Butler Merlin G, Miller Jennifer L, Forster Janice L
Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, United States.
Department of Pediatrics, University of Florida School of Medicine, Gainesville, FL, United States.
Curr Pediatr Rev. 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925.
Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both 15s from the mother (about 35%). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. Key findings include infantile hypotonia, a poor suck, failure to thrive and hypogonadism/hypogenitalism. Short stature and small hands/feet due to growth and other hormone deficiencies, hyperphagia and marked obesity occur in early childhood, if uncontrolled. Cognitive and behavioral problems (tantrums, compulsions, compulsive skin picking) are common.
Hyperphagia and obesity with related complications are major causes of morbidity and mortality in PWS. This report will describe an accurate diagnosis with determination of specific genetic subtypes, appropriate medical management and best practice treatment approaches.
An extensive literature review was undertaken related to genetics, clinical findings and laboratory testing, clinical and behavioral assessments and summary of updated health-related information addressing the importance of early PWS diagnosis and treatment. A searchable, bulleted and formatted list of topics is provided utilizing a Table of Contents approach for the clinical practitioner.
Physicians and other health care providers can use this review with clinical, genetic and treatment summaries divided into sections pertinent in the context of clinical practice. Frequently asked questions by clinicians, families and other interested participants or providers will be addressed.
普拉德-威利综合征（PWS）是一种神经发育性基因组印记障碍，其特征是父源15号染色体q11-q13区域的基因缺乏表达，通常是由于父源15q11-q13缺失（约60%）或母源单亲二体15或两条15号染色体均来自母亲（约35%）。一个印记中心控制着15号染色体q11-q13区域印记基因的表达。主要表现包括婴儿期肌张力低下、吸吮无力、生长发育迟缓以及性腺功能减退/生殖器发育不全。如果不加以控制，由于生长激素和其他激素缺乏，儿童早期会出现身材矮小、手脚短小、食欲亢进和明显肥胖。认知和行为问题（发脾气、强迫行为、强迫性皮肤搔抓）很常见。
食欲亢进和肥胖及其相关并发症是PWS发病和死亡的主要原因。本报告将描述PWS的准确诊断，包括确定特定的基因亚型、适当的医学管理和最佳治疗方法。
对与遗传学、临床发现、实验室检测、临床和行为评估以及最新健康相关信息总结等方面进行了广泛的文献综述，强调了PWS早期诊断和治疗的重要性。为临床医生提供了一个可搜索的、带项目符号且格式化的主题列表，采用目录形式呈现。
医生和其他医疗保健提供者可以参考本综述，其中临床、遗传和治疗总结分为与临床实践相关的部分。还将解答临床医生及相关人员经常提出的问题。
