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This week, special podcast correspondent #MiaKotikovski summarizes new research on the increasing prevalence of autism, with a focus on females. While the number of diagnosed females is increasing faster than the number for males, females assigned at birth still are less likely to receive a diagnosis than males. Additional evidence points to females having more genetic mutations and lower cognitive ability, so the questions remain: Are there females with autism who are just not getting diagnosed despite having all the autism features? Why not? Does autism in females “look” the same as autism in males? What sets them apart? These articles are all featured in the year-end highlight of research, so this is the time to get a deep explanation of the latest in sex differences in #autism.
https://pubmed.ncbi.nlm.nih.gov/34563942
https://pubmed.ncbi.nlm.nih.gov/39334436
https://pubmed.ncbi.nlm.nih.gov/33966484
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Just three days before 2024, ASF provides a summary of the the highlights of scientific discoveries and how they have translated into tools families can use. They include ways to speed up diagnosis and reduce waitlists, study of the brains in females and clinical recommendations for helping autistic females at birth, evidence of better practices around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.
You can read the text here: https://autismsciencefoundation.org/2023-year-end-review/
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It’s estimated that anywhere from 10%-30% of females on the spectrum also suffer from an eating disorder, and that autistic traits are high (even without a diagnosis of ASD) in those with eating disorders. There is clearly crossover in the underlying biology somehow, but while that is being determined – help for those with ASD and eating disorders is not waiting. There are many obstacles for autistic women to receive help for their eating disorders, and this podcast outlines the overlap between ASD and ED, and describes what could help women on the spectrum who experience eating disorders.
https://pubmed.ncbi.nlm.nih.gov/33653157/
https://pubmed.ncbi.nlm.nih.gov/34193255/
https://pubmed.ncbi.nlm.nih.gov/34264484/
https://pubmed.ncbi.nlm.nih.gov/33588579/
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Oxytocin treatment for social communication in ASD has been recntlyused by doctors, but mostly used by people using it on their own through a nasal spray. Unfortunately, it doesn’t have a huge, if any, effect in randomized clinical trials. This week’s podcast investigates current research in both the oxytocin and vasopressin system in ASD, when changes start, and how oxytocin administration has different effects in autistic women vs. neurotypical women. Once again, clinicians can not assume that what works in people without ASD will work in those with a diagnosis.
https://www.ncbi.nlm.nih.gov/pubmed/32341146
https://www.ncbi.nlm.nih.gov/pubmed/32188502
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A series of three scientific articles explore the link between the onset of psychiatric symptoms in adolescence in people with Phelan McDermid Syndrome, or PMS. PMS is caused by a mutation in the SHANK3 gene, leading to a wide range of medical, behavioral and intellectual challenges, as well as autism spectrum disorder. Scientists used a broad literature review as well as the PMS patient registry to better describe what was going on, and a group at Duke compiled a case series of girls affected that were responsive to treatment. While so far this decompensation as a result of onset of psychiatric illness has only been documented in PMS, families across the spectrum should be aware so they can seek immediate help for their child if they see similar symptoms.
https://www.ncbi.nlm.nih.gov/pubmed/32050889
https://www.ncbi.nlm.nih.gov/pubmed/31879555
https://www.ncbi.nlm.nih.gov/pubmed/32015180
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What more appropriate podcast to end 2019 with than the summary of advances of scientific research of autism spectrum disorders? The SAB of ASF and the CSO categorized the highlights in science into 8 categories which are outlined in this 30 minute podcast. You can also read them on the ASF website here. Thank you for listening to the ASF Weekly Science Podcast in 2019, and talk to you in 2020!
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This week’s podcast focuses on the Extreme Male Brain Theory of autism, originating from the idea that autism, in part, is a reflection of increased fetal testosterone levels. Amazingly, fetal testosterone levels are reflected in the length of the 2nd and 4th fingers and can be measured as a reflection of testosterone levels during pregnancy. Research, including those from a recent CDC study, have reinforced that elevated fetal testosterone levels play a role in autism in males, but not females. Differences in fetal testosterone across gender and diagnosis has also been observed in a study from Drexel University. What was observed in males is not observed in females. It doesn’t mean the theory is wrong, it means that what is true for one sex is not always true for the other.
https://www.ncbi.nlm.nih.gov/pubmed/29450837
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In 40 minutes, ASF summarizes the highlights in autism research from before diagnosis through adulthood. It includes new intervention studies, ways to better diagnose ASD, to understand symptoms, females, sexuality, employment, neurobiology, genetics, and gene x environment interactions. The major themes are the “H” word, or heterogeneity in symptoms across the spectrum, ways to make the broad spectrum smaller, and how big data approaches are helping make this happen. Thank you to families who participated in research and tireless autism researchers for lending their skills to answer the tough questions. And of course, thank you all for listening to these podcasts all year long. The transcript with all the references used will be posted on the ASF blog in the upcoming days.
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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:
http://journals.sagepub.com/eprint/V5p3isSVAKDbdQf2jH4Q/full
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.
https://www.nature.com/articles/srep46179
I discuss this second project with Jill Escher, founder of the Escher Fund for Autism and co-funder of the study.
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Hear what you missed if you were unable to attend the Seaver Autism Conference on September 25th! Dr. David Skuse discusses “where are all the girls with autism”, summarizing evidence that some girls with high verbal IQ and autism might be missed, suggesting genes associated with high IQ may be protective against a diagnosis until adolescence. Also, ASF grantee Dr. Jennifer Foss-Feig describes how biomarkers can be used to improve personalized medicine. Finally, a summary and review of the new air pollution systematic review and meta analysis. Limited evidence does not equal none, and air pollution is a real problem. Here is a link to the paper: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161851. All in 12 minutes.
