Sensitivity of toddler screening: Integrating concurrent and prospective strategies to detect ASD

在健康儿童儿科体检期间筛查自闭症谱系障碍(ASD)可降低年龄 诊断，为关键的早期干预留出更多时间。此外，普遍筛查可以减轻 少数群体诊断年龄的差异，并已被证明在社区中是可行的-- 基于初级保健设置。然而，对筛查阴性的学步儿童进行有限的随访是一个显著的差距 有助于美国预防服务工作组(USPSTF)决定的文献 目前没有足够的证据建议普及ASD筛查。对没有接受治疗的儿童进行随访 确定存在风险是成本和劳动力密集型的，但对于确定幼儿ASD筛查的敏感性至关重要。 这项研究将是第一批在大样本、低风险样本中使用严格的前瞻性检测策略的研究之一 以前是同时检测的。拟议研究的目标是通过以下方式发现遗漏的案件 在之前的三项筛查研究过程中，重新筛查未被确认为ASD的儿童 实施修订的幼儿自闭症检查表，并在幼儿健康期间进行随访 来访。这包括那些在蹒跚学步时筛查呈阴性的儿童，以及筛查呈阳性但 要么失去了随访，要么接受了评估而没有被诊断为ASD。具体目标是衡量 对潜在漏诊病例使用严格的病例确认进行预期敏感性。我们将在以下方面确定模式 这些漏诊病例的幼儿筛查结果；我们预测，首次筛查年龄较小的儿童 与那些没有完成多次筛查的人相比，这些人更有可能被漏诊 在较年长的学步儿童来访时进行筛查，并在三岁时重新筛查。最后，我们将检查遗漏的案件是否 更有可能有轻微的ASD症状，更有可能患有精神疾病，并且是女性 与那些在蹒跚学步时就表现出风险，但直到他们被诊断为自闭症的儿童相比 年纪更大了。尽管这些特征都是假设的，但缺乏确凿的证据来证明。 幼儿筛查漏诊的自闭症儿童之间的差异。多点样本的大部分(总计 8,751例在1至3岁之间的一次或多次儿科就诊中筛查为阴性(n=8,091)。此外, 我们将对筛查呈阳性但没有参加评估的儿童(n=426)进行重新筛查，这通常意味着 缺乏父母的关心，儿童被评估并归类为非自闭症(n=234)，他们可能已经发展成 随着年龄的增长，临床上有明显的ASD症状。现在，家长将被邀请为他们的孩子注册和重新筛选 7-14岁，使用安全的基于网络的门户。所有的高危儿童，以及低风险病例的随机样本， 将被邀请进行全面、可靠的研究评估；最终的ASD结果将用于计算 预期敏感度，这将与基于记录审查的文献报道敏感度进行比较 战略。这项拟议研究的结果将直接解决USPSTF确定的差距，并将 回答机构间自闭症协调委员会关于自闭症早期发现的问题1。

Screening for autism spectrum disorder (ASD) during well-child pediatric check-ups reduces the age of diagnosis, allowing more time for critical early intervention. Furthermore, universal screening mitigates disparities in the age of diagnosis for minorities, and has been demonstrated to be feasible in community- based primary care settings. However, limited follow-up of toddlers who screened negative is a notable gap in the literature that contributed to the United States Preventive Services Task Force’s (USPSTF) determination of insufficient evidence to recommend universal ASD screening at present. Follow-up of children who are not identified at risk is cost- and labor-intensive, but is critical to determine the sensitivity of toddler ASD screening. This study will be among the first to use rigorous prospective detection strategies in a large, low-risk sample that previously had concurrent detection. The goal of the proposed study is to find missed cases by rescreening children who were not identified with ASD during the course of three prior screening studies that administered the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up during toddler well child visits. This includes those who screened negative as toddlers, as well as children who screened positive but either were lost to follow-up or were evaluated and not diagnosed with ASD. The specific aims are to measure prospective sensitivity using rigorous case confirmation for potential missed cases. We will identify patterns in toddler screening outcomes for these missed cases; we predict that children whose first screen was younger and those who did not complete multiple screens are more likely to be missed cases compared to those screened at older toddler visits and rescreened by age three. Finally, we will examine whether missed cases are more likely to have milder ASD symptoms, greater likelihood of psychiatric comorbidities, and be female compared to children who demonstrated risk as toddlers but were not diagnosed with ASD until they were older. Although these characteristics have been hypothesized, rigorous evidence is lacking to demonstrate differences between children with ASD missed by toddler screening. The majority of the multi-site sample (total n = 8,751) screened negative at one or more pediatric visits between 1 and 3 years old (n = 8,091). In addition, we will rescreen children who screened positive but did not attend the evaluation (n = 426), which often signals lack of parent concern, and children evaluated and classified as nonASD (n = 234), who may have developed clinically significant ASD symptoms as they aged. Parents will be invited to enroll and rescreen their child, now 7-14 years old, using a secure web-based portal. All at risk children, and a random sample of low-risk cases, will be invited for a comprehensive, research-reliable evaluation; final ASD outcomes will be used to calculate prospective sensitivity, which will be compared to literature reporting sensitivity based on record review strategies. Results of this proposed study will directly address a gap identified by the USPSTF, and will address the Interagency Autism Coordinating Committee’s Question 1 about early detection of ASD.