Department of Child & Adolescent Psychiatry and MRC Centre for Social Genetic & Developmental Psychiatry, Institute of Psychiatry, Kings College London, UK.
Br J Psychiatry. 2011 Apr;198(4):289-94. doi: 10.1192/bjp.bp.109.076877.
Epilepsy occurs in a significant minority of individuals with autism, but few long-term follow-up studies have been reported, so the prevalence, features (type of seizures, age at onset and severity, etc.) and correlates (IQ history of regression, family history) have only partially been identified.
To undertake a long-term follow-up study of individuals with autism in order to better characterise the features and correlates of epilepsy in individuals with autism.
One hundred and fifty individuals diagnosed with autism in childhood were followed up when they were 21+ years of age. All individuals were screened for a history of possible seizures by parental/informant questionnaire. An epilepsy interview was undertaken and medical notes reviewed for individuals with a history of possible seizures. The features and correlates of epilepsy were examined using survival and regression analysis.
Epilepsy developed in 22% of participants. In the majority, seizures began after 10 years of age. Generalised tonic-clonic seizures predominated (88%). In over a half (19/33), seizures occurred weekly or less frequently and in the majority of individuals (28/31) they were controlled with the prescription of one to two anticonvulsants. Epilepsy was associated with gender (female), intellectual disability and poorer verbal abilities. Although the presence of epilepsy in the probands was not associated with an increased risk of epilepsy in their relatives, it was associated with the presence of the broader autism phenotype in relatives. This indicates that the familial liability to autism was associated with the risk for epilepsy in the proband.
Epilepsy is an important medical complication that develops in individuals with autism. Seizures may first begin in adolescence or adulthood. Putative risk factors for epilepsy in autism were identified and these will require further investigation in future studies.
癫痫在自闭症患者中发病率较高，但目前报道的长期随访研究较少，因此，癫痫的患病率、特征（发作类型、发病年龄和严重程度等）和相关性（智商、倒退史、家族史）仅部分确定。
对自闭症患者进行长期随访研究，以更好地描述自闭症患者癫痫的特征和相关性。
对 150 名在儿童时期被诊断为自闭症的患者进行随访，随访时间为他们 21 岁及以上。所有患者均通过家长/知情者问卷筛查可能的癫痫发作史。对有癫痫发作史的患者进行癫痫访谈，并查阅病历以评估癫痫发作特征。采用生存和回归分析方法对癫痫的特征和相关性进行分析。
22%的参与者发生了癫痫。大多数患者在 10 岁后出现癫痫发作。全身性强直阵挛性发作占主导地位（88%）。超过一半（19/33）的患者每周或更少发作，大多数患者（28/31）通过服用一到两种抗癫痫药物来控制癫痫发作。癫痫与性别（女性）、智力障碍和较差的语言能力相关。虽然癫痫患者的亲属癫痫发病风险没有增加，但与亲属存在广泛的自闭症表型相关。这表明自闭症患者亲属的自闭症遗传易感性与癫痫发病风险相关。
癫痫是自闭症患者的一种重要的医学并发症。癫痫可能首先在青春期或成年期开始发作。癫痫的自闭症相关潜在危险因素已被确定，这些因素将需要在未来的研究中进一步探讨。
