Abstract：
BACKGROUND: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neuroimmune disease with peak onset at 18 months, associated with neural crest tumors in 50% of patients. In part due to its rarity, misdiagnosis at onset is common, can delay treatment, and may contribute to adverse outcomes. Patient-reported registries may overcome some of these challenges in rare disease research. In this context, the OMSLife Foundation collaborated with the National Organization of Rare Diseases to create a patient-reported registry in OMAS.
METHODS: Retrospective analysis was performed of data entered by parents of patients with OMAS into nine online surveys assessing demographics, symptoms at onset, triggers, time of diagnosis, treatment, and additional therapies.
RESULTS: A total of 194 patients were enrolled. There was a female predominance (54%) and high rate of parental autoimmunity (31%). Age at onset peaked between 12 and 18 months overall. The age of onset was older in female patients (median [interquartile range]: females 22 [15 to 31] vs males 18 [14 to 23], P = 0.0223, P = 0.0223). Symptoms at onset most commonly included ataxia (84%) and were typically severe. Initial misdiagnosis occurred in nearly 50% and tumor discovery was delayed in 18 patients, but overall median time to correct diagnosis was 25 days. Most patients (56%) received combination immunomodulatory therapies, and nearly all underwent supportive therapies.
CONCLUSIONS: Patient- and parent-powered research is feasible in OMAS and created the second largest published cohort of pediatric patients with OMAS. Results were similar to other large cohorts and also validated findings from prior case reports and smaller case series.
METHODS: Retrospective analysis was performed of data entered by parents of patients with OMAS into nine online surveys assessing demographics, symptoms at onset, triggers, time of diagnosis, treatment, and additional therapies.
RESULTS: A total of 194 patients were enrolled. There was a female predominance (54%) and high rate of parental autoimmunity (31%). Age at onset peaked between 12 and 18 months overall. The age of onset was older in female patients (median [interquartile range]: females 22 [15 to 31] vs males 18 [14 to 23], P = 0.0223, P = 0.0223). Symptoms at onset most commonly included ataxia (84%) and were typically severe. Initial misdiagnosis occurred in nearly 50% and tumor discovery was delayed in 18 patients, but overall median time to correct diagnosis was 25 days. Most patients (56%) received combination immunomodulatory therapies, and nearly all underwent supportive therapies.
CONCLUSIONS: Patient- and parent-powered research is feasible in OMAS and created the second largest published cohort of pediatric patients with OMAS. Results were similar to other large cohorts and also validated findings from prior case reports and smaller case series.
摘要：
背景：Opsoclonus-myoclonus-ataxiasyndrome(OMAS)是一种罕见的神经免疫性疾病，发病高峰在18个月，50％的患者与神经c肿瘤有关。部分原因是它的稀有性,发病时误诊很常见，可以延迟治疗，并可能导致不良后果。患者报告的注册可以克服罕见疾病研究中的一些挑战。在这种情况下，OMSLife基金会与国家罕见疾病组织合作，在OMAS中创建了患者报告的注册表。
方法：对OMAS患者父母输入的数据进行回顾性分析，纳入9项评估人口统计学的在线调查，发病时的症状，触发器,诊断时间,治疗,和额外的疗法。
结果：共纳入194例患者。女性占主导地位（54％），父母自身免疫率高（31％）。总体发病年龄在12至18个月之间达到峰值。女性患者的发病年龄较大（中位数[四分位数范围]：女性22[15至31]对男性18[14至23]，P=0.0223,P=0.0223)。发作时最常见的症状包括共济失调（84％），通常是严重的。最初误诊近50%，肿瘤发现延迟18例，但正确诊断的总体中位时间为25天.大多数患者（56％）接受了联合免疫调节疗法，几乎所有人都接受了支持疗法。
结论：在OMAS中，由患者和父母进行的研究是可行的，并创建了第二大已发表的OMAS儿科患者队列。结果与其他大型队列相似，也验证了先前病例报告和较小病例系列的发现。
方法：对OMAS患者父母输入的数据进行回顾性分析，纳入9项评估人口统计学的在线调查，发病时的症状，触发器,诊断时间,治疗,和额外的疗法。
结果：共纳入194例患者。女性占主导地位（54％），父母自身免疫率高（31％）。总体发病年龄在12至18个月之间达到峰值。女性患者的发病年龄较大（中位数[四分位数范围]：女性22[15至31]对男性18[14至23]，P=0.0223,P=0.0223)。发作时最常见的症状包括共济失调（84％），通常是严重的。最初误诊近50%，肿瘤发现延迟18例，但正确诊断的总体中位时间为25天.大多数患者（56％）接受了联合免疫调节疗法，几乎所有人都接受了支持疗法。
结论：在OMAS中，由患者和父母进行的研究是可行的，并创建了第二大已发表的OMAS儿科患者队列。结果与其他大型队列相似，也验证了先前病例报告和较小病例系列的发现。
