NEW Video App Aids Earlier Autism Diagnosis

child playingAccording to a recent study, identifying autism through videos taken from a parent’s smartphone was found to be 87 percent as accurate as an in-depth, in-person diagnosis. This provides parents with a new, relatively simple opportunity to have their child diagnosed at an earlier age.

According to the Naturalistic Observation Diagnosis Assessment, or NODA system, a simple video of the child in several natural settings can lead to a potential diagnosis. The assessment is used as an app, developed by Behavior Imaging Solutions in partnership with Georgia Tech and Southwest Autism Research and Resource Center. The app utilizes a 10-minute video of a child in three settings: during a meal, playing on their own, and playing with others. An additional video can be added if the parents wish to record actions that they find concerning. These videos can be used to assist the parents in addressing their concerns to a clinician.

Agata Rozga, researcher at Georgia Tech, states, “The problem is that despite all the increased awareness of autism, we’re still seeing pretty significant delays between when parents first notice that there’s something off about their child and when we’re actually able to get them into the office for a diagnosis.” She continues, “The kids are missing out on treatment during that early crucial time.” Rozga emphasizes that parents should focus on what they think clinicians will need to see in order to provide an accurate diagnostic assessment. Therefore, it is essential for parents to consider what scenarios would be best to record.

Once the videos are recorded, they can be uploaded to the clinician. Physicians are able to tag the video with certain criteria for autism, make notes, and facilitate a quantitative diagnosis process. The simplicity of being able to record a video and have clinicians make an assessment addresses one of the major issues that parents face, which is waiting long periods of time to have their child screened for ASD, forcing the child to wait to receive the therapy and care that could make a great difference in their life.

In an initial clinical study, 32 children participated in the assessment. Parents followed the NODA protocol, as well as took the child to an in-person clinician who was unaware of the NODA process. According to their findings, eighty-seven of the diagnoses matched up, with more false positives than false negatives in the ones that were inaccurate. Researchers are now looking to conduct a much larger study, slated to begin in January.

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Motor Coordination Issues Due to Abnormal Neuron Connections

motor skillsAccording to researchers, motor coordination issues in individuals with autism disorders may be due to abnormal connections between neurons. Scientists from the University of Chicago identified malfunctions in the neural circuit associated with reduced capacity for motor learning. Individuals with autism are known to struggle with various motor skills, such as sitting still, having balance, and holding eye contact.

Dr. Christian Hansel, professor of neurobiology at the University of Chicago states, “We have identified synaptic abnormalities that may play a role in motor problems typically seen in children with autism.” He continues, “Autism is sometimes described as intense world syndrome – too many, too strong excitatory connections that lead to enhanced sensory input. The results of our study might shed light on this phenomenon”.

To analyze how motor issues may arise in individuals on the spectrum, Dr. Hansel and his team created autistic mouse models, implementing them one of the most common genetic abnormalities in autism, the chromosomal duplication 15q11-13. They then studied the cerebellum, which is heavily involved in motor capabilities. The team found that the autistic model mice demonstrated motor deficits by having impaired learning.

In their study, Dr. Hansel and his team taught normal mice to associate a short light signal with a puff of air to the eye. Quite rapidly, the neurotypical mice began to blink in response to the light, even with the absence of the air puff, signaling they know of the association to one another. However, the autistic mice were much slower to pick up on this, and made mistakes more often.

To analyze why the autistic mice models had slower physical responses, Dr. Hansel and his colleagues studied Purkinje cells, neurons heavily involved in motor learning. These cells can affect the sites of connection between neurons where signals are passed, becoming one of the primary mechanisms for learning and memory. In the autistic mice, the ability of Purkinje cells to depress the efficiency of their synapses was significantly reduced, limiting their ability to participate in motor learning. Dr. Hansel states that a likely cause is impaired synaptic pruning, a process that enables the trimming of unneeded synapses.

Dr. Hansel adds, “Inefficient synaptic pruning seems to be a common motif in autism.” He continues, “A direct link between synaptic studies and behavioral output is almost impossible to do with social behaviors, but we can now accomplish this. This is due to the relative simplicity of the motor system, and because the cerebellum is evolutionarily conserved, allowing for comparisons between mice and man.”

