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.

Brain Organization Ages Differently in Autism

By Chelsea E. Toledo, M.A. on November 24, 2015
brain hubs


Background: The human brain is comprised of an intricate network of interconnected regions. Of the hundreds of regions in the human brain, there exists highly connected central regions--or hubs--that link sparsely populated peripheral regions of the brain. Known as the “rich club,” these areas are thought to play key role in integrating information across the brain. Research has suggested that their connectivity may be different in people with autism spectrum disorder (ASD).


What’s New: On November 5, 2015, the journal Scientific Reports explored how organization of the rich club hubs differed in people with ASD versus those with typical development as they aged. The researchers compared brain connectivity data of children between the ages of 9 and 13 to that of a group of adolescents between the ages of 13 and 18. The results of their analysis indicated that organization of rich club hubs in the brain increased as the 36 typically developing children and adolescents aged, but that the same progress wasn’t observed in the 45 children and adolescents with ASD.


Why it’s important: This study adds to the findings suggesting that rich club organization underlies cognition, and that dysfunction in that organization could play a role in certain neurodevelopmental disorders. Future studies could illuminate the precise role of rich club organization and pinpoint how puberty affects its development.

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Neural Basis of Noise Overload in ASD Explained

By Shana R. Spindler, PhD on November 17, 2015
2015_11_sound adaptation


Background: About 90 percent of people with Autism Spectrum Disorder (ASD) experience some form of sensory-related symptoms, such as over or under sensitivity to sights, sounds, and even tastes (reviewed in Geschwind, 2009). Researchers have hypothesized that an abnormal adaptation to sensory stimuli may underlie the social and communication difficulties seen in ASD.


What’s new: On November 5, 2015, Scientific Reports published a study examining loudness adaptation in 20 adults with ASD and 20 neurotypical individuals. The researchers found that adults with ASD were slower and less able to adapt to a continuous, low-level sound than neurotypical adults.


In the study, the participants listened to a soft, constant sound for several minutes and recorded the perceived volume of the sound at specific time intervals. While the neurotypical individuals said the sound decreased by about 50 percent in volume over time—even though the volume of the sound was unchanged—adults with ASD perceived a mere 20 percent reduction. In contrast, adaptation to loud sounds with intermittent disruptions was similar between neurotypical adults and those with ASD.


Why it’s important: The adaptation to constant, quiet sounds is thought to involve a different part of the brain than adaptation to loud, interrupted sounds—think of the hum of a refrigerator versus a fire alarm. Therefore, this is the first study to show that noise overload in ASD may stem from a neural inability to adapt to certain sound types. Interestingly, for individuals with ASD who reported using coping strategies, their adaptive responses were closer to neurotypical individuals.

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How People with ASD See the World Differently

By Chelsea E. Toledo, M.A. on November 10, 2015
ASD Gaze_3


Background: Autism spectrum disorder (ASD) affects three major and inter-related areas: communication, social interaction, and behavior. Research has shown that people with the disorder read faces and other social cues differently than their typically developing peers, which could contribute to the observed behavioral symptoms in ASD.


What’s New: On November 4, 2015, the journal Neuron published a study exploring how general gaze – not just at faces – may differ in individuals with ASD. The researchers showed 700 naturalistic images capturing common daily scenarios to 20 people with ASD and average IQ. Using an eye-tracking device to follow their gaze, they found that, when compared to 19 peers with typical development, the ASD group spent more time focused on the center of an image, even if there was no object in the image’s center. They also found that the ASD group took longer to focus on faces in the images, but were quicker than their typically developing peers to focus on mechanical objects.


Why it’s important: This study suggests that differences in gaze observed in people with ASD is not limited to reading faces, but represents a larger perceptive difference. Larger studies are needed to further define these differences in atypical visual processing in ASD. The eye tracking methodology holds much promise as a non-behavioral early ASD diagnostic marker.

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Four Key Trends Found for ASD Traits and Recurrence

By Shana R. Spindler, Ph.D. on November 5, 2015


Background: Several studies suggest that in families containing one or more individuals with Autism Spectrum Disorder (ASD), non-diagnosed members have increased presence of ASD-related traits. However, little is known about the prevalence or nature of these traits among the siblings in families where multiple members have ASD.


