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In support of AFAB

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A recent publication in the Lancet was dedicated to clinical recommendations to support autistic females at birth. Because more males than females are diagnosed with autism, their needs are often misunderstood, misinterpreted, or just ignored. Researchers, clinicians, scientists, parents and self-advocates from around the world joined together to identify those needs and propose solutions that can be implemented in everyday care. To read the article in it’s entirety, click here: https://authors.elsevier.com/c/1i5LV8Mut2Mzvb

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Waitlists for waitlists

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Everyone who has looked for support for autism spectrum disorder is familiar with waitlists. Waitlists for evaluation, diagnosis, intervention, consultations and referrals. These waitlists prevent important opportunities for services and many groups developing technologies, policies, and approaches to reduce the waitlists or work around them. On this week’s podcast, we talk to Dr. Sharief Taraman from Cognoa to hear about their recent study on the scope of the problem on waitlists, what causes them, and how digital therapeutics may help them.

Waitlist Crisis Report
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Nobody ever talks about catatonia

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Nobody ever talks about catatonia in autism. This podcast explores the symptoms of catatonia, how to measure it, what parents should know about tracking the symptoms, what the treatments are, and what the causes are. Dr. Martine Lamy from Cincinnati Children’s Hospital explains her work looking at genetic causes in those with catatonia and neurodevelopmental disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.

https://pubmed.ncbi.nlm.nih.gov/37864080/

https://pubmed.ncbi.nlm.nih.gov/37642312/

https://pubmed.ncbi.nlm.nih.gov/36708735/

https://globalgenes.org/rare-disease-patient-services/

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Contemplating “syndromic autism”

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The words “syndromic autism” have been used to describe individuals with autism who also have a rare genetic mutation. Is it time to change those words to something else? Scientists and clinicians Drs. Jacob Vorstman and Steve Scherer from the University of Toronto share recent data in understanding autism, the role of genetic testing in autism in predicting and treating other conditions that someone with autism may have, and why the words “syndromic autism” may need to be updated to describe a subgroup of autism.

https://pubmed.ncbi.nlm.nih.gov/37330697/

Below is the Figure 1 that Dr. Scherer refers to:

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Little Brains Answer Big Questions

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This week we talk to Sergiu Pasca from Stanford University. He has revolutionized the field of understanding the field of brain development in neurodevelopmental disorders and just published a new study which examined the genetic influence of brain assembly. The way he does this is quite remarkable. His lab uses assembloids, which are many many many stem cells which form into a tiny brain. He explains what an interneuron is, why it is important for brain function, and how genetics can influence how these neurons work. This way the development of the brain from the first cell can be tracked and even manipulated to understand what happens in autism, and what therapies might be the most helpful to target these interneurons. Thank you Dr. Pasca.

Open access! https://pubmed.ncbi.nlm.nih.gov/37758944/

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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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All who wander are not lost. But many are lost and need help.

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In recognition of September 26th, this podcast explores one of the more dangerous issues in autism: wandering. But it’s really not wandering in the traditional sense. Wandering in autism mostly means running off, bolting, deliberately with intent and without permission. Obviously this leads to some very dangerous situations for people on the spectrum. How can it be mitigated or understood? Some behavioral therapies are helpful, but new technologies have allowed for more options to bring back loved ones that have run off unexpectedly. Finally, the community needs to be better aware of possible stressors or triggers that trigger a wandering episode and work together with families to prevent running off. This problem is not caused by one thing, and the community needs multiple solutions to keep kids and adults safe.

www.september26.org

https://pubmed.ncbi.nlm.nih.gov/37492814/

https://pubmed.ncbi.nlm.nih.gov/32576789/

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Support for Siblings during COVID

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Everyone needed support during the pandemic, but families affected by autismneeded special support. This included siblings. Researchers at Massachusetts General Hospital tried out an intervention around stress and anxiety reduction in siblings in 2020. Not only was it liked, it worked. It didn’t completely eliminate stress and anxiety, nothing would, but it did help siblings manage a little better. Can it work outside the pandemic? There are certainly other situations where siblings could use a little more support.

https://pubmed.ncbi.nlm.nih.gov/36460184/

https://link.springer.com/article/10.1007/s10803-022-05500-7

https://onlinelibrary.wiley.com/doi/10.1002/aur.2987

https://onlinelibrary.wiley.com/doi/10.1002/aur.2987#aur2987-bib-0032

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Tik-Tok for autism information? Nope

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In a highly discussed paper, researchers from Drexel University report their findings on a scientific and methodologically rigorous study on the accuracy of information posted on the social media platform Tik-Tok. They also discuss where the information comes from and how it is viewed. The accurate and inaccurate posts get “liked” equally, meaning they are taken just as seriously. There are billions of inaccurate posts being viewed, and misinformation spread. On this week’s podcast, all four authors of this paper summarize what they found and what families should know.

https://pubmed.ncbi.nlm.nih.gov/37544970/