EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.
Anneke de Boer, Karlijn Vermeulen, Jos I M Egger and 7 others
PMID 29416845WHAT IT FOUND
Three adults with EHMT1 mosaicism, previously thought unaffected, were diagnosed with autism and mood disorders.
Despite high adaptive scores, they showed social isolation and cognitive inflexibility. Genetic testing should be considered in parents with psychiatric symptoms and children with neurodevelopmental disorders.
Key findings
01All three subjects met diagnostic criteria for autism spectrum disorder and had current or past major depressive disorder.
02All subjects demonstrated impaired mental flexibility, with Intra-Extra Dimensional Test scores lower than 35% of the peer group.
03None of the subjects had been referred to a medical specialist for their own psychiatric problems prior to this study, despite significant functional impairment.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study includes only three subjects, which is insufficient to establish a reliable pattern or prevalence of symptoms. Participants were identified through their children's diagnosis, introducing potential selection bias. The degree of genetic mosaicism varied widely between subjects, making it difficult to link specific symptoms to a uniform genetic cause. The authors note that behavioral outcomes of mosaicism are unpredictable and cannot be generalized.
The easy way to misread this
Do not assume that a parent with EHMT1 mosaicism will have the same severe intellectual disability or physical features as their child with Kleefstra syndrome. These adults may function at an adult level on adaptive tests but still experience significant, untreated psychiatric and social difficulties.