De Meo Ermelinda, Filippi Massimo, Trojano Maria, Comi Giancarlo, Patti Francasco, Brescia Morra Vincenzo, Salemi Giuseppe, Onofrj Marco, Lus Giacomo, Cocco Eleonora, Fonderico Mattia, Torri Clerici Valentina, Maniscalco Giorgia Teresa, Valentino Paola, Bertolotto Antonio, Lugaresi Alessandra, Bergamaschi Roberto, Rovaris Marco, Sola Patrizia, Tedeschi Gioacchino, Pesci Ilaria, Aguglia Umberto, Cavalla Paola, Maimone Davide, Granella Franco, Vianello Marika, Simone Marta, Portaccio Emilio, Amato Maria Pia
Neuroimaging Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Scientific Institute for Research and Health Care, Milan, Italy.
Vita-Salute San Raffaele University, Milan, Italy.
Ann Neurol. 2022 Apr;91(4):483-495. doi: 10.1002/ana.26322. Epub 2022 Feb 28.
This study was undertaken to describe and compare disease course and prognosis of early (ie, disease onset before age 11 years) and late (ie, disease onset after age 11 years) onset pediatric multiple sclerosis.
Prospectively collected clinical information from Italian Multiple Sclerosis Register of 1993 pediatric multiple sclerosis patients, of whom 172 had early onset, was analyzed. Cox models adjusted for sex, baseline Expanded Disability Status Scale score, and disease-modifying treatments and stratified for diagnostic criteria adopted (Poser vs McDonald) were used to assess the risk of reaching irreversible Expanded Disability Status Scale scores of 3, 4, and 6, and conversion to secondary progressive phenotype in early versus late onset pediatric patients. Prognostic factors were also evaluated.
A greater proportion of males, isolated brainstem involvement, and longer time interval between first and second clinical episode were observed in early versus late onset pediatric patients. Compared to late onset, early onset pediatric patients took longer from disease onset to convert to secondary progressive phenotype and to reach all disability milestones. Recovery from first demyelinating event, time to first relapse, annualized relapse rate during the first 3 years of disease, and disease-modifying treatment exposure were independent predictors for long-term disability in early onset pediatric patients. In late onset pediatric patients, isolated optic neuritis, multifocal symptoms, and progressive course at disease onset were additional predictors for long-term disability.
These findings point toward the existence of a different natural history in early versus late onset pediatric multiple sclerosis patients. ANN NEUROL 2022;91:483-495.
本研究旨在描述和比较早发型（即发病年龄在11岁之前）和晚发型（即发病年龄在11岁之后）儿童多发性硬化症的病程和预后。
对前瞻性收集的来自意大利多发性硬化症登记处的1993例儿童多发性硬化症患者的临床信息进行分析，其中172例为早发型。采用Cox模型，对性别、基线扩展残疾状态量表评分和疾病修正治疗进行校正，并根据采用的诊断标准（波泽尔标准与麦克唐纳标准）进行分层，以评估早发型和晚发型儿童患者达到不可逆的扩展残疾状态量表评分3分、4分和6分以及转变为继发进展型表型的风险。还评估了预后因素。
与晚发型儿童患者相比，早发型儿童患者中男性比例更高、孤立性脑干受累以及首次和第二次临床发作之间的时间间隔更长。与晚发型相比，早发型儿童患者从疾病发作到转变为继发进展型表型以及达到所有残疾里程碑所需的时间更长。首次脱髓鞘事件后的恢复情况、首次复发时间、疾病最初3年的年化复发率以及疾病修正治疗暴露情况是早发型儿童患者长期残疾的独立预测因素。在晚发型儿童患者中，孤立性视神经炎、多灶性症状以及疾病发作时的进展性病程是长期残疾的额外预测因素。
这些发现表明早发型和晚发型儿童多发性硬化症患者存在不同的自然病程。《神经病学纪事》2022年；91:483 - 495。
