscience 2011, the Society for Neuroscience's annual meeting and the world's largest source of emerging news about brain science health.
 

Novel Therapy Helps Nonverbal Children With Autism To Say First Words - new treatment can help nonverbal children with autism to develop speech, according to a proof-of-concept study led by researchers at Beth Israel Deaconess Medical Center (BIDMC).

Diagnosing Autism Varies From Clinic To Clinic - A new study published in the journal Archives of General Psychiatry suggests that the current gold standard of "best-estimate clinical diagnoses" for the diagnosis of autism spectrum disorders may not be the best method of diagnosis. Under the current method, clinicians commonly perform a variety of tests, use scales and information from observations as well as parent interviews to classify individuals into subcategories listed in standard psychiatric diagnostic manuals, however, according to the study, these diagnosing tools are widely available across centers which leads researchers to suggest that this may not be the best method to diagnose autism spectrum disorders.

Study Suggests Common Diagnostic Subcategories For Autism, Like Asperger Syndrome, Are Flawed And Provide Questionable Value - To diagnose autism spectrum disorders, clinicians typically administer a variety of tests or scales and use information from observations and parent interviews to classify individuals into subcategories listed in standard psychiatric diagnostic manuals. This process of forming "best-estimate clinical diagnoses" has long been considered the gold standard, but a new study demonstrates that these diagnoses are widely variable across centers, suggesting that this may not be the best method for making diagnoses.

Autism Linked With Excess Of Neurons In Prefrontal Cortex - A study by researchers at the University of California, San Diego Autism Center of Excellence shows that brain overgrowth in boys with autism involves an abnormal, excess number of neurons in areas of the brain associated with social, communication and cognitive development.

Researchers Identify Epigenetic Signatures Of Autism - Scientists at the University of Massachusetts Medical School are the first to map epigenetic changes in neurons from the brains of individuals with autism, providing empirical evidence that epigenetic alterations - changes in gene expression caused by mechanisms other than changes in the underlying DNA sequence - may play an important role in the disease.

67% More Prefrontal Brain Neurons In Children With Autism - A small study found that male children with autism had larger brain weights and 67% more prefrontal brain neurons than children without autism, scientists from the NIH-UCSD School of Medicine Autism Center of Excellence, La Jolla, Calif., reported in JAMA (Journal of the American Medical Association). The small preliminary study compared 7 children with autism to 6 healthy controls - they were aged from 2 to 16 years.

Best-Estimate Clinical Diagnosis Of Autism Spectrum Disorders Vary Widely - The way Best-Estimate Clinical Diagnoses within ASDs (autism spectrum disorders) that are assigned to pediatric patients seems to vary widely, researchers from Weill Cornell Medical College, New York reported after carrying out a study at 12 university-based research sites. Their study is published in this weeks' Archives of General Psychiatry.

Prefrontal Cortex Epigenetic Signatures In Brain Tissue Of People With Autism - Neurons change at various sites across the genome in the prefrontal cortex of people with autism, researchers from the University of Massachusetts Medical School, Worcester, reported in Archives of General Psychiatry. The scientists said they identified changes in chromatin structures at hundreds of locations across the genome. Chromatin is essentially the substance of chromosomes.

TBL1X Gene Involved In Autism Spectrum Disorder - Autism Spectrum Disorder (ASD) affects about 1 in 100 children resulting in a range of problems in language, communication and understanding other people's emotional cues, all of which can lead to difficulties in social situations. Boys are three to four more times as likely to be affected as girls and consequently it has been suggested that the genes involved in this disorder may be linked to the X chromosome. New research published in BioMed Central's open access journal Molecular Autism used genome wide association study (GWAS) data to find a variation in the gene for transducin ß-like 1X-linked (TBL1X) which is associated with increased risk of ASD in boys.

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

Airway Abnormality, A Possible Link To Autism - Autism and autistic spectrum disorders (ASD) are currently diagnosed primarily through subjective observation of autistic behaviors. However, new research, presented at CHEST 2011, the 77th annual meeting of the American College of Chest Physicians (ACCP), suggests that a physical abnormality in the airway may be a prominent indicator for autism and autistic spectrum disorders, making it a possible diagnostic marker for this disease.

Imaging Study Shows Slower Growth In Autistic Brains Extending Into Adolescence - Researchers at UCLA have found a possible explanation for why autistic children act and think differently than their peers. For the first time, they've shown that 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.
 

Facial Characteristics For Autism Identified - The face and brain develop in coordination, with each influencing the other, beginning in the embryo and continuing through adolescence. Now, University of Missouri researchers have found distinct differences between the facial characteristics of children with autism compared to those of typically developing children. This knowledge could help researchers understand the origins of autism.
 

Study Implicates Hyperinsulinemia In Increased Incidence Of Autism - A review of the genetic and biochemical abnormalities associated with autism reveals a possible link between the widely diagnosed neurological disorder and Type 2 diabetes, another medical disorder on the rise in recent decades.

