Background: Research has shown that infants with an autistic sibling are at an increased risk for developing Autism Spectrum Disorder (ASD). Researchers also know that the behaviors which are atypical in children with ASD--including communication and social interaction--have roots in the behaviors displayed in infancy. Lesser understood is how infants' behaviors evolve as they undergo typical development versus the emergence of ASD.

What’s New: In a report published in the print and online editions of Autism, researchers evaluated how infants at high versus low risk for ASD explored objects. They observed 31 infants--15 defined as "high risk" because they had an autistic sibling--at 6 and 9 months of age as they played with rattles. The researchers concluded that, while none of the high-risk infants went on to receive an ASD diagnosis, they did display significant differences from the low-risk group in time they spent looking at and mouthing the rattles. However, the time high- and low-risk infants spent touching the rattles with their hands was largely the same.

Why it’s important: The way infants handle objects can affect their skills later on; for instance, making sounds while chewing a rattle can help infants practice consonant sounds. Because ASD is associated with atypical language and cognition, a better understanding of the precursor behaviors for those abilities in infants teaches scientists more about how the disorder manifests in toddlers and older children.

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Genetics

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Background: Parents of children with Autism Spectrum Disorder (ASD) have high stress levels and an increased risk for psychological problems like depression and anxiety, likely due to the daily stressors associated with parenting a child with ASD.  However, little is known about stress contributors among parents who have very young children with ASD.

What’s new: A recent study published in the journal Brain and Development studied stress among parents with very young autistic children (18 – 30 months).  Ninety-six parents with children who had ASD, developmental delay, or normal development completed self-report questionnaires that measured parental stress and psychological distress.  Additionally, the parents completed surveys assessing their child’s behavior patterns and daily living skills.

The results showed that mothers of young children with ASD had significantly higher stress than other mothers, but no difference in psychological distress. According to the study, a mother’s stress is more linked to a child’s behavioral problems, rather than daily living skills, at this age group. This association held true for parents raising young children with autism as well as those caring for children with developmental delay.

Why it’s important: Parental stress is significant in mothers of children with ASD, and this research shows that stress is prevalent even when the child is a toddler.  This study suggests that strategies to manage and reduce behavioral problems in young children with ASD may help decrease parental stress.

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Autism Profile

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Background: Autism Spectrum Disorder (ASD) describes a group of symptoms associated with abnormal brain development. Three symptoms—repetitive behaviors, awkward social interactions, and difficulty with verbal and nonverbal communication—dominate ASD. Recent research suggests that ASD is associated with a hyperactive immune system. The studies point to the presence of autoantibodies and elevated levels of pro-inflammatory molecules in blood samples from autism patients.

What’s new: Coronado Biosciences, Inc., a biopharmaceutical company in Massachusetts, announced the initiation of a clinical trial to treat adults with ASD. The clinical trial, approved by the U.S. Food and Drug Administration, is focused on the effect of TSO (Trichuris suis ova) on ASD symptoms. TSO is an egg of the porcine whipworm that naturally regulates pro-inflammatory molecules. Patients will receive either TSO or a placebo during the 28-week trial (12-weeks treatment, 4-weeks wash-out period, and 12-weeks treatment). The egg is harmless to the patient who passes it several weeks after dosing.

Why it’s important: This study builds on animal studies that examined the link between inflammation and altered neurodevelopment. It offers a natural therapy to treat the symptoms of ASD in people with autism. The scientists believe TSO will be beneficial in the treatment of repetitive behaviors, irritability, and social cognition in adults with ASD.

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Autism Therapy

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Background: Some scientists and medical professionals believe that changed activity of a mother’s immune system during pregnancy is linked to atypical social skills, communication and repetitive behaviors in her resulting offspring. These traits are characteristic of Autism Spectrum Disorder (ASD), but previous studies have yet to prove a definite association between infection during pregnancy and the development of ASD in humans.

What’s New:  In a report published in the online version of Pediatrics, investigators evaluated the likelihood that infections, fever and antibiotic use during pregnancy were risk factors for ASD in the developing child. Studying the medical records of almost 100,000 Danish children born between 1997 and 2003, the researchers determined how many of the 1000 children diagnosed with ASD had been exposed to the potential risk factors, which are related to immune activity in pregnant mothers. They concluded that—while ASD was more common in children whose mothers reported having influenza, prolonged fever or certain antibiotics in their systems while pregnant—the suspected link between increased immune activity of pregnant mothers and ASD in their resulting children was not strong.