What’s new: On October 27, 2015, the journal Molecular Autism published a study exploring autism symptom pattern and recurrence in families with children on the spectrum. The researchers compared data for over 5500 siblings from the Autism Interactive Network. By examining single versus multiple incidence of ASD in a family, as well as the affected gender, the researchers discovered four key trends:


  1. Non-diagnosed children who have more than one sibling with autism possess an increased and specific pattern of autistic traits—namely resistance to change and restricted interests.
  2. Children with ASD from multiple incidence families are less symptomatic than those from single incidence families.
  3. A history of language delay with atypical speech is a risk factor for both social and restrictive/repetitive behavior symptoms in children not diagnosed with ASD from single or multiple incidence families.
  4. Males who are born into a multiple incidence family including at least one female with ASD are at a greater risk for possessing autistic traits. Likewise, families containing any number of females with ASD have greater recurrence risk for future children.

Why it’s important: This study may useful for the genetic counseling of families with ASD who are considering having another child, or for parents who are worried about their children’s risk of having a child with ASD. The study supports the idea that females require a greater risk factor burden before entering into an ASD diagnosis, making it more likely that males in the same family will have more severe autistic traits. It’s important to note, though, that currently there is no way to predict if anyone will or will not have a child with ASD or ASD-related traits.

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Study Suggests Mobile App Helps Social Interaction

By Chelsea E. Toledo, M.A. on October 29, 2015
social skills apps_2


Background: Advances in mobile computing, such as iPad, hold promise as assistive or adaptive tools for individuals with autism spectrum disorder (ASD). Numerous ASD-related apps are commercially available. However, very few studies have rigorously tested their utility for improving social skills in people with the disorder.


What’s new: An upcoming issue of Association of Computing Machinery Transactions will include a study exploring the potential of a mobile app to improve social interaction in children with ASD. The researchers grouped eight children with ASD into four pairs, and alternated activities for each pair over a period of four weeks. The children had blocks to play with on weeks one and three and a two-player iPad game called Zody to play with on weeks two and four. Interviews conducted at the end of the four-week period suggested that the iPad game – which required players to take on collaborative roles – helped improve social interaction skills in the participants.


Why it’s important: This study may provide a proof of the principle that electronic assistive technologies can help improve social interactions in children with ASD. Future studies with larger participant groups could demonstrate this concept further and refine the use of specific assistive technologies.

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UK Study Finds Predictors for Antipsychotic Use in ASD

By Shana R. Spindler, PhD on October 22, 2015


Background: About one tenth of children with autism spectrum disorder (ASD) in Europe receive antipsychotic medication. In the United States, that fraction climbs to one third. To date, two drugs—risperidone and aripiprazole—are are approved by the FDA to treat irritability in children with ASD, but little is known about antipsychotic use for other co-occurring conditions.


What’s new: On October 15, 2015, the journal European Child & Adolescent Psychiatry published a study detailing antipsychotic use in children with ASD. United Kingdom (UK) researchers examined medical records for 3,482 UK children diagnosed with ASD between 2008 and 2013. They found that children with ASD in the UK who were hyperkinetic, psychotic, depressive, obsessive compulsive, or who had tic disorders were more likely to take antipsychotic medications. Antipsychotic prescription also followed higher levels of aggression, self-injurious behaviors, poor general functioning, and increased parental concern for the child’s symptoms.


Why it’s important: To date, this is the largest study to correlate antipsychotic use with ASD and co-occurring conditions. An overarching goal with studies like these is to give clinicians the necessary tools to predict who might benefit most from available therapy options. Additionally, the results of this study may inform clinical trial design, as clinical trials frequently omit children with any comorbid conditions.

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Repetition May Impair Learning in Autism, Study Finds

By Chelsea E. Toledo, M.A. on October 15, 2015
2015_10_repetitive learning


Background: Cognitive flexibility refers to the ability to shift one’s thinking in response to a change in stimuli. Studies have shown that people with autism spectrum disorder (ASD) often struggle with cognitive flexibility. For example, after successfully completing a drill of identifying an object in a picture, individuals with ASD don’t always transfer that knowledge when asked to identify the same object in another picture.


What’s New: On October, 2015, the journal Nature Neuroscience published a study exploring the roots of cognitive inflexibility as it relates to ASD. The researchers administered a test to 23 high-functioning adults with ASD and 19 typically developing controls, asking them to locate a set of diagonal bars among horizontal bars on a screen multiple times over a period of eight days, with the location of the target switching on the fifth day. The ASD group performed similarly to the control group over the first four days, but not on days five through eight. However, a second group of participants and controls underwent a similar test – only with “dummy” screens shown in between tasks – and the ASD group did not experience the same dip in performance when the target switched locations.


