Dev Med Child Neurol. 2010 Dec;52(12):1164-6. doi: 10.1111/j.1469-8749.2010.03811.x. Epub 2010 Oct 21.
the aim of this study was to evaluate the conditions in which infantile spasms are diagnosed and their possible impact on the course of the disease.
we carried out a retrospective study of the reasons for delayed treatment of infantile spasms (treatment lag) in western France over the period 1990-2003. A total of 156 infants, 87 male (55%) and 69 female (45%), with infantile spasms were identified, in 45 (29%) of whom the spasms were symptomatic. They were aged 1 week to 24 months (median 20wks, mean 22.4, SD 13.3) at first symptoms. To be included in the study, participants had to exhibit a combination of clusters of spasms, altered psychomotor development, and paroxysmal electroencephalographic (EEG) activity, as defined by the International League Against Epilepsy. We did not restrict onset to the first year of life as infantile spasms may begin after the age of 1 year.
the mean time from appearance of first symptom to first visit to a medical practitioner was 4 weeks. In 14% of cases, the reason for the visit was non-neurological, the parents having noticed no neurological symptoms before the visit. The diagnosis was missed at first visit in 38% of the cases examined, with the incorrect diagnosis mostly commonly being gastro-oesophageal reflux or no abnormality. This increased to 74% after a second visit, in all cases based on an abnormal EEG. However, in 5% the time between first presentation and diagnosis was over 2 months and up to 10 visits were required. The time lag between first presentation and diagnosis was significantly longer for individuals presenting to general practitioners than to paediatricians (p=0.03). Response to treatment was poorer in those in whom diagnosis was delayed.
various steps could be taken to reduce treatment lag such as training general practitioners, informing the parents of individuals at risk about the possibility of infantile spasms, and recommending that EEG is performed before brain imaging in children with unexplained psychomotor delay.
本研究旨在评估婴儿痉挛症的诊断条件及其对疾病进程的可能影响。
我们对法国西部 1990-2003 年婴儿痉挛症治疗延迟(治疗延误)的原因进行了回顾性研究。共确定了 156 名患有婴儿痉挛症的婴儿,其中 87 名男性(55%)和 69 名女性(45%),45 名(29%)痉挛为症状性。他们的首次症状年龄为 1 周至 24 个月(中位数 20 周,平均 22.4,SD 13.3)。为了纳入研究,参与者必须表现出痉挛发作、精神运动发育改变和阵发性脑电图(EEG)活动的组合,如国际抗癫痫联盟所定义的。我们没有将发病限制在生命的第一年,因为婴儿痉挛症可能在 1 岁后开始。
从首次出现症状到首次就诊的平均时间为 4 周。在 14%的病例中,就诊的原因是非神经科的,父母在就诊前没有注意到任何神经科症状。在检查的 38%的病例中,首次就诊时漏诊,最常见的错误诊断是胃食管反流或无异常。在第二次就诊时,所有病例均基于异常脑电图,这一比例增加到 74%。然而,在 5%的病例中,从首次就诊到确诊的时间超过 2 个月,需要多达 10 次就诊。与儿科医生相比,普通科医生就诊的个体的就诊延误时间明显更长(p=0.03)。诊断延迟的个体对治疗的反应较差。
可以采取各种措施来减少治疗延误,例如培训普通科医生、向有婴儿痉挛症风险的个体的父母告知婴儿痉挛症的可能性,并建议在儿童出现不明原因的精神运动发育迟缓时,先进行 EEG 检查,然后再进行脑部成像。