News / Spectrum

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

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

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