The National Institutes of Health just awarded $50million to 13 different research sites to better understand genetic and environmental contributions to an autism diagnosis, or increase in prevalence in autism, as well as environmental factors which improve the quality of life for children and adults with ASD.

You can read about them here or listen to this 30 minute podcast which summarizes them.

https://dpcpsi.nih.gov/autism-data-science-initiative/funded-research

Catatonia is a syndrome which includes immobility, stupor, and sometimes regression in psychiatric wellness or even ability to feed or take care of ones self. This syndrome is seen in autism about 10% of the time but is is often overlooked or misdiagnosed. This may be because the symptoms are relatively rare or because catatonia is harder to detect in those with autism. This week, special guests Drs. Joshua Smith and Dr. Zachary Williams from Vanderbilt University discuss what happens when researchers following people who are suffering from catatonia and autism across time. What treatments work? How?

Click to access AUR-18-449.pdf

ASF has partnered with NCSA, Autism Speaks, Vanderbilt University, the Catatonia Foundation and other groups to bring you a 6 part series on catatonia given by experts and family members. It is aimed at increasing the visibility and research priority of catatonia. It is NOT this podcast – you have to register via zoom seperately here:

https://us06web.zoom.us/meeting/register/RV6rkPh_SAW8Hw3wmQdCrg

Contextual factors, or external factors, are environmental influences and can impact not just a diagnosis but the life course of a person with autism and their families. A recent commentary by autism researchers around the world highlights the importance of these factors and provides resources on how they can be collected in a rigorous, but accessible, way. Dr. Marsha Mailick, lead author of the commentary, discusses the definition of contextual factors, why they are important, and how they can influence development. Read the commentary – open access – here: https://onlinelibrary.wiley.com/doi/10.1002/aur.3312

While it may not seem like it, the COVID-19 pandemic brought some advances in care and understanding for people on the spectrum. One example is the development and validity of remotely administered assessments that families can participate in from home rather than travel to a clinic. These tools were built out of necessity, and are evolving into a set of tools that can be used to build better outcome measures for clinical trials. This round focused on those with autism and a rare genetic variant or “neurogenetic syndromes” since these individuals have a known biological etiology of autism. However, they may be further improved to be utilized across the autism spectrum.

https://pubmed.ncbi.nlm.nih.gov/39643599

https://pubmed.ncbi.nlm.nih.gov/39526825

This week, special podcast correspondent #MiaKotikovski summarizes new research on the increasing prevalence of autism, with a focus on females. While the number of diagnosed females is increasing faster than the number for males, females assigned at birth still are less likely to receive a diagnosis than males. Additional evidence points to females having more genetic mutations and lower cognitive ability, so the questions remain: Are there females with autism who are just not getting diagnosed despite having all the autism features? Why not? Does autism in females “look” the same as autism in males? What sets them apart? These articles are all featured in the year-end highlight of research, so this is the time to get a deep explanation of the latest in sex differences in #autism.

https://pubmed.ncbi.nlm.nih.gov/34563942

https://pubmed.ncbi.nlm.nih.gov/39334436

https://pubmed.ncbi.nlm.nih.gov/33966484

General psychiatrists are trained deal with a range of psychiatric issues in a variety of areas, but very few have experience helping families of children and adults with autism. This is training that is desperately needed, as, like other professions, there are not enough psychiatrists to help families and waitlists are staggering. Dr. Arthur Westover at UT Southwestern discusses some potentially simple solutions, what he has tried and worked, and how families and advocacy groups can get more involved to ensure that doctors know about the unique and difficult psychiatric issues that autistics face. His ideas will not happen spontaneously, it’s going to take work to make psychiatrists more tuned into the needs of the autism community. He even wrote a paper (link below).

https://pubmed.ncbi.nlm.nih.gov/38782841

Autistic individuals are turning to self-diagnosis to explain their autism features, sometimes based on better awareness, sometimes based on what they see on social media. But how accurate are these autism diagnostic tools? They range anywhere from tik-tok videos all the way to a tool called the RAADS-R which has been described as a valid diagnostic measure. Unfortunately, as discussed by scientist Alexandra Sturm who looked closely at what this tool measures, it’s probably not a true diagnostic measure. However, diagnosis for adults is hard to obtain, Dr. Sturm provides suggestions on what to do if you are curious about an autism diagnosis and don’t know where to turn.

The RAADS can be found here: https://embrace-autism.com/raads-r/

https://www.tandfonline.com/doi/full/10.1080/09515089.2024.2327823

https://pubmed.ncbi.nlm.nih.gov/38305196/

This podcast has not covered transition from adolescence to adulthood in the past, probably because there has not been a lot of research in this area. Luckily, recently there has been a surge of investigations and scientifically – supported interventions and recommendations for individuals who are transitioning to adulthood. This podcast reviews the latest in where the gaps are and identified some (of many) areas that need further research. Here are the references that will be helpful.

https://pubmed.ncbi.nlm.nih.gov/38493400/

https://pubmed.ncbi.nlm.nih.gov/38501189/

https://pubmed.ncbi.nlm.nih.gov/38423723/

https://www.autismspeaks.org/tool-kit/transition-tool-kit

This week’s podcast covers two new papers of interest to the autism community. First, another study showing increase in self harm and suicide in those with autism – no new news there – but a new discovery this week showed a vulnerability of females with a diagnosis. The study also explores the lower rate of suicide in those with IDD but higher rate of self harm in this same group. Second, the mystery of autism genetics is slowly unveiled. Why is rare variation so influential in an autism diagnosis? As it turns out those with rare variation also have common variation, piling on the genetic liability in this group. Common variation is also uniquely linked to language delay in autism, so is this a core feature? Links below are the scientific articles as well as resources to support those dealing with mental health problems in the autistic community.

Mental health links:

https://vkc.vumc.org/assets/files/resources/mental-health-toolkit.pdf

https://www.camh.ca/-/media/files/cundill-centre/depression-and-autism-full-pdf.pdf

https://www.yorku.ca/health/lab/ddmh/wp-content/uploads/sites/407/2021/04/Mental-Health-Literacy-Guide-for-Autism_Section-9.pdf

https://www.azrieli-anc.com/autism-mental-healthhttps://www.autism.org.uk/advice-and-guidance/topics/mental-health/suicide#How%20do%20I%20get%20help%20and%20support

Articles:

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2808056

Genetics study is OPEN ACCESS: https://www.pnas.org/doi/abs/10.1073/pnas.2215632120?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0pubmed

Two recent papers suggest that a childhood diagnosis of ASD is important for adulthood quality of life and well being. But another one points out that it isn’t the only thing, or even the primary factor, involved in improved quality of life and well-being as autistic adults age. There are others, like comorbid mental health problems, demographic factors like gender and current age. These studies were conducted by autistic researchers and did an amazing thing – one tried to replicate the other. The media got the point of these findings wrong (shocker) so today’s #ASFpodcast explains what they mean.

https://journals.sagepub.com/doi/pdf/10.1177/13623613231173056

https://journals.sagepub.com/doi/pdf/10.1177/13623613221086700?casa_token=Pt_EcbUzuDQAAAAA:_qVIXsQGRxWgoSOp4-kpLdohAr6CiB5lFYbhx8kK5omusM4rfHTjeyuzSLbxPh1OFftAc4j8BkuzCA

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296439/