 

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Available Treatments for Autism

For parents of children with autism, there have been many unresolved questions on how to best provide treatments for their child. Prior to pinpointing the effects of autism and being able to put a name to it, many children with autism were placed in institutions due to lack of information, research, and treatment.  Today, autism is well researched, and a variety of treatments and services have been developed and have been made available.

 

With the appropriate services, support, training, and information, children on the autism spectrum can grow, learn, and flourish alongside other children. Although there is no known cure for autism, there are great options for treatments and therapies, including a conducive learning environment which could best address the needs of children with autism.

 

Most organizations are taking a proactive approach to autism, with research being conducted in multiple ways. Research has found that there is not one particular way of identifying people with autism, but there are collective behaviors and symptoms that can potentially signal the disorder. Previous research has found that it is best for autism to be identified as early as possible in a child’s life, to better accommodate all of their needs and address their newly developed behaviors, or prevent certain behaviors from forming.

 

It is imperative that families learn about all of the options and treatments that are available to them, which could best address their child’s needs and the optimal method of teaching their child. Children develop differently based on age and interactions, so a program should be selected to address a child’s developmental state and capability.

 

Although there is not one particular treatment that will address all of the behaviors and needs of a child, a combination of therapies and efforts can make a difference in their lives. It is important to match a child’s progression and specific needs with the best treatments suited for that particular child, which assist him or her to achieve the goals established by their parents or teachers.apicblog

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The Link between Common and Rare Forms of Autism

synapseAccording to recent research, rare forms of autism share a molecular signature with more common versions of the disorder. This finding is particularly intriguing to medical researchers, as it leads them to believe that autism is linked to a single genetic defect, also found in more complex forms of the disorder.

Researchers at the 2014 Society for Neuroscience annual meeting stated that a rare form of autism is linked to a duplication of the 15q11-13 chromosomal region, which is also duplicated in more common forms of autism.  Approximately 1 in 12,000 children carry the duplication, with about 41 percent of these individuals having autism.

Daniel Geschwind, lead researcher, analyzed patterns of gene expression in postmortem brains for 16 adults with idiopathic autism, meaning there was an unknown cause, along with the brains of 8 with autism and 15q11-14 duplications. According to their findings, the brains of those with idiopathic autism express lower levels of genes that play a role at neuronal junctions, or synapses, compared with controls. They were intrigued to find that the brains of those with the duplications showed the same trend, only to a more severe extent.

Geschwind, a professor of neurology, psychiatry, and human genetics at the University of California, Los Angeles, states, “It’s kind of remarkable. This is showing that a single gene disorder has the same pattern [as idiopathic forms of autism].”

Last month, two large studies that sequenced exomes, the parts of a genome that encode proteins, discovered that 50 “high-confidence” autism candidate genes are involved in two critical processes, neuronal connectivity and the control of gene expression. Geschwind states, “The proof is the replication. Although autism is very heterogeneous, we can capitalize on these findings to identify common molecular pathways.”

Geschwind and his team believe that autism, in all its forms, may develop from inherited genetic defects, causing dysfunctional synapses. In an attempt to correct the dysfunction, the brain sets off an inflammatory response, resulting in fewer active synapses, creating an imbalance between excitatory and inhibitory signaling, common to all those on the autism spectrum.

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Broccoli Improves Autistic Social and Verbal Behaviors

broccoli sproutSeveral weeks ago, a study was released that emphasized how the intake of certain vegetables can actually improve several symptoms of autism. Now, scientists are stating that a specific extract from broccoli sprouts may be used to curb these symptoms. This new study is a first step towards potentially providing effective treatment for those on the spectrum.

Johns Hopkins Hospital, in conjunction with Harvard, conducted a study over the course of 18 weeks, treating 40 autistic males. Twenty-six of these males took pills with sulforaphane, an extract from broccoli sprouts, with the remainder receiving a placebo. Dr. Paul Talalay, professor of pharmacology and molecular sciences at Johns Hopkins, study author, found that patients who took sulforaphane improved significantly. Almost half of the patients treated with the extract had “much improved” social interaction and verbal communication. Furthermore, more than half exhibited less erratic behaviors.

