Flip-flopping on folate: Leucovorin prescriptions for children with autism increased by 71 percent after a White House briefing last September that promoted the drug as an autism treatment, according to a new study. In analyzing the evidence base for the announcement, The Transmitter found that the 23 studies encompassed data from a total of 46 people who all had cerebral folate deficiency, a rare brain condition with autism-like traits. Last week, the U.S. Food and Drug Administration approved leucovorin for use in cerebral folate deficiency and, at the same time, retreated from asserting its efficacy in autism. Indeed, a 2024 clinical trial that reported positive results for the drug in autistic children was retracted in January.
Long reads: A pair of papers offer new evidence that long-read sequencing better identifies genetic variation, including de novo variants, structural variants and tandem repeats. Both studies reinforce previous research in demonstrating that long-read sequencing enables a more comprehensive understanding of the genetics of autism. The Transmitter previously reported on one of these investigations, which focused on identifying variants that short-read sequencing misses.
Autism research spotted this week:
- “Uta Frith: Why I no longer think autism is a spectrum” TES Magazine
- “From heterogeneity to idiosyncrasy in the autistic brain” Nature Mental Health
- “Stratifying the autisms by a type I versus type II distinction in early development” Nature Mental Health
- “Motor performance in autistic youth from childhood through adolescence: Evidence for both sustained and widening group differences” Autism Research
- “Identifying neurodevelopmental domain subgroups in autism and ADHD” Journal of Autism and Developmental Disorders
- “Genetic insights on the mechanisms of human cortical folding” bioRxiv
- “A family portrait of the genomic factors shaping tandem repeat mutagenesis” bioRxiv
