关键词: autism characteristics heterogeneity homogeneity phenotypes

Mesh : Autism Spectrum Disorder / diagnosis epidemiology Autistic Disorder / complications Case-Control Studies Child Child, Preschool Female Humans Male Parents Surveys and Questionnaires

来  源:   DOI:10.1002/aur.2663   PDF(Pubmed)

Abstract:
The heterogeneous nature of children with symptoms of autism spectrum disorder (ASD) makes it difficult to identify risk factors and effective treatment options. We sought to identify behavioral and developmental features that best define the heterogeneity and homogeneity in 2-5-year-old children classified with ASD and subthreshold ASD characteristics. Children were enrolled in a multisite case-control study of ASD. Detailed behavioral and developmental data were gathered by maternal telephone interview, parent-administered questionnaires, child cognitive evaluation, and ASD diagnostic measures. Participants with a positive ASD screen score or prior ASD diagnosis were referred for comprehensive evaluation. Children in the ASD group met study criteria based on this evaluation; children who did not meet study criteria were categorized as having subthreshold ASD characteristics. There were 1480 children classified as ASD (81.6% boys) and 594 children classified as having subthreshold ASD characteristics (70.2% boys) in the sample. Factors associated with dysregulation (e.g., aggression, anxiety/depression, sleep problems) followed by developmental abilities (e.g., expressive and receptive language skills) most contributed to heterogeneity in both groups of children. Atypical sensory response contributed to homogeneity in children classified as ASD but not those with subthreshold characteristics. These findings suggest that dysregulation and developmental abilities are clinical features that can impact functioning in children with ASD and other DD, and that documenting these features in pediatric records may help meet the needs of the individual child. Sensory dysfunction could be considered a core feature of ASD and thus used to inform more targeted screening, evaluation, treatment, and research efforts. LAY SUMMARY: The diverse nature of autism spectrum disorder (ASD) makes it difficult to find risk factors and treatment options. We identified the most dissimilar and most similar symptom(s) in children classified as ASD and as having subthreshold ASD characteristics. Factors associated with dysregulation and developmental abilities contributed to diversity in both groups of children. Sensory dysfunction was the most common symptom in children with ASD but not those with subthreshold characteristics. Findings can inform clinical practice and research.
摘要:
自闭症谱系障碍(ASD)症状儿童的异质性使其难以识别危险因素和有效的治疗方案。我们试图确定行为和发育特征,以最好地定义具有ASD和亚阈值ASD特征的2-5岁儿童的异质性和同质性。儿童参加了ASD的多站点病例对照研究。通过母亲电话采访收集了详细的行为和发育数据,家长管理的问卷,儿童认知评估,和ASD诊断措施。具有阳性ASD筛查评分或先前ASD诊断的参与者被转介进行综合评估。根据这项评估,ASD组的儿童符合研究标准;不符合研究标准的儿童被归类为有亚阈值ASD特征。样本中有1480名被分类为ASD的儿童(81.6%的男孩)和594名被分类为具有亚阈值ASD特征的儿童(70.2%的男孩)。与失调相关的因素(例如,侵略,焦虑/抑郁,睡眠问题)其次是发育能力(例如,表达和接受语言技能)对两组儿童的异质性贡献最大。非典型的感觉反应有助于归类为ASD的儿童的同质性,而不是具有亚阈值特征的儿童。这些发现表明,失调和发育能力是临床特征,可以影响ASD和其他DD儿童的功能。在儿科记录中记录这些特征可能有助于满足个别儿童的需求。感觉功能障碍可以被认为是ASD的核心特征,因此可以用于更有针对性的筛查。评估,治疗,和研究努力。总结:自闭症谱系障碍(ASD)的多样性使得很难找到风险因素和治疗方案。我们在被分类为ASD和具有亚阈值ASD特征的儿童中确定了最不同和最相似的症状。与失调和发育能力相关的因素导致了两组儿童的多样性。感觉功能障碍是ASD儿童中最常见的症状,但不是具有亚阈值特征的儿童。研究结果可以为临床实践和研究提供信息。
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