Why it’s important: This study suggests that, while repetition may be an effective way to teach a single concept, repeated stimuli may in fact derail longer-term learning for people with ASD. Future studies could lay the groundwork for less repetitive learning models to aid in the education of people with ASD.


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Luteolin May Improve Behavior in ASD Subgroup

By Shana R. Spindler, Ph.D. on October 8, 2015


Background: Individualized management is an important goal for those with Autism Spectrum Disorder (ASD). While we don’t yet have standardized ASD subgroups, several lines of evidence suggest that inflammatory molecules may serve to distinguish some ASD populations.


What’s new: On September 29, 2015, the journal Translational Psychiatry published a study on the effect of luteolin supplementation on children with ASD. The antioxidant luteolin is a powerful anti-inflammatory agent naturally found in some foods, including celery, broccoli, and navel oranges. The researchers found that a subgroup of children with ASD had high blood levels of inflammatory molecules—known as IL-6 and TNF—which decreased significantly after luteolin treatment. The children with the greatest decrease in IL-6 and TNF showed the most improvement in communication, daily living skills, and social behaviors.


Why it’s important: This study combines two important topics in autism research: subgroup identification and individualized treatment. An inflammation-based biomarker in individuals with ASD could help predict prognosis following anti-inflammatory treatments.   The results of this study support the need for a larger, double blind, randomized, placebo-controlled trial.

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Newly Found Biomarker May Aid in Autism Diagnosis

By Chelsea E. Toledo, M.A. on October 1, 2015


Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social, communicative, and behavioral differences. Research has shown that certain activity within the brain – where calcium signaling plays a significant role in communication between neurons – is dysfunctional in ASD, impacting learning and memory.


What’s New: On September 22, 2015, the journal Translational Psychiatry published a study exploring a defect in calcium release as a possible biomarker for ASD. The researchers examined skin cells from male Caucasian donors with different genetic variations of the disorder, as well as from typically developing controls. They discovered a defect in calcium signaling within cellular membranes in the skin samples taken from donors with ASD.


Why it’s important: The cellular location of the defect – in a part of the cell called the endoplasmic reticulum – has been linked to cognitive, digestive, and immune function. While no widely accepted biomarkers currently exist for ASD, further study of the calcium signaling defect could lead to early diagnostics and targeted treatments for the disorder.

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Combined Genetic Tests May Improve ASD Management

By Chelsea E. Toledo, M.A. on September 24, 2015
2015_09_combined genetic testing


Background: Autism spectrum disorder (ASD) is thought to be caused by a combination of genetic and environmental factors. To date, variations in hundreds of genes have been associated with ASD, and these explain only a small fraction of individuals with autism. Although no genetic tests are available for the diagnosis of ASD, genetic testing could offer guidance for medical management. Some tests look for big changes in DNA, while others check for small variations.


What’s New: On September 1, 2015, the Journal of the American Medical Association published a study exploring the utility of combining two genetic tests. The researchers administered chromosomal microarray analysis (CMA) – which identifies large genetic abnormalities, such chunks of missing DNA – to 258 unrelated children with an ASD diagnosis. They then applied whole-exome sequencing (WES) – which helps to identify variations in the protein encoding portions of DNA – to 95 of those children, who also had physical abnormalities sometimes associated with the disorder. They found that, individually, those tests could reveal information about a child’s susceptibility to ASD about eight percent of the time. However, when applied together in children with physical abnormalities, CMA and WES were able to provide an informative diagnosis 38 percent of the time.


Why it’s important: While still not precise enough to provide an initial ASD diagnosis, genetic tests can be useful in informing ASD medical management. Autism-linked genetic variations might predispose a child to other medical conditions, and when combined, CMA and WES could help care providers identify what comorbid conditions to prepare for.

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Repetitive Behavior Less Severe in Girls with ASD

By Shana R. Spindler, PhD on September 18, 2015
2015_09_gender symptoms_3


Background: The core symptoms of Autism Spectrum Disorder (ASD) include social differences, communication difficulties, and restricted or repetitive behaviors. While ASD is four times more common in boys than in girls, the cause of this gender gap is unclear. Research studies are being conducted to investigate gender differences in ASD.


What’s new: In a large study of ASD core symptom severity in boys and girls, Stanford University School of Medicine researchers report that girls with ASD have fewer repetitive behaviors than boys on the spectrum. The study, published in the journal Molecular Autism, looked at ASD symptom severity using two well-established datasets of children with ASD. In both datasets, the researchers found that girls scored better than boys on measures of restrictive and repetitive behaviors, with no difference between social and communication function reported.


