School of Public Health, University of São Paulo, São Paulo, Brazil.
Research Unit iDN, Interdisciplinary Developmental Neuroscience, Department of Phoniatrics, Medical University of Graz, Graz, Austria.
Res Dev Disabil. 2017 Aug;67:1-8. doi: 10.1016/j.ridd.2017.05.006. Epub 2017 Jun 3.
Even though Down syndrome is the most common chromosomal cause of intellectual disability, studies on early development are scarce.
To describe movements and postures in 3- to 5-month-old infants with Down syndrome and assess the relation between pre- and perinatal risk factors and the eventual motor performance.
Exploratory study; 47 infants with Down syndrome (26 males, 27 infants born preterm, 22 infants with congenital heart disease) were videoed at 10-19 weeks post-term (median=14 weeks). We assessed their Motor Optimality Score (MOS) based on postures and movements (including fidgety movements) and compared it to that of 47 infants later diagnosed with cerebral palsy and 47 infants with a normal neurological outcome, matched for gestational and recording ages.
The MOS (median=13, range 10-28) was significantly lower than in infants with a normal neurological outcome (median=26), but higher than in infants later diagnosed with cerebral palsy (median=6). Fourteen infants with Down syndrome showed normal fidgety movements, 13 no fidgety movements, and 20 exaggerated, too fast or too slow fidgety movements. A lack of movements to the midline and several atypical postures were observed. Neither preterm birth nor congenital heart disease was related to aberrant fidgety movements or reduced MOS.
The heterogeneity in fidgety movements and MOS add to an understanding of the large variability of the early phenotype of Down syndrome. Studies on the predictive values of the early spontaneous motor repertoire, especially for the cognitive outcome, are warranted.
The significance of this exploratory study lies in its minute description of the motor repertoire of infants with Down syndrome aged 3-5 months. Thirty percent of infants with Down syndrome showed age-specific normal fidgety movements. The rate of abnormal fidgety movements (large amplitude, high/slow speed) or a lack of fidgety movements was exceedingly high. The motor optimality score of infants with Down syndrome was lower than in infants with normal neurological outcome but higher than in infants who were later diagnosed with cerebral palsy. Neither preterm birth nor congenital heart disease were related to the motor performance at 3-5 months.
尽管唐氏综合征是智力障碍最常见的染色体病因，但对于其早期发育的研究却很少。
描述 3 至 5 个月大的唐氏综合征婴儿的运动和姿势，并评估产前和围产期危险因素与最终运动表现之间的关系。
探索性研究；47 名唐氏综合征婴儿（男 26 名，早产儿 27 名，先天性心脏病 22 名）在矫正月龄 10-19 周（中位数=14 周）时进行录像。我们根据姿势和运动（包括烦躁不安的运动）评估他们的运动优化评分（MOS），并将其与后来被诊断为脑瘫的 47 名婴儿和 47 名具有正常神经发育结果的婴儿进行比较，这些婴儿按胎龄和记录年龄匹配。
MOS（中位数=13，范围 10-28）明显低于具有正常神经发育结果的婴儿（中位数=26），但高于后来被诊断为脑瘫的婴儿（中位数=6）。14 名唐氏综合征婴儿表现出正常的烦躁不安运动，13 名婴儿没有烦躁不安运动，20 名婴儿表现出过度、过快或过慢的烦躁不安运动。观察到缺乏中线运动和几种异常姿势。早产或先天性心脏病与异常烦躁不安运动或 MOS 降低无关。
烦躁不安运动和 MOS 的异质性增加了对唐氏综合征早期表型的大量变异性的理解。需要研究早期自发运动模式的预测值，特别是对认知结果的预测值。
本研究的意义在于对 3-5 个月大的唐氏综合征婴儿运动模式的细微描述。30%的唐氏综合征婴儿表现出特定年龄的正常烦躁不安运动。异常烦躁不安运动（大振幅、高/慢速度）或缺乏烦躁不安运动的发生率极高。唐氏综合征婴儿的运动优化评分低于具有正常神经发育结果的婴儿，但高于后来被诊断为脑瘫的婴儿。早产或先天性心脏病与 3-5 个月时的运动表现无关。