Upon completion of the series of taking the extract, the researchers found that the participants returned to their baseline levels for their symptoms within four weeks, signaling a need to continue with the extract to achieve the optimal benefits. Dr. Talalay states that although further research needs to be done to study how sulforaphane reacts in the body, their previous research suggests that the extract can cause the body to react as it would to a fever. Fevers are typically associated with temporary improvements in over a third of individuals with autism, so the researchers believe sulforaphane may work similarly.

Dr. Susan Hyman, chief of neurodevelopmental and behavioral pediatrics at the University of Rochester Medical Center, states, “The trial needs to be replicated and evaluated in larger and more age-diverse samples, but the data is certainly worth pursuing”. With the lack of effective treatments for individuals on the spectrum, the results of this study provide hopeful news. Sulforaphane is associated with very few side effects and is considered highly safe due to its natural origins. However, families should not administer sulforaphane to an individual on the spectrum without medical guidance.

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New App Aims to Create Individualized Treatment Plans for Children with ASD

children with tabletMore than ever, parents and educators of children with autism have been utilizing technology to help these children develop various skills. Now, researchers are finding that apps and touch-screen games can possibly allow scientists to tailor treatments for children on the spectrum.

A new game designed for tablets has been designed to evaluate implicit learning, which takes place without the learner being aware or being explicitly taught. Many of the skills that autistic children struggle with, such as language and social abilities, are learned implicitly. Implicit learning is becoming increasingly essential in understanding autism disorders, as well as critical in helping children develop important skills more effectively.

Rebecca Jones, postdoctoral researcher at Weill Cornell Medical College in New York, who presented the results of the study, states, “This is the age at which many children with autism are receiving behavioral intervention.” Studying this particular age group is essential, as behavioral interventions often involve implicit learning. In Jones’ initial study, 19 children between the ages of 3 to 7 were given a tablet to play a game based on popular cartoons. The primary object of the game was to tap the screen when they saw a specific character, in this case, SpongeBob Square Pants.

Approximately 75 percent of the time, a specific character, a squid, appeared on the screen right before SpongeBob’s appearance, while the remaining 25 percent featured a snail character prior to SpongeBob’s arrival. The researchers deemed these characters as clues to the children’s implicit learning abilities. They analyzed how fast the children were able to touch the screen when SpongeBob appeared.

As the game progressed, they found that the children subconsciously picked up on the fact that the squid character foreshadowed SpongeBob’s appearance. The researchers noticed that after a while, the children were slower to acknowledge SpongeBob when he appeared after the snail. Although they are not clear as to why this happened, Jones states, “the important thing is the difference between the low-probability and high-probability clues”.

The study suggests that moving from an implicit to explicit awareness may be critical in developing various methods of learning. This progression is particularly important for children on the spectrum, who often learn by more explicit methods, such as learning how to interact socially by being told repetitively, in detail, how to get along with others. Or rather, this study may be a signal for interventions to move children from explicit learning to more implicit, intuitive methods.

Researchers are still introducing the game to larger numbers of children with autism spectrum disorders, aiming to pinpoint the deficits in explicit learning, and where implicit learning can fill the void. Furthermore, they are seeing if the game can predict the effectiveness of three-month behavioral interventions for children on the spectrum. This approach can lead to “learning profiles” for the child, giving them therapies that will be most effective in their development.

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The Relationship Between Autism and the Cerebellum

cerebellum
Researchers recently presented the defects in a section of the cerebellum that is correlated to language problems in individuals with autism, highlighting the importance of examining this region of the brain to help understand the disorder.

Individuals with autism often have trouble responding to something they see, which is a process controlled by the cerebellum. The cerebellum receives inputs from sensory brain regions such as the visual cortex, sending out signals to the motor complex. Until recently, researchers did not focus on the cerebellum when trying to analyze the complexities of autism, however they are beginning to emphasize its importance.

Matt Mosconi, assistant professor of psychiatry at the University of Texas Southwestern in Dallas, went into detail about how individuals with autism have difficulty taking visual information and following through with an action, therefore resulting in the feeling of being anxious or overwhelmed. Mosconi and his team of researchers tested the ability of individuals translating visuals into actions by having participants to match and maintain the position of two lines on a screen by squeezing a sensor in their hand.

Researchers modulated the system so that the same amount of pressure can move the line by a lot or a little. Mosconi and his colleagues scanned the brains of 20 participants with autism and 23 controls, finding that different brain pathways are involved when the test is at its most or least sensitive. Overall, they discovered that individuals on the autism spectrum struggled to hold the bar still.

