Akefeldt A, Anvret M, Grandell U, Nordlinder R, Gillberg C
Department of Clinical Neuroscience, Annedalskliniken, Göteborg, Sweden.
Dev Med Child Neurol. 1995 Dec;37(12):1101-9. doi: 10.1111/j.1469-8749.1995.tb11971.x.
The purpose of this study was to ascertain whether parental age and parental pre-conceptional exposure to various agents differentiated children with Prader-Willi syndrome (PWS) from obese children without PWS. Two groups of patients under 25 years of age were studied, 15 persons with PWS, and 13 with PWS-like symptoms. In the PWS group deletions were detected on chromosome 15q11-q13 and parents were older. The parents' occupational and recreational exposure to environmental toxins was recorded and correlated to the clinical diagnosis, genetics and behaviour characteristics. Paternal exposure to gasoline/petrol was significantly higher in the PWS group and is suggested as a possible important factor in the aetiology of PWS.
本研究的目的是确定父母年龄以及父母受孕前接触各种因素是否能区分普拉德-威利综合征（PWS）患儿与无PWS的肥胖儿童。研究了两组25岁以下的患者，15名患有PWS，13名有类似PWS的症状。在PWS组中，检测到15号染色体q11-q13区域存在缺失，且父母年龄较大。记录了父母在职业和娱乐活动中接触环境毒素的情况，并将其与临床诊断、遗传学和行为特征进行关联。PWS组中父亲接触汽油的情况显著更高，这被认为可能是PWS病因中的一个重要因素。
