Research News

Scroll through recent research or click the category icon to the right of each title for similar research summaries. If you would like more background context on a particular piece of research, please click the link next to the “Reading Room Guide,” the small character at the bottom-left of each research story. He will transport you to the appropriate page in Autism Reading Room. You can access original publication sources and other popular media articles by clicking the news buttons at the bottom-right of each summary.

Very Early Therapy Eases ASD Symptoms, Study Suggests

By Shana R. Spindler, PhD on September 16, 2014

 

News Brief: Researchers at the University of California, Davis, MIND Institute report a promising behavioral therapy for Autism Spectrum Disorder (ASD), called Infant Start. Based on the Early Start Denver Model, Infant Start is a parent-led behavioral intervention that emphasizes parent-child social interactions from infancy.

 

Symptomatic infants between seven and 15 months of age, and their parents, participated in a 12-week, low-intensity pilot program. During weekly sessions, highly trained therapists coached parents in individualized behavioral therapies, which parents continued in the home environment. By 18 months, the children who participated in Infant Start had significantly fewer autism symptoms than the children of families who chose not to enroll in the pilot study. To learn more about this promising study, please click the “Source(s)” links below.


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Possible Autism Biomarker in Tiny Regulators

By Shana R. Spindler, PhD on September 10, 2014
miRNA

 

Background: Several studies have shown that early intervention helps children with Autism Spectrum Disorder (ASD) improve critical social and language skills. Unfortunately, doctors still lack a non-behavioral clinical test to find out if a child has or will develop ASD. Diagnosis is therefore delayed until the child reveals social or language deficits, usually by two to four years of age. Researchers are now searching for autism biomarkers, an objective measurement that can predict the likelihood that a child has autism, even before behavioral symptoms used for diagnosis appear.

 

What’s new: A group of Japanese researchers report in Molecular Autism that a new class of small gene regulators, called microRNAs (miRNAs), may help predict ASD. The team of scientists found that individuals with autism had higher levels of eight specific miRNAs in serum samples compared to control individuals. In contrast, five miRNAs showed lower levels in those with autism. MicroRNAs are like little zip ties that bind gene products to control the cell from making certain proteins. The researchers identified several proteins involved in neuron biology among the protein targets affected by the miRNAs in this study.

 

Why it’s important: To date, the medical community lacks a biomarker of any type for autism. This is the first study to show that specific miRNAs are found at different levels in the serum of those with autism versus controls. Serum collection is a relatively safe and noninvasive procedure. These results suggest that the measurement of serum miRNAs may serve as a biomarker for autism, but additional studies are needed to confirm this finding.


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Virtual Reality May Ease Fears in Autistic Youth

By Chelsea E. Toledo, M.A. on August 25, 2014

VRE

 

Background: Anxiety is one of the most common conditions to occur alongside Autism Spectrum Disorder (ASD) in children and adolescents with the disorder. The condition can manifest in the form of specific phobias, such as fear of riding in cars or fear of birds. These phobias can interfere with daily life and exacerbate the core symptoms of ASD.

 

What’s New: On July 2, 2014, the digital journal PLOS ONE published a paper evaluating an emerging technique to address anxiety in young people with ASD. For the study, nine boys aged 7 to 13 underwent cognitive behavioral therapy (CBT)—an existing treatment approach shown to reduce anxiety associated with ASD—together with five sessions in a proprietary virtual reality environment (VRE). Anxiety questionnaires administered periodically in the 16 months following the treatment revealed that eight of the nine participants were newly able to tackle their specific phobias, and four overcame them completely.

 

Why it’s important: This study lends support to previous findings that CBT can be effective in reducing anxiety in young people with ASD. Importantly, a combination therapy of CBT and VRE could be more effective than a single therapy. Future research using a control group could validate CBT in conjunction with VRE as an effective therapy to address specific phobias.


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Making Connections: Target Practice

By Chelsea E. Toledo, M.A. on August 13, 2014
neuron birth order_2

 

Background: An adult’s brain contains billions of nerve cells, called neurons, intricately connected to carry the signals controlling our senses and behaviors. During embryonic development, the nervous system begins to take shape around the fifth week of clinical gestation. Very little research has demonstrated how neurons of this early nervous system establish proper connections in the healthy brain – and how mistakes may lead to neurological disorders.

 

What’s New: On July 31, 2014, a study exploring the birth order of nerve cells appeared in the journal Cell Reports online ahead of print. The researchers focused on the cells connecting the eyes to the brain—called retinal ganglion cells (RGCs)—in mice. They found that early-born RGCs  sampled many sites before establishing their final connection with other brain cells. By contrast, later-born RGCs were selective from the start in establishing neurological connections.

