Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, UK.
Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Epilepsia. 2019 May;60(5):818-829. doi: 10.1111/epi.14722. Epub 2019 Apr 11.
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 neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored.
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.
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) (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).
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.
22q11.2 缺失综合征（22q11.2DS）中癫痫发作和癫痫的真实患病率尚不清楚，因为之前的研究依赖于对历史病历的回顾。癫痫与其他神经发育表现（例如特定的精神科诊断）之间的关联仍未得到探索。
108 名缺失携带者（平均年龄 13.6 岁）和 60 名对照兄弟姐妹（平均年龄 13.1 岁）的主要照顾者完成了经过验证的癫痫筛查问卷。亚组（n=44）接受了第二次评估，包括访谈、延长脑电图（EEG）以及病历和癫痫专家的审查。使用神经认知评估和问卷/访谈检查智商（IQ）、精神病理学和其他神经发育问题。
11%（12/108）的缺失携带者有癫痫诊断（对照组为 0%，P=0.004）。在其余 96 名缺失携带者中，有 57 名（59.4%）有癫痫发作或类似癫痫发作的症状（对照组为 13.3%，8/60，P<0.001）。24.1%（26/107）的病例报告有热性惊厥（对照组为 0%，P<0.001）。一名有癫痫临床病史的缺失携带者在第二次评估中被诊断出患有另一种无诱因癫痫发作。一名缺失携带者新诊断为癫痫，另外两名可能患有非运动性失神发作。在 IQ 较低（比值比[OR]0.96，P=0.018）、注意力缺陷多动障碍（ADHD）（OR 3.28，P=0.021）、自闭症症状（OR 3.86，P=0.004）和运动协调障碍（OR 4.56，P=0.021）的缺失携带者中，癫痫问卷的阳性筛查更有可能。
即使考虑到诊断为癫痫的缺失携带者，癫痫发作和类似癫痫发作的报告也很常见。在某些情况下，这些可能是“真正的”癫痫发作，在常规临床护理中未被识别。与已知人群风险相比，热性惊厥在缺失携带者中更为常见。22q11.2DS 中癫痫发作的倾向与认知障碍、精神病理学和运动协调问题有关。需要进一步的研究来确定这是否反映了常见的神经生物学风险途径，还是反复癫痫发作的结果。
