Abdelwahab Magy, Potegal Michael, Shapiro Elsa G, Nestrasil Igor
Department of Pediatric Hematology (M.A.), Cairo University Pediatric Hospital, Egypt; and Program in Occupational Therapy (M.P.), and Division of Clinical Behavioral Neuroscience (E.G.S., I.N.), Department of Pediatrics, University of Minnesota, Minneapolis.
Neurol Genet. 2017 May 23;3(3):e158. doi: 10.1212/NXG.0000000000000158. eCollection 2017 Jun.
To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics.
Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or more abnormal behaviors documented in 2 settings and by 2 different individuals and/or by video recording. Behaviors were grouped into 4 categories: Crying/Withdrawal, Impatience/Overactivity, Anger/Aggression, and Repetitive Acts. Baseline and follow-up 6-12 monthly neurologic evaluations included IQ assessment and an EEG. All patients were receiving enzyme replacement therapy (30-60 IU/kg every 2 weeks) and were followed for periods of 3-10 years.
Supranuclear palsy of horizontal gaze, and of both horizontal and vertical gaze, bulbar symptoms, seizures, convergent strabismus, abnormal gait, and neck retroflexion were present in 97.1%, 50%, 55.9%, 29.4%, 29.4%, 20.6%, and 4.4% of patients, respectively. The most abnormal behavioral features were excessive anger (88.2%) and aggression (64.7%), and both were significantly higher in males. Anger/Aggression scores were highly correlated with IQ but not with either EEG/Seizure status or neurologic signs.
We describe behavioral problems with a unique pattern of excessive anger and aggression in patients with GD3. Defining these components using quantitative behavioral scoring methods holds promise to provide a marker of neurologic disease progression and severity.
全面描述3型戈谢病（GD3）患者的异常行为，并将这些行为与人口统计学、神经发育和神经学特征相关联。
34名埃及GD3患者（平均年龄7.9岁）纳入研究。他们是根据父母报告和/或医生观察选定的，这些异常行为在两种情境下由两名不同个体记录和/或通过视频记录。行为分为4类：哭闹/退缩、不耐烦/多动、愤怒/攻击和重复行为。基线及每6 - 12个月的随访神经学评估包括智商评估和脑电图检查。所有患者均接受酶替代治疗（每2周30 - 60 IU/kg），随访3 - 10年。
分别有97.1%、50%、55.9%、29.4%、29.4%、20.6%和4.4%的患者出现水平凝视核上性麻痹、水平及垂直凝视核上性麻痹、延髓症状、癫痫发作、内斜视、异常步态和颈部后屈。最异常的行为特征是过度愤怒（88.2%）和攻击行为（64.7%），且男性患者的这两项特征明显更高。愤怒/攻击评分与智商高度相关，但与脑电图/癫痫状态或神经学体征均无关。
我们描述了GD3患者具有过度愤怒和攻击这一独特模式的行为问题。使用定量行为评分方法定义这些成分有望提供神经疾病进展和严重程度的标志物。
