Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder.
Robin P Goin-Kochel, Sandy Trinh, Shelley Barber and 1 others
PMID 28856484WHAT IT FOUND
Most children with autism did not lose skills.
Those who lost both language and social skills had a higher rate of specific genetic mutations in postsynaptic density genes. This links certain biological pathways to skill loss but does not offer new treatment options.
Key findings
0112% of the sample experienced loss in both language and social skills, while 31% experienced loss in at least one domain.
02Children with mutations in postsynaptic density genes had significantly higher rates of skill loss compared to children with other types of gene mutations.
03There was no significant difference in skill loss rates between children with any type of likely gene disrupting mutation and those without such mutations.
STILL TO COME
How it was doneWhat they found
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What it does not show
The definition of skill loss was very strict, requiring loss of both language and social skills, which may exclude children with partial losses. The study relied on parent reports of skill loss rather than prospective observation. Sample sizes for specific genetic subgroups were small, limiting the certainty of findings. The study did not identify specific genes that conclusively explain skill loss, only broader functional pathways. The analysis excluded children with mutations in more than one functional gene cluster to simplify the data.
Declared interests
The authors declared no conflicts of interest.
The easy way to misread this
Do not interpret the association between postsynaptic density gene mutations and skill loss as a diagnostic tool or a target for therapy. This is a genetic association study, not a clinical trial, and it does not prove that these mutations cause the loss of skills, only that they are more common in children who experienced it.