Hemminki Kari, Li Xinjun, Sundquist Kristina, Sundquist Jan
Division of Molecular Genetic Epidemiology, German Cancer Research Centre, Heidelberg, Germany.
Paediatr Perinat Epidemiol. 2007 May;21(3):235-41. doi: 10.1111/j.1365-3016.2007.00798.x.
Cerebral palsy is the commonest cause of severe childhood disability, the aetiology of which is largely unknown. Data on familial aggregation of cerebral palsy are very limited. We defined familial risks for siblings who were hospitalised because of cerebral palsy in Sweden. A nationwide database for neurological diseases was constructed by linking the Multigeneration Register to the Hospital Discharge Register for the years 1987-2001. Standardised hospitalisation ratios (SHRs) were calculated for affected singletons and twins by comparing them with siblings who had no cerebral palsy. A total of 3997 patients were recorded with cerebral palsy. Familial cerebral palsy was uncommon, and it accounted for 1.6% of all cerebral palsy cases. However, for parents who had had one affected child the risk of recurrence in another child was considerably increased. Parents of one affected child had a 4.8-fold risk of having a second affected child, and where the siblings were twins, the risk was 29-fold. These familial risks were particularly high in some clinical subgroups: 17-25 in singletons and 37-155 in twins, including hemiplegia, diplegia and quadriplegia. The remarkably high familial risks are difficult to explain without some contribution of heritable factors. The lack of discordant pairs may suggest that heritable factors are disorder type-specific. Affected concordant sibling pairs should be subjected to molecular studies aiming at identifying the susceptibility gene.
脑瘫是儿童严重残疾最常见的原因,其病因大多未知。关于脑瘫家族聚集性的数据非常有限。我们定义了瑞典因脑瘫住院的兄弟姐妹的家族风险。通过将多代登记册与1987 - 2001年的医院出院登记册相链接,构建了一个全国性的神经疾病数据库。通过将受影响的单胎和双胞胎与没有脑瘫的兄弟姐妹进行比较,计算标准化住院率(SHR)。共记录了3997例脑瘫患者。家族性脑瘫并不常见,占所有脑瘫病例的1.6%。然而,对于有一个患病孩子的父母来说,另一个孩子复发的风险显著增加。有一个患病孩子的父母,第二个孩子患病的风险是4.8倍,而如果兄弟姐妹是双胞胎,风险则为29倍。这些家族风险在一些临床亚组中尤其高:单胎为17 - 25倍,双胞胎为�7 - 155倍,包括偏瘫、双瘫和四肢瘫。如果没有遗传因素的某种作用,如此高的家族风险很难解释。缺乏不一致的双胞胎对可能表明遗传因素是疾病类型特异性的。受影响的一致双胞胎对应该接受旨在识别易感基因的分子研究。