Bitton Jonathan Y, Demos Michelle, Elkouby Katia, Connolly Mary, Weiss Shelly K, Donner Elizabeth J, Whiting Sharon, Ronen Gabriel M, Bello-Espinosa Luis, Wirrell Elaine C, Mohamed Ismail S, Dooley Joseph M, Carmant Lionel
Research Centre and Division of Neurology, Department of Pediatrics, Sainte-Justine Hospital (CHU Sainte-Justine), Montreal, Quebec, Canada.
Division of Neurology, Department of Pediatrics, Faculty of Medicine, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Epilepsia. 2015 Jun;56(6):856-63. doi: 10.1111/epi.12997. Epub 2015 May 5.
Infantile spasms (IS) are a severe form of childhood epilepsy associated with autism spectrum disorders (ASD) in up to 35% of cases. The objective of this post hoc analysis of our randomized control trial was to determine whether rapid diagnosis and treatment of IS could limit the incidence of ASD while identifying risk factors related to ASD outcome.
Patients with IS were randomized in a standardized diagnostic and treatment protocol. Clinical and electroencephalogram (EEG) evaluations were completed at all eight visits over 5 years, while cognitive evaluations were administered at 0, 6, 24 and 60 months, respectively. Autism was initially screened by means of the Checklist for Autism in Toddlers (CHAT) at 24 months, and formally assessed at the 30-and 60-month follow-ups using the Autism Diagnostic Observation Schedule-Generic (ADOS-G).
Of the 69 patients included in the study, 25 could not be assessed due to severe delay or death. Eleven of the 42 patients screened with CHAT, were found to be at risk of an ASD outcome. ADOS was performed in 44 and 10 were diagnosed with ASD. The CHAT proved to correlate highly with the ADOS (80% ppv). Only patients with symptomatic IS developed ASD (p = 0.003). Earlier diagnosis or successful treatment did not correlate with a reduced rate of ASD. Other risk factors were identified such as having chronic epileptic discharges in the frontotemporal areas after disappearance of hypsarrhythmia (p = 0.005 and p = 0.007) and being of nonwhite origin (p = 0.009).
ASD was only observed in children with sympyomatic IS. Other clinical risk factors include chronic frontotemporal epileptic activity and being of non-white origin. Early diagnosis and treatment did not prevent ASD as an outcome of IS. However, patients at risk for ASD could be identified early on and should in the future benefit from early intervention to potentially improve their long-term outcome.
婴儿痉挛症(IS)是儿童癫痫的一种严重形式,在高达35%的病例中与自闭症谱系障碍(ASD)相关。这项对我们随机对照试验的事后分析的目的是确定IS的快速诊断和治疗是否能限制ASD的发生率,同时识别与ASD预后相关的危险因素。
IS患者按照标准化诊断和治疗方案进行随机分组。在5年的所有8次就诊时均完成临床和脑电图(EEG)评估,而认知评估分别在0、6、24和60个月时进行。最初在24个月时通过幼儿自闭症检查表(CHAT)对自闭症进行筛查,并在30个月和60个月随访时使用自闭症诊断观察量表通用版(ADOS-G)进行正式评估。
纳入研究的69例患者中,25例因严重延误或死亡无法进行评估。在42例接受CHAT筛查的患者中,11例被发现有ASD预后风险。44例患者进行了ADOS评估,其中10例被诊断为ASD。结果证明CHAT与ADOS高度相关(阳性预测值80%)。只有症状性IS患者会发展为ASD(p = 0.003)。更早的诊断或成功的治疗与ASD发生率降低无关。还识别出了其他危险因素,如高峰失律消失后额颞区存在慢性癫痫放电(p = 0.005和p = 0.007)以及非白种人(p = 0.009)。
仅在症状性IS儿童中观察到ASD。其他临床危险因素包括慢性额颞叶癫痫活动和非白种人。早期诊断和治疗并不能预防IS导致的ASD。然而,有ASD风险的患者可以早期识别,未来应能从早期干预中受益,从而有可能改善其长期预后。