Division of Neonatology, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
Division of Neonatology, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
Res Dev Disabil. 2019 May;88:16-21. doi: 10.1016/j.ridd.2019.01.012. Epub 2019 Feb 28.
Prader-Willi syndrome (PWS) is a rare genetic disorder. Infants with PWS show a neurodevelopmental dysfunction which entails a delayed motor and language development, but studies on their spontaneous movements (i.e. general movements) or pre-linguistic speech-language development before 6 months of age are missing so far.
To describe early motor and pre-linguistic verbal development in an infant with PWS.
Prospective case report; in addition to the assessment of general movements and the concurrent movement repertoire, we report on early verbal forms, applying the Stark Assessment of Early Vocal Development-Revised.
General movements were abnormal on days 8 and 15. No fidgety movements were observed at 11 weeks; they only emerged at 17 weeks and lasted until at least 27 weeks post-term. The movement character was monotonous, and early motor milestones were only achieved with a delay. At 27 weeks the infant produced age-adequate types of vocalisations. However, none of the canonical-syllable vocalisations that typically emerge at that age were observed. Early vocalisations appeared monotonous and with a peculiarly harmonic structure.
Early motor and pre-linguistic verbal behaviours were monotonous in an infant with PWS throughout his first 6 months of life. This suggests that early signs of neurodevelopmental dysfunction (i.e. abnormal general movements) might already be diagnosed in infants with PWS during their first weeks of life, potentially enabling us to diagnose and intervene at an early stage.
普拉德-威利综合征（PWS）是一种罕见的遗传性疾病。患有 PWS 的婴儿表现出神经发育功能障碍，这导致运动和语言发育迟缓，但目前还缺乏对其 6 个月前自发性运动（即一般性运动）或前语言言语发育的研究。
描述患有 PWS 的婴儿的早期运动和前语言言语发育情况。
前瞻性病例报告；除了评估一般性运动和同时的运动表现外，我们还报告了早期的言语形式，应用了经过修订的斯塔克早期发声发展评估。
婴儿第 8 天和第 15 天的一般性运动异常。11 周时没有观察到烦躁不安的动作；它们只在 17 周时出现，一直持续到至少 27 周足月。运动特征单调，早期运动里程碑仅延迟达成。在 27 周时，婴儿产生了与年龄相符的发声类型。然而，没有观察到该年龄段通常出现的典型的规则音节发声。早期的发声显得单调，具有奇特的和声结构。
患有 PWS 的婴儿在其生命的前 6 个月中，其早期运动和前语言言语行为一直单调。这表明神经发育功能障碍的早期迹象（即异常的一般性运动）可能已经在患有 PWS 的婴儿生命的最初几周内被诊断出来，这可能使我们能够在早期进行诊断和干预。
