The more you know…….about infertility and interpregnancy interval

This week, two studies from the large CDC funded study called the Study to Explore Early Development were published that examines probability of having a child with autism after infertility treatments (first paper) and long or short times between pregnancies (second paper).  These studies put to rest some of the questions moms have been interested in.  First, it’s infertility not infertility treatments that is linked to autism, and second, spacing pregnancies too close together or too far apart is also associated with an increased probability of having a child with severe autism symptoms.  This podcast explains what the studies mean and what parents should know.  The references are here:

 

https://www.ncbi.nlm.nih.gov/pubmed/29164825

https://www.ncbi.nlm.nih.gov/pubmed/28900768

 

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

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.

It’s not about THC, it’s about CBD (cannabinoids)

Parents of children with seizures are desperate to find something that will at the very least reduce the frequency of seizures in their kids.  Answers came in an unlikely place two months ago with the publication of a randomized clinical trial showing that seizures could be reduced with use of cannabinoids in kids with a condition called Dravet’s Syndrome.  Cannabinoids are one of the chemicals found in marijuana, and there are anecdotal reports on the use of marijuana or cannabinoids to treat autism.  Unlike THC, CBD (cannabinoids) do not cause euphoria or any psychoactive effects and are used exclusively for medicinal reasons.  This podcast summarizes current literature and also explains why it is so hard to study cannabinoids, including federal and state regulations and what needs to happen to open up this field of science

Chromosome 15-apallooza

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.

A 4th of July quickie on new data for treatment of autism symptoms

Happy 4th of July weekend.  This week’s podcast is devoted to the studies in the past few months focusing on autism treatments that didn’t make it into the regular weekly roundup.  They include data that shows promising results (peer networks and iPads) as well as those that didn’t do as well as hoped (social skills).  There were also some that showed that some therapies just don’t have any good studies to show definitively if they are helpful or not.  Take 8 minutes before the fireworks and listen to the latest on interventions of ASD.