From the EEG Section, NINDS (J.M.S.), Medical Genetics Branch, National Human Genome Research Institute (S.E.S., A.L.G.), and Program on Developmental Endocrinology and Genetics, NICHD (C.A.W.), NIH, Bethesda; Departments of Child and Adolescent Psychiatry (D.C.L., E.T.) and Neurology and Developmental Medicine (W.H.T., J.B.E.), Kennedy Krieger Institute, Baltimore; Departments of Neurology (W.H.T., J.B.E.) and Psychiatry and Behavioral Sciences (E.T.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Pediatric Neurology (W.H.T., F.D.P.), Penn State Hershey Children's Hospital, Hershey, PA; Department of Biostatistics (B.S.C.), Johns Hopkins University School of Public Health, Baltimore, MD; Department of Neurology (A.L.G.), Children's National Medical Center; and George Washington University of the Health Sciences (A.L.G.), Washington, DC.
Neurology. 2014 Jul 8;83(2):151-9. doi: 10.1212/WNL.0000000000000565. Epub 2014 Jun 11.
We sought to examine the prevalence of EEG abnormalities in Smith-Lemli-Opitz syndrome (SLOS) as well as the relationship between interictal epileptiform discharges (IEDs) and within-subject variations in attentional symptom severity.
In the context of a clinical trial for SLOS, we performed cross-sectional and repeated-measure observational studies of the relationship between EEG findings and cognitive/behavioral factors on 23 children (aged 4-17 years). EEGs were reviewed for clinical abnormalities, including IEDs, by readers blinded to participants' behavioral symptoms. Between-group differences in baseline characteristics of participants with and without IEDs were analyzed. Within-subject analyses examined the association between the presence of IEDs and changes in attention-deficit/hyperactivity disorder (ADHD) symptoms.
Of 85 EEGs, 43 (51%) were abnormal, predominantly because of IEDs. Only one subject had documented clinical seizures. IEDs clustered in 13 subjects (57%), whereas 9 subjects (39%) had EEGs consistently free of IEDs. While there were no significant group differences in sex, age, intellectual disability, language level, or baseline ADHD symptoms, autistic symptoms tended to be more prevalent in the "IED" group (according to Autism Diagnostic Observation Schedule-2 criteria). Within individuals, the presence of IEDs on a particular EEG predicted, on average, a 27% increase in ADHD symptom severity.
Epileptiform discharges are common in SLOS, despite a relatively low prevalence of epilepsy. Fluctuations in the presence of epileptiform discharges within individual children with a developmental disability syndrome may be associated with fluctuations in ADHD symptomatology, even in the absence of clinical seizures.
我们旨在研究 Smith-Lemli-Opitz 综合征（SLOS）患者脑电图异常的发生率，以及发作间期癫痫样放电（IED）与注意力症状严重程度的个体内变化之间的关系。
在 SLOS 的临床试验背景下，我们对 23 名儿童（年龄 4-17 岁）的脑电图发现与认知/行为因素之间的关系进行了横断面和重复测量观察性研究。对脑电图进行了临床异常（包括 IED）的审查，审查者对参与者的行为症状不知情。分析了有无 IED 的参与者在基线特征方面的组间差异。在个体内分析中，研究了 IED 的存在与注意力缺陷多动障碍（ADHD）症状变化之间的关联。
在 85 份脑电图中，有 43 份（51%）异常，主要是因为 IED。只有一名患者有记录的临床发作。IED 聚集在 13 名患者（57%）中，而 9 名患者（39%）的脑电图始终无 IED。虽然在性别、年龄、智力残疾、语言水平或基线 ADHD 症状方面没有显著的组间差异，但根据自闭症诊断观察量表-2 标准，“IED”组的自闭症症状更为普遍。在个体内，特定脑电图上存在 IED 平均预测 ADHD 症状严重程度增加 27%。
尽管癫痫的发病率相对较低，但癫痫样放电在 SLOS 中很常见。发育障碍综合征个体内 IED 存在的波动可能与 ADHD 症状学的波动有关，即使没有临床发作。
