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BCL11A-related intellectual developmental disorder; intervention dosage; gray-matter volume

Here is a roundup of autism-related news and research spotted around the web for the week of 11 November.

By Jill Adams
12 November 2024 | 2 min read
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https://doi.org/10.53053/LWRF1005 https://doi.org/10.53053/LWRF1005 - opens a new tab Cite this article
  • Genotype-phenotype analysis of 77 people with BCL11A-related intellectual developmental disorder shows a range of BCL11A variants and traits, including microcephaly, hypotonia, persistence of fetal hemoglobin and autism. European Journal of Human Genetics
  • A clinical trial of the metabotropic glutamate receptor 5 modulator known as mavoglurant found no change in the levels of blood biomarkers in people with fragile X syndrome. SAGE Open Medicine
  • People with de novo variants of the GSK3B gene, which affect neuron morphology, tend to have developmental delay, sleep problems, aggression and autism, according to a study in 15 people. Molecular Psychiatry
Research image of gray-matter volume in the brains of people with autism (bottom row) and attention-deficit/hyperactivity disorder (top row).
Size matters: A new atlas shows decreases (green) and increases (yellow) in gray-matter volume in autism (bottom row) and attention-deficit/hyperactivity disorder (top row).
  • In a letter, Thomas Frazier and his colleagues argue that biased sampling led to an errant conclusion about intervention dosage for people with autism. In a reply, Micheal Sandbank and a co-author assert that Frazier’s pooling of data across interventions is misleading. Spectrum has previously reported on Sandbank’s concern about negative findings that aren’t published despite preregistration. JAMA Pediatrics
  • Specific changes in regional gray-matter volume that align with psychiatric diagnoses can be gleaned by taking co-occurring conditions into account. Biological Psychiatry
  • A phosphodiesterase 4D inhibitor called BPN14770, which improves cognitive function in men with fragile X syndrome, alters N1 event-related potentials in a blood-level-dependent way, suggesting that EEG can produce a treatment biomarker. Spectrum covered the earlier clinical trial results of this drug in 2021. Molecular Autism
  • The editors of PLOS ONE have retracted a 2020 article that purported to identify a predictive profile for autism based in part on nine biomarkers. Concerns included irregularity in the raw data files. PLOS ONE

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