Centre for Chronic Disease Prevention and Management, College of Health and Biomedicine, Victoria University, St. Albans Campus, 3021, Australia.
Centre for Chronic Disease Prevention and Management, College of Health and Biomedicine, Victoria University, St. Albans Campus, 3021, Australia.
Neurosci Biobehav Rev. 2015 Dec;59:155-72. doi: 10.1016/j.neubiorev.2015.10.003. Epub 2015 Oct 22.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder resulting from a deletion in the expression of the paternally derived alleles in the region of 15q11-q13. PWS has a prevalence rate of 1:10,000-1:30,000 and is characterized by marked endocrine abnormalities including growth hormone deficiency and raised ghrelin levels. The hyperphagic phenotype in PWS is established over a number of phases and is exacerbated by impaired satiety, low energy expenditure and intellectual difficulties including obsessive-compulsive disorder and/or autistic behaviours. Clinical management in PWS typically includes familial/carer restriction and close supervision of food intake. If the supervision of food is left unmanaged, morbid obesity eventuates, central to the risk of cardiorespiratory disorder. None of the current appetite management/intervention strategies for PWS include pharmacological treatment, though recent research shows some promise. We review the established aberrant genetics and the endocrine and neuronal attributes which may determine disturbed regulatory processes in PWS. Focusing on clinical trials for appetite behaviours in PWS, we define the effectiveness of pharmacological treatments with a view to initiating and focusing research towards possible targets for modulating appetite in PWS.
普拉德-威利综合征（PWS）是一种神经发育障碍，由 15q11-q13 区域父源等位基因表达缺失引起。PWS 的患病率为 1:10000-1:30000，其特征为明显的内分泌异常，包括生长激素缺乏和胃饥饿素水平升高。PWS 的暴食表型经过多个阶段发展，并因饱腹感受损、低能量消耗和智力困难（包括强迫症和/或自闭症行为）而加剧。PWS 的临床管理通常包括家庭/照顾者限制和密切监督食物摄入。如果不管理食物摄入，就会导致病态肥胖，这是心血管疾病风险的关键。目前用于治疗 PWS 的食欲管理/干预策略都不包括药物治疗，尽管最近的研究显示出一些希望。我们回顾了已确定的异常遗传学以及内分泌和神经元特征，这些特征可能决定了 PWS 中调节过程的紊乱。我们关注 PWS 中食欲行为的临床试验，以确定药物治疗的有效性，以期为调节 PWS 中的食欲确定可能的靶点，并开展相关研究。
