Developmental and Early Physiotherapy Unit, Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Ankara, Turkey.
Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2021;63(1):167-173. doi: 10.24953/turkjped.2021.01.021.
Cri du chat syndrome (CdCS) is a rare orphan genetic disorder. Infants with CdCS have a neurodevelopmental dysfunction, but there are limited studies on their spontaneous movements or effect of the early interventions in children with CdCS. This study aimed to describe early spontaneous movements and investigate the effects of an early intervention in an infant with the CdCS.
We analyzed the detailed general movements assessment (GMA) of an infant with CdCS at 14 weeks, and the Bayley Scales of Infant and Toddler Development-third edition (Bayley-III) were used for the determining and the follow-up of developmental functioning at 14 weeks, 6 months and 12 months. The infant was included in an early intervention beginning from 14 weeks. Fidgety movements were absent. The motor repertoire appeared significantly reduced, and the movement character was monotonous at 14 weeks. Although the infant achieved some developmental milestones with the early intervention program, the improvements were not reflected in the Bayley-III composite score.
As a consequence, abnormal GMA results, including fidgety movements and concurrent movement patterns, seen in CdCS can be associated with early signs of neurodevelopmental dysfunction. Early intervention programs in infants with genetic disorders could help enable the early achievement of motor milestones.
猫哭综合征（CdCS）是一种罕见的遗传性孤儿病。患有 CdCS 的婴儿存在神经发育功能障碍，但关于他们的自发性运动或 CdCS 儿童早期干预效果的研究有限。本研究旨在描述婴儿的早期自发性运动，并探讨早期干预对患有 CdCS 的婴儿的影响。
我们对一名患有 CdCS 的婴儿在 14 周时进行了详细的全身运动评估（GMA），并在 14 周、6 个月和 12 个月时使用贝利婴幼儿发育量表第三版（Bayley-III）来确定和随访发育功能。婴儿从 14 周开始接受早期干预。不安运动缺失。运动模式明显减少，运动特征在 14 周时单调。尽管婴儿通过早期干预方案取得了一些发育里程碑，但这些进展并未反映在 Bayley-III 综合评分中。
因此，CdCS 中出现的异常 GMA 结果，包括不安运动和并发运动模式，可能与神经发育功能障碍的早期迹象有关。对患有遗传疾病的婴儿进行早期干预方案可能有助于他们尽早实现运动里程碑。
