Every time you turn around there is another study contradicting the last on antidepressant use and autism risk. An answer on why there are differences across different studies may be found in a new analysis published by University of Washington and SSM Dean Medical Group in Wisconsin this week. They showed that autism severity (not risk) is increased only with both a likely gene disruption AND following antidepressant exposure in pregnancy together. This suggests a double hit model similar to other complex neuropsychiatric disorders like depression. It also suggests that findings from other chemicals, like PBDE’s, may be dependent on gene / environment interactions too. After all, a new systematic review showed PBDE’s during pregnancy are bad for the IQ of the child. This provides insight on ASD risk and subtype given the multitude of possible genetic / environmental combinations out there.
Advanced paternal age is one of the more replicated risk factors for autism – but maybe not autism as it as seen as a disorder. Recent studies by Mount Sinai School of Medicine and Kings College of London show in both animal models and in epidemiological studies that advanced age in fathers is associated with the “active but odd” phenotype and PDD NOS. In people, older (but not “old”) age in fathers led to increased IQ and social aloofness that led to higher academic achievement. Is this autism? Or just a subtype of autism where the outcomes are adaptive rather than maladaptive? There are lots of questions about the nature of autism in these findings.
This week, autism lost a pioneer and advocate for autism research: Isabelle Rapin, MD, a neurologist from New York’s Albert Einstein University. The first part of the podcast is a brief summary of her accomplishments. The second part is an study called “how to keep your child out of the hospital”, presenting a recent study which looked at risk factors for being an inpatient, rather than an outpatient. These risk factors may not be able to be prevented, but hopefully through identification of what they are, situations might be managed to help those with autism and their families during a crisis situation.
Two studies of importance came out this week. The first looked at the interactive effects of genetic mutations called copy number variations and air pollution. Previously, ozone was not listed in the factors in air pollution that increased risk for autism. But combine it with copy number variations – now the two together dramatically increase risk. Ozone levels are something that can be reduced through legislation. Second, the role of internet addiction is generally not acknowledged or appreciated, but a recent study demonstrated that people with autism show triple the rate of internet addiction compared to those without autism. This is something that psychiatrists and psychologists should know about when they think about treatments and comorbidities of people with ASD.
Scientists have studied males compared to females with autism, but rarely has there been studies about what clinicians see as differences in these two groups. Given that they provide insight on diagnosis, needs and access to services, it is kind of important to talk to them, and a study out this week in the journal Autism did just that. You can find the full text here:
Also, scientists are starting to understand the role of exposures in parents and how they affect diagnosis of autism in their children, but this week a new wrench was thrown into the wheel: researchers in the UK found that grandparental exposures play a role in autism diagnosis too. Luckily, this too is open access and you can read it for yourself. It was covered in the media and we have perspective from a parent included.
I discuss this second project with Jill Escher, founder of the Escher Fund for Autism and co-funder of the study.
This week summarizes some new studies looking at autism traits and autism diagnosis in girls with anorexia nervosa. While the two disorders may seem different on the outset, they do share some behavioral features. Unfortunately, most studies look at autism in those with anorexia, not the other way around. However, what is known is that there is not only higher levels of ASD traits in girls with anorexia, about 10% of girls with anorexia also have an autism diagnosis. This number can only be trusted if you look at both standardized observation instruments AND parental report. Studies determining the rates of eating disorders in autism are desperately needed for better treatment of symptoms.
As always, good news and bad news in autism this week. First the good news: an intervention given between 9-14 months of age in children with a high probability of having an autism diagnosis improved autism symptoms at 3 years of age. Now the bad: mothers who experience severe childhood abuse are more likely to have a child with an autism diagnosis. Why? A new study explains it might have a lot to do with autism traits in the parents. We would love to hear your thoughts on the results, please provide them in the comment section.
On Thursday, March 30th the Autism Science Foundation held their 4th Annual Day of Learning in NYC. If you were not able to attend and can’t wait for the videos of the talks, this week’s podcast attempts to summarize what was presented.
A list of the talks are:
- Autism Research: Where Are We Now? – Dr. Wendy Chung (Simons Foundation)
- Housing Options for Adults with Autism – Amy Lutz (EASI Foundation)
- Improving Communication Between Parents of Children with Autism and Teachers – Dr. David Mandell (University of Pennsylvania)
- Developing Clinical Biomarkers – Dr. James McPartland – (Yale University)
- Understanding Modifiable Autism Risk Factors – Dr. Craig Newschaffer (Drexel University)
- Helping People with Autism Develop Practical Skills – Dr. Celine Saulnier (Emory University)
- New Technologies to Improve Autism Diagnosis – Dr. Robert Schultz (Children’s Hospital of Philadelphia)
- Understanding the Female Protective Effect – Dr. Donna Werling (University of California, San Francisco)
David Mandell’s presentation on parent/teacher communication was based, in part, on this publication: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676744/
Last week, another Baby Siblings Research Consortium Project (BSRC) published an intriguing finding which also has the bonus of being a replication. Mark Shen, PhD, from the University of North Carolina at Chapel Hill found higher levels of extra axial fluid in the brains of infants who went on to later be diagnosed with autism, and even higher levels in those with severe autism symptoms. Extra-axial fluid is also called cerebrospinal fluid, the fluid that holds the brain steady in your head. Other functions of extra-axial fluid and what this means on how it may contribute to autism risk are described in the podcast. He not only explains the findings, but conveys what families should know about them and how they can help with early identification of ASD.
With hundreds of genes, thousands of environmental factors, and now sex being variables in determining risk for autism, where should science start? Over the decades researchers have been able to start narrowing down the combinations based on specific behaviors of interest, genes, and mechanisms which may narrow down which gene, which environmental factor and which sex. Dr. Sara Schaafsma and Dr. Donald Pfaff from Rockefeller University combined the three, and found that epigenetic changes in an autism risk gene called contact in associated protein like 2 contributed to elevation of risk for autism behaviors following maternal infection. In other words, being male and having the mutation produced small changes, increased by the environmental factor. In another separate study, Dr. Keith Dunaway and Dr. Janine LaSalle at UC Davis used brain tissue to look at a rare variant for autism on chromosome 15. Typically, mutations of this area of the genome are thought to cause autism. However, the effects of these mutations are also increased when environmental factors are present, leading to more de novo mutations. These are all examples of scientific breakthroughs that are helping better understand what causes autism. Even when it looks like one thing, it’s multiple things.