Brain imaging data for 25 boys and 25 girls with ASD from one of the datasets showed differences in grey matter volume in motor-related and social brain areas. The researchers did not find the same gender differences in grey matter volume between neurotypical boys and girls.


Why it’s important: Examination of ASD core symptom severity in boys and girls may offer clues about ASD risk factors in each gender—such as brain areas sensitive to environmental or genetic stressors. The current study included children with high-functioning ASD only. Additional studies that test these findings in children from a wider range of the spectrum are needed.

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Face-Reading Study Supports “Extreme Male” Theory

By Chelsea E. Toledo, M.A. on September 9, 2015
eye test study


Background: Autism spectrum disorder (ASD) is four times more common in boys than in girls. That trend has led some researchers to subscribe to the “extreme male theory” – that the brain of a person with the disorder is essentially an extreme version of male brain in terms of its structure and function.


What’s new: On August 27, 2015, the journal PLoS ONE published a study exploring sex differences when it comes to interpreting facial expressions. The researchers administered an existing online test – called “Reading the Mind in the Eyes” – to a total of 715 adults at an average age of 39. The scores of 152 men and 168 women with typical development followed the previously established trend: women scored better at the task of choosing the correct emotion to match a given facial expression. However, the scores of the 178 men and 217 women with ASD were nearly identical – and much lower across the board than those of their typically developing peers.


Why it’s important: While the “Reading the Mind in the Eyes” test has been used in hundreds of studies since its development in 1997, this is the largest study to administer the test to people with ASD. Future studies could reveal more about the underlying causes of ASD by delving deeper into the sex-common and sex-specific features of ASD.

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Regressive ASD Linked to Temporal Lobe Activity

By Chelsea E. Toledo, M.A. on September 1, 2015
temporal activity_2


Background: The temporal lobe, one of the four major parts of the brain’s cerebral cortex, aids in processing sound, categorizing objects, and consolidating memories. It also plays a role in visual processing, emotions, and language. Researchers first began to suspect a relationship between temporal lobe abnormalities and autism spectrum disorder (ASD) in 1975. (see second Pubmed link below)


What’s New: On July 30, 2015, the journal European Child & Adolescent Psychiatry published a study investigating if irregular electrical brain activity – an indicator of epilepsy – could predict any specific feature of ASD. The researchers analyzed the results of brain scans from 220 children and young adults, 71 with ASD and 146 with other developmental disorders. After performing brain measurements on a subgroup of participants, they found a correlation between abnormal electrical brain activity, relatively large head size, and loss of previously acquired developmental skills, known as regression. The relationship between regression and abnormal electrical brain activity was the strongest when that activity took place in the temporal lobe.


Why it’s important: The results of this study support the possibility that irregular electrical activity in distinct brain areas may predict or help define ASD subgroups.

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Researchers Create Rapid ASD Screening for Toddlers

By Chelsea E. Toledo, M.A. on August 25, 2015
rapid test_2


Background: Autism Spectrum Disorder (ASD) is typically diagnosed via behavioral observation of a child. The American Academy of Pediatrics currently recommends that children undergo a “level one” screening at their 18- and 24-month well visits. If that screening, which involves questions about a child’s communicative and social behaviors, raises a concern about ASD, the child is usually referred to a specialist who can conduct more formal assessments.


What’s New: On August 15, 2015, the Journal of Pediatrics published a study detailing a new screening tool for toddlers. The researchers administered the ten-minute, play-based test, called Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) to a total of 61 toddlers, including 42 with developmental concerns established by a level one screening. RITA-T was 88 percent accurate in predicting the 23 ASD diagnoses ultimately made through formal diagnostic tests.


Why it’s important: RITA-T has the potential to become a useful “level two” screening tool for clinicians, helping to weed out the false positives generated by level one screenings and allowing for earlier diagnosis and intervention.

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Digestive Enzyme Supplement May Improve ASD Symptoms

By Shana R. Spindler, Ph.D. on August 18, 2015
2015_08_gastric enzyme


Background: Gastrointestinal ailment is frequently observed in individuals with Autism Spectrum Disorder (ASD). Several studies have shown that individuals with ASD may lack proper digestive enzymes, such as lactase—an enzyme that helps digest the lactose in dairy products. One theory is that undigested nutrients may contribute to some of the core symptoms of autism and any co-occurring gastrointestinal distress.


