Rest in Power Jim Simons

A legend in the autism community passed away on Friday. Today’s podcast focuses on the many talents of Dr. James (Jim) Simons, one of the founders of the Simons Foundation that has spent more than $500 million on autism research. We explain how he made his fortune, how he spent it, the importance of the Simons Foundation to the autism community, and advice from Dr. Simons about how to experience a life well lived.

Autistic Adults Advise and Advance Research

Have you ever heard of an initiative called “Autistic Adults and other Stakeholders Engaged Together”? If you have, you know their goal is to ensure that autistic perspectives are included in future scientific research. They recently published an article that summarized the research that autistic people feel is critical, and what is missing, and what needs to be done. They concluded most of the research done so far is applicable to males without intellectual disability. That needs to change. Speaking of adults, how many adults are autistic? Is it 5 million? Maybe, maybe not, but it is still unclear even after a recent publication. Listen to hear more.

To learn more about AASET click here

https://www.ncbi.nlm.nih.gov/pubmed/32390461

https://link.springer.com/content/pdf/10.1007/s10803-020-04494-4.pdf

Yeah, another study about autistic poop

This week’s podcast includes a summary of the new study, this time in an animal model, looking at microbiome transplantation.  Because this was more of an experimental model, the researchers could be more rigorous in their design and look at things like behavior, brain activity, and specific biological pathways.  While a mouse does not have autism, transplantation of the autism microbiome resulted in autistic-like behaviors.   Second, a hopeful message of the value of participating in research on outcomes – those infants that were tracked prospectively showed improved outcomes later on, suggesting that all of the extra attention they get leads to a reduction in symptoms and an improvement in adaptive behavior.  Even if you do not have a family history of autism – participate in research.  It’s good for your child, and it’s good for other people’s children.

 

https://www.cell.com/cell/fulltext/S0092-8674(19)30502-1 

https://www.ncbi.nlm.nih.gov/pubmed/31032937

 

 

 

 

Can IGF-1 treat autism symptoms? A clinical trial aims to find out

A full transcript of this podcast episode can be read on the ASF blog here.

Researchers at Mount Sinai led by Alex Kolevzon are running a clinical trial of the compound insulin-like growth factor 1 (IGF-1) for children with idiopathic autism. Dr. Kolevzon’s team previously demonstrated the safety and feasibility of IGF-1 in treating Phelan-McDermid syndrome, a single-gene form of autism. Particularly, the IGF-1 treatment improved symptoms of social impairment and repetitive behaviors, which are core symptoms of autism. Expanding their investigation into idiopathic autism, the researchers are working hard to make sure families can comfortably and knowledgeably participate in the clinical trial. Mahir Rahman spoke with Dr. Kolevzon about the study and where it hopes to go. Interested in joining the study? Go here to learn more.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326443/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450831/

What is the microbiome and why should families with ASD care?

This week’s ASF Podcast is a special interview with Dr. Gil Sharon from CalTech, who studies the microbiome in animal models and potential link to ASD.  The microbiome is the full community of bacteria that live in our bodies and outnumber cells 10-1. They can affect the genome directly and they can respond to environmental factors which means they may be a site for important gene x environment interactions in autism.  Some people with ASD, especially those with gastrointestinal problems, show alterations in the microbiome and more and more scientists are starting to incorporate studying this complex system into their research.  Most importantly, new research is suggesting potential for probiotic therapies to not only treat GI symptoms, but also core autism symptoms.  If you like the podcast, Dr. Sharon has provided a list of resources which can provide more detail:

Interventions in mice –

Hsiao, E.Y., McBride, S.W., Hsien, S., Sharon, G., Hyde, E.R., McCue, T., Codelli, J.A., Chow, J., Reisman, S.E., Petrosino, J.F., et al. (2013). Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders. Cell 155, 1451–1463.

Buffington, S.A., Di Prisco, G.V., Auchtung, T.A., Ajami, N.J., Petrosino, J.F., and Costa-Mattioli, M. (2016). Microbial Reconstitution Reverses Maternal Diet-Induced Social and Synaptic Deficits in Offspring. Cell 165, 1762–1775.

Intervention in humans –

Kang, D.-W., Adams, J.B., Gregory, A.C., Borody, T., Chittick, L., Fasano, A., Khoruts, A., Geis, E., Maldonado, J., McDonough-Means, S., et al. (2017). Microbiota Transfer Therapy alters gut ecosystem and improves gastrointestinal and autism symptoms: an open-label study. Microbiome 5, 10.

Microbiome profiling –

Gondalia, S.V., Palombo, E.A., Knowles, S.R., Cox, S.B., Meyer, D., and Austin, D.W. (2012). Molecular characterisation of gastrointestinal microbiota of children with autism (with and without gastrointestinal dysfunction) and their neurotypical siblings. Autism Res. 5, 419–427.

De Angelis, M., Piccolo, M., Vannini, L., Siragusa, S., De Giacomo, A., Serrazzanetti, D.I., Cristofori, F., Guerzoni, M.E., Gobbetti, M., and Francavilla, R. (2013). Fecal microbiota and metabolome of children with autism and pervasive developmental disorder not otherwise specified. PLoS One 8, e76993.

Son, J.S., Zheng, L.J., Rowehl, L.M., Tian, X., Zhang, Y., Zhu, W., Litcher-Kelly, L., Gadow, K.D., Gathungu, G., Robertson, C.E., et al. (2015). Comparison of Fecal Microbiota in Children with Autism Spectrum Disorders and Neurotypical Siblings in the Simons Simplex Collection. PLoS One 10, e0137725.

 

Another gene that causes autism and what families are doing about it

A gene that controls electrical activity in the brain, SCN2A, has been linked to autism for awhile.  But recently, a new study from China shows that mutations of this gene are seen in about 1% of people with autism.  This may put it into the category of the rare mutations that have a major contribution to autism symptoms.   In addition to autism, mutations of these gene are associated with seizures and epilepsy.  Because of the relatively high rates of mutations of this gene in autism and epilepsy, an amazing group of motivated families formed an organization to help support and awareness for this gene mutation.  This week’s podcast includes a message from one of the leaders of this foundation:  FamileSCN2A who are dedicated to help their children with the knowledge about their child’s genetic makeup.

Lessons from the Autism Society meeting

Last week, the Autism Society (www.autism-society.org) held it’s 48th annual meeting in it’s 50th year of existence.  In addition to hearing an update on how people with autism and their families have benefited from autism research over the past decade, participants contributed to panels on experiences of adults, behavioral techniques, technology, the the history of autism.  On this week’s podcast, hear about two of the sessions – how to teach social interaction on the iPad and how to be an effective advocate.