People with autism have weak responses in circuits connecting into and out of the cerebellum when the bar was only moving in subtle ways. When the sensor was highly sensitive, the participants showed hyperexcitiability in the sensory regions outside of the cerebellum. Mosconi states, “In a sense, they’re just more sensitive to any changes in the visual feedback in any direction”.

A separate team of researchers used brain scans to link defects in different regions of the cerebellum to language delay in autism. The team looked at 35 people with autism, 13 of whom have language delays, and 35 controls. The participants with autism have less gray matter, particularly in one subregion of the cerebellum called the right crus1. Participants who have both autism and language delays showed a decrease in gray matter in the left crus1.

Most individuals with autism process language on the right side of their cortex, which interacts with the left side of the cerebellum. Catherine Stoodley, lead researcher and assistant professor of psychiatry at the American University states, “Within the cerebellum, you see different [circuit] loops depending on where you are.” She continues, “I think we’re getting more sophisticated in our take on the cerebellum and autism.”

In the future, researchers aim to use brain scans to analyze further links between the cerebellum and other parts of the brain. Studies are also trying to pin down the specific subregions of the cerebellum to understand their various functions.

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Treating GI Troubles May Improve Symptoms of Autism

probioticsAccording to several research studies, autism disorders are affected by activity in the gut. Stress and anxiety can create stomach pains, cramps, and spasms, and furthermore, create further issues within the brain. Although autism is an incredibly complex disorder, scientists have found promising clues within the digestive system. Research discovered that there is a significant difference in the bacteria found in the intestines of children with autism in comparison with that of their neurotypical peers.

Researchers at the California Institute of Technology have reported that not only is the gut bacteria in autistic individuals different, but it may actually contribute to the disorder and create some of the well-known symptoms. Although autism is primarily treated through behavioral therapies, new studies suggest that treatment can come in the form of live, “friendly” bacteria, such as probiotics. Paul Patterson, professor of biology at Caltech, states, “If you block the gastrointestinal problem, you can treat the behavioral symptoms”.

One of the primary health issues of children on the autism spectrum is gastrointestinal problems. Previous studies have estimated that upwards of 90 percent of autistic children suffer from a range of gastrointestinal troubles. Furthermore, according to the CDC, they are over 3.5 times more likely to experience chronic pain such as constipation in comparison to their neurotypical peers.

In order to examine why children on the spectrum may suffer from these troubles, researchers at Arizona State University analyzed the gut bacteria in a sample group of autistic children, as well as a control group. They found that the autistic children had many fewer types of bacteria, making the gut more vulnerable to attacks from disease-causing pathogens. Elaine Hsiao, postdoctoral researcher at Caltech, began to study how the gut microbiome may be responsible for autistic behaviors.

To test this, Hsiao and her team of researchers injected a mock virus into pregnant mice. These female mice went on to give birth to offspring with autistic symptoms, such as obsessive grooming, anxiety, and a sense of unawareness. These mice developed a “leaky gut”, in which gut bacteria trickled into the bloodstream and into the brain. As a result, the bacteria leak may have had a significant influence on behavior. Hsiao found that the blood of autistic mice contained 46 times more EPS, a molecule produced by gut bacteria, than in their control group. To treat this, Hsiao gave the affected mice B. fragilis, a probiotic to treat GI symptoms, in their food. Within five weeks, the levels of 4EPS in their blood had plummeted, and the gut microbiome began to resemble that of a healthy mouse. Their behavior also improved dramatically, as they were noted to be less anxious and more aware of their surroundings.

This study provides a great lead to further examine how probiotics may help autistic children with severe GI problems. A clinical trial will reveal if these positive results can apply to humans. Hsiao states, “It’s really impactful, this notion that by changing the bacteria, you could ameliorate what’s often considered an intractable disorder. It’s a really crazy notion and a big advance”.

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Certain Behaviors May Predict Autism in High-Risk Children

childrenYoung children with an autistic sibling are often at high-risk to develop the disorder as well. Recently, researchers have studied three distinct behavior profiles in toddlers with autistic siblings to predict an autism diagnosis at age 3.

