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Rachel Zamzow

NEUROLORE

Stories about neuroscience.

When Silver Bullets Hurt

5/28/2014

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The apparent increase in autism prevalence over the past decade has driven this disorder into the focus of our nation. This attention has led to a race for the cure, so to speak, a desperate search for a silver bullet to unlock the secrets of autism and cure its wide-ranging symptoms.

But this race is futile. Autism is extremely complex with both genetic and environmental factors, and no single treatment is likely to benefit everyone with autism or improve more than a few of its many symptoms. Searching for a silver bullet is not only pointless but also dangerous, as some of the proposed cure-alls may actually hurt more than they help.

The Food and Drug Administration recently released a consumer update warning families against false claims of cures for autism. Some of the treatments under question include removing important metals from the body in a process known as chelation and an ingestible “miracle mineral solution,” which turned out to be bleach. In the report, the FDA warns that these treatments are not only largely ineffective but could also lead to “serious and life-threatening outcomes.”

When the treatments above have proven fruitless, doctor-salesmen in Panama and other foreign countries have offered up therapies usually reserved for cancer treatment, such as stem cell and bone marrow transplants. These highly invasive, unregulated treatments are only informed by the preliminary results of exploratory animal studies published over the last few years. Although a clinical trial for stem cell therapy in autism is underway, a reminder is needed: autism is not cancer, and it will not be treated effectively if viewed as such.

Even an FDA-approved medication for aggression and irritability in autism, risperidone, has come into question for serious side effects. According to recent studies, this antipsychotic drug may cause metabolic dysfunction and significant weight gain, while only providing behavioral benefits for some individuals. A recent study exploring the combined results of many other studies led to the conclusion that risperidone and a similar drug, aripiprazole, have “substantial adverse effects and that each compound has a specific secondary effect profile that should be taken into account in treatment decision-making.”

The available treatments for autism, whether quack or FDA-approved, have a skewed cost-benefit ratio, in which the risk of harmful side effects outweighs the chance of true benefits. Scientists need to take treatment research back to the core symptoms of autism, especially social communication deficits. The utility of combo-therapies, in which medication and behavioral therapy are given together, should be further explored.

Treatments should stem not from a trial and error approach, but from a bottom-up approach, in which core symptoms and their potential underlying mechanisms inspire treatment ideas. Ultimately scientists and physicians need to focus solely on research-driven, patient-centered treatments. Any supposed silver bullet is really just a shot in the dark.

​[This post was originally published at my previous blog, Neurolore.]
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Stories from IMFAR 2014: Autism (Un)awareness in Singapore

5/15/2014

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PicturePhoto source: Flickr
In Singapore, a highly developed, first-world country, autism awareness and educational support may be sorely lacking.

Over lunch today at the International Meeting for Autism Research in Atlanta, I sat next to Lela Iuorno from Singapore. Her eight-year-old son, Luca, has autism. Iuorno is at IMFAR hoping to learn more about available pharmacological and behavioral interventions for her son. She is particularly invested in autism research, as she is not only Luca’s parent but also his behavioral aide in school.

Behavioral aides, referred to as “shadow support” in Singapore, are not typically available in the school systems in Singapore. In fact, Iuorno has spent a lot of time trying to convince public schools in Singapore to provide access to behavioral aides in the classroom.

“It’s a lot of fighting,” she said. When Luca had attended three different schools before he finished preschool, Iuorno decided to take the reigns herself. She now attends school alongside Luca 5 days a week, providing the assistance he needs to stay focused during his classes. She works nights and weekends to offset the lost income she would have if she wasn’t serving as Luca’s aide. She’s constantly working to do what’s best for her son, she said.

“I feel like a one woman army,” she said.

Another obstacle Iuorno has encountered in Singapore is a lack of understanding amongst teachers and students about what autism actually is. There is a common misconception that autism is a temporary condition. Teachers have told Iuorno that when Luca “gets better” his experience at school will improve.

Additionally, students like Luca who have autism but do not display obvious behavioral symptoms, such as outbursts, are assumed to be fine. Thus, their individual barriers to learning are largely ignored.

“These children can’t survive [in public schools],” she said. Yet, there are few private special education schools in Singapore, and, of the ones that exist, getting in is difficult.

