It happens every year – this one belonged in the 2024 year end highlights but was published late in the year. Researchers at UCSD, UCLA and CHLA followed families with autism whose genetic test revealed a rare variant. Did it make a difference in care? Understanding? Referrals? If you are in need of a genetic test, here are some things to know: https://www.alliancegenda.org/genetic-testing

Reference here: https://www.sciencedirect.com/science/article/pii/S1098360024002673

A recent publication in the Lancet was dedicated to clinical recommendations to support autistic females at birth. Because more males than females are diagnosed with autism, their needs are often misunderstood, misinterpreted, or just ignored. Researchers, clinicians, scientists, parents and self-advocates from around the world joined together to identify those needs and propose solutions that can be implemented in everyday care. To read the article in it’s entirety, click here: https://authors.elsevier.com/c/1i5LV8Mut2Mzvb

Extension for Community Healthcare Outcomes (ECHO) pairs specialist centers with community providers to help them manage cases and empower them with knowledge to help their patients locally. It is done over the computer, which is especially relevant today. The goal is to help clinicians and physicians manage patients when local expertise is not available. Micah Mazurek of University of Virginia recently published a randomized study about the efficacy of this program, and is a special guest on the podcast to explain what it is and how it can be used to help doctors help each other and their families.

https://jamanetwork.com/journals/jamapediatrics/article-abstract/2762007

Thank you to the American Academy of Pediatrics for publishing an updated guide for their 67,000 members about identification, evaluation and management of children on the autism spectrum.  Pediatricians have a lot of things going on every day and could use a primer, or a condensed guide, on what the basic level of care should be for kids and families affected by ASD.  Here, thanks to Drs. Susan Hyman, Susan Levy and Scott Myers, from the council of the AAP on children with disabilities, they have one.  This podcast will summarize the main points of what the guidance document says.  Please download it and share it by clicking here:  https://pediatrics.aappublications.org/content/pediatrics/early/2019/12/15/peds.2019-3447.full.pdf 

This week two groups of heroes of autism research published studies that may not be the type of major breakthrough that the media reports on, but they are more important to families:  These studies help translate what works in the research clinic into the community.  Specifically, is it even possible, how, and what do families need to know when they receive an intervention that has yet to be “field tested”.  This is a whole field of research called implementation science, and it deals with how scientists and community services implement what is learned in research settings into real world settings.

https://www.ncbi.nlm.nih.gov/pubmed/31206690 

https://www.ncbi.nlm.nih.gov/pubmed/31241851

Two new studies came out this week that implicates the role of the endocrine system in autism.  The endocrine system which regulates hormones in your body, also has a key role in brain development early on in fetal and child development.   PCOS is a metabolic condition and DDT is a toxic chemical banned years ago, but both are linked to the endocrine system, both are bad for many reasons, and both are linked to autism.  These studies provide evidence that we should #savetheEPA and be aware of medical and environmental factors which do not cause, but contribute to autism.  Also, PCOS is linked to autism in adult women, so ladies – if you show signs of PCOS, please talk to a doctor!

PCOS study:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068102/  

DDT study:  https://ajp.psychiatryonline.org/doi/pdf/10.1176/appi.ajp.2018.17101129

PCOS blog:  https://www.rmanj.com/lifting-the-fog-on-polycystic-ovary-syndrome-pcos/

http://www.panna.org/resources/ddt-story

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

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.

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

Using high risk baby siblings research design, scientists at Yale University showed that as babies, girls with autism show an unusual pattern of social attention for their age, spending most of their time looking at faces.  This is in stark contrast to findings in boys.  Together with other data, the authors conclude that this early social behavior may mitigate, or protect against, the symptoms of ASD later on in life.

In the second half of the podcast, the new supplement to the journal Pediatrics is summarized, which includes important new guidelines and recommendations that affect people with autism.  As promised, here is the link so you can see for yourself.