Background and Aim Children with Developmental Language Disorder (DLD) are at an increased risk to develop behaviors associated with Autism Spectrum Disorder (ASD). The relationship between early language difficulties and the occurrence of ASD-related behaviors in DLD is poorly understood. One factor that may hinder progress in understanding this relationship is the etiological heterogeneity of DLD. We therefore study this relationship in an etiologically homogeneous group of children, who share phenotypic characteristics with children with DLD: children with the 22q11.2 Deletion Syndrome (22q11DS). We compare children with 22q11DS, to children with DLD and age-matched typically developing children (TD). Method 44 children with 22q11DS, 65 children with DLD and 81 TD children, between 3.0-6.5 years old, participated in a longitudinal cohort study that included a baseline measure and a follow-up measure with a 1-year interval. A parental questionnaire (SRS-2) was used to measure the incidence of behaviors in two key behavioral domains associated with ASD: Social Communication and Interaction and Restricted Repetitive Behaviors and Interests. At baseline, we assessed children's expressive and receptive language abilities as well as their intellectual functioning with standardized tests. We compared the distribution of ASD-related behaviors between the three groups. We used regression analyses to investigate whether language abilities at baseline predict ASD-related behavior at follow-up, accounting for ASD-related behavior at baseline, demographic variables and intellectual functioning. Results Both the children with 22q11DS and the children with DLD displayed significantly more ASD-related behaviors than the TD children. Over 30% of children in both clinical groups had scores exceeding the subclinical threshold for ASD in both behavioral domains. Both in 22q11DS and DLD, baseline receptive language scores were negatively correlated with ASD-related behaviors 1 year later, when controlling for baseline SRS-scores. However, this association was statistically significant only in children with 22q11DS, even when controlled for IQ-scores, and it was significantly stronger as than in the TD group. The strength of the association did not differ significantly between 22q11DS and DLD. Conclusion Both children with 22q11DS and children with DLD present with elevated rates of ASD-related behaviors at a preschool-age. Only in children with 22q11DS we observed that weaker receptive language skills were related to increased behavioral problems in the domain of social communication and interaction one year later. Implications Our findings indicate that relations between early language impairment and other behavioral phenotypes may be more feasible to detect in a subgroup of children with a homogeneous etiology, than in a group of children with a heterogeneous etiology (such as children with DLD). Our results in 22q11DS reveal that receptive language is especially important in predicting the occurrence of ASD-related behaviors. Future research is needed to determine to what extent receptive language predicts the occurrence of ASD-related behaviors in children with DLD, especially among those children with DLD with the weakest receptive language. Clinically, screening for ASD-related behaviors in children with developmental language difficulties is recommended from a young age, especially among children with receptive language difficulties.

中文翻译：

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发育性语言障碍儿童和 22q11.2 缺失综合征儿童与自闭症谱系障碍相关的行为。

背景和目标 患有发育性语言障碍 (DLD) 的儿童出现与自闭症谱系障碍 (ASD) 相关的行为的风险增加。DLD 患者早期语言困难与 ASD 相关行为之间的关系尚不清楚。DLD 病因的异质性是可能阻碍理解这一关系进展的一个因素。因此，我们在病因学上同质的儿童群体中研究了这种关系，这些儿童与患有 DLD 的儿童具有相同的表型特征：患有 22q11.2 缺失综合征 (22q11DS) 的儿童。我们将 22q11DS 儿童、DLD 儿童和年龄匹配的典型发育儿童 (TD) 进行比较。方法 44 名 22q11DS 儿童、65 名 DLD 儿童和 81 名 TD 儿童，年龄在 3.0-6.5 岁之间，参加纵向队列研究，包括基线测量和间隔 1 年的随访测量。家长问卷 (SRS-2) 用于测量与 ASD 相关的两个关键行为领域的行为发生率：社交沟通和互动以及受限的重复行为和兴趣。在基线时，我们通过标准化测试评估了儿童的表达和接受语言能力以及他们的智力功能。我们比较了三组之间 ASD 相关行为的分布。我们使用回归分析来研究基线的语言能力是否可以预测后续的 ASD 相关行为，并考虑基线的 ASD 相关行为、人口统计学变量和智力功能。结果 22q11DS 儿童和 DLD 儿童均比 TD 儿童表现出更多的 ASD 相关行为。两个临床组中超过 30% 的儿童在两个行为领域的得分都超过了 ASD 的亚临床阈值。在控制基线 SRS 分数时，22q11DS 和 DLD 中的基线接受性语言分数与 1 年后的 ASD 相关行为呈负相关。然而，这种关联仅在 22q11DS 儿童中具有统计学显着性，即使在控制 IQ 分数时也是如此，而且这种关联明显强于 TD 组。22q11DS 和 DLD 之间的关联强度没有显着差异。结论 22q11DS 儿童和 DLD 儿童在学龄前的 ASD 相关行为发生率均较高。仅在患有 22q11DS 的儿童中，我们观察到较弱的语言接受能力与一年后社交沟通和互动领域的行为问题增加有关。意义 我们的研究结果表明，在具有同质病因的儿童亚组中检测早期语言障碍与其他行为表型之间的关系可能比在具有异质病因的儿童群体（例如患有 DLD 的儿童）中更可行。我们在 22q11DS 中的结果表明，接受性语言对于预测 ASD 相关行为的发生尤其重要。未来的研究需要确定接受性语言在多大程度上可以预测患有 DLD 的儿童发生 ASD 相关行为，特别是那些接受性语言最弱的 DLD 儿童。临床上，建议对有发展性语言困难的儿童，特别是有接受性语言困难的儿童从小就进行自闭症谱系障碍相关行为的筛查。