Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders.
Russell C Dale, Shekeeb Mohammad, Velda X Han and 7 others
PMID 39985218WHAT IT FOUND
Eight children with rare chromatin gene variants experienced sudden loss of skills after infections.
Clinicians noted that antibiotics and immune treatments helped some children recover previous abilities, though this is not proof that these treatments work for other patients.
Key findings
01Seven of the eight children had a sudden loss of skills triggered by an infection, while one was linked to a vaccine.
02The most common signs of this sudden decline were loss of social or speech skills, emotional dysregulation, and obsessive-compulsive behaviours.
03Clinicians and parents reported that some children improved when given antibiotics or intravenous immunoglobulin, but these observations are subject to bias.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The study includes only eight children, which is too few to draw general conclusions about treatment effectiveness or prevalence. The observations of treatment benefits were made by clinicians and parents who expected improvement, which introduces significant bias. The paper acknowledges that infections are common in children, so the link between infection and regression might be coincidental rather than causal. There was no control group or comparison with children who did not receive the specific immune treatments or antibiotics.
Declared interests
The study was funded by the National Health and Medical Research Council, Jeffrey Modell Foundation, John Brown Cook Foundation, and Petre Foundation. No specific financial conflicts of interest for the authors were declared in the provided text.
The easy way to misread this
Do not assume that antibiotics or immune treatments are effective therapies for neuroregression in other children. The improvements seen here were in a very small group, and the authors explicitly state that these results could be due to natural recovery or observer bias rather than the treatments themselves.