Why it’s important: This exploratory study tested multiple hypotheses at once—whether infections, fever or antibiotics in pregnant women can lead to autism in their developing children. That study technique could be to blame for some of the seemingly positive associations between ASD and increased gestational immunity, so further research testing one risk factor at a time is needed to answer the question definitively.

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Environmental Factors

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Background: Autism Spectrum Disorder (ASD) has been linked to mutations in genes coding for proteins that function at the synapse—the location where neurons transmit electrical and chemical signals. The gene SYNGAP1 encodes one such synaptic protein. The mechanism through which synaptic dysfunction affects neural circuits and behavior is not well understood.

What’s new: Early synapse maturation can lead to irreversible cognitive and behavioral deficits in mice, according to a recent study published in the journal Cell. Researchers used a mouse model lacking the SYNGAP1 gene to investigate the role of SYNGAP1 in synapse development and, by extension, the role of synapse development in cognitive and behavior deficits. The authors reported that synapses associated with small protrusions on the receiving branches of the neuron, known as dendritic spines, mature at a faster rate in the postnatal mouse model lacking SYNGAP1. The acceleration of synapse maturation resulted in increased neural excitability and behavioral abnormalities. The researchers identified a critical developmental window, as elminating SYNGAP1 outside the window minimally impacted synapse function, and reversing the mutation in adulthood had no effect.

Why it’s important: Excitatory/Inhibitory imbalance in the brain is a striking neurophysiological feature of many neurodevelopmental disorders like ASD and Intellectual Disability (ID). This study suggests that mutations in genes that encode synaptic proteins may affect critical windows of cortical development by altering the rate of synapse development, leading to increased neural excitability and cognitive dysfunction. Further studies are needed to identify the effects of synaptic disruptions on neuronal circuit organization in the brain.

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Brain Biology

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Background: Autism Spectrum Disorder (ASD) can be diagnosed in children as young as 18 months old. Research has shown that earlier interventions for ASD, such as the Early Start Denver Model (ESDM), are associated with better outcomes, including improved IQ, language, and adaptive behaviors like recognizing faces.

What’s New: In a report published in the November 2012 issue of the Journal of the American Academy of Child & Adolescent Psychiatry, researchers detail an additional improvement conferred by ESDM: a better response to stimuli by the brain’s prefrontal cortex. The scientists used electroencephalography (EEG)—a test that measures electrical activity along the scalp—on children between 18 and 30 months of age. Of the 48 participants with ASD, half received ESDM intervention, and the other half received referred therapies through child development programs and individual providers. After two years, the cortical activity of the ESDM group approximated that of children without ASD when they were shown images of faces.

Why it’s important: The findings demonstrate that the brains of children with ASD can process social stimuli in a typical manner when the disorder is addressed early in life using the ESDM. Thus, the severity of ASD can possibly be allayed by way of early intervention.

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Autism Therapy What are key parts of the social brain circuit used in social processing?

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Background: Can where you live increase a child’s risk of autism? Previous studies have tried to link spatially distributed environmental factors, like air pollution or agriculture pesticides, to autism risk. However, the spatial distribution of confounding factors, such maternal education level, have made it difficult to narrow environmental factors that could place a child at risk for autism.

What’s new: In a new study published in Environmental Health, researchers examined the geographic distribution of ASD patients in North Carolina. They linked birth records to surveillance data obtained from the Autism and Developmental Disabilities Monitoring (ADDM) Network. The researchers used a generalized additive model (GAM) to estimate ASD prevalence in the area. Using the model, the researchers found that geographic variability of ASD prevalence declined when the model accounted for predictive and diagnostic factors—those factors that increase ASD risk or make a parent more likely to recognize ASD symptoms—such as year of birth, race/ethnicity, level of the mother’s education, smoking habits during pregnancy, plurality, and maternal age. The diminished variability limited the researcher’s ability to identify an environmental factor of concern.

Why it’s important: Unlike previous work, this study used GAM, which better adjusts individual risk factors when modeling ASD prevalence in the area. This study underscores the importance of understanding confounding factors to interpret geographic patterns properly when examining the role of the environment in ASD risk.

