Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review

被引：0
作者：
Yu-Yu Jin
Fei-Hong Luo
机构：
[1] Children’s Hospital of Fudan University,Department of Pediatric Endocrinology and Inherited Metabolic Diseases
[2] National Children’s Medical Center,undefined
来源：
European Journal of Pediatrics | 2024年 / 183卷
关键词：
Prader-Willi syndrome; Psychomotor development; Cognitive function; Language development; Mental and motor development; Growth hormone;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Prader-Willi syndrome (PWS) is a rare genetic disorder caused by the loss of imprinted gene expression on the paternal chromosome 15q11-q13. PWS is characterized by varying degrees of early psychomotor developmental deficits, primarily in cognition, language, and motor development. This review summarizes the early mental cognitive development, language development, and motor development in patients with PWS, compares the correlation of genotype with phenotype, and provides an update regarding the effects and concerns related to potential main side effects of treatment with recombinant human growth hormone on early psycho-cognitive and motor function development along with the linear growth and body composition of children with PWS.
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页码：1021 / 1036
页数：15
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