Swanson Meghan R, Haisley Lauren D, Dobyns William B, Schleiss Mark R
Masonic Institute for the Developing Brain, Center for Neurobehavioral Development, and Institute for Child Development, Division of Clinical Behavioral Neuroscience, University of Minnesota Medical School Minneapolis, Minneapolis, MN, USA.
Division of Pediatric Genetics & Metabolism, Department of Pediatrics, University of Minnesota Medical School Minneapolis, Minneapolis, MN, USA.
Pediatr Res. 2025 Jul 8. doi: 10.1038/s41390-025-04232-5.
Congenital cytomegalovirus (cCMV) infection is common, and usually clinically inapparent. The prevalence of infection is approximately 1:200 births, but only 10-15% of infants have clinically apparent CMV disease (CACMV) as newborns. The most common long-term disability is sensorineural hearing loss (SNHL), which occurs in 10-15% of all cases. Infants with CACMV are also at increased risk for intellectual disability, cerebral palsy, learning disabilities, ocular and cortical blindness, seizure disorders, developmental delay, and autism spectrum disorders. Although infants with clinically inapparent cCMV (CICMV) are at risk for SNHL, the spectrum of other adverse neurodevelopmental outcomes is less clear, since few studies have tracked neurodevelopment in this setting. With the advent of universal cCMV screening, most cCMV infections will now be identified in infants with CICMV. These infants require serial audiologic monitoring, but many questions are unanswered, including what kinds of diagnostic evaluations are required; what kinds of central nervous system (CNS) imaging studies are recommended; what the utility and value of developmental assessments is; and whether there are biomarkers that can inform the long-term prognosis and direct anticipatory guidance in monitoring for neurologic and neurodevelopmental adverse outcomes. IMPACT: Universal newborn screening for congenital CMV (cCMV) infection has been implemented in many US states and Canadian provinces. Most infants identified by universal screening have CICMV infections. All require audiologic monitoring, but there is minimal experience to direct other evaluations, including laboratory tests, brain imaging and neurodevelopmental assessments. Adverse neurodevelopmental outcomes in CICMV may be more extensive than previously appreciated. Research is needed to define the full range of potential neurocognitive disability. New knowledge generated by studying CICMV infections may aid in reclassification of the scope of disease in an emerging era of universal cCMV screening.
先天性巨细胞病毒(cCMV)感染很常见,通常在临床上无明显症状。感染的发生率约为每200例出生中有1例,但只有10 - 15%的婴儿在新生儿期患有临床明显的巨细胞病毒疾病(CACMV)。最常见的长期残疾是感音神经性听力损失(SNHL),在所有病例中发生率为10 - 15%。患有CACMV的婴儿出现智力残疾、脑瘫、学习障碍、眼盲和皮质盲、癫痫障碍、发育迟缓以及自闭症谱系障碍的风险也会增加。虽然临床上无明显症状的cCMV(CICMV)感染婴儿有发生SNHL的风险,但其他不良神经发育结局的范围尚不清楚,因为在此情况下很少有研究追踪神经发育情况。随着普遍cCMV筛查的出现,现在大多数cCMV感染将在患有CICMV的婴儿中被识别出来。这些婴儿需要进行系列听力监测,但许多问题仍未得到解答,包括需要何种诊断评估;推荐何种中枢神经系统(CNS)影像学检查;发育评估的效用和价值是什么;以及是否存在能够为长期预后提供信息并指导对神经和神经发育不良结局进行监测的预期指导的生物标志物。影响:美国许多州和加拿大省份已实施先天性巨细胞病毒(cCMV)感染的普遍新生儿筛查。通过普遍筛查识别出的大多数婴儿患有CICMV感染。所有这些婴儿都需要听力监测,但指导其他评估(包括实验室检查、脑部成像和神经发育评估)的经验很少。CICMV感染导致的不良神经发育结局可能比以前认识到的更为广泛。需要开展研究来确定潜在神经认知残疾的全部范围。通过研究CICMV感染产生的新知识可能有助于在普遍cCMV筛查的新时代对疾病范围进行重新分类。