Posts Tagged ‘ASD’

Opinion | Autism Rates Have Increased 60-Fold. I Played a Role in That. – The New York Times

July 6, 2025

https://www.nytimes.com/2025/06/23/opinion/why-autism-rates-increased.html

Autism Rates Have Increased 60-Fold. I Played a Role in That.

June 23, 2025

By Allen Frances

Dr. Frances is a psychiatrist. He led the American Psychiatric Association’s task force charged with creating the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders.

QT:{{”

Robert F. Kennedy Jr., secretary of health and human services, is correct that reported autism rates have exploded in the last 30 years — they’ve increased roughly 60-fold — but he is dead wrong about the causes. I should know, because I am partly responsible for the explosion in rates.

The rapid rise in autism cases is not because of vaccines or environmental toxins, but rather is the result of changes in the way that autism is defined and assessed — changes that I helped put into place.

In the late 1980s and early 1990s, I was the chair of the task force charged with creating the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders, or the D.S.M.-IV. Sometimes called the “bible of psychiatry,” the D.S.M. influences medical practice, insurance coverage, education and treatment selection.

In the third edition of the D.S.M., published in 1980, autism was tightly defined and considered extremely rare. Criteria for the diagnosis required a very early onset (before age 3) of severe cognitive, interpersonal, emotional and behavioral problems.

But my task force approved the inclusion of the new diagnosis, Asperger’s disorder, which is much milder in severity than classic autism and much more common. In doing so, we were responding to child psychiatrists’ and pediatricians’ concerns for children who did not meet the extremely stringent criteria for classic autism, but had similar symptoms in milder form and might benefit from services.

Based on careful studies, our task force predicted that the addition of Asperger’s disorder would modestly increase the rate of children given an autism-related diagnosis. Instead, the rate increased more than 16-fold, to one in 150 from an estimated one in 2,500 in the span of a decade. It has been climbing more gradually ever since and is one in 31 today. Our intentions were good, but we underestimated the enormous unintended consequences of adding the new diagnosis. “}}

…request | Mapping cis-regulatory elements in neurons

July 2, 2022

link to the article about cis-regulatory elements:
https://www.spectrumnews.org/news/toolbox/new-resource-maps-gene-expression-regulation-in-neuron-subtypes/

New resource maps gene expression, regulation in neuron subtypes BY CHLOE WILLIAMS / 1 JULY 2022

QT:{{”
“That’s interesting,” says Mark Gerstein, professor of biomedical informatics at Yale University, who was not involved in the research. The findings might imply that autism affects subtypes of neurons equally, but classifying excitatory and inhibitory neurons into even smaller groups could lead to different results, he says.
“}}

Single-cell genomics of autism

May 18, 2019

https://science.sciencemag.org/content/364/6441/685

Final Article — American Scholar Magazine

March 12, 2019

WORKS IN PROGRESS – SPRING 2019
Decoding DNA
On the hunt for the genetic roots of mental illnesses

By Marcus Banks | March 4, 2019

QT:[[”
The model, a form of artificial intelligence, aims to use abstract knowledge gained in the research lab to improve clinical treatments for real patients. The ultimate goal, says Gerstein, is to use the model to develop pharmaceutical treatments that reduce the impact of schizophrenia. Part of the challenge in developing drugs to treat the disease is the fact that it is not a one-size-fits-all condition. “]]

https://theamericanscholar.org/decoding-dna/#.XH7RRlNKiqA

Analysis spotlights mutations in ‘dark’ regions of the genome | Spectrum | Autism Research News

December 23, 2018

https://www.spectrumnews.org/news/analysis-spotlights-mutations-dark-regions-genome/

Massive analysis refines map of autism’s genetic roots | Spectrum | Autism Research News

December 23, 2018

https://www.spectrumnews.org/news/massive-analysis-refines-map-autisms-genetic-roots/

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder | Nature Neuroscience

July 27, 2018

Genome-wide prediction & functional characterization of the genetic basis of autism spectrum disorder, by @OlgaTroyanskaya lab
https://www.Nature.com/articles/nn.4353 Intersected candidate #ASD genes w/ #BrainSpan gene expression to find a pre-natal signal for the disease

George Church ascribes his visionary ideas to narcolepsy

July 18, 2017

.@GeoChurch ascribes his…ideas to narcolepsy
https://www.StatNews.com/2017/06/08/george-church-narcolepsy Advocates more neurodiversity, ie those w. ASD, OCD, ADD + narcolepsy

QT:{{”
“His condition has persuaded Church of the benefits of, even the need for, neurodiversity, meaning brains that work differently from most others. The world needs people with high-functioning autism and obsessive-compulsive disorder and attention deficit disorder and, yes, narcolepsy, he has come to believe.”
“}}

Genome-wide, integrative analysis implicates microRNA dysregulation in autism spectrum disorder : Nature Neuroscience : Nature Research

January 28, 2017

Genome-wide…analysis implicates miRNA dysregulation in #ASD http://www.nature.com/neuro/journal/v19/n11/full/nn.4373.html 58 diff. expr. miRNAs incl 17 strongly down in cases

http://www.nature.com/neuro/journal/v19/n11/full/nn.4373.html

QT:{{”
The miRNA expression profiles were very similar between the frontal and temporal cortex, but were distinct in the cerebellum
(Supplementary Fig. 2a–f), consistent with previous observations for mRNAs11, 12. We therefore combined 95 covariate-matched samples (47 samples from 28 ASD cases and 48 samples from 28 controls;
Supplementary Fig. 1c and Supplementary Table 1) from the FC and TC for differential gene expression (DGE) analysis, comparing ASD and CTL using a linear mixed-effects regression framework to control for potential confounders (Online Methods). We identified 58 miRNAs showing significant (false discovery rate (FDR) < 0.05) expression changes between ASD and CTL: 17 were downregulated and 41 were upregulated in ASD cortex (Fig. 1b and Supplementary Table 2). The fold changes for the differentially expressed miRNAs were highly concordant between the FC and TC (Pearson correlation coefficient R = 0.96, P < 2.2 × 10−16; Fig. 1c).
“}}

Genotype to phenotype relationships in autism spectrum disorders : Nature Neuroscience : Nature Publishing Group

February 26, 2015

Genotype to phenotype relationships in ASD http://www.nature.com/neuro/journal/v18/n2/abs/nn.3907.html Expression differences in #brain development for LOF-containing, M v F, &c

Also, netbag finds subnets assoc w autism