What’s new: On August 31, 2015, the journal Clinical Psychopharmacology and Neuroscience published a randomized, double-blind, placebo-controlled study investigating the benefits of digestion enzyme supplementation for children with ASD. The researchers gave 92 children with ASD between 3 to 9 years of age either a combo of gastric enzymes (papain and pepsin) or a sugar syrup placebo, to be taken at each meal. After three months, the group receiving the enzymes showed significant improvement in emotional response, general behavior (mainly improved restrictive, repetitive, and stereotypic behavior), and gastrointestinal symptoms.


Why it’s important: This study supports the need for a larger, randomized, double-blind study of digestive enzymes for children with ASD. According to the authors, digestive enzymes are inexpensive, readily available, and safe for use.

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Level of Hormone Predicts Theory of Mind Ability in ASD

By Shana R. Spindler, Ph.D. on August 13, 2015


Background: Difficulty with social functions is a defining characteristic of Autism Spectrum Disorder (ASD). Hormones in the brain, such as oxytocin and arginine vasopressin, play an important role in regulating social behaviors in humans and other mammals. While several studies have focused on the potential role for oxytocin in the diagnosis and treatment of ASD, few investigations have centered on arginine vasopressin.


What’s new: On July 22, 2015, the online journal PLOS ONE published a study examining the relationship between blood levels of arginine vasopressin (AVP) and social abilities in those with ASD, their siblings, and neurotypical controls. The researchers first confirmed that blood levels of AVP predicted brain levels of the hormone. Next, they found that ASD individuals with lower blood levels of AVP have decreased Theory of Mind—the ability to interpret another’s intensions and emotions. This correlation is specific only to Theory of Mind ability, as AVP blood levels did not predict other social function scores.


Why it’s important: ASD is a heterogeneous condition—individuals along the spectrum have varying degrees and combinations of symptoms. Consequently, there is individual variability in Theory of Mind. Having a biomarker for this nearly universal feature of ASD will be important for diagnosis and treatment selection. This study suggests that the blood level of arginine vasopressin could be a biomarker for theory of mind ability in individuals with autism.

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Sensorimotor Differences in ASD Appear in Infancy

By Chelsea E. Toledo, M.A. on August 4, 2015


Background: In the United States, one in 68 children is estimated to have Autism Spectrum Disorder (ASD). Children who have an older sibling with the disorder face a much higher risk, which studies have estimated to be about one in 10. Researchers can study these infants and toddlers at high risk of ASD to learn about the early onset characteristics of autism.


What’s New: On July 16, 2015, The Journal of Neurodevelopmental Disorders published a study exploring differences in behavioral, cognitive, and adaptive development among infants at high and low risk of developing ASD. The researchers performed established screenings to assess the behavior of 308 children—210 of whom were high-risk and 98 of whom were low risk for ASD—at 6, 12 and 24 months of age. They classified 49 of the high-risk children as having ASD at 24 months, with the children who most closely matched the profile demonstrating sensorimotor deficits at 6 months of age. In contrast, the less severely affected children displayed their first differences in the form of socio-communication skills by two years of age.


Why it’s important: Previous studies on infants have revealed differences first appearing in social and communicative abilities. This finding—that children most severely affected by ASD have early sensorimotor difficulties—could reveal some of the physiological basis for the disorder, leading to earlier diagnosis and intervention.

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Diagnosis Swap May Increase ASD Prevalence

By Shana R. Spindler, Ph.D. on July 28, 2015
Diagnosis swap


Background: Autism Spectrum Disorder (ASD) is characterized by impaired social and communication skills and the presence of restrictive or repetitive behaviors. The United States Centers for Disease Control (CDC) estimates the current prevalence of ASD at 1 in 68 children. This is a sharp increase from the CDC estimate of 1 in 150 children with ASD in 2002.


What’s new: On July 22, 2015, the American Journal of Medical Genetics published a study comparing the prevalence of ASD with other comorbid conditions, such as intellectual disability (ID), among 6.2 million children enrolled in special education programs in the United States. The researchers report that a decrease in ID diagnosis accounts for about 64 percent of the increase in autism prevalence between 2002 and 2010. Age of the child appears to influence the re-categorization of diagnosis, with older children seeing a greater shift toward autism diagnosis than younger children.


Why it’s important: These data suggest that healthcare professionals are using the diagnosis of ASD in place of comorbid classifications more often, and this accounts, in part, for the increase in ASD rates over the last decade.

