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Happy Birthday Simons Searchlight!

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In an effort to better understand the causes of autism in those with a known genetic variant associated with ASD or other developmental disorders, in 2010, the Simons Foundation launched Simons VIP, now known as  Simons Searchlight – an online international research program studying nearly 200 rare genetic neurodevelopmental disorders and working with over 60 patient advocacy groups across these conditions. 

Since its inception, it has grown to not just study specific genes, but to provide de-identified aggregate data to researchers & industry, support for patient advocacy groups to bring together families & researchers (thanks to the generosity of the Simons Foundation), identify even more genes associated with autism, and create international communities. 

These communities share similar underlying mechanisms even though there are sixty genes represented within Simons Searchlight. This week is a conversation with the principal investigator of Simons Searchlight, Dr. Wendy Chung, talks about why genes associated with autism and other neurodevelopmental disorders are so important to study, what the scientific community has learned, and how Patient Advocacy Groups have grown and flourished as a result of this understanding.

If you are having problems accessing a genetic test, here are some tips

Genetic Testing
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This one’s for the girls

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This week, Drs. Casey Burrows from @UMN and Shuting Zheng from @UTexas discuss a new paper looking at sex differences in autism features from 20-40 months of age. A new analysis done with data from the Baby Siblings Research Consortium concludes that, early in life, girls with autism show differences in some autism features (like joint attention) compared to boys. There are many reasons for this, including that boys and girls are just different, period. However, it adds to mounting data which may help explain why more males are diagnosed compared to females. More research needs to examine how girls and females present, what symptoms are harder to observe in females andy why, and most importantly, sheds insight how girls and females with autism need to be specifically supported. More here:

https://www.epicresearch.org/articles/diagnosis-of-autism-occurring-earlier-in-children-though-still-late-for-many-initial-diagnosis-in-adulthood-increasing-in-women

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2837366

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How does autism prediction work?

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This podcast provides updates on studies that help with prediction of an autism diagnosis – which is important for preparing for the future and for intervening early. First, a study that uses environmental factors to create an equation for the probability of a diagnosis following a combination of of non-genetic factors only which does a fairly good, but not perfect, job at predicting a diagnosis. Second, a study that looks at the accuracy of a machine that predicts autism from eye gaze as early as 9 months of age and with only a 2 minute test. This one wasn’t as accurate as the one that takes longer and tests older kids, but it’s a first step. No ONE thing does a perfect job at predicting a diagnosis – it’s going to be a combination of things, tested over time and multiple times that will be most helpful at predicting a diagnosis. Both studies are open access!

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10904522/pdf/fpsyt-15-1291356.pdf

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38429348/

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Learn about your infant’s development from your own home

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Are you the parent of an infant? Are you wondering how you can get assessments on your child without having to struggle with your pediatrician’s time at a well- baby checkup? Are you interested in how your baby is thinking or communicating but your doctor says “it’s too early to tell?” A new study based out of Duke University is using remote computer based assessments to understand the very earliest markers of language and cognition to better predict later social development. The twist? It’s all done remotely. You can participate in research, get a gift card, and learn about your baby’s development all without leaving the house. This has been a struggle for many families and this may open the door for more video-based, but thorough, assessments.

Children Helping Science

sites.duke.edu/risebattery

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Parents! Parents! Parents!

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Parents are now used as intervention partners through a design called parent-mediated intervention. It started to be studied before the pandemic but has now become a necessity. Does it work? Should it always work for everything? How long should the intervention last and how often? These are all questions of interest, and while research is still early, parents can be amazing partners in intervention especially below age 5. The provide opportunities for learning and communication, and they can utilize more hours during the day at home than traditional in-clinic services can. Of course not every family is the same and may not have the same abilities to learn the intervention, and in the future more of these contextual factors need to be studied. But for now, three cheers for parents helping their kids!

https://pubmed.ncbi.nlm.nih.gov/34867556/

https://pubmed.ncbi.nlm.nih.gov/35037520/

https://pubmed.ncbi.nlm.nih.gov/35040001/

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Who cares about eye gaze?

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Early changes in eye gaze – or the time spent looking at another person’s face compared to the scene around them – is diminished in ASD. It starts to decline at about 12 months and is linked to later social communication behaviors. But many people wonder why this is an early developing behavior worth studying? Also, what happens in school age to kids that show poor eye gaze and infancy, and those who are on the “broader spectrum” but not a diagnosis in infancy – how do they fare at school age? Devon Gangi from UC Davis MIND Institute talks to us about both of these things and why baby siblings are so important

https://pubmed.ncbi.nlm.nih.gov/33615438/

https://pubmed.ncbi.nlm.nih.gov/34008921/

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Violent criminal behavior, screen time, and inter pregnancy interval – not all related to each other but all relevant to ASD

Many media reports have linked autism to violent criminal behavior, but statistically, autistic people are more likely to be the victims but not the perpetrators of violence. So what ELSE is going on in those with ASD who have committed a violent crime? A study in The Netherlands delves into this by collecting information on violent criminals with an ASD diagnosis. Also, families are always concerned about the time their kids spend on their screens, and COVID caused even more screen time – think about all the time spent in online school. But is it harmful? Are there benefits? And does it depend on the type of screen time? Listen to this week’s podcast to find out.

https://pubmed.ncbi.nlm.nih.gov/34500347/

https://pubmed.ncbi.nlm.nih.gov/34483995/

https://pubmed.ncbi.nlm.nih.gov/34423916/

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Get some zzzzzz’s

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Sleep is a huge problem in ASD. But is it just “sleep” or can we get more specific? What role do genetics have? And does being autistic make sleep problems worse? Answers come from an unlikely source: mice! Learn more about recent scientific evidence tying sleep problems to ASDs and neurodevelopmental disorders. These include: type of sleep problems autistic people face, why they exist, where they come from, and how mouse models can help solve them.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639428/

https://www.frontiersin.org/articles/10.3389/fpsyt.2020.559694/full

https://pubmed.ncbi.nlm.nih.gov/30737588/

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-021-00426-w

https://pubmed.ncbi.nlm.nih.gov/33549123/

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62086

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Parents describe the “best things” about their kids with ASD

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Parents may see challenges in their kids with ASD, but they also know what is great about them and the unique gifts they bring to the world. Now, researchers from Canada have inventoried and categorized these list of great qualities in a large study of children from 3-10 years of age. These “best things” identified and counted across ages should also be used when planning how to transition kids with ASD from EI or preschool into kindergarten. Another study included this week from Curtin University in Australia describes how parents see this process becoming a lot easier.

https://pubmed.ncbi.nlm.nih.gov/33532881/

https://pubmed.ncbi.nlm.nih.gov/33520781/

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Pandemic Problems? ASD Researchers are Listening

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You have spoken, and scientists have listened, to surveys that have asked how you are doing, what your family needs, what is working and what has not worked. Telehealth gets mixed reviews, and kids are suffering from everything from anxiety to OCD. Other results of these surveys are covered in this week’s ASF podcast. Please continue to answer these requests for feedback, because the future of autism interventions, assessments and services depends on them.

https://pubmed.ncbi.nlm.nih.gov/32515992/

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

https://pubmed.ncbi.nlm.nih.gov/32445682/