Selten Iris, Boerma Tessel, Everaert Emma, Gerrits Ellen, Houben Michiel, Wijnen Frank, Vorstman Jacob
Program in Genetics and Genome Biology, Research Institute, and Department of Psychiatry, The Hospital for Sick Children, Toronto, ON, Canada; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Institute for Language Sciences, Utrecht University, Utrecht, The Netherlands; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Autism Dev Lang Impair. 2023 Jun 20;8:23969415231179844. doi: 10.1177/23969415231179844. eCollection 2023 Jan-Dec.
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).
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: and . 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.
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.
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.
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.
发育性语言障碍(DLD)儿童出现与自闭症谱系障碍(ASD)相关行为的风险增加。DLD中早期语言困难与ASD相关行为发生之间的关系尚不清楚。可能阻碍理解这种关系进展的一个因素是DLD的病因异质性。因此,我们在一组病因同质的儿童中研究这种关系,这些儿童与DLD儿童具有相同的表型特征:22q11.2缺失综合征(22q11DS)儿童。我们将22q11DS儿童与DLD儿童以及年龄匹配的发育正常儿童(TD)进行比较。
44名22q11DS儿童、65名DLD儿童和81名3.0至6.5岁的TD儿童参与了一项纵向队列研究,该研究包括一项基线测量和一项间隔1年的随访测量。使用一份家长问卷(SRS - 2)来测量与ASD相关的两个关键行为领域中的行为发生率: 和 。在基线时,我们使用标准化测试评估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相关行为的分布情况。我们使用回归分析来研究基线时的语言能力是否能预测随访时的ASD相关行为,同时考虑基线时的ASD相关行为、人口统计学变量和智力功能。
22q11DS儿童和DLD儿童表现出的ASD相关行为均显著多于TD儿童。两个临床组中超过30%的儿童在两个行为领域的得分均超过了ASD的亚临床阈值。在22q11DS组和DLD组中,当控制基线SRS得分时,基线接受语言得分与1年后的ASD相关行为均呈负相关。然而,这种关联仅在22q11DS儿童中具有统计学意义,即使控制了智商得分,并且其关联强度比TD组更强。22q11DS组和DLD组之间关联强度没有显著差异。
22q11DS儿童和DLD儿童在学龄前出现ASD相关行为的比率均较高。仅在22q11DS儿童中,我们观察到较弱的接受语言技能与一年后社交沟通和互动领域中行为问题的增加有关。
我们的研究结果表明,与病因异质的儿童组(如DLD儿童)相比,在病因同质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更可行。我们在22q11DS方面的研究结果表明,接受语言在预测ASD相关行为的发生方面尤为重要。未来需要进行研究以确定接受语言在多大程度上能预测DLD儿童中ASD相关行为的发生,特别是在那些接受语言能力最弱的DLD儿童中。临床上,建议从幼年开始对有发育性语言困难的儿童进行ASD相关行为的筛查,尤其是那些有接受语言困难的儿童。