Flax Judy F, Realpe-Bonilla Teresa, Hirsch Linda S, Brzustowicz Linda M, Bartlett Christopher W, Tallal Paula
Center for Molecular and Behavioral Neuroscience, Rutgers, The State University of New Jersey, Newark 07102, USA.
J Speech Lang Hear Res. 2003 Jun;46(3):530-43. doi: 10.1044/1092-4388(2003/043).
Two family aggregation studies report the occurrence and co-occurrence of oral language impairments (LIs) and reading impairments (RIs). Study 1 examined the occurrence (rate) of LI and RI in children with specific language impairment (SLI probands), a matched control group, and all nuclear family members. Study 2 included a larger sample of SLI probands, as well as their nuclear and extended family members. Probands and their family members who met specific criteria were classified as language and/or reading impaired based on current testing. In Study 1, the rates of LI and RI for nuclear family members (excluding probands) were significantly higher than those for control family members. In the SLI families, affected family members were more likely to have both LI and RI than either impairment alone. In Study 2, 68% of the SLI probands also met the diagnostic classification for RI. The language and RI rates for the other family members, excluding probands, were 25% and 23% respectively, with a high degree of co-occurrence of LI and RI (46%) in affected individuals. Significant sex ratio differences were found across generations in the families of SLI probands. There were more male than female offspring in these families, and more males than females were found to have both LIs and RIs. Results demonstrate that when LIs occur within families of SLI probands, these impairments generally co-occur with RIs. Our data are also consistent with prior findings that males show impairments more often than females.
两项家族聚集性研究报告了口语障碍（LI）和阅读障碍（RI）的发生及共现情况。研究1调查了特定语言障碍（SLI先证者）、匹配的对照组以及所有核心家庭成员中LI和RI的发生率。研究2纳入了更大样本的SLI先证者及其核心家庭成员和大家庭成员。根据当前测试，符合特定标准的先证者及其家庭成员被分类为语言和/或阅读障碍。在研究1中，核心家庭成员（不包括先证者）的LI和RI发生率显著高于对照家庭成员。在SLI家庭中，受影响的家庭成员同时患有LI和RI的可能性高于仅患其中一种障碍的情况。在研究2中，68%的SLI先证者也符合RI的诊断分类。不包括先证者的其他家庭成员的语言和RI发生率分别为25%和23%，受影响个体中LI和RI的共现率很高（46%）。在SLI先证者的家庭中，各代之间存在显著的性别比例差异。这些家庭中的男性后代多于女性后代，且发现患有LI和RI的男性多于女性。结果表明，当LI出现在SLI先证者的家庭中时，这些障碍通常与RI共现。我们的数据也与之前的研究结果一致，即男性比女性更常出现障碍。
