Parents are people too

Sometimes parents get a bad rap for not having autism themselves, or not being in touch with the challenges of autistic adults.  This week’s ASF Podcast highlights two new studies on the role parents play in science, research and understanding racial disparities.  A group in the United Kingdom released the results of a survey across Europe which examined parent perceptions on early autism research (think infants and toddlers) and how researchers could better help families at this stage.  Another study from researchers in Georgia and Connecticut revealed how important parents (and clinicians) can be in reducing the disparity in diagnosis between black and white children in the US.  Finally, a call to unite over a common challenge: employment.  If you have not done so already, please make your voice heard as a parent, autistic adult, employer or service provider on a survey gauging the needs of the entire autism community around employment.  http://www.lernerlab.com/employmentsurvey.html 

 

Here are the references used in this podcast:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230972/ 

https://www.autismspeaks.org/sites/default/files/docs/as_science_planning_survey_final_pdf_0.pdf

https://www.ncbi.nlm.nih.gov/pubmed/29126359

https://www.ncbi.nlm.nih.gov/pubmed/29100475

 

Let’s talk about sex (and sexuality)

While certainly not a new topic of interest, the number of research studies and publications on the sexuality of people with autism has exploded in the past year.  Research shows more people with autism reporting they don’t conform to traditional sexual definitions.   In addition to having to navigate the world of having autism, they also have to figure out how to deal with exclusion based on sexual orientation and coming out.  They are a double disadvantaged community.   Also, females with autism seem to be at particular risk of poor sexual experiences.  This podcast reviews the research all leading to a reported need for better sexual education, and a promising intervention to help people with ASD.  Publications cited are:

 

https://www.ncbi.nlm.nih.gov/pubmed/29086210

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570786/

https://www.ncbi.nlm.nih.gov/pubmed/27565655

https://www.ncbi.nlm.nih.gov/pubmed/28877047

https://www.ncbi.nlm.nih.gov/pubmed/28342163

https://www.ncbi.nlm.nih.gov/pubmed/28299510

https://www.ncbi.nlm.nih.gov/pubmed/28691307

Genes: the beginnings of autism treatment targets

This week’s podcast focuses on two studies that help illustrate why studying individuals with a specific genetic mutation, or animal models with a particular genetic mutation, are so important.  MSSM researchers focused on individuals with FOXP1 Syndrome, which has a high rate of autism and could be the focus of future treatments.  In the meantime, researchers at UTSW, led by ASF fellow Christine Ochoa Escamilla, identified a particular brain chemical responsible for changes in brain activity following mutations of chromosome 16.  About 1% of people with autism have mutations in this chromosome.  Application of a chemical to counteract this chemical then led to improvements in brain activity, opening up the door to new drug targets that affect some of the more severely affected individuals with ASD.

 

Here are the references:  https://www.ncbi.nlm.nih.gov/pubmed/29088697

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-017-0172-6

The IACC has some ideas on how to spend money for research, and here they are

This week the Interagency Autism Coordinating Committee or IACC, finalized next year’s strategic plan on autism research.  This podcast explains what the IACC does, who serves on it, and also, what ideas they have for maximizing use of the research dollar for ASD.  It’s a long document and every taxpayer in the US does contribute money towards autism research, so it’s worthwhile to hear what the US government, researchers, stakeholders, service providers and individuals with autism thinks should happen to that money.  If you want to read the whole, thing, go for it.  You can download it here.

Pregnant and concerned about autism? Folic acid can help.

This week a bunch of new studies came out that focused on changes in probability of having a child with autism after folic acid consumption during pregnancy.  Moderate consumption folic acid and slightly elevated levels of plasma folate during pregnancy has now been shown in at least half a dozen scientific studies to reduce the chance of that child to be later diagnosed with autism.  This is not a prevention effect, but a reduction in probability.   There are enough studies on this question for a Chinese group to have organized them, put their data together, reanalyze them together and conclude that this is a real thing.  If this was an effect seen after say, drinking battery acid, maybe it might require more consideration to recommend to the community.  However, taking folic acid during pregnancy is something medical doctors are recommending pregnant women do anyway.

Want to learn more?  Here are the studies:

Swedish Study:  https://www.ncbi.nlm.nih.gov/pubmed/28978695

http://onlinelibrary.wiley.com/doi/10.1111/ppe.12414/epdf

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625821/pdf/13229_2017_Article_170.pdf

Denmark Study:  https://www.ncbi.nlm.nih.gov/pubmed/28946926

 

Your taxpayer dollars at work in the Autism Centers for Excellence Awards

About two weeks ago, the National Institute of Health announced part of the government’s commitment to autism research through the ACE projects, or Autism Centers for Excellence.  Highly competitive and intensely scrutinized, these 5 year projects all investigates areas of autism aimed at helping people with ASD and their families.  This week’s podcast summaries them, discusses how they interact and complement each other, and explains how they are going to affect the lives of people with autism.

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/

 

More on that Korea Daily mess. Plus early detection of ASD does improve outcomes.

This podcast was going to be dedicated to new early detection research which shows what the USPSTF has been looking for – the link between early detection, early intervention, and improved outcomes in a community setting.  Those findings are still included this week, but there is a slight diversion in theme.  The podcast will also include  an explanation of the immune/microbiome study published in Nature and misrepresented  by Korea Daily.  The study is important, however, the media sensationalized the findings and did the research no favors by labeling it a “major cause”.   Learn what the study did and what it actually discovered in this week’s podcast.

 

Here are the references of the studies mentioned in the podcast:

https://www.ncbi.nlm.nih.gov/pubmed/28902840

https://www.ncbi.nlm.nih.gov/pubmed/28905160

https://www.ncbi.nlm.nih.gov/pubmed/27474118

 

 

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.

 

This type of autism is not like the other – and here is data to show it

Identifying subtypes for autism and narrowing down the heterogeneity of symptoms has been considered the holy grail of autism research.  If one person with autism is not like another person with autism, can they at least be put into groups to speed up studies into causes, intervention and services?  And how?  This podcast explains two different studies that used the same statistical method but different children with autism to identify different groups.  One of the things that helped define these groups was verbal ability and IQ.  For the first time, comorbid symptoms like medical issues and psychiatric diagnoses  are being taken into account.  Already, this approach is helping scientists better understand why fever improves symptoms in some people with autism.