Catholic University, Child Neurology and Psychiatry, Rome, Italy.
Epilepsy Res. 2011 Jan;93(1):73-9. doi: 10.1016/j.eplepsyres.2010.10.015. Epub 2010 Nov 24.
Aim of the study was to describe prospectively the early neuropsychological evolution including the first pre-cognitive stages of the Severe Myoclonic Epilepsy in Infancy (SMEI) or Dravet syndrome. Five cases, four of whom since before a diagnostic evidence of the Dravet syndrome, were followed up. Full clinical assessment including developmental, visual function and behaviour assessments were serially performed. In four cases, a variable onset age of cognitive decline assessed with developmental scales was preceded some months before by an impairment of visual function; the remaining patient during all the course of follow-up till 51 months of age showed a normal development without visual impairment. A cognitive decline with variable onset was generally confirmed in Dravet syndrome. The previous early impairment of visual function seems to herald the cognitive decline and provides useful prognostic information; furthermore, it possibly suggests some clues for a better understanding of the mechanisms of cognitive deterioration in this syndrome.
研究目的在于前瞻性描述包括婴儿严重肌阵挛性癫痫（SMEI）或德雷夫特综合征在内的早期神经认知演变。对五例患者进行了随访，其中四例在被诊断为德雷夫特综合征之前就出现了这种情况。连续进行了全面的临床评估，包括发育、视觉功能和行为评估。在四例患者中，通过发育量表评估认知能力下降的起始年龄，在几个月前，视觉功能已经受损；其余患者在整个 51 个月的随访过程中，视觉功能正常，发育正常。德雷夫特综合征中通常可以确认认知能力下降的起始年龄存在差异。先前的视觉功能早期损伤似乎预示着认知能力的下降，并提供了有用的预后信息；此外，它可能为更好地理解该综合征认知恶化的机制提供了一些线索。
