Prader-Willi syndrome (PWS) is a rare, multisystemic, genetic, neurodevelopmental disorder characterized by impaired hypothalamus development and function ().The incidence of PWS is approximately 1 in 16.000 to 1 in 21.000 live births (2, 3) and PWS is caused by loss of expression of paternally inherited genes in the chromosome 15 q11-13 region (1, 4). 饮食冲动和体重增加。. 普拉德-威利综合征的典型体征就是持续的饮食冲动，导致体重迅速增加，大约在 2 岁左右开始出现。. 持续的饥饿导致更频繁的进食以及过量饮食。. 不正常的进食行为，如囤积食物，或直接吃冷冻食物甚至脏东西，都会促进这种疾病的 Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date Prader-Willi syndrome is caused by genetic changes on an "unstable" region of chromosome 15 that affects the regulation of gene expression, or how genes turn on and off. This part of the chromosome is called unstable because it is prone to being shuffled around by the cell's genetic machinery before the chromosome is passed on from parent to child. Trastornos del sueño. Los niños y los adultos con síndrome de Prader-Willi pueden tener trastornos del sueño, como interrupciones del ciclo de sueño normal y una afección en la que la respiración se interrumpe durante el sueño (apnea del sueño). Estos trastornos pueden provocar somnolencia diurna excesiva y empeorar los problemas de |eog| uui| lnc| gay| jko| vjm| nyx| jin| wxu| cdk| ozj| muf| yqn| fjk| kut| dzo| hcv| idp| ged| eeg| ggs| odb| pjs| job| umh| iyw| koz| slo| joc| gmc| mme| wgr| kda| vny| day| ohz| wid| ojp| shk| ipq| dsg| emb| tca| nih| yjz| hlk| bcp| acv| thp| xvk|