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Study Questions Gluten- and Casein-Free Diets for ASD

By Chelsea E. Toledo, M.A. on July 23, 2015



Background: Autism Spectrum Disorder (ASD) has been linked to gastrointestinal issues, and some families follow specific dietary guidelines to allay both digestive and behavioral symptoms. In particular, these diets have excluded gluten and casein—proteins found in bread and milk, respectively. While some healthcare professionals recommend a gluten-free, casein-free diet—commonly known as a GFCF diet—studies that confirm its efficacy are lacking.


What’s New: On July 4, 2015, the journal Acta Paediatrica published a study exploring the effects of gluten and casein on the gastrointestinal and behavioral symptoms of children with ASD as well as the urine concentration of a protein previously associated with behavioral issues in autistic children. The researchers performed a double-blind, randomized clinical study on children between the ages of 4 and 7 with severe behavioral issues related to ASD, all of whom were already on a gluten- and casein-free diet. After giving a gluten-casein supplement to 38 children and a rice meal placebo to 36 children for one week, they found no significant difference between the two groups in behavior, urinary protein expression, and level of gastrointestinal disruption.


Why it’s important: While previous studies have evaluated the effects of eliminating gluten and casein from the diets of children with ASD, this is the first study to explore the results of adding the proteins back in. Future studies could evaluate the long-term effects of gluten and casein on behavior and gastrointestinal symptoms, given the limited exposure time to these proteins in this study.

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Autism Could be Indicated by Sniffing Patterns

By Chelsea E. Toledo, M.A. on July 14, 2015
sniff test


Background: Sensory-motor coordination involves integration between the parts of the brain that receive and interpret stimuli and those that facilitate action in response. For example, upon touching a hot surface, people immediately remove their hands. Studies have suggested that sensory-motor coordination is atypical in people with autism spectrum disorder (ASD).


What’s New: On July 2, 2015, the journal Current Biology published a study exploring the response to odors in children with and without ASD. The researchers used a device to measure the time to sniff and duration of sniff for 36 children between the ages of 4 and 11 who were presented with pleasant and foul odors. They found that the 18 typically developing children followed the same sniffing patterns seen in adults; they would sniff pleasant odors for longer periods of time, but respond with brief sniffs when presented with foul odors. The 18 children with ASD, however, sniffed both pleasant and foul odors for the same amount of time. Using the device, the researchers were able to predict 81 percent of ASD cases.


Why it’s important: This study suggests that the olfactory response is different in children with ASD, with more pronounced differences in children with higher degrees of social impairment. Future research could determine whether the researchers’ method, which requires no verbal response, could be used to help diagnose the disorder in very young children to allow for early intervention.

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Study Probes Memory and Language Patterns in ASD

By Chelsea E. Toledo, M.A. on July 7, 2015
language delay


Background: While differences in communication comprise a core feature of autism spectrum disorder (ASD), those with the disorder experience a wide range of language abilities and impairments. Studies have compared language delay in children with ASD to language delay in those without the disorder—demonstrating an overlap in the difficulties they encounter producing sounds, words, and language.


What’s New: On June 14, 2015, the Journal of Neurodevelopmental Disorders published a study assessing language impairment in children with and without ASD. The researchers administered a battery of language tests to 60 children between 5 and 8 years of age. They found that children who experienced language impairments (both with and without ASD) had more trouble remembering words that they had heard than children with ASD and no language impairment. However, the ability to repeat non-word sounds differed among children with language delay—those with ASD outperformed those without ASD in repeating short non-word sounds.


Why it’s important: This study suggests that the neurodevelopmental factors leading to language delay in children with ASD are different from those leading to impairments in children without the disorder. Long-term studies of both populations could shed light on how patterns in their language and memory compare as they mature.

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Size of Brain Area May Predict ASD in Infants

By Chelsea E. Toledo, M.A. on July 1, 2015


Background: “White matter” refers to the parts of the brain that transmit signals between brain regions. The brain’s largest white matter connection, the corpus callosum, is a thick bundle of fibers connecting the brain’s hemispheres and facilitating communication between them. Numerous studies have shown that the corpus callosum is smaller in adults and children with autism spectrum disorder (ASD) than in their typically developing counterparts.