Despite its developed status, Singapore lacks well-organized special education systems for autism, in which trained behavioral aides are available. But, more importantly, Iuorno believes Singapore is in need of accurate awareness about autism and its heterogeneous symptoms. This unawareness is hurting the education of children like Luca.

“It’s true and it’s sad,” Iuorno said.

​[This post was originally published at my previous blog, Neurolore.]

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A Breath of Not-So-Fresh Air

6/26/2013

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A paper published last week in Environmental Health Perspectives had the autism community all atwitter last week, quite literally. It was clear something was up when my Twitter feed suddenly filled up with tweets about a national study, led by Andrea Roberts and colleagues at Harvard University, “confirming the link between autism and air pollution.”

Utilizing Environmental Protection Agency records of hazardous air pollutant concentrations, the researchers examined levels of air pollution in the year and location in which women lived when they gave birth to their children. These mothers were enrolled in the Nurses Health Study II, a large sample of female nurses that has been followed since 1989. To focus their investigation, the researchers studied air pollutants previously found to be associated with autism, such as metals and diesel particulate matter. Overall, they found positive associations between perinatal exposure to several air pollutants and autism, meaning the greater the concentration of these pollutants, the greater chance of a child having autism. They also showed that some of these associations were stronger for boys than for girls.

However, this highly publicized study on air pollution is not exactly a breath of fresh air. Several things reveal weaknesses in the design and interpretation of this study:

1. On Twitter, Forbes writer Emily Willingham, made an interesting point:





Air pollution may be related to autism, just as countless environmental factors are, but it clearly isn’t a major player in its etiology, or causation (as much as I hate to use that word). For more of Emily’s thoughts on the autism/air pollution relationship, see this insightful post about a previous study.

2. While the Nurses Health Study provided a large sample, there is a significant confound with only studying children born to nurses. In an Autism Research paper, Gayle Windham and colleagues demonstrate a relationship between maternal occupational exposure to chemicals, as well as other potential toxins, and autism. Particularly, maternal exposure to disinfectants, as can be seen in nurses and other medical professionals, seemed to be related to autism.  While this finding doesn’t negate the air pollution finding, it certainly complicates the picture.

3. The children in the autism group in this study were noted as having autism, Asperger’s and PDD-NOS, or, as was explained more vaguely, “may have been on the autism spectrum.” Including multiple subtypes of autism in a study sample is common, but, again, it provides another confound, especially considering the subtype-specific findings related to smoking during pregnancy, which I discuss in this post.

4. Regarding the researchers’ interpretation of these findings, there was much to be desired. Yes, an association between air pollutants and autism was demonstrated. But why or how? In other words, what potential genetic or developmental underlying mechanisms are set into motion by air pollution exposure? For now this is just a correlational, not causational, finding. Simply stating the supposed existence of an association doesn’t provide many answers.
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While an interesting concept, the autism and air pollution “link” needs further exploration, and, hopefully, a more reserved reception as future studies are published.

[This post was originally published at my previous blog, Neurolore.]


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Risk factors in autism: A deeper look at the subtype argument

6/18/2013

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It has been well demonstrated that prenatal (during gestation) and perinatal (after birth) risk factors are associated with autism spectrum disorders. But which risk factors have a significant relationship with the prevalence of autism remains up for debate. Several papers argue that maternal stress during pregnancy is an important risk factor for autism, but even this proposition is muddled, as several prenatal stressors do seem to be related to autism (e.g., the experience of a natural disaster, loss of a loved one), whereas others, albeit surprisingly, do not (e.g., physical abuse).

An answer to these discrepant findings may lie an argument supported by many autism researchers: that autism is a conglomeration of several distinct subtypes, each with their own genetic and behavioral profile. If there exist specific subtypes of autism, is it possible that one risk factor may contribute to one subtype while not influencing the occurrence of another?

A recent paper published in the Journal of Autism and Developmental Disorders asks this very question. Janne Visser and colleagues from Radboud Unversity in The Netherlands argue that defining autism broadly versus narrowly affects which risk factors seem to have a significant impact. In their study, research participants underwent an extensive diagnostic protocol, including the standard diagnostic measures for autism (ADI-R and ADOS) as well as several other diagnostic tools. Following the diagnostic protocol, participants were classified as either having autistic disorder (AD), a narrowly defined diagnosis, or pervasive developmental disorder-not otherwise specified (PDD-NOS), a more broad diagnosis. Parents of these children and those of matched controls completed a survey with questions pertaining to many pre- and perinatal risk factors.

