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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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Why developmental milestones are so telling

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Thanks to Dr. Susan Kuo at Broad Research Institute and MIT, there is an analysis of 17,000 individuals with autism across 4 different studies that all looked at how developmental milestones emerged. The results show a great deal of diversity – across different studies, time, intellectual disability and genetic background. Different groups of people with autism have different experiences based on some commonalities. But all people with autism showed a delay in many milestones. They are important for understanding people with autism, changes across time in the diagnostic criteria, and their impact on later abilities.

https://jamanetwork.com/journals/jamapediatrics/article-abstract/2794306?utm_campaign=articlePDF&utm_medium=articlePDFlink&utm_source=articlePDF&utm_content=jamapediatrics.2022.2423

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Autism means different things to different people

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At this year’s International Society of Autism Research meeting in Austin, TX, there was a variety of themes explored. From early development and milestones, to intervention and supports, to different features like sensory issues, treatment, and how to solve the problem of heterogeneity. It comes down to this: Autism means different things to different people. This is just a small subset of everything that was presented at #INSAR2022 and I hope that if you want to see more, you advocate to have the presentations posted online or even have the program book made available publicly. In the meantime, enjoy the 30 minute summary.

www.autism-insar.org

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Four problems and a solution: Is there a way to solve the heterogeneity problem in research?

While a diagnosis of autism spectrum disorder may encompass many strengths, challenges, features and conditions, it is becoming increasingly difficult for researchers to figure out what is autism, and how to help those on the full spectrum. This week’s ASF podcast summarizes the challenges and a possible solution to grouping people according to their behavioral features. However, not everyone agrees with this approach. What do you think? How can researchers best help people across the spectrum recognizing the unique needs of those with different symptoms? Share your thoughts in the comments.

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2494

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2529

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2547

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A genetic first approach to subtypes?

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What causes some of the differences across people with autism? Can you predict who will have what features of autism by looking first at genetics? This week’s ASFpodcast is the first 20 minutes of a webinar with Samuel Chawner from Cardiff University that explains his findings about behavioral features across people with autism with difference in genetic makeup. The full webinar with video can be found here but you can listen to the presentation this week. There will also be more research on this topic.

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What is the point of genetic testing?

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If only 10% of people with ASD have a known genetic mutation associated with autism, what is the point? Why bother? This week we discuss why it is important for that 10%, what the benefits are, and how genetic testing may help the other 90% as well.

https://www.sciencedirect.com/science/article/pii/S0002929720301130

https://pediatrics.aappublications.org/content/146/4/e20193211

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869000/

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How you doin’?

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We are now about 8 months into the pandemic and the effects of social distancing. How are families doing? What are scientists doing to understand the effects and ways to help families in the future? This podcast describes four international studies that addressed what families were experiencing and how they were coping. A list of references is below:

https://www.mdpi.com/2077-0383/9/9/2937/htm

https://pubmed.ncbi.nlm.nih.gov/32899799/

https://pubmed.ncbi.nlm.nih.gov/32503172/

https://pubmed.ncbi.nlm.nih.gov/32808424/

https://pubmed.ncbi.nlm.nih.gov/32939917/