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Environmental Factors

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Background:

More males than females are diagnosed with autism, at a rate of at least 4:1.  This significant gender difference, along with previous animal and human studies of sex differences in brain development, has led researches to speculate that children with Autism Spectrum Disorder (ASD) may be exposed to more testosterone—the chief male sex hormone—than unaffected children.

What’s new:

In a study published in the Journal of Neurodevelopmental Disorders on 30 October 2012, researchers measured testosterone in the umbilical cord blood of 707 newborns and then followed the cohort for 20 years to determine if the testosterone level at birth correlated with a future diagnosis of ASD or presence of autistic traits.  The researchers found that testosterone levels were not associated with an ASD diagnosis nor related to the development of autistic-like traits in those subjects without a diagnosis of autism.  However, only five of the 707 newborns developed autism. A follow-up study with greater numbers is important to validate these findings.

Why it’s important:

This research suggests that the level of testosterone at birth does not correlate with the development of autism. Additional studies are needed to determine if testosterone levels during the early stages of pregnancy play a role in ASD risk.

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Development

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Background: By the time they reach school age, children with Autism Spectrum Disorder (ASD) are known to differ from developmentally delayed (DD) children in their patterned reactions to various stimuli. However, less is known about how those patterns of hyporesposiveness—or a lack of response to stimuli—and hyperresponsiveness—or an extreme response to stimuli—manifest when those children are younger than school age.

What’s New: In a report published in the American Journal of Occupational Therapy, researchers detail a qualitative study of home videos featuring 12 children—six with ASD and six with DD. From the videos, which were taken when the children were between 0 and 2 years old, the researchers discerned behaviors associated with hyporesponsiveness and hyperresponsiveness, as well as sensory repetitions such as mouthing objects. They found that children in the ASD group displayed patterns not present in the DD group: The children either remained hyporesponsive from infancy to school age, or they shifted from hyporesponsive behaviors to sensory repetition as they aged.

Why it’s important: Studies have shown that early diagnosis and intervention for ASD yields positive outcomes for the affected children. Further research on sensory patterns in infants and toddlers could implicate hyporesponsiveness as a behavioral precursor for ASD, leading to an earlier diagnosis.

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Autism Profile

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Background: Prior studies have indicated that more males are affected by autism than females, at a rate commonly reported to be 4:1.  However, this gender difference may be partly due to an underdiagnosis of females because females may present different manifestations of the disorder than males.

What’s new: In a study published in the journal PLoS One on 17 October 2012, researchers compared cognitive task performance between adult males and females with and without autism. On tests measuring non-verbal communication, males and females with autism produced similar results.  In contrast, on tasks measuring executive functions,,such as planning and attention to detail, males with autism scored significantly worse than males without autism, but females with autism performed similar to unaffected females.  The authors of the study suggest that some cognitive abilities affected in autism may be gender specific.

Why it’s important: This research suggests that gender-specific diagnostic tests and therapeutic interventions may more effectively treat and diagnose autism.

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Communication

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Background: Anxiety is defined by fear and uncertainty. Although most episodes associated with stress are brief, this condition can last for several months. Many teens and children deal with this common mental health issue. Previous research indicates that anxiety affects children with high-functioning autism spectrum disorders (ASDs) at twice the rate as typically developing peers. A group of scientists at the University of Colorado developed a program, called Facing Your Fears (FYF), which uses cognitive behavior therapies to help children (8–14 years of age) with ASD manage anxiety.

What’s new: The Colorado scientists adapted the FYF program to help young adults (13–18 years of age) with ASD manage anxiety during the difficult teen years. The modifications to the study included a focus on social skills, parental involvement, and use of technology to help the participants develop coping strategies to lower anxiety. The participants in the program reported decreased feelings of social anxiety, separation anxiety, and generalized anxiety at the end of the program and at the three-month follow-up. Although the feelings of panic increased slightly at the three-month follow-up visit, the values were still lower than the baseline. Finally, feelings of school anxiety decreased at the three-month follow-up compared to treatment and baseline values.

Why it’s important: This study is one of the few cognitive behavioral therapies that target teens with ASD. The positive results from the participants, although few in number, suggest that the FYF program could be adapted to help this group manage anxiety. Future work may incorporate experimental designs and a larger number of participants to determine the most effective therapy components in the program.

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Autism Therapy

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