Researchers studied 719 children with autistic siblings. According to previous studies, these younger siblings are nearly 20 times more likely to develop autism than those without a family member on the spectrum. The researchers analyzed different behavior profiles associated with autism, such as difficulty making eye contact, repetitive behaviors, and lack of communicative gestures. Their findings point to multiple developmental pathways to the disorder, meaning that autism cannot truly be identified by a single behavior.

Study leader Katarzyna Chawarska, associate professor of pediatrics at Yale, states that clinicians should pay special attention to the combinations of behaviors that her team studied in 18-month old children. She adds, “I think the best way of identifying these children is to look for combinations of markers, not a single marker.”

Chawarska and her colleagues analyzed data from a randomly selected subgroup of 565 toddlers, with siblings on the autism spectrum. At the age of 3, 122 of these children were diagnosed with autism, 138 showed signs of social and/or cognitive delays, and 305 were neurotypical. They analyzed the children through a diagnostic test called the Autism Diagnostic Observation Schedule, and classified the children into three groups (typical, atypical, and autistic) based on their scores for six items.

Their analysis discovered that three behavioral combinations are a strong signal for an autism diagnosis. The first profile describes children who have difficulty making eye contact and communicating through gestures. Children with the second profile have difficulty making eye contact but do not engage in imaginative play. The third profile consists of children with just a bit of trouble making eye contact, but that show repetitive behaviors.

In total, their algorithm flagged 57 percent of the children that were later diagnosed with autism. Their classification system was even more accurate at identifying typically developing siblings, indicating that the system is better at ruling out autism than fully detecting it. By studying combinations of behaviors, the algorithm improved the predictive value of a single behavior. For example, the study suggests that lack of eye contact alone is a poor indicator of autism. However, the presence of atypical eye contact in combination with nonverbal communication or lack of imaginative play can significantly increase the likelihood of autism.

Stelios Georgiades, assistant professor of psychiatry and behavioral neurosciences at McMaster University states, “By identifying the combination of symptoms and behaviors, we’re becoming more specific about what to look for”. The findings of this study suggest that siblings of children on the autism spectrum should undergo evaluations for the disorder periodically up to the age of 3. These evaluations can lead to an earlier diagnosis, allowing for earlier opportunities for therapies and optimal care.

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New Study Sheds Light on Genetic Mutation Linked to Autism

gene mutationA study utilizing mouse models has found new evidence towards how autism develops. The transgenic mouse model could lead to improvements in the diagnostic and treatment process for those on the autism spectrum.

Researchers at Vanderbilt University recently inserted a genetic variation into mice, creating a mutation which is commonly found in people with autism, ADHD, and bipolar disorder. This mutation affects the function of the dopamine transporter (DAT), a protein that regulates the brain’s supply of the neurotransmitter by removing excess dopamine from the synapse (the space between nerve cells).

The DAT mutation in individuals with autism causes the transporter to leak dopamine. Dr. Randy Blakely, senior author of the report, states, “[It’s like] a vacuum cleaner in reverse.” The mice with leaky DAT proteins have too much dopamine in and around their synapses, resulting in unusual behaviors. For example, they exhibited rapid, sudden movements, which they described as a “darting behavior”. While other mice were quiet and mostly unresponsive when researchers picked them up, those with the mutation were hyperactive, and as Dr. Blakely states, they would “take off”.

Dr. Blakely adds, “Early on, we could tell which ones carried the mutation by observing this response.” In addition, typical mice often explore their cages, while the mice with the mutation did not. Dr. Blakely states, “We wonder whether this may be a sign that the behavior is driven less by searching for clues to appropriate behavior versus acting on innate impulses.”

The effects of both amphetamine and methylphenidate (Ritalin) were also affected by the mutation. In neurotypical individuals and animals, the stimulants flood the synapse with dopamine, creating hyperactivity. However, when given to the mice with the mutation, the drugs quelled hyperactive and impulsive behaviors. As a result, Dr. Blakely and his team are contemplating how Ritalin may reduce the dopamine leak in children with autism and ADHD. He states, “These mice may give us much better clues as to how these drugs are acting.”

The darting mice have exposed specific behaviors that are directly linked to a specific mutation, as well as how Ritalin may suppress the behaviors to an extent. Dr. Blakely and his team are now focused on how to find the optimal treatments for other specific mutations.

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