Journal
EPILEPSIA
Volume 60, Issue 5, Pages 818-829Publisher
WILEY
DOI: 10.1111/epi.14722
Keywords
electroencephalography; febrile seizure; psychiatric disorder; seizure semiology; unprovoked seizure
Categories
Funding
- Medical Research Council [G0801418, G0800509, 1644194]
- National Institute of Mental Health [NIMH 5UO1MH101724]
- Wellcome Trust Strategic Award [503147]
- Wellcome Trust Institutional Strategic Support Fund (ISSF)
- Waterloo Foundation [WF 918-1234]
- Baily Thomas Charitable Fund [2315/1]
- Health & Care Research Wales (Welsh Government) [507556]
Ask authors/readers for more resources
Objective: The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. Associations of epilepsy with other neuro developmental manifestations (eg, specific psychiatric diagnoses) remain unexplored. Methods: The primary caregivers of 108 deletion carriers (mean age 13.6 years) and 60 control siblings (mean age 13.1 years) completed a validated epilepsy screening questionnaire. A subsample (n=44) underwent a second assessment with interview, prolonged electroencephalography (EEG), and medical record and epileptologist review. Intelligence quotient (IQ), psychopathology, and other neurodevelopmental problems were examined using neurocognitive assessment and questionnaire/interview. Results: Eleven percent (12/108) of deletion carriers had an epilepsy diagnosis (controls 0%, P=0.004). Fifty-seven of the remaining 96 deletion carriers (59.4%) had seizures or seizurelike symptoms (controls 13.3%, 8/60, P<0.001). A febrile seizure was reported for 24.1% (26/107) of cases (controls 0%, P<0.001). One deletion carrier with a clinical history of epilepsy was diagnosed with an additional type of unprovoked seizure during the second assessment. One deletion carrier was newly diagnosed with epilepsy, and two more with possible nonmotor absence seizures. A positive screen on the epilepsy questionnaire was more likely in deletion carriers with lower performance IQ (odds ratio [OR]0.96, P=0.018), attention-deficit/hyperactivity disorder (ADHD) (OR3.28, P=0.021), autism symptoms (OR3.86, P=0.004), and indicative motor coordination disorder (OR4.56, P=0.021). Significance: Even when accounting for deletion carriers diagnosed with epilepsy, reports of seizures and seizurelike symptoms are common. These may be true epileptic seizures in some cases, which are not recognized during routine clinical care. Febrile seizures were far more common in deletion carriers compared to known population risk. A propensity for seizures in 22q11.2DS was associated with cognitive impairment, psychopathology, and motor coordination problems. Future research is required to determine whether this reflects common neurobiologic risk pathways or is a consequence of recurrent seizures.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available