Autism Science Foundation Weekly Science Report

This week the media over-hyped a publication on a potential link between Alzheimer’s and Autism Spectrum Disorder. However, this new study did identify a new treatment target for some forms of ASD. Not all forms, but some forms. Not all forms of ASD have the same underlying neurobiology and while one treatment may help a larger group of people with ASD, they also may not. This week’s podcast explores potential treatment targets in 3 different animal models of ASD. 

https://www.ncbi.nlm.nih.gov/pubmed/32126198https://www.ncbi.nlm.nih.gov/pubmed/32123378

A series of three scientific articles explore the link between the onset of psychiatric symptoms in adolescence in people with Phelan McDermid Syndrome, or PMS.  PMS is caused by a mutation in the SHANK3 gene, leading to a wide range of medical, behavioral and intellectual challenges, as well as autism spectrum disorder.  Scientists used a broad literature review as well as the PMS patient registry to better describe what was going on, and a group at Duke compiled a case series of girls affected that were responsive to treatment.  While so far this decompensation as a result of onset of psychiatric illness has only been documented in PMS, families across the spectrum should be aware so they can seek immediate help for their child if they see similar symptoms.

https://www.ncbi.nlm.nih.gov/pubmed/32050889

https://www.ncbi.nlm.nih.gov/pubmed/31879555

https://www.ncbi.nlm.nih.gov/pubmed/32015180

One the surface, symptoms of ADHD and ASD may seem very similar.  However, they come from very different places.  The genetic and behavioral makeup may be on the same spectrum across the two disorders, but they are actually farther apart than you might think.  Dr. Meghan Miller from UC Davis MIND Institute who studies both ADHD and ASD and people with ADHD and ASD explains what those differences and similarities are, how to make the right diagnosis, and what’s on the horizon for treatments for ADHD in people with ASD.

 

https://www.ncbi.nlm.nih.gov/pubmed/31974800

https://www.ncbi.nlm.nih.gov/pubmed/30535156

https://www.ncbi.nlm.nih.gov/pubmed/30658861

In this week’s podcast, I semi-plagiarize from a recent summary of sex differences in ASD, written by Drs. Meng-Chuan Lai and Peter Szatmari from the University of Toronto.  They delve into why more males are diagnosed with females, and differences in the presentation of those features of ASD that differ between males and females.  These include camouflaging, differences in language style, differences based on behaviors determined by sex, and associated features like anxiety and internalizing behaviors.  Thank you to the authors for putting together the information in a way that makes sense.

https://www.ncbi.nlm.nih.gov/pubmed/31815760

https://www.ncbi.nlm.nih.gov/pubmed/30962869

This week a new study showed that kids with autism wander as early as toddlers, so parents keep a close eye on your kids no matter what their age.  Medications do not work, but behavioral interventions do seem to help.  This podcast gives some examples.   Also, another study shows the efficacy and safety of melatonin for helping kids with ASD fall asleep and stay asleep, even after 2 years.   Melatonin may not be the magic bullet we need for sleep problems, but it doesn’t seem to hurt either.

 

https://www.ncbi.nlm.nih.gov/pubmed/31977588

https://www.ncbi.nlm.nih.gov/pubmed/30838492

https://www.ncbi.nlm.nih.gov/pubmed/31982581

This week, a special focus on genetics:  what type, where do they come from, what do these genes do and how do they influence risk of a wide array of psychiatric issues including autism.  The results come from the largest study to date of people with autism as well as those with ADHD, bipolar disorder and schizophrenia.  It’s also the largest study of the Female Protective Effect so far.  Even if genetics does not explain everything about ASD, genetics is important and you deserve to know why.  Below is a graphical abstract of what they found:

 

 

https://www.cell.com/action/showPdf?pii=S0092-8674%2819%2931398-4

https://www.ncbi.nlm.nih.gov/pubmed/31835028

 

Two studies missed last year (sorry) but are of importance to the autism community include a modified version of Cognitive Behavioral Therapy to treat anxiety, which was adapted and updated for people with ASD.  It also works better than traditional CBT, which is good news for  the 80% of people with ASD that also suffer from anxiety.  Also, in recognition of MLK day today, the CDC released information last year that shows that 1/4 of those that they counted in their prevalence numbers were missed by schools or other health care providers.  Unfortunately, those who were black or hispanic were more likely to be those that were missed but still met criteria.  This just shows that educators have to do better in helping those with ASD from all racial and ethnic backgrounds.

https://www.ncbi.nlm.nih.gov/pubmed/31868321

https://www.ncbi.nlm.nih.gov/pubmed/31755906

When people hear the word “heritability” in mathematical estimates, they automatically think “just genetics”.  That isn’t true, and this week epidemiologist Brian Lee from Drexel talks us through his SpectrumNews viewpoint about what heritability actually is and why there is room for environment.  Also this week, twin studies, which have traditionally used the word heritability to distinguish genetic vs. environmental interactions, are studied in a new light.  This one shows that severity and differences of autism across the spectrum in identical twins are caused by environmental differences – not just genetics.

https://www.ncbi.nlm.nih.gov/pubmed/31853901

Does autism begin at a diagnosis, or before a diagnosis?  How early do genetics influence outcome?  This podcast explores a new angle to this question using studies in sperm.  One type of major ASD relevant mutation is de-novo mutations, meaning they are seen in the person with ASD but neither biological parent.  So where do they come from?  They may come from germ cells of the embryo of the parent, which forms the sperm and the egg.  Researchers from UCSD looked at mutations in sperm vs. blood in fathers of those with de-novo mutations and found an enrichment of genetic mutations in sperm.  This means the window of susceptibility can include not just things that happen at conception, but before conception.  Below is a graphic taken from a commentary of this study in Nature by Eric Morrow which may be helpful.

 

What more appropriate podcast to end 2019 with than the summary of advances of scientific research of autism spectrum disorders?   The SAB of ASF and the CSO categorized the highlights in science into 8 categories which are outlined in this 30 minute podcast.  You can also read them on the ASF website here.  Thank you for listening to the ASF Weekly Science Podcast in 2019, and talk to you in 2020!