Clinical Data Science GmbH, Basel, Switzerland.
Division of Orthopedics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ann Clin Transl Neurol. 2021 Jun;8(6):1239-1250. doi: 10.1002/acn3.51352. Epub 2021 May 5.
The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich's ataxia (FRDA) and document the factors leading to the requirement for corrective surgery.
Data on the prevalence of scoliosis and scoliosis surgery from up to 17 years of follow-up collected during a large natural history study in FRDA (1116 patients at 4928 visits) were summarized descriptively and subjected to time to event analyses.
Well over 90% of early or typical FRDA patients (as determined by age of onset) developed intermediate to severe scoliosis, while patients with a later onset (>14 years) had no or much lower prevalence of scoliosis. Diagnosis of scoliosis occurs during the onset of ataxia and in rare cases even prior to that. Major progression follows throughout the growth phase and puberty, leading to the need for surgical intervention in more than 50% of individuals in the most severe subgroup. The youngest patients appear to delay surgery until the end of the growth period, leading to further progression before surgical intervention. Age of onset of FRDA before or after reaching 15 years sharply separated severe and relatively mild incidence and progression of scoliosis.
Scoliosis is an important comorbidity of FRDA. Our comprehensive documentation of scoliosis progression in this natural history study provides a baseline for comparison as novel treatments become available.
本研究旨在描述弗里德里希共济失调（FRDA）自然史中脊柱侧凸的发生率和进展情况，并记录导致需要进行矫正手术的相关因素。
对 FRDA 大型自然史研究（1116 例患者，4928 次就诊）中长达 17 年随访期间收集的脊柱侧凸患病率和脊柱侧凸手术数据进行描述性总结，并进行事件时间分析。
超过 90%的早期或典型 FRDA 患者（根据发病年龄确定）会发展为中重度脊柱侧凸，而发病年龄较晚（>14 岁）的患者脊柱侧凸的患病率较低或几乎没有。脊柱侧凸的诊断发生在共济失调发病期间，在极少数情况下甚至在此之前。在生长阶段和青春期，脊柱侧凸会出现明显进展，导致超过 50%的病情最严重亚组患者需要手术干预。年龄最小的患者似乎会延迟到生长期末期才进行手术，导致手术干预前进一步进展。在 15 岁之前或之后发病的 FRDA 发病年龄会明显影响脊柱侧凸的严重程度和进展情况。
脊柱侧凸是 FRDA 的一种重要合并症。我们在自然史研究中对脊柱侧凸进展进行了全面的记录，为新疗法的出现提供了基线比较。
