Ricci D, Chieffo D, Battaglia D, Brogna C, Contaldo I, De Clemente V, Losito E, Dravet Ch, Mercuri E, Guzzetta F
Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
Epilepsy Res. 2015 Jan;109:57-64. doi: 10.1016/j.eplepsyres.2014.10.009. Epub 2014 Oct 28.
A group of five DS patients whose first development was already reported were longitudinally followed up till the scholar age. Beside the general and epileptic clinical evolution, visual and cognitive functions were investigated in order to define their trajectory and possibly provide information about mechanisms of cognitive decline as well as to improve prognosis and tertiary prevention. Neuropsychological assessment was performed with a test battery investigating the development of visual function that progressively integrates into extrastriate components and higher cognitive skills (global form and motion coherence, stereopsis, crowding cards, ABCDEFV battery, general intelligence and specific cognitive tests). Main results showed a fall in visuo-motor items including global motion coherence and specific cognitive skills, presenting a continuity of the visual function deterioration extended from basic abilities to visuo-motor dorsal pathway skills. Moreover, a case whose previous visual and cognitive functions had been in the normal range began showing a visual deterioration with increasing age, followed by the cognitive decline; that prevents from excluding in early ages a poor development in presence of a normal visual function. A dorsal stream vulnerability seems thus shown in this sample of DS patients, like in other genetic syndromes (Williams, Prader Willi. fragile-X), providing new information about mechanisms underlying cognitive decline and suggesting a possible strategy to improve their neuropsychological outcome. Larger cohorts may confirm whether these findings are part of a specific pattern of DS neuropsychological phenotype.
一组五名其首次发育情况已被报道的唐氏综合征患者被纵向随访至学龄期。除了一般和癫痫临床进展外，还对视觉和认知功能进行了研究，以确定其发展轨迹，并可能提供有关认知衰退机制的信息，以及改善预后和三级预防。使用一组测试对神经心理进行评估，这些测试调查了视觉功能的发展，该功能逐渐整合到纹外成分和更高的认知技能中（全局形式和运动连贯性、立体视觉、拥挤卡片、ABCDEFV测试组、一般智力和特定认知测试）。主要结果显示，包括全局运动连贯性和特定认知技能在内的视运动项目有所下降，呈现出视觉功能恶化的连续性，从基本能力扩展到视运动背侧通路技能。此外，一名先前视觉和认知功能处于正常范围的患者随着年龄增长开始出现视觉恶化，随后出现认知衰退；这使得在早期不能排除在视觉功能正常的情况下发育不良的可能性。因此，在这个唐氏综合征患者样本中似乎显示出背侧流易损性，就像在其他遗传综合征（威廉姆斯综合征、普拉德-威利综合征、脆性X综合征）中一样，这为认知衰退的潜在机制提供了新信息，并提出了一种可能改善其神经心理结果的策略。更大的队列研究可能会证实这些发现是否是唐氏综合征神经心理表型特定模式的一部分。