The most robust finding in this study was an expected one. When the AD and PDD-NOS groups were combined into one autism spectrum disorder group, this group demonstrated an increased occurrence of several risk factors, including maternal infections, prenatal stress, and low birth weight, as compared to the control group. The occurrence of these risk factors was also related to the severity of core autism symptoms, such as repetitive behaviors and impairments in communication.

Interestingly, however, when the AD and PDD-NOS groups were compared to each other, one risk factor, smoking during pregnancy, stood out as being significantly related to PDD-NOS, but not AD. Smoking during pregnancy was also related to lower IQ, but only in the PDD-NOS group, a finding that remained even after controlling for birth weight, which is commonly affected by smoking. This distinction between two autism subtypes provides support for the argument that subtypes of autism (narrowly versus broadly defined) may have different environmental and genetic influences.

Smoking during pregnancy is also a risk factor associated with ADHD, suggesting that this disorder may have underlying mechanisms similar to those of PDD-NOS, but not of AD. These mechanisms may be more than environmental, as Visser and colleagues propose. Smoking during pregnancy may be associated with specific genetic traits that can be passed from mother to child. These traits may contribute to the development of disorders, such as PDD-NOS and ADHD.
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Why smoking during pregnancy wasn’t related to AD remains to be seen. It’s clear, however, that future studies should examine risk factors as they relate to not just autism in general but to specific subtypes of this disorder. Fortunately, the subtypes argument is being supported increasingly in the field of autism research. Although it begs more questions about each subtype and its associated characteristics, the subtypes argument provides a more focused and realistic approach to studying the true spectrum that is autism.

​[This post was originally published at my previous blog, Neurolore.]
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Autism or the Lack Thereof

1/8/2013

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Can you see the figure on the left within the figure on the right? (hint: try looking at the lower left corner of the figure on the right).  In a journal articlepublished last month, Michael Spencer and colleagues from Cambridge explained that while people with autism perform normally on tasks like this one, they demonstrate deficits at the level of brain activation while performing such tasks.

The authors state that people with autism demonstrate a failure to deactivate certain brain regions that make up the default mode network when performing complex tasks like the one pictured. These regions, including the prefrontal cortex and the posterior cinguate cortex, may be collectively responsible for abstract mental activities like day dreaming. Why would deactivating the default mode network be important when performing complex tasks?  In a way, taking certain parts of the brain offline clears the air from distracting thoughts, allowing one to focus on the task at hand.

What’s interesting is that the authors not only found this failure to deactivate in people with autism but also in their siblings who don’t have autism.  In other words, when performing a task similar to the one above, the brain activity of brothers or sisters of people with autism looks more autistic-like than typical.  The authors present this finding as a potential endophenotype, or marker for familial risk, of autism.  Though this finding is only preliminary, it shows that siblings of people with autism (who share some genetic similarities with their siblings) may display certain traits that are indicative of autism, without actually having the disorder.  If this concept holds, it could provide a better picture of what goes on genetically in autism, or in the lack thereof.

​[This post was originally published at my previous blog, Neurolore.]


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Tuesday Thoughts: Immune Function in Autism and (of course) Heterogeneity

9/18/2012

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PictureExample of an antibody.
Last week, Dr. Judy Van de Water of UC-Davis gave a talk about current research on immune system dysregulation in autism at theThompson Center here at MU.  This talk came at an opportune time, as many debates have spurred from some recently published reviews on this topic.   Dr. Van de Water presented some exciting findings, but, refreshingly, remained hesitant to overgeneralize their implications.

Throughout her talk, Dr. Van de Water illustrated potential relationships between the immune system and the development of autism.  For instance, out of the hundreds of gene variants thought to be associated with autism, many are related to immune function.  Also, studies have found alterations in the expression of these genes, as well as abnormal activation of immune-related brain cells and altered brain and cerebrospinal fluid levels of cytokines (immune-related signaling molecules), in autism.

Dr. Van de Water emphasized, though, that the data behind these findings represent the mean (or average) of individuals with autism, not the majority.  These findings do not reflect the inherent heterogeneity (or variability) of immune function in autism.  Dr. Van de Water expressed that while some individuals with autism may have a hyperactive immune system, others may have immune system deficits, and still others may have completely normal immune function.

