Burkhardt Luise, Lobitz Stephan, Koustenis Elisabeth, Rueckriegel Stefan Mark, Hernáiz Driever Pablo
Klinik für Pädiatrie m.S. Onkologie/Hämatologie/KMT, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.
Present address: Universitätsklinikum S-H. Medizinische Klinik II und Poliklinik m.S. Onkologie/Hämatologie, Arnold-Heller-Straße 3, 24105, Kiel, Germany.
Ann Hematol. 2017 Feb;96(2):199-213. doi: 10.1007/s00277-016-2861-1. Epub 2016 Oct 29.
Cerebrovascular disease is an important feature of pediatric sickle cell disease (SCD) and may lead to cognitive and motor impairment. Our cross-sectional study examined the incidence and severity of these impairments in a pediatric cohort without clinical cerebrovascular events from Berlin of mixed ethnic origin. Thirty-two SCD patients (mean age 11.14 years, range 7.0-17.25 years; males 14) were evaluated for full-scale intelligence (IQ) (German version WISC-III), fine motor function (digital writing tablet), and executive function (planning, attention, working memory, and visual-spatial abilities) with the Amsterdam Neuropsychological Tasks (ANT) program and the Tower of London (ToL). Data on clinical risk factors were retrieved from medical records. Full-scale IQ of patients was preserved, whereas performance IQ was significantly reduced (91.19 (SD 12.17) d = 0.7, p = 0.007). SCD patients scored significantly lower than healthy peers when tested for executive and fine motor functions, e.g., planning time in the ToL (6.73 s (SD 3.21) vs. 5.9 s in healthy peers (SD 2.33), d = 0.5, p = <0.001) and frequency on the writing tablet (mean z score -0.79, d = 0.7, p < 0.001). No clinical risk factors were significantly associated with incidence and severity of cognitive and motor deficits. Despite the preservation of full-scale IQ, our SCD cohort of mixed origin exhibited inferior executive abilities and reduced fine motor skills. Our study is limited by the small size of our cohort as well as the lack for control of sociodemographic and socioeconomic factors modulating higher functions but highlights the need for early screening, prevention, and specific interventions for these deficits.
脑血管疾病是小儿镰状细胞病（SCD）的一个重要特征，可能导致认知和运动障碍。我们的横断面研究调查了来自柏林的一个混合种族小儿队列中这些障碍的发生率和严重程度，这些患儿没有临床脑血管事件。对32例SCD患者（平均年龄11.14岁，范围7.0 - 17.25岁；男性14例）进行了全面智力（IQ）（德文版WISC - III）、精细运动功能（数字书写板）和执行功能（计划、注意力、工作记忆和视觉空间能力）评估，使用阿姆斯特丹神经心理学任务（ANT）程序和伦敦塔（ToL）。从病历中获取临床危险因素数据。患者的全面IQ保持正常，而操作IQ显著降低（91.19（标准差12.17），d = 0.7，p = 0.007）。在执行功能和精细运动功能测试中，SCD患者的得分显著低于健康同龄人，例如，ToL中的计划时间（6.73秒（标准差3.21），而健康同龄人中为5.9秒（标准差2.33），d = 0.5，p = <0.001）以及书写板上的频率（平均z分数 - 0.79，d = 0.7，p < 0.001）。没有临床危险因素与认知和运动缺陷的发生率及严重程度显著相关。尽管全面IQ保持正常，但我们这个混合种族的SCD队列表现出较差的执行能力和降低的精细运动技能。我们的研究受到队列规模小以及缺乏对调节高级功能的社会人口统计学和社会经济因素控制的限制，但突出了对这些缺陷进行早期筛查、预防和特定干预的必要性。
