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对一名患有威廉姆斯综合征的早产儿在新生儿重症监护病房的评估与早期干预

Assessment and Early Intervention in the Neonatal Intensive Care Unit for a Preterm Infant With Williams Syndrome.

作者信息

Adamian Ermioni, Trevlakis Emmanouil, Papadopoulou Ourania, Zoi Koukou, Trevlaki Eugenia, Hristara-Papadopoulou Alexandra

机构信息

Department of Physiotherapy, School of Health Sciences, International Hellenic University, Thessaloniki, GRC.

Department of Midwifery, School of Health Sciences, International Hellenic University, Thessaloniki, GRC.

出版信息

Cureus. 2024 Nov 2;16(11):e72883. doi: 10.7759/cureus.72883. eCollection 2024 Nov.

DOI:10.7759/cureus.72883
PMID:39624525
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11610630/
Abstract

Williams syndrome (WS) is a rare genetic disorder that affects multiple body systems and can lead to developmental delays. Early physical therapy intervention may improve neurodevelopment outcomes for newborns with WS. This case report evaluates the impact of physical therapy on the motor and sensory development of a preterm infant with WS following discharge from the neonatal intensive care unit (NICU). Physical therapy assessments were performed at one, three, and five months of age using the Alberta Infant Motor Scale (AIMS). Interventions were individualized to improve muscle strength, reflex integration, and sensory processing, and parents received guidance on home-based activities. Results showed significant growth in weight (from 3460 g to 4900 g) and length (from 51 cm to 60 cm), along with improvements in the head and chest circumference. Motor skills and reflexes, as indicated by AIMS assessments, also demonstrated improvement (p < 0.05). The infant's general health condition also improved, including the frequency and consistency of stools and the success of feeding. This case report demonstrates the effectiveness of physical therapy in improving the motor and sensory development of a newborn with WS syndrome. The combination of individualized techniques and a cooperative environment between health professionals and parents was key to the success of the intervention. Further research is needed to confirm these findings and to determine the long-term effects of early intervention on the development and well-being of these individuals.

摘要

威廉姆斯综合征(WS)是一种罕见的遗传疾病,会影响多个身体系统,并可能导致发育迟缓。早期物理治疗干预可能会改善患有WS的新生儿的神经发育结果。本病例报告评估了物理治疗对一名患有WS的早产儿从新生儿重症监护病房(NICU)出院后的运动和感觉发育的影响。使用艾伯塔婴儿运动量表(AIMS)在1个月、3个月和5个月大时进行了物理治疗评估。干预措施是个性化的,以提高肌肉力量、反射整合和感觉处理能力,并且家长获得了关于家庭活动的指导。结果显示体重显著增加(从3460克增至4900克)和身长显著增加(从51厘米增至60厘米),同时头围和胸围也有所改善。AIMS评估显示的运动技能和反射也有改善(p<0.05)。婴儿的总体健康状况也有所改善,包括大便的频率和稠度以及喂养的成功率。本病例报告证明了物理治疗在改善患有WS综合征的新生儿的运动和感觉发育方面的有效性。个性化技术与健康专业人员和家长之间的合作环境相结合是干预成功的关键。需要进一步研究来证实这些发现,并确定早期干预对这些个体的发育和福祉的长期影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f077/11610630/5aec80dae521/cureus-0016-00000072883-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f077/11610630/380097148a2b/cureus-0016-00000072883-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f077/11610630/2a8e27735a08/cureus-0016-00000072883-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f077/11610630/5aec80dae521/cureus-0016-00000072883-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f077/11610630/380097148a2b/cureus-0016-00000072883-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f077/11610630/2a8e27735a08/cureus-0016-00000072883-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f077/11610630/5aec80dae521/cureus-0016-00000072883-i03.jpg

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