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Recurrence rates for families with an ASD child

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What is the probability of having a future child with autism if you already have one or more? Families want to know. It helps preparation, planning, will hopefully improve early screening and supports. The Baby Siblings Research Consortium analyzed a bigger group of siblings compared to their 2011 numbers and found the recurrence pretty stable – 1 in 5 siblings will have an autism diagnosis compared to 1 in 36 in the general population. However, this number depends on a lot of things: Sex of infant, sex of sibling with an existing ASD diagnosis, number of autistic children in the family, race and socioeconomic status. Listen this week to hear all the numbers.

https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2023-065297/197777/Familial-Recurrence-of-Autism-Updates-From-the?autologincheck=redirected

https://pubmed.ncbi.nlm.nih.gov/38973707

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Resilience and heterogeneity in ASD

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Everyone knows that every person with autism has their own unique strengths and challenges. Autism is heritable, and there are over 100 genes associated with autism. There are also an unknown number of environmental factors influencing outcome, so the heterogeneity is not necessarily surprising. But why would two people with the same genetic mutation have variable outcomes? Researchers led by the Institut Pasteur in France looked at the range of outcomes in people with a rare genetic mutation associated with autism, focusing on those without an autism diagnosis. This week’s podcast is an interview with the lead author of the paper, Thomas Rolland, PhD from France. The presence of the variants in those without ASD were associated with lowered cognitive ability, education level and employment status. The bottom line of these finds are that genes affect proteins which form the brain and control brain function. However, there are multiple factors that influence outcome. Some of them may be sex or gender, prenatal exposures. It’s not just one thing, there are many things influencing an autism diagnosis.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353945/pdf/41591_2023_Article_2408.pdf

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Ribbit…Ribbit… frogs are the new mouse of ASD research

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You’ve heard a lot about CRISPR technology to manipulate gene expression. But what have scientists actually learned? Well, the cells in which DNA is manipulated could come from different animal models, including frogs and mice. These model systems are used to track brain development, sex differences, and the downstream effects of convergence of genetic manipulations of autism relevant genes on brain cells. They can be used, as one study demonstrated, to examine protective or resilience factors in the brain. This week we talk to Helen Willsey, PhD, at UCSF to hear about her research about manipulating genes in frog eggs and what it says about the female protective effect.

https://pubmed.ncbi.nlm.nih.gov/33497602/

https://pubmed.ncbi.nlm.nih.gov/33243861/

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Age of parents and ASD. It’s complicated.

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Questions have loomed around the finding of an increased risk of parents having a child with ASD if they are under 20 or over 35. Of course not every parent who is really young or older will have a child on the spectrum and plenty of those between those ages also have children on the spectrum. Risk factors for ASD are not absolute, they are nuanced and work with other genetic and environmental factors. This week, Kristin Lyall from the AJ Drexel Autism Institute found that those with a strong genetic influence were not as sensitive to factors like parental age. This goes to show, yet again, that it isn’t about ONE risk factor, it’s about dozens working together. And for those 30 year old parents who had a child with autism – see, not every research finding applies to you directly.

https://www.ncbi.nlm.nih.gov/pubmed/32314879

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521130/

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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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DSM5 – where are we now?

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Don’t be fooled, not all the studies on this week’s podcast focus on the DSM5.  But the first one, a review of a meta analysis and review of the dozens of publications that have emerged in the past 5 years around the DSM5 leads us off.  There are some people that weren’t captured by either DSM5 or Social Communication Disorder that need a diagnosis, and that should be the focus of future research.  A new topic of diagnosis is also explored by a large collaboration is addressed:  diagnosis in cousins.  They do show a higher probability of an autism diagnosis, but not as high as first degree siblings.  Finally, a new tool called JAKE in monitoring  treatment effectiveness is presented.  This could be used not just in the clinic but at home.  It includes monitoring of biological and behavioral features, and might be the next big thing in outcomes for treatment studies.

 

https://www.ncbi.nlm.nih.gov/pubmed/30852784

https://www.ncbi.nlm.nih.gov/pubmed/30851399

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402449/

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The more you know…….about infertility and interpregnancy interval

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This week, two studies from the large CDC funded study called the Study to Explore Early Development were published that examines probability of having a child with autism after infertility treatments (first paper) and long or short times between pregnancies (second paper).  These studies put to rest some of the questions moms have been interested in.  First, it’s infertility not infertility treatments that is linked to autism, and second, spacing pregnancies too close together or too far apart is also associated with an increased probability of having a child with severe autism symptoms.  This podcast explains what the studies mean and what parents should know.  The references are here:

 

https://www.ncbi.nlm.nih.gov/pubmed/29164825

https://www.ncbi.nlm.nih.gov/pubmed/28900768

 

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The Final Word on Antidepressants and Autism Risk???

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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.

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The Benefits of Being and Older Father

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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.

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Memorial Day Memoriam: Isabelle Rapin

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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.