 

Why it’s important: This study suggests that the order in which brain cells form is important to how neurons establish proper neurological configuration. Future studies could determine whether the neurological dysfunction observed in disorders like autism are linked to differences in brain cells’ birth order.


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Study Finds Promise for Steroids in Regressive Autism

By Shana R. Spindler, PhD on July 31, 2014
corticosteroid

 

Background: About a third of children with Autism Spectrum Disorder (ASD) experience a period of normal early development followed by loss of previously acquired language and social skills. While no evidence-based treatments exist for this type of regressive autism (R-ASD), some doctors have reported that corticosteroid use improves language and behavior scores. Corticosteroids are chemicals that mimic hormones naturally produced by the body. They act by suppressing inflammation and the immune system.

 
What’s new: From a large database of patients, researchers identified twenty children who had received steroid treatments to investigate if corticosteroids benefit children with R-ASD. Twenty four non-treated ASD children were used for comparison. Their study found that children with R-ASD who had received corticosteroids showed greater improvement in language and social skills than those who did not receive steroid treatment. The researchers also found that corticosteroids increased activity in an area of the brain known for auditory processing and the perception of emotions.

 

Why it’s important: While this study was a small retrospective (the researchers used data from previously acquired measurements), it indicates a need for a larger controlled study of corticosteroid treatment for R-ASD with appropriate controls. The most common adverse effects from corticosteroids in this study included weight gain and difficulty in managing the child’s behavior.


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Common DNA Variations May Be Largest Factor in Autism

By Shana R. Spindler, Ph.D. on July 22, 2014

 

News Brief: Common, inherited variations in DNA may be the largest cause of autism, according to a new study published in Nature Genetics. According to the researchers, a little over 50 percent of autism cases are from a combination of widespread genetic variations, which alone do not lead to autism, passed from parents to a child. In contrast, new DNA mutations in the child only account for 2.6 percent of autism cases. For additional details, please visit our recommended external links to the lower right.


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Elevated Womb Hormone Levels Linked to ASD

By Chelsea E. Toledo, M.A. on July 21, 2014
Hormone

 

Background: Autism Spectrum Disorder (ASD) is usually detected in young children experiencing atypical development in the areas of communication, behavior, and social interaction. ASD is four times more common in boys than in girls. Researchers have long suspected that sex-related genetic factors may play a role in this disorder.

 

What’s new: On June 3, 2014, the journal Molecular Psychiatry published a study evaluating a possible link between ASD and the precursors to the male sex hormone testosterone in the amniotic fluid surrounding a developing fetus. The researchers analyzed amniotic fluid from mothers of boys born between 1993 and 1999 in a Danish cohort. In the samples from the 128 boys who later received an ASD diagnosis, the researchers found higher levels of male hormones–as well as a protein known to control hormone activity–than in the samples from the 217 controls.

 

Why it’s important: Using more than 19,000 amniotic fluid samples, scientists have shown a provocative link betweenelevated levels of steroid hormone and exposure in the womb to later development of ASD. However, further research is needed using different population samples to establish this link for any future clinical application.


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Strong Evidence for a Genetic Link to Autism

By Sharmila Banerjee-Basu, Ph.D. on July 10, 2014
CHD8_6

 

Background: The genetic landscape of Autism Spectrum Disorder (ASD) is complex. Diverse types of DNA variation—from rare mutations with large effects to common variations with small effects—are thought to contribute to the development of the disorder. Many autism-associated mutations are known, but how each one contributes to autism is not well established.

 

What’s new: A new study published online in the scientific journal Cell shows convincing evidence that the gene CHD8 is linked to a subtype of autism. Researchers identified eight new CHD8 mutations in 3,730 individuals with developmental delay or ASD. In contrast, the team failed to find similar CHD8 mutations in 8,792 control individuals. Including ASD individuals carrying CHD8 mutations from previous studies, the researchers further examined detailed clinical characteristics in a total of 15 individuals with CHD8 mutations. In addition to ASD, CHD8 mutation carriers have many common features, including significantly increased head size, distinct facial features, gastrointestinal (GI) issues, and sleep problems.

 

Why it’s important: With rapid advances in genomic technologies, a field of study is emerging where sub-types of autism can be recognized based on mutations in specific genes. Importantly, 13 out of 15 individuals with CHD8 mutations in this study had a diagnosis of ASD, indicating a strong link between CHD8 disruption and ASD onset. One can hope that genetic testing may aid in the diagnosis and treatment decision making in autism in the near future.