Additionally, Dr. Van de Water presented findings related to antibody production and autism.  Antibodies function as the body’s defense system against foreign substances and are upregulated in states of immune system activation.  Some antibodies, called autoantibodies, may fight against the body’s own cells.  In autism it seems there are higher levels of autoantibodies in certain brain regions, such as the cerebellum.  This heightened antibody response in the cerebellum may be related to decreased cognitive abilities.

Lastly, antibodies may be related to the development of autism in utero, as some maternal antibodies can cross the placenta and affect fetal brain development.  Some mothers of children with autism express a specific pattern of these antibodies.  Interestingly, a polymorphism of the immune-related MET gene may lead to these altered patterns of antibody expression, meaning this MET variant may function as a susceptibility gene for autism.

At the end of her talk, Dr. Van de Water described a blog post she was asked to write for the Simons Foundation Autism Research Initiative website in light of the thought-provoking columnon autism and immune function published in the New York Times. In her post she emphasizes the heterogeneity of autism, and that “generalizing the findings [related to immune dysregulation] from one subtype or group to another can be dangerous where treatment is concerned.”  As has been demonstrated before, the questions related to the study of autism greatly outnumber the answers.  Instead of overgeneralizing the answers, we need to keep asking the questions.

​[This post was originally published at my previous blog, Neurolore.]

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Tuesday Thoughts: Autism, Hurricanes, and Mud

9/4/2012

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A big theory in autism research involves what is called prenatal stress, or maternal stress.  The idea is that a stressful event, such as a hurricane, experienced during a woman’s pregnancy may lead to an increased risk of her child having autism. Several studies supporting this idea have been published.  For example, one of my advisor’s papers, published in 2005, demonstrated that the experience of stressors during a specific time period during pregnancy (weeks 21 to 32) may be related to an increased risk of autism.  Stressors were assessed via surveys and included events like the death of a spouse or being fired from a job.

Confusingly, however, these results conflict with those of very recent studies.   It seems this idea may not be as simple as originally thought. This past June, a paper was published that did not find an increased risk of autism associated with prenatal stress.  This study examined many of the same stressors experienced by pregnant women as those of the above paper, yet the authors did not find the same results.

Results from another study, presented at the 2012 International Meeting for Autism Research, further complicate this picture.  The study examined the incidence of autism in children of mothers who experienced psychosocial stressors, such as physical abuse, during pregnancy.  The twist is that physical abuse experienced during pregnancy was not associated with an increased risk of autism.  Instead, children of women who experienced fear of their partner or physical or emotional abuse in the years just before giving birth had a higher risk of autism.
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Why did two very similar studies produce opposite results? Why does it seem that physical abuse during pregnancy is not associated with autism when abuse beforehand is? Many reasons may lie beneath these conflicting and confusing results.  Potentially, gene variants associated with autism are playing a role alongside prenatal stress in causing this disorder. Or different techniques used to carry out the above studies may have contributed to the differing findings. Otherwise, the reasons are about as clear as mud.  For now, the best we can do is put on our finest analytical goggles, jump into the data, and start sorting through the mud.

[This post was originally published at my previous blog, Neurolore.]


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Tuesday Thoughts: Pieces of the Puzzle

8/29/2012

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The world of autism research has been hopping lately with several new studies claiming to explain potential causes of autism and the apparent increasing incidence of this disorder.  The media, including major publications, has jumped on board with the excitement about these findings.

One study outlines the potential of increased age in fathers to heighten the risk of autism in their children.  The authors of this study explain that older dads pass on more small DNA mutations to their children than do younger dads, a difference which may explain some cases of autism.  Considering that, in the population studied, the average paternal age has increased over time, it’s easy to see how the authors also conclude that increased paternal age may contribute to the increasing incidence of autism.

Other studies recently published, and then reviewed in The New York Times, implicate heightened maternal immune response in the development of autism in the womb.  Infections such as the flu seem to bring about an exaggerated immune response in some pregnant women, leading to disruptions in the development of their children.  Many studies have demonstrated a relationship between this prenatal immune system dysregulation and autism.

