Rebecka Keijser, Jakob Åsberg Johnels, Marika Habbe, Paul Lichtenstein, Henrik Larsson, Sebastian Lundström, Mark J. Taylor, Kristiina Tammimies
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引用次数: 0
Abstract
Background
Research on genetic and environmental influences on speech and/or language difficulties (SaLD) is sparse, with inconsistent heritability estimates. We aimed to estimate the prevalence of parental reported SaLD and the relative contributions of genetic and environmental factors for the phenotype using a Swedish population-based twin sample. We hypothesized that there would be a stronger genetic than environmental effect on SaLD.
Methods
Data were collected from The Child and Adolescent Twin Study in Sweden. The study sample included 16,774 twin pairs (16,946 males, 16,602 females), of which 5141 were monozygotic, 5861 dizygotic (DZ), and 5772 opposite-sex DZ pairs. The language items in the Autism–Tics, Attention-Deficit Hyperactivity Disorder, and other Comorbidities inventory were used to categorize individuals as having parental-reported SaLD. A classical twin design was used to estimate the relative contribution of genetic and environmental factors to the liability of SaLD.
Results
The prevalence of SaLD was 7.85% (95% confidence interval (CI) [7.57%–8.15%]) and 7.27% (95% CI [6.99%–7.55%]) when excluding individuals with autism and intellectual disability (ID). We also found that SaLD were significantly more prevalent in males than females with a ratio of 2:1. The heritability was estimated to be 75% (95% CI [67%–83%]) for SaLD. Shared environment played a significant role with an estimated contribution of 22% (95% CI [14%–30%]). The heritability estimate was reduced to 70% but with overlapping CI when excluding individuals with autism and ID.
Conclusions
We provide evidence that SaLD is common in the population and under strong genetic influence. Future studies should focus on mapping the genetic architecture of SaLD and related disorders.
有关遗传和环境对言语和/或语言障碍(SaLD)影响的研究很少,对遗传率的估计也不一致。我们的目的是通过瑞典人口中的双胞胎样本,估计父母报告的SaLD患病率,以及遗传和环境因素对表型的相对贡献。我们假设,遗传因素对SaLD的影响要强于环境因素。研究样本包括16774对双胞胎(男性16946对,女性16602对),其中单卵双胞胎5141对,双卵双胞胎5861对,异性双卵双胞胎5772对。自闭症-抽动障碍、注意缺陷多动障碍和其他合并症量表中的语言项目被用来对父母报告的SaLD患者进行分类。在排除自闭症和智力障碍(ID)患者后,SaLD的患病率为7.85%(95%置信区间[7.57%-8.15%]),而SaLD的患病率为7.27%(95%置信区间[6.99%-7.55%])。我们还发现,SaLD 在男性中的发病率明显高于女性,比例为 2:1。据估计,SaLD 的遗传率为 75%(95% CI [67%-83%])。共同环境起着重要作用,估计占 22%(95% CI [14%-30%])。我们提供的证据表明,SaLD在人群中很常见,并受到遗传因素的强烈影响。未来的研究应侧重于绘制SaLD及相关疾病的遗传结构图。