What causes autism? Genetics or the Environment? Or maybe both?

Is it genes or is it the environment? or is it a combination? This question has plagued researchers and scientists and caused a lot of confusion in families about what caused their own or their child’s ASD. This week we review the mechanisms by which de-novo mutations could be the work of gene x environment interactions, and share new evidence of how SSRI’s do or don’t contribute to ASD through gene x environment interactions. We also want to recognize the valuable work of scientist Li-Ching Lee to these efforts. Dr. Lee recently passed away but will be sorely missed.

https://pubmed.ncbi.nlm.nih.gov/34002022/

https://pubmed.ncbi.nlm.nih.gov/34116791/

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/

Commonly used drugs that may help autism

Sometimes treatment targets come from the places you wouldn’t expect.  This week, three new studies on the biological and sometimes, behavioral, effects of three commonly used compounds used to treat high cholesterol, edema, and angina were studied in people with autism.  Instead of focusing on just the behavior however, these studies took the approach of examining them from the behavioral side, determining if there was a biological reason why these compounds should be helping people with autism.  This means autism research has turned a corner – it’s not just about behavioral improvements, but about how the drug is working in the brain.  Also, a fun study about social media in people with autism.  They don’t just use it like the rest of us, it actually makes people with autism happy.

Here are the studies included in this week’s podcast:

https://www.ncbi.nlm.nih.gov/pubmed/29485900

https://www.ncbi.nlm.nih.gov/pubmed/29484909

https://www.ncbi.nlm.nih.gov/pubmed/29484149

 

https://www.ncbi.nlm.nih.gov/pubmed/29483603

 

The good, the bad and the ugly about medication use in ASD

This week’s podcast summarizes recent evidence on why there is good and bad in treating autism with medication, but there is also lots of ugly.  While new medications are being developed and researchers are looking into new ways of measuring change across time time, medications are not effective in treating the core symptoms of autism and they have pretty harsh side effects which, you guessed it, are dealt with by prescribing more medications.  There are a lot of reasons to be hopeful about the future of medication use in autism, but lots of reasons to feel frustrated too.

 

Here are some of the articles that were cited:

https://www.ncbi.nlm.nih.gov/pubmed/23101743

https://www.ncbi.nlm.nih.gov/pubmed/25885012

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520775/

 

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.

 

What the Trump presidency could mean for autism families

On early Wednesday morning, the United States woke up to the news that the new president was Donald Trump.  While he hasn’t taken office yet, this podcast reviews his statement on his website or in his Contract with America, as well as thing  published or stated by him or his campaign on his website or in an interview.  The following are covered:  health coverage, Medicaid, mental health services, science and the environment, and education.   The focus is now the proposed changes and policies could affect families with autism.  There is also a special message at the end from David Mandell about how families can deal with the changes ahead.  A transcript of the podcast is available here.

Precision medicine presents: OXYTOCIN!!!

Overall, the scientific research examining the efficacy of oxytocin treatment in autism spectrum disorder has been mixed.  On a previous podcast, studies in the way the oxytocin receptor was turned on and off were explained which may account for variability in treatment response.  This week, two studies in Japan show that specific mutations in the oxytocin receptor product predict who will respond to oxytocin treatment and who will not.  Therefore, the oxytocin story is one of the first examples of using genetic findings to push better treatment on an individual level, otherwise known as precision medicine.

Parents are interventionists too

Parent training has a number of important uses in autism.  For toddlers, parents help provide intervention strategies in a number of settings allowing skills to be generalized.  In adolescence, parents can help implement behavioral rules that can manage non-compliant behaviors, aggressive, disruptive or impulsive behaviors.  This week, research investigated the role of parent training plus and ADHD medication for ADHD symptoms in autism and the results are promising.  Finally, a review of the new NIH funding in understanding the causes of autism is reviewed.  You can also read this review at the ASF blogsite.