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What is the problem getting to the bottom of biomarkers and gene x environment interactions

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Outcome measures for clinical trials and understanding and determining gene x environment interactions have been two (of many) challenging questions for scientists. In the first study, we explain a new study that looks at the feasibility of three potential biomarkers that have the potential to look at presence of a diagnosis as well as effectiveness of an intervention. In the second half, we describe some new research that shows novel approaches to better understand the presence of an environmental factor with genetic influences, or a new method to describe them in different communities. You can read the studies by clicking below:

https://pubmed.ncbi.nlm.nih.gov/36000217/

https://pubmed.ncbi.nlm.nih.gov/35974006/

https://pubmed.ncbi.nlm.nih.gov/35992618/

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Lumping or splitting ASD with intellectual disability? What’s the difference?

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Separating out those with ASD with an intellectual disability from those with ASD without an intellectual disability can more precisely identify factors that influence probability of having a child with ASD as well as factors which can prevent or preclude services. For example, in those without an intellectual disability, there seems to be stronger heritable component. Mothers and fathers with ASD were more likely to have a child with ASD without an ID compared to those with an ID. Also, children of immigrant parents may be missed and lack essential services if they do not have more profound identifiable symptoms like ID. For the sake of better improving research and services for everyone, is it time to stop lumping and start splitting?

https://pubmed.ncbi.nlm.nih.gov/33103358/

https://pubmed.ncbi.nlm.nih.gov/33049777/

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ASD in the “next generation” of siblings

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Times have changed. Once, parents of a child with autism were concerned about autism in younger siblings. Now those parents are grandparents, and worried about autism in their children’s children. Siblings of autistic adults are considering having children of their own and wondering what they should be prepared for when they have kids of their own. This week, Natasha Marrus from Washington University School of Medicine talks about her new study looking at the increase in probability of ASD in infants who have an aunt or an uncle with ASD. The results are not surprising, but they do have implications for actionable steps.

https://www.sciencedirect.com/science/article/pii/S0006322320313846?via%3Dihub

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Genes, environment and heritability: why does it matter?

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This week a 5 country collaboration including the largest number of people EVER revealed 80% of the causes of autism are heritable. This is incredibly important to understand autism and move forward with research that matters to families.  What it did not do was calculate the role of gene x environment interactions which seems to be the forgotten stepchild of autism research.  This week’s #ASFpodcast explains why it is important to understand the heritability while at the same time study the combined effects of genetic and environmental factors.

https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2737582?guestAccessKey=d82b0145-f179-48bd-91bb-f77865732c3c&utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_content=tfl&utm_term=071719 

 

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An update on females with autism, on the double

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Females with autism are different than males with autism in a lot of ways.  This week, researchers used twins to examine the differences between males and females with autism in their brain structure and how it’s associated with autism traits, not a diagnosis.  To do this, researchers in Sweden turned to twins.  As it turns out, females have more of a diversity of differences in brain changes compared to boys, supporting the female protective effect.  But how to females with autism feel?  As them!  A group in the UK interviewed over 20 women on the spectrum or their parents to find out what concerns them most and what they find most challenging.

Both articles cited this week are open access:

https://link.springer.com/article/10.1007%2Fs10803-019-03906-4     https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373677/

 

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A topic for discussion on President’s Day: violence and victimization

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Happy President’s Day!  This week’s podcast is focuses on a topic that has been on the mind of families affected by autism:  autism and violence and victimization.  The studies reinforce 1) the lack of an association between autism and criminality, 2) the association of an autism diagnosis with being the victim of abuse.  This includes self report data, database analyses and assessment of people who cannot report their abuse.  This sobering podcast was posted today because gun violence is an issue at the forefront of this president’s administration.  While this podcast is not focused on gun violence, hopefully this data will reduce the misconceptions and stereotypes around autism and violence.

 

https://www.ncbi.nlm.nih.gov/pubmed/30655190

https://www.ncbi.nlm.nih.gov/pubmed/28593599

https://www.ncbi.nlm.nih.gov/pubmed/28545754

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From cells to anxiety

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Thanks to brain tissue research, scientists now know how cells in the amygdala form, connect, and how this changes with age.  But does that explain behavioral or neurological features in autism?  Last week, Dr. Inna Fishman from SDSU examined connections in and out of the amygdala in children and adolescents in autism, in a different study but the same age range as when cellular changes in the amygdala are seen.  Strikingly, the brain connections to regions outside the amygdala follow a similar pattern at a similar time, which may explain functioning, autism severity and anxiety in adolescents with autism.   Also this week, while autism is a spectrum, it’s on a spectrum with other neurodevelopmental disorders like ADHD.  Just like in autism, there are individuals who are not diagnosed with ADHD until adulthood.  But these adults show signs of autism as children.  This is similar to autism, where symptoms are there but may not manifest until later in life.

 

https://www.ncbi.nlm.nih.gov/pubmed/30274651

https://www.ncbi.nlm.nih.gov/pubmed/30338854

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Quality vs. Quantity in an autism diagnosis

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In the fight to ensure everyone with autism is detected and diagnosed as early as possible, community providers are sometimes pushed to the limit in what they can do.  They have a huge caseload and there are long waitlists.  So how accurate are autism diagnoses given by these providers with little time and little resources for training?  As it turns out, they are just okay.  Approximately 23% of those diagnosed by community providers were not diagnosed using standardized and validated autism tools.  How can we weigh this potential over and mis-diagnosis with the potential for missing individuals with autism and depriving them of interventions and services?  That’s a topic for another discussion.  However, one question on the cause of autism was addressed and a theory debunked:  autism is not caused by caesarean section deliveries altering the microbiome, and then leading to ASD.  The microbiome may be involved, but not because of method of delivery and use of antibiotic medications.

https://www.ncbi.nlm.nih.gov/pubmed/30270970

https://www.ncbi.nlm.nih.gov/pubmed/30273187

 

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Let’s talk about sex (and sexuality)

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While certainly not a new topic of interest, the number of research studies and publications on the sexuality of people with autism has exploded in the past year.  Research shows more people with autism reporting they don’t conform to traditional sexual definitions.   In addition to having to navigate the world of having autism, they also have to figure out how to deal with exclusion based on sexual orientation and coming out.  They are a double disadvantaged community.   Also, females with autism seem to be at particular risk of poor sexual experiences.  This podcast reviews the research all leading to a reported need for better sexual education, and a promising intervention to help people with ASD.  Publications cited are:

 

https://www.ncbi.nlm.nih.gov/pubmed/29086210

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570786/

https://www.ncbi.nlm.nih.gov/pubmed/27565655

https://www.ncbi.nlm.nih.gov/pubmed/28877047

https://www.ncbi.nlm.nih.gov/pubmed/28342163

https://www.ncbi.nlm.nih.gov/pubmed/28299510

https://www.ncbi.nlm.nih.gov/pubmed/28691307

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The importance if IQ in an autism outcome.

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Cognitive ability, measured by intellectual quotient or IQ, has been thought to predict response to intervention, social abilities, adaptive behavior and long term outcome.  Numerous studies have shown that it can influence what is labeled as a good outcome.  However, two studies this week point out how those across the spectrum in cognitive ability still benefit from early intervention and make friends on the playground.  In both studies, there were factors that were more important for outcome than IQ.  So it may be an important factor in outcome, but not the only factor.