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Pesticide Exposure Linked to Increased Risk of Autism

By Shana R. Spindler, Ph.D. on June 26, 2014

 

News Brief: Exposure to certain types of agricultural pesticides during or slightly before pregnancy may increase a woman’s risk of having a child with autism, according to a study published this month by University of California researchers.  The team of scientists followed 970 participants as part of the Childhood Autism Risks from Genetics and Environment (CHARGE) Study. The researchers compared commercial pesticide application data with the addresses of study participants and found that those living near the application of organophosphates, a type of pesticide that affects how neurons function, were 60 percent more likely to have a child diagnosed with autism. Study participants living near the use of pyrethoid insecticides, a common type of insecticide that also affects insect nerve cells, showed increased risk for both autism and developmental delay.

 

It is important to recognize that this study shows correlation, not causation. The increased risk of autism in children whose mothers reside near pesticide application may or may not be due to the pesticides themselves, but other factors that are common in families who live near agricultural sites. Certainly, the study supports a closer examination of pesticide exposure and the ballooning rates of autism diagnosis.


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Link Between Oxytocin And Serotonin May Inform Therapy

By Wayne Pereanu, PhD on June 25, 2014
oxytocin serotonin link_3

 

Background: Previous work has shown that some individuals with Autism Spectrum Disorder (ASD) have altered levels of oxytocin and serotonin, chemical messengers in the brain that regulate human emotion and behavior. Recent work in animal models has suggested that oxytocin influences the amount of serotonin produced. While this work in animals is suggestive, there have been no comparable studies in humans.

 

What's New: In the June 2014 issue of the Proceedings of the National Academy of Sciences, researchers report that oxytocin regulates the level of serotonin in the brains of neurotypical individuals. The researchers administered oxytocin through the nose in half of the participants (the other half got a placebo). The group then injected study participants with a tracer compound that allows researchers to infer levels of serotonin in the participants’ brains using PET, a type of specialized brain scan. The team found that oxytocin application induced a decrease in the amount of serotonin in four brain areas that are thought to be important for emotion-based behavior.

 

Why it's important: Drugs that alter levels of either oxytocin or serotonin are currently used to treat various ASD-associated symptoms. This study is the first to show that oxytocin levels can decrease the amount of serotonin in human brains. While this supports previous animal studies, it is an important and requisite step to show this in humans. Their findings suggest that treatment of oxytocin and serotonin levels should be coordinated.


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News Brief: Lifetime Financial Cost of Autism in Millions

By Shana R. Spindler, Ph.D. on June 10, 2014

 

The lifetime cost of supporting someone with Autism Spectrum Disorder (ASD) ranges from 1.4 to over 2 million dollars, according to a new study by United States and United Kingdom researchers. The team reviewed online research literature using keywords associated with autism and financial costs. Special education programs and parental productivity loss contributed the most to cost during childhood, while supported living accommodations and individual productivity loss contributed to high costs during adulthood. The study highlights the critical need for cost-effective interventions and policies that take into account the financial impact of ASD on families.


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Children with ASD Have Greater Visual Focus

By Chelsea E. Toledo, M.A. on June 6, 2014
visual focus

 

Background: Autism Spectrum Disorder (ASD) is characterized by atypical communication, social skills, and behaviors. While much research has focused on deficits in speech and social learning, few studies have focused on areas where children with ASD outperform their peers—namely, in the performance of many visual tasks requiring sustained attention.

 

What’s New: On March 7, 2014, the journal Scientific Reports published a study comparing the visual capabilities of autistic children and their typically developing peers. The researchers—who had previously shown that toddlers with ASD scored better on visual search tasks—measured pupil dilation in 34 children between the ages of one and three years as they viewed pictures and animations containing a distinct target. For example, the children were encouraged to locate a red apple in an image that also contained blue apples and other red shapes. Pupil dilation in the 17 children with ASD indicated that, while they searched similarly to their peers, their focus was much more intense.

 

Why it’s important: For the first time, pupillometry, a sensitive measure of task-based pupil responses, is used to evaluate superior visual performance in children with ASD compared to typically developing controls.The differences observed in the two groups indicate different activity levels of the locus coeruleus-norepinephrine (LC-NE) system, part of the brain underlying the regulation of attention. This study lends support to the idea that individuals with ASD could perform better on tasks requiring undistracted focus compared to tasks requiring rapid shifts in attention.


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Researchers Report Promising New Sensory Test For ASD

By Shana R. Spindler, Ph.D. on May 25, 2014
sensory sensitivity


Background: The new edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) includes sensory sensitivity as a core feature of Autism Spectrum Disorder (ASD). Those with ASD may be extra responsive to changes in temperature, loud noises, strong smells and tastes, or even bright colors. Most sensory questionnaires targeted to individuals with autism are parental reports. Few sensory questionnaires exist for self-reporting by adults with ASD.


