Shrinking our way to excellence on autism
Back in the 1960s, it was believed that autism was caused by “refrigerator moms,” moms who were cold and aloof and thus drove their otherwise normal children into a lifetime of autism.
Nobody believes the refrigerator mom environment anymore. Research has shown that autism has a heritability of 60-80%. So while there may be environmental inputs, the dominant input is genetic.
“Health Secretary Robert F. Kennedy Jr has vowed to address rising U.S. autism rates as a top health priority for the Trump administration.
“Last month, he pledged $50 million to help identify environmental causes of autism, to be issued as grants by the National Institutes of Health and has announced plans to create a national “autism registry.”
“Yet during the first four months of 2025, the NIH has reduced funding for autism-related research by an estimated $31 million to $116 million from $147 million in the same period in 2024, according to a Reuters analysis of NIH data. The spending is 26% lower than the prior four-year average for that period, the analysis found.”
So let me see if I’m following this: RFK Jr. wants to create a new database (autism registry) but he is cutting research that might use this database by 26%. Does he think the research using this database will be done for free now? Or does he believe we do research by starting with the conclusion (environmental cause) and research ways to confirm that pre-ordained conclusion?
RFK Jr. cuts autism research funding
Nobody believes the refrigerator mom environment anymore. Research has shown that autism has a heritability of 60-80%. So while there may be environmental inputs, the dominant input is genetic.
“Health Secretary Robert F. Kennedy Jr has vowed to address rising U.S. autism rates as a top health priority for the Trump administration.
“Last month, he pledged $50 million to help identify environmental causes of autism, to be issued as grants by the National Institutes of Health and has announced plans to create a national “autism registry.”
“Yet during the first four months of 2025, the NIH has reduced funding for autism-related research by an estimated $31 million to $116 million from $147 million in the same period in 2024, according to a Reuters analysis of NIH data. The spending is 26% lower than the prior four-year average for that period, the analysis found.”
So let me see if I’m following this: RFK Jr. wants to create a new database (autism registry) but he is cutting research that might use this database by 26%. Does he think the research using this database will be done for free now? Or does he believe we do research by starting with the conclusion (environmental cause) and research ways to confirm that pre-ordained conclusion?
RFK Jr. cuts autism research funding
Or does he just want of list of names to put my grandson on?
Or possibly me …
[for the record, I maintain the Mad Hatter like behavior of the Deschutes River Basin of Central Oregon I’ve been trying to figure out across four generations and five multi-generational families is mercury in the water. It may not be autism, and I could wrong]
@Ten,
Autism is a neurological condition, but not all neurological conditions are autism. Just like all bullet wounds bleed but not all bleeding is due to bullet wounds.
https://pmc.ncbi.nlm.nih.gov/articles/PMC9915249/
Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined neurodevelopmental disorder. Over the past two decades, the prevalence of autism spectrum disorders has progressively increased, however, no clear diagnostic markers and specifically targeted medications for autism have emerged. As a result, neurobehavioral abnormalities, neurobiological alterations in ASD, and the development of novel ASD pharmacological therapy necessitate multidisciplinary collaboration. In this review, we discuss the development of multiple animal models of ASD to contribute to the disease mechanisms of ASD, as well as new studies from multiple disciplines to assess the behavioral pathology of ASD. In addition, we summarize and highlight the mechanistic advances regarding gene transcription, RNA and non-coding RNA translation, abnormal synaptic signaling pathways, epigenetic post-translational modifications, brain-gut axis, immune inflammation and neural loop abnormalities in autism to provide a theoretical basis for the next step of precision therapy. Furthermore, we review existing autism therapy tactics and limits and present challenges and opportunities for translating multidisciplinary knowledge of ASD into clinical practice….
https://www.uclahealth.org/news/release/new-genetic-clues-uncovered-largest-study-families-with
UCLA Health researchers have published the largest-ever study of families with at least two children with autism, uncovering new risk genes and providing new insights into how genetics influence whether someone develops autism spectrum disorder.
The new study, published July 28 in the Proceedings of the National Academy of Sciences
(Link is external) (Link opens in new window), also provides genetic evidence that language delay and dysfunction should be reconsidered as a core component of autism.
Most genetic studies of autism have focused on families with one child affected by the neurodevelopmental disorder, sometimes excluding families with multiple affected children. As a result, few studies have examined the role of rare inherited variation or its interaction with the combined effect of multiple common genetic variations that contribute to the risk of developing autism.
“Study design is critical and not enough attention has been paid to studying families with more than one affected child,” said lead study author Dr. Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology and Psychiatry at UCLA.
Autism is highly heritable: It is estimated at least 50% of genetic risk is predicted by common genetic variation and another 15-20% is due to spontaneous mutations or predictable inheritance patterns. The remaining genetic risk is yet to be determined…..
@rc,
The heritability studies that I’ve read have used twin pairs, comparing concordance between monozygotic (which share both genomics and environment) and dizygotic (which share environment but are no more related than any pair of siblings) twin pairs. I don’t know why Geschwind says “not enough attention has been paid to studying families with more than one affected child.” That’s simply false. Maybe he hasn’t paid enough attention. The literature on twin pairs has been published for decades.
@rc,
“Over the past two decades, the prevalence of autism spectrum disorders has progressively increased . . .”
Actually, it’s the frequency of autism spectrum disorder diagnoses that’s increased. It’s far from clear the actual prevalence has increased, as opposed to better diagnostic criteria.
@Joel,
Yep.