Bean Jaworski Jessica L, Flynn Thomas, Burnham Nancy, Chittams Jesse L, Sammarco Therese, Gerdes Marsha, Bernbaum Judy C, Clancy Robert R, Solot Cynthia B, Zackai Elaine H, McDonald-McGinn Donna M, Gaynor J William
Cardiothoracic Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvainia, USA.
Congenit Heart Dis. 2017 Jul;12(4):421-429. doi: 10.1111/chd.12461. Epub 2017 Mar 16.
Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders.
Participants included 195 children with a history of congenital heart defects, who are followed in a large-scale longitudinal study. Measures included behavioral data from 4-year-old neurodevelopmental evaluations and parent-report data from a later annual follow-up.
Using established cutoffs on an autism spectrum disorder screener, children with congenital heart defects showed higher rates of "possible" autism spectrum disorders than national rates, (Chi-square Test of Equal Proportions), all Ps < .05. A stepwise variable selection method was used to create a "best prediction model" and multivariable logistic regression was used to identify variables predicting diagnostic status. Factors associated with diagnostic risk included medical (delayed sternal closure, prematurity, positive genetic findings), behavioral (cognitive, language, attention issues), and individual (socioeconomic, cultural/racial) variables. ROC analyses identified a cutoff of 7 to maximize sensitivity/specificity based on parent-reported diagnosis.
Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates. Findings highlight the need for referral to a specialist to assess the presence and severity of social-communication issues and congenital heart defects population-specific screening thresholds for children with concern for autism spectrum disorders.
非典型发育、行为困难和学业成绩不佳是先天性心脏病患儿常见的发病情况，会影响生活质量。已有研究描述了与自闭症谱系障碍相关的语言和社会认知缺陷。本研究旨在评估一大群有先天性心脏病病史儿童的自闭症谱系障碍发生率，并评估可能与自闭症谱系障碍风险相关的医学、行为和个体因素。
研究对象包括195名有先天性心脏病病史的儿童，他们参与了一项大规模纵向研究。测量指标包括4岁神经发育评估的行为数据以及后续年度随访的家长报告数据。
使用自闭症谱系障碍筛查工具既定的临界值，先天性心脏病患儿出现“可能”自闭症谱系障碍的比例高于全国水平（等比例卡方检验），所有P值均<0.05。采用逐步变量选择方法创建“最佳预测模型”，并使用多变量逻辑回归来识别预测诊断状态的变量。与诊断风险相关的因素包括医学因素（胸骨闭合延迟、早产、阳性基因检测结果）、行为因素（认知、语言、注意力问题）和个体因素（社会经济、文化/种族）变量。ROC分析确定临界值为7时，基于家长报告的诊断可使敏感性/特异性最大化。
先天性心脏病患儿自闭症谱系障碍筛查状态的风险高于总体人群预期。研究结果强调需要转诊至专科医生处，以评估社交沟通问题的存在和严重程度，并为担心患有自闭症谱系障碍的先天性心脏病患儿制定特定人群的筛查阈值。