What’s new: A new questionnaire, called the Sensory Perception Quotient (SPQ), can reliably measure sensory sensitivity in adults with and without ASD, according to a new study published in Molecular Autism. The SPQ contains statements meant to identify a person’s sensitivity to surrounding sensory inputs, such as “I would be able to detect if a strawberry was ripe by smell alone,” or “I can hear electricity humming in the walls.” The test taker then agrees or disagrees with the statement on a scale of 0 (strongly agrees) to 3 (strongly disagrees). After giving the SPQ to 196 adults with ASD and 163 control participants, the researchers verified that adults with ASD are significantly more sensitive than controls to sight, sound, touch, and taste, but not smell.


Why it’s important: Previous sensory tests for adults assessed behavioral response to the environment rather than focusing on how intensely a person senses surrounding stimuli. While additional research is needed to determine if results from the SPQ match laboratory-measured sensitivity, the SPQ is a promising new tool for identify the sensory needs of individuals in the autism community.


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Researchers Explore ASD and GI Symptoms Link

By Chelsea E. Toledo, M.A. on May 8, 2014
GI symptoms

 

Background: For over thirty years, researchers have suspected a link between Autism Spectrum Disorder (ASD) and gastrointestinal (GI) symptoms. The GI symptoms frequently reported in ASD include abdominal pain, constipation, chronic diarrhea, and gastroesophageal reflux disease. Recently, The National Institutes of Health has prioritized research exploring GI symptoms in people with ASD.

 

What’s new: On May 2, 2014, the journal Pediatrics published a meta-analysis of GI symptoms in ASD, examining 15 studies conducted between 1980 and 2012. In all, the analysis included data from 2215 children with ASD, whose GI indicators were compared to those in children without ASD. The researchers found that, when all studies were taken into consideration, children with ASD were much more likely than their typically developing counterparts to experience general GI symptoms—as well as specific symptoms such as diarrhea, constipation, and abdominal pain.

 

Why it’s important: This study is the first thorough evaluation of the evidence suggesting that GI dysfunction is more common in children with ASD. More research is needed to determine why GI symptoms appear more common in people with ASD, as well as their long-term effects.

 


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Soy-Based Infant Formula Doubles Risk of Seizures

By Shana R. Spindler, Ph.D. on April 22, 2014
soy study

 

Background: Nearly 25 percent of infant formulas use soy protein, and many families rely on this non-dairy alternative during an infant’s first years of life. Some are concerned, however, that a component in soy called phytoestrogens may have an adverse impact on infants’ health by mimicking hormones in the body. Given the widespread use of soy-based formula, relatively few studies have addressed the effect of phytoestrogens on early childhood development.

 

What’s new: In 2013, Dr. Cara J. Westmark of the University of Wisconsin, Madison, reported that mice with neurological disease had more seizures while eating a soy-based diet. Now, she has expanded her studies to a human population. In the March 2014 issue of the online journal Plos One, Dr. Westmark reports that children with Autism Spectrum Disorder (ASD) are 2.6 times more likely to have febrile seizures—those associated with a high fever—and 2.1 times more likely to have epilepsy when given a soy-based infant formula. Even though the study was large, including 1,949 children, caution should be taken before making firm conclusions. The formula and seizure data were based on parental recall, and the study did not take into account the reasons for using soy formula nor the length of time on it.

 

Why it’s important: This study highlights the need to further investigate an association between phytoestrogen exposure early in life and an increased risk of seizures in the ASD population. The ability to decrease seizure risk through diet modification alone would be an important finding for those with ASD.

 


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Are Females Protected Against Autism by Their DNA?

By Eric Larsen, Ph.D. on April 9, 2014
female protective model2

 

Background:  One of the hallmarks of Autism Spectrum Disorder (ASD) is its increased prevalence in males, with an estimated male-to-female ratio of four-to-one. Scientists hypothesize that this gender bias may be the result of the “female protective model.” According to this model, a greater extent of genetic damage is required to overcome an inherent protective mechanism in females. Subsequently, ASD is found more often in males, who require less genetic damage to trigger ASD onset.

 

What’s new:  A recent report in the American Journal of Human Genetics analyzes the genetic variation present in male and female individuals with ASD. The authors report that females with ASD possess a greater number of damaging genetic variants compared to males on the spectrum. Moreover, damaging genetic variations are inherited more often from mothers, rather than fathers.  Given that males and females have a different set of sex chromosomes (females have two X chromosomes, and males have an X an Y chromosome), the authors questioned if genetic changes to the X chromosome might put males at higher risk for ASD. They concluded, however, that genetic variation in the X chromosome made very little contribution to ASD.

