Department of Neurology, Rouen University Hospital, University of Rouen, 76000, Rouen, France.
Department of Psychiatry, Rouvray Hospital, University of Rouen, 76000, Rouen, France.
Orphanet J Rare Dis. 2023 Sep 22;18(1):298. doi: 10.1186/s13023-023-02851-x.
To describe Niemann-Pick type C (NP-C) behavioral symptoms (focusing on psychotic symptoms) and its relation to frontal lobe functioning.
We retrospectively reviewed medical charts of NP-C-patients followed in the Lysosomal Diseases reference center in Paris Pitié-Salpêtrière. We collected demographic data, psychiatric clinical manifestations, psychometric scales, and extended neuropsychological data including executive and behavioral frontal lobe functions evaluations.
Nineteen patients were included in the study with ten of them having experienced at least one acute psychotic episode, being inaugural for six of them. Most of the patients suffered from behavioral (15/17) and cognitive disorders (18/19) (including executive dysfunction (11/12), apathy (13/17), impaired social cognition (11/13) and stereotyped behaviors (5/10). For five patients, quality of life was significantly impaired by these abnormal behaviors. Concerning frontal neuropsychological evaluation, Facial emotion recognition was by far the most performed neuropsychological test (n = 8) and the score was always abnormal. It is noteworthy that psychotic symptoms were often drug resistant (8/9) and that Miglustat was associated with a better control of psychotic symptoms.
We report a high frequency of psychiatric symptoms in NP-C encompassing acute psychotic manifestations, often presenting early in the course of the disease with atypical features. We also report disabling behavioral manifestations related to frontal dysfunction.
描述尼曼-匹克 C 型（NP-C）的行为症状（重点关注精神病症状）及其与额叶功能的关系。
我们回顾性地查阅了在巴黎皮提-萨尔佩特里埃莱塞萨尔医院溶酶体疾病参考中心就诊的 NP-C 患者的病历。我们收集了人口统计学数据、精神科临床表现、心理计量学量表以及扩展的神经心理学数据，包括执行和行为额叶功能评估。
19 名患者纳入本研究，其中 10 名患者至少经历过一次急性精神病发作，其中 6 名患者首次发作。大多数患者患有行为（15/17）和认知障碍（18/19）（包括执行功能障碍（11/12）、冷漠（13/17）、社会认知受损（11/13）和刻板行为（5/10）。对于 5 名患者，这些异常行为严重影响了他们的生活质量。关于额叶神经心理学评估，面部情绪识别是迄今为止进行得最多的神经心理学测试（n=8），且得分总是异常。值得注意的是，精神病症状往往对药物有抗性（8/9），且米格列醇治疗与精神病症状更好的控制有关。
我们报告了 NP-C 中精神症状的高频率，包括急性精神病表现，这些症状通常在疾病早期出现，且具有非典型特征。我们还报告了与额叶功能障碍相关的致残行为表现。
