Holland A J, Whittington J E, Butler J, Webb T, Boer H, Clarke D
Section of Developmental Psychiatry, Department of Psychiatry, University of Cambridge.
Psychol Med. 2003 Jan;33(1):141-53. doi: 10.1017/s0033291702006736.
Prader-Willi syndrome (PWS) is a genetic disorder resulting in obesity, short stature, cryptorchidism, learning disabilities (mental retardation) and severe neonatal hypotonia. Associated with the syndrome are a number of behaviours that are sufficiently distinctive that the syndrome is considered to have a specific 'behavioural phenotype'.
Through multiple sources we attempted to identify all people with PWS living in one region in the U K. This cohort was augmented by people with PWS from other regions, and a contrast group of people with learning disabilities of varied aetiologies. The main carers were interviewed, using structured and semi-structured interview schedules, to establish the presence and severity of specific behaviours, and PWS diagnostic criteria. The intellectual functioning and attainments of all were determined. Blood samples were obtained for genetic diagnosis from all consenting participants.
Although excessive eating was recognized as a potentially severe problem in those with PWS, it was almost universally controlled by food restriction, and therefore not seen as a 'problem behaviour'. Those with PWS differed from a learning disabled group of other aetiologies in the prevalence rates of skin picking, temper tantrums, compulsive behaviours and mood fluctuations, and also in the profile of their adaptive behaviours.
The study confirms the distinct behavioural phenotype of PWS. Specific behaviours occurred significantly more frequently in PWS, compared with an age and BMI matched learning disabled comparison group. A factor analysis of the behaviours involved resulted in three factors that we hypothesized to be independent, and to arise from different mechanisms.
普拉德-威利综合征（PWS）是一种遗传性疾病，会导致肥胖、身材矮小、隐睾症、学习障碍（智力迟钝）和严重的新生儿肌张力减退。与该综合征相关的还有一些行为，这些行为具有足够的独特性，以至于该综合征被认为具有特定的“行为表型”。
我们通过多种途径试图确定居住在英国一个地区的所有PWS患者。来自其他地区的PWS患者以及病因各异的学习障碍患者组成了这个队列。主要照顾者接受了访谈，采用结构化和半结构化访谈提纲，以确定特定行为的存在和严重程度以及PWS诊断标准。确定了所有人的智力功能和学业成绩。从所有同意参与的参与者那里采集了血样用于基因诊断。
尽管过度进食在PWS患者中被认为是一个潜在的严重问题，但几乎普遍通过食物限制得到控制，因此不被视为“问题行为”。PWS患者在皮肤搔抓、发脾气、强迫行为和情绪波动的发生率以及适应性行为方面与其他病因的学习障碍组有所不同。
该研究证实了PWS独特的行为表型。与年龄和体重指数匹配的学习障碍对照组相比，特定行为在PWS患者中出现的频率明显更高。对所涉及行为的因素分析得出了三个因素，我们假设它们是独立的，且源于不同的机制。