What’s New: On May 3, 2015, the journal Brain published the first study focusing on the corpus callosum in infants at risk of developing ASD. The researchers scanned the brains of 378 children—270 with older siblings diagnosed with ASD—at 6, 12, and then 24 months of age. Fifty-seven of those children fit the ASD profile at 24 months of age. In those children, the corpus callosum was much thicker—especially at the 6- and 12-month time points, with differences diminishing as children approached 2 years of age. The finding held even when the researchers controlled for brain size, which studies have shown is larger in infants with ASD.


Why it’s important: This is the first study to examine how the size of the corpus callosum during infancy relates to ASD diagnosis. Future research could examine the biological mechanisms that lead to changes in relative corpus callosum size from infancy to child- and adulthood in those with autism. Several lines of evidence point to abnormalities in the way neuron growth and insulation is managed in the brain.

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Study Links Autism to Congenital Abnormalities

By Chelsea E. Toledo, M.A. on June 18, 2015


Background: Autism Spectrum Disorder (ASD) is characterized by differences in behavior, communication, and social interaction and has been linked to genetic and environmental risk factors. Studies haves suggested that congenital abnormalities such as cleft lips and palates—which begin to form early in pregnancy—are more common in children with ASD.


What’s New: On June 3, 2015, the Journal of Autism and Developmental Disorders published a study exploring the relationship between various congenital abnormalities and ASD in children with and without intellectual disabilities. The researchers examined the records of 17,695 Finnish children born between 1987 and 2000—4,441 with ASD and 934 with congenital abnormalities. They found that children with ASD were more likely to have congenital abnormalities of the eye, face, and neck, as well as the central nervous and musculoskeletal systems, development of which occurs during the first trimester. They also found that both the children with ASD and those with congenital abnormalities were more likely to have been born prematurely or at a low birth weight.


Why it’s important: This study suggests that—while ASD isn’t typically diagnosed until children are at least two years old—the underlying factors leading to the disorder may appear very early during gestation. Further research could illuminate the precise environmental, genetic, and epigenetic influences leading to ASD in the developing brain.

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Large-Scale Study Strongly Supports ASD, Parental Age Link

By Chelsea E. Toledo, M.A. on June 11, 2015
2015_06_11_age study


Background: In addition to the genes they pass on, parents’ age at the time of a child’s birth appears to influence ASD risk. Studies conducted over the past two decades have suggested that children of older parents have a higher risk of developing ASD.


What’s New: On June 9, 2015, a study in Molecular Psychiatry probed the role of parental age in ASD. The researchers examined health records from nearly six million children across five countries—with more than 30,000 ASD diagnoses. They found that the children born to mothers between the ages of 40 and 49 or to fathers older than 50 were more likely to have an ASD diagnosis than those with parents in their twenties. They also found an increased likelihood of ASD diagnosis in children born to mothers younger than 20 and in children whose parents were more than 10 years apart in age.


Why it’s important: This is the largest-ever multinational study looking at parental age and ASD. While the results appear to support the theory posited by previous studies—that genes inside sperm undergo mutations as men get older, contributing to ASD in the resulting offspring—future research could illuminate the biological roles of maternal age and age gaps between parents in relation to ASD.

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Study Paves Way for Blood Test for Autism

By Chelsea E. Toledo, M.A. on June 2, 2015
2015_06_02_blood test


Background: To date, trained clinicians diagnose Autism Spectrum Disorder (ASD) by structured behavioral observation of a child. The typical age of ASD diagnosis is between the ages of four and five in US children. However, research has shown that interventions performed earlier in life lead to better outcomes in children with the disorder.


What’s New: On April 1, 2015, JAMA Psychiatry published a study testing the effectiveness of genetic biomarkers in the blood to predict whether very young children would receive an ASD diagnosis. The researchers first looked for factors differentiating the blood of 147 male children between the ages of one and four—56 with typical development and 91 who were diagnosed with ASD by their third birthday. They identified a genetic signature related to the body’s immune response that was 83 percent accurate at predicting whether participants had ASD. The researchers were able to replicate their findings in a separate group of 73 children, which included 44 boys with ASD.


Why it’s important: This study provides proof of the principle that immune-related gene expression differs in people with ASD. Future work could lead to a blood test to screen for the disorder in children as young as one year old, allowing for earlier intervention.

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Study Probes Children’s Language Outcomes in Autism

By Chelsea E. Toledo, M.A. on May 26, 2015
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Background: According to the National Institutes of Health, as many as 30 percent of children with Autism Spectrum Disorder (ASD) may never develop functional language abilities. However, little research has explored the factors contributing to those children’s verbal deficits.


