Service de Médecine Psychologique Enfants et Adolescents, CHU Saint Eloi, Montpellier, France.
Département de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France.
Dev Med Child Neurol. 2018 Dec;60(12):1256-1263. doi: 10.1111/dmcn.13935. Epub 2018 Jun 21.
Benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) are characterized by transient and recurrent episodes of neurological manifestations. The purpose of this study was to analyse the clinical relationships between these syndromes, associated comorbidities, and genetic bases.
In this cross-sectional study, clinical data of patients with BPT, BPV, or BTU were collected with a focus on developmental achievements, learning abilities, and rehabilitation. Neuropsychological assessment and genetic testing were performed.
Fifty patients (median age at inclusion 6y) were enrolled. Psychomotor delay, abnormal neurological examination, and low or borderline IQ were found in 19%, 32%, and 26% of the patients respectively. Cognitive dysfunction was present in 27% of the patients. CACNA1A gene mutation was identified in eight families, and KCNA1 and FGF14 mutation in one family respectively. The identification of a CACNA1A mutation was significantly associated with BTU (p=0.03) and with cognitive dysfunction (p=0.01). Patients with BPV were less likely to have cognitive dysfunction.
Children with BPT, BPV, or BTU are at high risk of impaired psychomotor and cognitive development. These syndromes should not be regarded as benign and should be considered as part of the spectrum of a neurodevelopmental disorder.
Patients with benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) have an increased risk of psychomotor delay. These patients also have an increased risk of abnormal neurological examination and cognitive dysfunction. Gene mutations, especially in CACNA1A, were identified in 21% of the families. BPT, BTU, and BPV should not be regarded as benign. BPT, BTU, and BPV should be considered as part of the spectrum of a neurodevelopmental disorder.
良性阵发性斜颈（BPT）、良性阵发性眩晕（BPV）和良性痉挛性上视（BTU）的特征是短暂和反复出现的神经表现发作。本研究的目的是分析这些综合征之间的临床关系、相关合并症和遗传基础。
在这项横断面研究中，我们收集了患有 BPT、BPV 或 BTU 的患者的临床数据，重点关注发育成就、学习能力和康复情况。进行了神经心理学评估和基因测试。
共纳入 50 名患者（中位纳入年龄 6 岁）。19%的患者存在运动发育迟缓、神经系统异常检查和低或边缘智商，32%和 26%的患者分别存在认知功能障碍。27%的患者存在认知功能障碍。在 8 个家族中发现 CACNA1A 基因突变，在 1 个家族中发现 KCNA1 和 FGF14 基因突变。CACNA1A 基因突变的鉴定与 BTU（p=0.03）和认知功能障碍（p=0.01）显著相关。BPV 患者发生认知功能障碍的可能性较小。
患有 BPT、BPV 或 BTU 的儿童存在运动和认知发育受损的高风险。这些综合征不应被视为良性，而应被视为神经发育障碍谱的一部分。
患有良性阵发性斜颈（BPT）、良性阵发性眩晕（BPV）和良性痉挛性上视（BTU）的患者运动发育迟缓的风险增加。这些患者还存在神经系统异常检查和认知功能障碍的风险增加。在 21%的家族中发现基因突变，特别是 CACNA1A。BPT、BTU 和 BPV 不应被视为良性。BPT、BTU 和 BPV 应被视为神经发育障碍谱的一部分。