 

Why it’s important:  This study strengthens the case for a “female protective model” in ASD. Future research will likely seek to understand the underlying basis for this protective effect in females. Furthermore, the findings of this study may have potential implications in the interpretation of genetic screening studies in ASD cases.


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CDC Reports ASD Rate Now 1 in 68

By Shana R. Spindler, Ph.D. on March 28, 2014
1 in 68

 

Background: Every few years, the United States Centers for Disease Control and Prevention (CDC) monitors the rate of Autism Spectrum Disorder (ASD) across the country. Participants in the CDC-funded Autism and Developmental Disabilities Monitoring (ADDM) Network collect data on 8-year-old children from a sampling of United States communities. In 2007, they published their first report, which showed that about 1 in 150 children had ASD. Since then, the rate has made a steady climb. In 2009, the number rose to 1 in 110. This was followed by 1 in 88 with ASD in the 2012 report.

 

What’s New: The CDC now reports that approximately 1 in 68 children in the United States have some form of ASD. The rate of ASD varies by community, with rates as low as 1 in 175 children in Alabama, contrasted to 1 in 45 in New Jersey. Of note, nearly half of the children with ASD had average or above average intellectual ability (IQ greater than 85), as compared to only 32 percent in 2002.

 

Why it’s important: Population-based studies are an important component of estimating ASD rates. It’s difficult to pinpoint why ASD rates are steadily increasing in the United States. Several factors may be at work, such as better detection methods, increased autism awareness, or environmental influences.


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Disorder-Specific Screening Catches More ASD Cases

By Chelsea E. Toledo, M.A. on March 20, 2014
screening tools

 

Background: The American Academy of Pediatrics recommends that physicians screen all children for autism spectrum disorder (ASD) beginning at 18 months of age (http://www.cdc.gov/ncbddd/autism/hcp-recommendations.html). However, while most pediatricians routinely administer tests for a broad spectrum of developmental disorders, very few report that they screen specifically for ASD.

 

What’s New: The February 2014 issue of the journal Autism presents a study (originally published online December 21, 2012), comparing the ability of two types of screening tools to detect ASD in young children. The researchers evaluated 52 children between 18 and 24 months of age, using the Parents Evaluation of Developmental Status (PEDS) and Modified Checklist for Autism in Toddlers (MCHAT), as well as the updated M-CHAT with follow-up interview (M-CHAT+FUI). All participants then underwent diagnostic evaluation, resulting in 30 ASD diagnoses. While the broad PEDS screening caught 17 of those cases, the M-CHAT and M-CHAT+FUI detected 28 and 27, respectively.

 

Why it’s important: From the results, the researchers concluded that a combination of broad and disorder-specific screenings provide optimum detection of ASD cases, allowing for early intervention for those children ultimately diagnosed with ASD. However, with the release of the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition in May 2013, the diagnostic criteria for ASD shifted. Future studies will need to address how the new requirements for ASD affect the success of screening tools.


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Shared Genetics: ASD and Schizophrenia

By Eric Larsen, Ph.D. on March 6, 2014
schizophrenia_2

 

Background:  New high-throughput sequencing technologies are providing unprecedented view of the human genome. Exome sequencing—a method targeting the protein-coding part of the genome—is increasingly used to unravel genetic underpinnings of common, complex disorders such as autism and schizophrenia.

 

What’s new:  In the February 13, 2014, issue of Nature, two studies reported mutations identified in exomes of large cohorts of individuals with schizophrenia and a control population. The first study analyzed rare, disruptive mutations in the protein-coding regions of approximately 2,500 genes previously implicated in schizophrenia. The team evaluated DNA of 2,536 schizophrenia cases and 2,543 healthy individuals. The second study analyzed the exomes of 600 schizophrenia trios (affected individuals along with their parents). Both studies found mutations distributed across many genes; many of these genes share function at the neuronal synapse—where two neurons communicate.  Of particular importance, the authors demonstrated that the schizophrenia-associated genes identified in their studies overlapped with autism-associated genes.

 

Why it’s important:  These findings illustrate that many rare mutations contribute to schizophrenia.  Furthermore, genes enriched in a number of critical cellular pathways active at the neuronal synapse are preferentially targeted by rare disruptive mutations in schizophrenia. A shared genetic architecture between schizophrenia and other neurodevelopmental disorders is becoming evident.


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