Having A Child With Autism Linked To Genetic Variant And Autoantibodies: Finding May Lead To Screening Test - A study by researchers at UC Davis has found that pregnant women with a particular gene variation are more likely to produce autoantibodies to the brains of their developing fetuses and that the children of these mothers are at greater risk of later being diagnosed with autism. The finding is the first to demonstrate a genetic mechanism at play in the development of the neurodevelopmental disorder among some children -- offering the possibility of a genetic test for some women at risk for having a child with autism, said Judy Van de Water, an immunologist and the study's co-principal investigator. "Association of a MET genetic variant with autism-associated maternal autoantibodies to fetal brain proteins and cytokine expression," is published online today in the journal Translational Psychiatry, a Nature publication. "Our study gives strong support for the idea that, in at least some cases, autism results from maternal immunity gone overboard," said Judy Van de Water, a professor of internal medicine and a researcher affiliated with the UC Davis MIND Institute. "This is the first time that a genetic factor known to be important in autism and its effects have been demonstrated."

Diagnosiing Autism At A Younger Age Could Lead To Earlier Interventions - Autism is normally diagnosed between the ages of 2 and 3. But new research is finding symptoms of autism spectrum disorders in babies as young as 12 months. If children could be diagnosed earlier, it might be possible to help them earlier - and maybe even stop them from developing autism, according to the author of a new paper published in Current Directions in Psychological Science, a journal of the Association for Psychological Science.
 

New Finding Provides Insight Into The Psychology Of Autism-Spectrum Disorders - People with autism process information in unusual ways and often have difficulties in their social interactions in everyday life. While this can be especially striking in those who are otherwise high functioning, characterizing this difficulty in detail has been challenging. Now, researchers from the California Institute of Technology (Caltech) have isolated a very specific difference in how high-functioning people with autism think about other people, finding that - in actuality - they don't tend to think about what others think of them at all.

Evidence For The Genetic Basis Of Autism: Mouse Models Show That Gene Copy Number Controls Brain Structure And Behavior - 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. The study appears in the Proceedings of the National Academy of Sciences in the early online edition during the week of October 3.

Gauging Autistic Intelligence: Asperger Syndrome - Autism spectrum disorders, including Asperger syndrome, have generally been associated with uneven intellectual profiles and impairment, but according to a new study of Asperger individuals published in the online journal PLoS ONE, this may not be the case - as long as intelligence is evaluated by the right test. Both autistic and Asperger individuals display uneven profiles of performance in commonly used intelligence test batteries such as Wechsler scales, and their strongest performances are often considered evidence for deficits.

Promising Drug Treatment For Improving Language, Social Function In People With Autism - Most drug therapy interventions for people with autism have targeted psychiatric problems, including aggression, anxiety and obsessive behavior. Now, University of Missouri researchers are examining the use of propranolol (a drug used to treat high blood pressure and control heart rate as well as to reduce test anxiety) to improve the primary traits associated with autism - difficulty with normal social skills, language and repetitive behaviors. MU researchers say the drug is a promising new avenue for improving language and social function.

Quality Of Life For Individuals With Autism Worsened By Attention Deficit And Hyperactivity Symptoms - Research supported by the Autism Speaks Autism Treatment Network (ATN), demonstrating that symptoms of attention deficit and hyperactivity worsen quality of life for individuals with autism spectrum disorders (ASD), was presented at the Society for Developmental & Behavioral Pediatrics Annual Meeting in San Antonio, Texas. Researchers Parul Vora, M.D., developmental-behavioral pediatric fellowat Nationwide Children's and Darryn Sikora, Ph.D., Director of the Autism Program at Oregon Health Sciences University, used data exclusively from the ATN Registry to examine whether the presence of symptoms of attention deficit hyperactivity disorder (ADHD) might have additional impact on the adaptive functioning and quality of life of children and adolescents with ASD. After reviewing measures of attention and hyperactivity, and measures of quality of life, for over 2,000 children and adolescents with ASD, they found that over half of this group had symptoms of either attention or hyperactivity problems. More than a third had significant symptoms of both.

Children With Autism And Gastrointestinal Symptoms Have Altered Digestive Genes - Researchers at the Center for Infection and Immunity (CII) at Columbia University's Mailman School of Public Health and at the Harvard Medical School report that children with autism and gastrointestinal disturbances have altered expression of genes involved in digestion. These variations may contribute to changes in the types of bacteria in their intestines.

Autism - First Biologically Distinct Subtypes Of Brain Development Uncovered - Today it was announced, that the world's biggest and most comprehensive investigation of children with autism has uncovered the first biologically distinct subtypes of brain development in the condition.

Infants Given A Social Jump Start By Early Motor Experiences: Study Indicates Infants At Risk For Autism Could Benefit From Motor Training - 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.

Scientists Reveal That Seeing Eye To Eye Is Key To Copying, With Implications For Autism Research - Imitation may be the sincerest form of flattery but how do our brains decide when and who we should copy? Researchers from The University of Nottingham have found that the key may lie in an unspoken invitation communicated through eye contact.
 

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