Unit of Pediatric Movement Disorders, Hospital Sant Joan de Déu, Barcelona, Spain.
Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe, Valencia, Spain.
Mov Disord. 2017 Nov;32(11):1620-1630. doi: 10.1002/mds.27129. Epub 2017 Aug 28.
Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration.
In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs.
Forty-seven genetically confirmed patients (30 ± 17 years; range, 6-77 years) were examined with the scale (mean score, 62 ± 21; range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's α = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale.
The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. © 2017 International Parkinson and Movement Disorder Society.
泛酸激酶相关神经退行性变是一种在儿童和成人中均会发生的进行性神经疾病。本研究旨在设计并初步测试一种用于评估泛酸激酶相关神经退行性变患者的疾病特异性临床评分量表。
在这项国际性的横断面研究中，患者在转诊中心按照标准化方案接受检查。运动检查进行了录像，以便 3 位运动障碍领域的独立专家对 28 例患者进行分析，以评估组内可信度。该量表包含 34 个条目（最高得分 135），涵盖认知、行为、残疾、帕金森病、肌张力障碍和其他神经体征 6 个亚量表。
对 47 例经基因确认的患者（30±17 岁；范围 6-77 岁）进行了量表检查（平均得分 62±21；范围 20-106）。所有患者均存在以颅神经受累为主的肌张力障碍和非典型帕金森特征。其他常见体征包括认知障碍、精神特征以及缓慢、低幅度的扫视运动。肌张力障碍、帕金森病和其他神经特征与残疾有中度至高度相关性。该量表的总分内部一致性良好（Cronbach's α=0.87）。在组内分析中，85%的项目的加权 κ 值（0.30-0.93）显示出明显或极好的一致性。该量表还可区分出评分较低的纯合 c.1583C>T 患者亚组，支持该量表具有结构效度。
所提出的量表似乎是一种可靠且有效的工具，可用于评估泛酸激酶相关神经退行性变的儿科和成年患者。需要更大样本量的进一步验证研究来确认目前的结果并完成量表验证测试。
