Buchanan Caroline B, Stallworth Jennifer L, Scott Alexandra E, Glaze Daniel G, Lane Jane B, Skinner Steven A, Tierney Aubin E, Percy Alan K, Neul Jeffrey L, Kaufmann Walter E
Greenwood Genetic Center, SC, United States.
Baylor College of Medicine, Department of Pediatrics and Neurology, TX, United States.
Brain Dev. 2019 Feb;41(2):123-134. doi: 10.1016/j.braindev.2018.08.008. Epub 2018 Sep 11.
Rett syndrome (RTT) is a complex neurodevelopmental disorder with known behavioral abnormalities, both internalizing (e.g., anxiety, social withdrawal) and externalizing (e.g., aggression, self-abuse). However, a broad evaluation of behavioral abnormalities in a large cohort is lacking.
In this report, we describe profiles of internalizing and externalizing behaviors in individuals evaluated in the multi-center U.S. Rett Natural History Study.
Cross-sectional and longitudinal data were collected from 861 females with RTT and from 48 females who have MECP2 mutations without meeting criteria for RTT. Standard statistical methods including linear regression evaluated internalizing behavioral components from the Child Health Questionnaire (CHQ-PF50) and externalizing components from the Motor Behavioral Assessment (MBA).
We found mildly to moderately severe internalizing behaviors in nearly all individuals with RTT, while externalizing behaviors were mild and uncommon. Internalizing behavior in RTT was comparable to groups with psychiatric disorders. Participants with mixed (internalizing and externalizing) behaviors were younger and less affected overall, but showed prominent self-injury and worsening internalizing behaviors over time.
This study revealed that internalizing behaviors are common at a clinically significant level in RTT. Understanding clinical features associated with behavioral profiles could guide treatment strategies.
雷特综合征（RTT）是一种复杂的神经发育障碍，具有已知的行为异常，包括内化行为（如焦虑、社交退缩）和外化行为（如攻击、自我伤害）。然而，目前缺乏对大量队列中行为异常的广泛评估。
在本报告中，我们描述了在美国多中心雷特自然病史研究中接受评估的个体的内化和外化行为特征。
收集了861名雷特综合征女性患者和48名携带MECP2突变但不符合雷特综合征标准的女性的横断面和纵向数据。采用包括线性回归在内的标准统计方法，评估儿童健康问卷（CHQ-PF50）中的内化行为成分和运动行为评估（MBA）中的外化行为成分。
我们发现几乎所有雷特综合征患者都存在轻度至中度严重的内化行为，而外化行为则较为轻微且不常见。雷特综合征中的内化行为与患有精神疾病的群体相当。具有混合（内化和外化）行为的参与者年龄较小，总体受影响较小，但随着时间的推移，表现出明显的自我伤害和内化行为恶化。
本研究表明，内化行为在雷特综合征中处于具有临床意义的常见水平。了解与行为特征相关的临床特征可为治疗策略提供指导。