What’s New: The January 2015 issue of the Journal of Child Psychology and Psychiatry included a study probing the relationship between language acquisition and the severity of symptoms in children with ASD. The researchers assessed the behavior and social abilities of 70 children between the ages of 1 and 5 with ASD, using established observational screenings upon admission into the study, and then again when the child was five years old. They found that, of the 47 children who could not say more than one word at the time of the first observation, only 36 percent (17 children) could utter phrases by the time of the second observation. Minimal verbal ability was linked to the changes in the severity of the children’s social symptoms, but not to repeated behaviors.


Why it’s important: This study adds to research suggesting that a significant portion of children with ASD remain minimally verbal by age 5. Future research over longer periods of time could reveal the precise relationship between the severity of autism symptoms and language acquisition.

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ASD Linked to Fewer Gestures in Infancy

By Chelsea E. Toledo, M.A. on May 19, 2015


Background: One of the trademark symptoms of Autism Spectrum Disorder (ASD) is impaired communication, which is accompanied by difficulty with social interaction and restrictive, repetitive behaviors. Although ASD is typically not diagnosed until later in childhood, language delay can present itself as early as the first year of life.


What’s New: The January 2015 issue of the Journal of Autism and Developmental Disorders included a study examining the relationship between language production and the gesture use by infants and their caretakers earlier in life. The researchers performed observational screenings on a total of 75 infants—48 who had a sibling with ASD and 27 who did not. During observation, the researchers evaluated maternal and infant gestures at 12 months of age and the children’s subsequent language production at 18 months of age.

The research team found that the infants who later fit the ASD profile produced the fewest gestures, and that the use of gestures by mothers only affected the language production of the infants who did not fit the ASD profile. They also observed that mothers of the infants deemed high-risk for ASD by virtue of having a sibling with the disorder tended to produce more gestures, such as pointing and nodding when interacting with their children.


Why it’s important: This study reinforces other research suggesting a delay in gesture production in infants who would ultimately receive an ASD diagnosis. Future research could illuminate intervention strategies based on interactive gesturing by caretakers.

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Study Links Autistic Traits to Adult Disorders

By Chelsea E. Toledo, M.A. on May 12, 2015
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Background: Autism Spectrum Disorder (ASD) presents itself as differences in communication, social interaction, and behavior. Research has shown that these traits often appear in children with psychiatric conditions such as depression and bipolar disorder. However, fewer studies have evaluated whether adults affected by psychiatric disorders also exhibit autistic-like traits.


What’s New: On April 2, 2015, the online journal PLOS ONE published a study exploring the prevalence of autistic-like traits in adults with psychiatric disorders. The researchers applied a series of established psychological and behavioral screenings to a total of 290 individuals between the ages of 25 and 59—125 with clinical depression, 56 with bipolar disorder, 44 with schizophrenia, and 65 with no psychiatric diagnosis. They found that a significant portion of the individuals with psychiatric disorders—with the exception of depression in remission—exhibited autistic-like traits like restrictive, repetitive behaviors. The prevalence of these ranged from 46 percent in those with ongoing depression to 61 percent in those with schizophrenia—as compared to the 14 percent of individuals with no psychiatric diagnosis who demonstrated autistic-like traits.


Why it’s important: This is the first major study to examine the link between adult psychiatric conditions and the traits observed in ASD. Because those traits were so strongly associated with adult bipolar disorder and schizophrenia, the findings could inform screening and treatment for those patient populations.

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Study Links Brain Differences to Language Delay

By Chelsea E. Toledo, M.A. on May 4, 2015
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Background: Autism Spectrum Disorder (ASD) varies widely in its presentation. While some individuals on the spectrum have no history of language delay, others experience extreme differences in behavior, social skills, and communication compared to peers. Several studies have addressed the brain differences between individuals with ASD and those with typical development, but little research has focused on how brain development might differ for those with varying presentations of the disorder.


What’s new: On March 3, 2015, the journal Autism Research published a study exploring brain differences in adults with ASD to determine whether those who had experienced language delay were neurologically different from those who had not. Every participant had an IQ in the normal range. The researchers found that the 27 individuals who had experienced language delay had thinner layers in a specific brain region than the 37 individuals with typical language development. The thickness of that brain region, commonly associated with cognition, correlated with higher verbal IQ scores.


Why its important: This is the first study to link verbal IQ to differences in specific regions of the brain’s outer layers. This work could help researchers understand the underlying factors leading to the variation in different cases of ASD.

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