On the twin risk in autism
On the twin risk in autism
复制标题
DOI：
10.1086/342990
复制
发表时间：
2002-10-01
影响因子：
9.8
通讯作者：
Risch, N
中科院分区：
文献类型：
--
作者：
Hallmayer, J;Glasson, EJ;Risch, N
自闭症被许多人认为是最强烈的遗传影响的多因素儿童精神障碍。在没有任何已知的基因或基因的情况下，这一点的主要支持来自家庭和双胞胎研究。最近的两项研究（Greenberg et al. 2001; Betancur et al. 2002）表明，孪生过程本身是自闭症发展的一个重要风险因素。如果这是真的，这将对双胞胎研究的解释产生重大影响。这两项研究比较了受影响的同胞对中受影响的双胞胎对的数量在两个单独的样本的多重家庭的预期值，并报告了大量和显着的双胞胎对过剩。利用我们在西澳大利亚州的流行病学研究数据，我们调查了双胞胎自闭症发病率增加的可能性。所有1980年至1995年出生的自闭症、普格综合征或未另行说明的广泛性发育障碍（PDD-NOS）儿童均被确定。在1980年至1995年期间，西澳大利亚州共有386，637名新生儿，其中双胞胎14名（比率为30.0/1，000），而多胞胎为9，640名（双胞胎比率加权自闭症或PDD儿童人数为每年26.3/1，000）。这些数据显然不支持双胞胎作为自闭症病因学的一个重要风险因素。我们证明，在受影响的同胞对研究中发现的双胞胎的比例高，可以充分解释的一致率在单卵（MZ）双胞胎与兄弟姐妹和家庭规模的分布在研究人群中的高比例。我们的结果与Croen等（2002）在加州和Hultman等（2002）在瑞典的两项类似研究的结果一致。
Autism is considered by many to be the most strongly genetically influenced multifactorial childhood psychiatric disorder. In the absence of any known gene or genes, the main support for this is derived from family and twin studies. Two recent studies (Greenberg et al. 2001; Betancur et al. 2002) suggested that the twinning process itself is an important risk factor in the development of autism. If true, this would have major consequences for the interpretation of twin studies. Both studies compared the number of affected twin pairs among affected sib pairs to expected values in two separate samples of multiplex families and reported a substantial and significant excess of twin pairs. Using data from our epidemiological study in Western Australia, we investigated the possibility of an increased rate of autism in twins. All children born between 1980 and 1995 with autism, Asperger syndrome, or pervasive developmental disorder not otherwise specified (PDD-NOS) were ascertained. Of the 465 children with a diagnosis, 14 were twin births (rate 30.0/1,000) compared to 9,640 children of multiple births out of a total of 386,637 births in Western Australia between 1980 and 1995 (twin rate weighted to number of children with autism or PDD per year 26.3/1,000). These data clearly do not support twinning as a substantial risk factor in the etiology of autism. We demonstrate that the high proportion of twins found in affected-sib-pair studies can be adequately explained by the high ratio of concordance rates in monozygotic (MZ) twins versus siblings and the distribution of family size in the population studied. Our results are in agreement with those of two similar studies by Croen et al. (2002) in California and Hultman et al. (2002) in Sweden.