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Factors That Influence Heterogeity and How

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Understanding factors that make each person with autism different has been a challenge, affecting diagnosis, interventions and the way we think about autism in general. Researchers at Istituto Italiano di Tecnologia, Rovereto, Italy, used computers to see how language, intellectual ability, motor and adaptive functioning grouped individuals into different categories. It turns out there are two groups – one group that improves over time and outperforms the other group consistently even in early life. The other group continues to struggle. These factors are not autism-specific, but do influence the creation of these different groups that are different biologically as well as behaviorally. This week’s podcast is an interview with the researchers on what it means for the future of understanding what might help what person at what time in their life.

The publication is open access and includes the model so their findings can be replicated widely: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-024-00613-5

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What doesn’t kill you makes you stronger

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This week’s podcast explores new evidence that exercise produces longer term improvements in coordination and motor skills. Parents can play a big role in how these skills are developed over time. Physical exercise also has different effects on the brain in typically developing people than those with a diagnosis.

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2969

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2977

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Mirror mirror on the wall, what is the fairest early predictor of adult language ability?

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Scientists study motor skills in early development not just because it is one of the first features to emerge, but because it is predictive of later social communication development, and as it turns out, later expressive language development.   A new study combining data from 2 countries shows that early motor deficits predict language abilities all the way up to age 19, so focusing on early motor skills is imperative for early intervention.  Also this week – a review on why those tiny details in genetics of ASD can be so helpful for people across the spectrum and families.

https://www.ncbi.nlm.nih.gov/pubmed/31429087

https://www.ncbi.nlm.nih.gov/pubmed/31491383

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Guys, we all need exercise

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People with autism are less likely to be physically active and more likely to be sedentary.    A number of studies have looked into different physical activities, both group based and individually, on improvements in health as well as core features of autism, and most have had positive results.  New animal model research demonstrates a benefit of exercise using the maternal immune activation model of ASD, pruning back the excess of connections and cell fibers.  As people with autism also have too many connections in the brain, this may have a direct therapeutic benefit.  But besides all the scientific conjecture, we all need more exercise, physical activity interventions seem to only help, not hurt, people across the spectrum, and should be used to complement, not replace existing therapies.

 

 

https://www.ncbi.nlm.nih.gov/pubmed/29693781

 

https://www.ncbi.nlm.nih.gov/pubmed/31102193

 

https://link.springer.com/article/10.1007%2Fs10803-019-04050-9

 

https://www.cell.com/cell-reports/retrieve/pii/S2211124719306266?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2211124719306266%3Fshowall%3Dtrue

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Infant motor issues and later autism diagnosis

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Everyone knows the way to study infants with autism is through thorough testing of younger siblings of those with a diagnosis, who have a 15x greater chance of have a diagnosis themselves.   Through these methods, new ways of identifying and predicting autism  later on have been developed.  On this week’s podcast:   two very influential and recent papers on the study of motor issues in 6 month olds who go on to be diagnosed with autism, and those  who don’t have an autism diagnosis but have signs and symptoms of ASD.  Are motor issues related to an ASD diagnosis or ASD symptoms?  And what about core symptoms of autism like language?   Can early motor behaviors be used to predict who goes on to receive an autism diagnosis or has language problems?  What should parents do?  How should this influence an early intervention plan?  Learn more this week!

 

https://www.ncbi.nlm.nih.gov/pubmed/30628809

https://www.ncbi.nlm.nih.gov/pubmed/30557704

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Chromosome 15-apallooza

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One of areas of genetic interest of autism is a region of chromosome 15.  Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism.  It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance.  I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment.  Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.