What’s missing in the media’s interpretations of these studies?  In the midst of flashy results, the fact that autism is still largely unexplained gets pushed out of the picture.  Although there seem to be breakthroughs on the horizon, the studies outlined above may only account for a fraction of the cases of autism. These findings and their implications are just pieces of the puzzle.

Science writer Virginia Hughes stated in a recent piece,  “how many times do researchers have to say, ‘The cause of autism is really complicated’ before journalists and the public accept that the disorder can’t be explained by a gene, a brain scan, a father’s age, a gluten-rich diet or risk factor du jour?”
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I share Hughes’s sentiments.  We are dealing with what seems like a mega-10,000 piece puzzle, and we’ve yet to find all the pieces.  When we’ve gathered as may as we can, then, and only then, will we be able to put them together and start to explain.

​[This post was originally published at my previous blog, Neurolore.]


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Tuesday Thoughts: The Dangerous Rush

8/22/2012

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Last week, the Simons Foundation Autism Research Initiative (SFARI) displayed a news story on its website about bone marrow transplants reversing autism-like symptoms in mice.  This article immediately grabbed my attention because a bone marrow transplant is not a joke. The survival rate in humans is about 50% and there are a slew of extremely adverse effects from this procedure.  I had to read this article to see if the researchers were proposing bone marrow transplants as treatments for autism in humans.  Good news: they aren’t.  But, here’s the bad news:

As a result of this and other studies, families are traveling outside the US to have potentially dangerous procedures, such as one similar to bone marrow transplants, done on their children with autism.  Quoted in the news story, Judy Van de Water, an autism researcher at UC-Davis, expressed concerns about families seeking out such a procedure, which is “incredibly expensive with very little foundation in science to back it up.”

Reading this quote, I was reminded of phone calls my advisor got after his paper on propranolol and verbal fluency in autism was published.  Even though this drug study was small (with 14 participants) and not yet replicated in an extensive clinical trial, parents were asking about prescriptions for propranolol for their children.
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I understand the rush.  Dealing with a tantrum-throwing, even self-injuring, child with autism is enough to drive any parent to seek out any form of treatment.  But this rush is all too dangerous.  Adopted without adequately supportive research, investigational treatments can be disappointingly ineffective, or, worse, harmful.  Perhaps the best thing a desperate parent can do is wait; wait and listen for answers.  It’s these answers, not the temporary fixes or the illusory “cures,” for which we are carefully searching.

[This post was originally published at my previous blog, Neurolore.]


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Tuesday Thoughts: The Vaccine Vacillation

8/7/2012

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For many, when autism is mentioned, the first thing that comes to mind is vaccines. Or maybe Jenny McCarthy. The vaccine controversy has lead to a heated debate in the field of autism research and in the community of parents with autistic children.
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What caused this all-to-confusing issue?  One scientific paper.  This paper, published in The Lancet in 1998 and then fully retracted in 2010, revealed results linking autism to vaccines in 12 children. This paper was riddled with undisclosed conflicts of interest, falsified data, and irreplicable results. In fact, the lead author of the paper lost his medical license following an in-depth investigation of this paper.

Since the release of this paper, countless studies have been conducted to explore the potential autism-vaccines link.  No data has yet to support this link. In addition, the US has established a specific system, often called the Vaccine Court, to litigate claims related to vaccines and autism. 5,000 cases have been reviewed or are currently in process and, to date, only one has been shown to demonstrate a link between vaccines and a specific type of brain inflammation (which is not autism).

What’s the problem here?  Of course, there is a problem with the scientist who fraudulently published the 1998 paper.  But, there lies a potentially greater problem in listening to him.  This controversy has led to dramatic decreases in the rates of parents vaccinating their kids.  Accordingly, there have been increasing incidences of preventable diseases, like polio and whooping cough.  What’s interesting is that there has also been an increase in the incidence of autism, with the latest US estimates at 1 in 88.  Clearly, something else is causing this disorder.
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What are the solutions?  Ending this debate doesn’t fall solely into the laps of parents.  Yes, children need to be vaccinated and parents should stop lobbying against vaccines.  But, autism researchers need to better communicate the truth about vaccines and autism. They need explain more of their scientific findings to the general public. The vaccine vacillation is just one of many confusing chapters in the book of autism.  Scientists need to start writing in this book with a lay-oriented hand, and the public needs to keep reading it.

[This post was originally published at my previous blog, Neurolore.]


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