Knightly Katherine A, McFarland Eleanore A, Vander Haar Emilie, McKelvy Margaret H, Palmer Thea D, Volpe Stephanie V, Corke Stacy, Bussel James B
Department of Obstetrics and Gynecology, Weill Cornell Medicine, New York, NY, USA.
Renaissance School of Medicine at Stony Brook University, New York, NY.
Am J Obstet Gynecol. 2025 Jun 27. doi: 10.1016/j.ajog.2025.06.052.
Fetal-Neonatal AlloImmune Thrombocytopenia (FNAIT) results from parental platelet antigen incompatibility and maternal alloimmunization, most commonly to platelet antigen HPA-1a. De Vos et al. identified mild-moderate neurologic injury in 26% of 31 FNAIT-affected children aged 6-14 without past ICH. Suspicions from NAITbabies members, along with the De Vos observations, led to a survey evaluation of autism in FNAIT-affected children.
OBJECTIVE(S): This study explored the frequency of autism both by previous diagnosis and by screening in FNAIT-affected children with and without having had an ICH.
A de-identified survey was made available to mothers in NAITbabies, assessing risk of autism using four age-specific autism screening scales: Q-CHAT-10 for ages 18-24 months (n=18); M-CHAT-R 2-4 years(n=61); AQ-10-Child 4 -11 years (n=175); and AQ-10-Adolescent for >12 years (n=66). Mothers reported their child's ICH status and pre-screening autism diagnoses. Survey responses were scored using specific questionnaire algorithms.
Among 320 FNAIT-affected children, 24 (7.5%) had a previous autism diagnosis and 64 (20%) screened at risk. Among 182 children with known ICH status, that could be linked to an autism questionnaire response, 33 had suffered an ICH and 149 had not. Both pre-existing and screening autism diagnoses increased with age in both ICH and non-ICH groups, peaking in the 12+ age group: 67% with ICH and 36% without ICH. Autism findings were higher among ICH children but were most striking in the non-ICH group. 7.5% of the 4-11 age group (no ICH) and 18% of the 12+ age group (no ICH) already had been diagnosed with autism. With screening for high risk of autism, these numbers more than doubled to 19% (4-11 age group) and 36% (12+ age group). Positive predictive values of the latter two questionnaires were 0.94 and 0.86, respectively.
In FNAIT-affected children without an ICH, rates of autism were surprisingly high and became more apparent with age. These findings highlight the need for early screening and ongoing careful monitoring of children affected by FNAIT, even without known ICH, who can no longer be considered "consequence-free."
胎儿 - 新生儿同种免疫性血小板减少症（FNAIT）是由父母血小板抗原不相容和母体同种免疫引起的，最常见的是针对血小板抗原HPA - 1a。De Vos等人在31名6 - 14岁、既往无颅内出血（ICH）的FNAIT患儿中发现26%有轻至中度神经损伤。来自NAITbabies成员的怀疑以及De Vos的观察结果，促使对FNAIT患儿的自闭症情况进行调查评估。
本研究通过既往诊断和筛查，探讨有或无ICH的FNAIT患儿中自闭症的发生频率。
向NAITbabies的母亲提供一份身份信息保密的调查问卷，使用四种针对不同年龄段的自闭症筛查量表评估自闭症风险：针对18 - 24个月龄儿童的Q - CHAT - 10（n = 18）；针对2 - 4岁儿童的M - CHAT - R（n = 61）；针对4 - 11岁儿童的AQ - 10 - Child（n = 175）；以及针对12岁以上青少年的AQ - 10 - Adolescent（n = 66）。母亲们报告孩子的ICH状况和筛查前的自闭症诊断情况。调查问卷的回答使用特定的问卷算法进行评分。
在320名FNAIT患儿中，24名（7.5%）既往有自闭症诊断，64名（20%）筛查有风险。在182名已知ICH状况且其ICH状况可与自闭症问卷回答相关联的儿童中，33名曾发生ICH，149名未发生ICH。在ICH组和非ICH组中，既往存在的自闭症诊断和筛查出的自闭症诊断均随年龄增加，在12岁及以上年龄组达到峰值：ICH组为67%，非ICH组为36%。ICH患儿中自闭症的发现率更高，但在非ICH组中最为显著。4 - 11岁年龄组（无ICH）的7.5%和12岁及以上年龄组（无ICH）的18%已被诊断为自闭症。通过筛查自闭症高风险，这些数字增加了一倍多，分别为19%（4 - 11岁年龄组）和36%（12岁及以上年龄组）。后两种问卷的阳性预测值分别为0.94和0.86。
在无ICH的FNAIT患儿中，自闭症发生率出奇地高，且随年龄增长更为明显。这些发现凸显了对受FNAIT影响的儿童进行早期筛查和持续密切监测的必要性，即使是那些无已知ICH的儿童，他们也不能再被认为“没有后遗症”。
