Effect of epilepsy on autism symptoms in Angelman syndrome.
Kristin A Bakke, Patricia Howlin, Lars Retterstøl and 3 others
PMID 29340132WHAT IT FOUND
In Angelman syndrome, earlier onset of seizures is strongly linked to more autism symptoms, even when accounting for the specific genetic cause.
This suggests the seizures themselves, rather than just the underlying genetic deletion, contribute to the severity of autistic behaviours.
Key findings
01Age at epilepsy onset was highly correlated with SCQ score (r = − 0.61, p = 0.0004).
02In regression models, age at onset of seizures had an independent contribution to autism symptoms, while the type of genetic aberration did not.
03SCQ scores were higher in individuals with epilepsy than in those without, but the difference was not significant.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for SLPs
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What it does not show
The sample size was small, particularly the group without epilepsy (n=7). Intellectual disability severity was not formally measured, only estimated via nonverbal communication levels. Autism diagnosis was not clinically assessed; the study relied on the SCQ, which measures symptom frequency rather than diagnosing ASD. Medical records were incomplete, and formal seizure classification was rarely performed, so some seizure types may have been missed. The age range of participants was very wide (1-57 years).
Declared interests
No specific conflicts of interest were declared in the provided text, though the study was supported by non-U.S. government funds.
The easy way to misread this
Do not conclude that epilepsy causes autism in Angelman syndrome. This study shows an association between earlier seizure onset and more autism symptoms, but it cannot prove causation. Furthermore, the difference in autism scores between those with and without epilepsy was not statistically significant, so epilepsy itself (presence vs. absence) was not the primary driver found here, but rather the timing of its onset.