Abstract
SummaryObjectiveThe 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 neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored.MethodsThe 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.ResultsEleven 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) (OR 3.28, P = 0.021), autism symptoms (OR 3.86, P = 0.004), and indicative motor coordination disorder (OR 4.56, P = 0.021).SignificanceEven 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.
Highlights
The most common recurrent microdeletion syndrome in humans is 22q11.2 deletion syndrome (22q11.2DS), which occurs in ~1 in 2000-4000 live births.[1]
Our study had three aims: First, we explored the rates of an epilepsy diagnosis, seizures, and seizurelike symptoms in young people with 22q11.2DS and their unaffected control siblings, through data obtained from a validated questionnaire completed by the primary caregiver
Around a quarter of deletion carriers had febrile seizures
Summary
The most common recurrent microdeletion syndrome in humans is 22q11.2 deletion syndrome (22q11.2DS), which occurs in ~1 in 2000-4000 live births.[1]. Between 1% and 14.5% of patients have hypocalcemia-induced seizures.[12,13,14,15,16] In adulthood, 17.6% of patients with 22q11.2DS exposed to psychotropic drugs have epileptic seizures, suggesting a reduced seizure threshold.[13] Between 4.4% and 36.8% have repeated unprovoked seizures (ie, epilepsy).[9,13,14,15,17,18] Structural brain abnormalities in these individuals can include diffuse cerebral atrophy (18.8%), polymicrogyria (13.9%), hippocampal malrotation (10.9%), gray and white matter heterotopia (5.9%), and focal cortical dysplasia (2%).[19] Between 1% and 6.9% of patients have genetic generalized epilepsy (GGE),[13,14,15,17] and the deletion prevalence is elevated in GGE cohorts.[20]
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