Shapiro Elsa G, Nestrasil Igor, Ahmed Alia, Wey Andrew, Rudser Kyle R, Delaney Kathleen A, Rumsey Robin K, Haslett Patrick A J, Whitley Chester B, Potegal Michael
University of Minnesota, Department of Pediatrics, Minneapolis, MN, USA.
University of Minnesota, Department of Pediatrics, Minneapolis, MN, USA.
Mol Genet Metab. 2015 Apr;114(4):594-8. doi: 10.1016/j.ymgme.2015.02.008. Epub 2015 Mar 5.
The Sanfilippo Behavior Rating Scale (SBRS), a 68 item questionnaire, has been developed to assess the behavioral phenotype of children with Sanfilippo syndrome and its progression over time. Fifteen scales rate orality, movement/activity, attention/self-control, emotional function including anger and fear, and social interaction. Items within scales intercorrelate; measures of internal consistency are adequate. Twelve scales are grouped into 4 abnormality clusters: Movement, Lack of fear, Social/emotional and Executive Dysfunction. A Loess age-trajectory analysis showed that Lack of Fear, Social/Emotional and Executive Dysfunction increased steadily with age; Orality and Mood/Anger/Aggression leveled off. Movement peaked around 6years, then declined as children's excessive/purposeless actions stopped. Compared with standard scales, SBRS Movement was appropriately associated with the Vineland Motor scale; SBRS Lack of Fear had significant associations with the Autism Diagnostic Observation Schedule (ADOS), indicating a symptom overlap between Sanfilippo syndrome and autism. This suggests that reduced fearfulness may be the most salient/sensitive SBRS marker of disease progression. Volumetric MRI showed that increased Lack of Fear was significantly associated with reduced amygdala volume, consistent with our hypothesis that the behavior seen in Sanfilippo syndrome is a variant of Klüver-Bucy syndrome. Hippocampal volume loss had twice the effect on Social-Emotional Dysfunction as amygdala loss, consistent with a hippocampal role in attachment and social emotions. In conclusion, the SBRS assesses the Sanfilippo behavioral phenotype; it can measure behavior change that accompanies disease progression and/or results from treatment.
桑菲利波行为评定量表（SBRS）是一份包含68个条目的问卷，旨在评估桑菲利波综合征患儿的行为表型及其随时间的进展情况。15个分量表对口头表达、运动/活动、注意力/自我控制、包括愤怒和恐惧在内的情绪功能以及社交互动进行评分。各分量表中的条目相互关联；内部一致性测量结果良好。12个分量表被分为4个异常集群：运动、无畏、社交/情绪和执行功能障碍。局部加权回归年龄轨迹分析显示，无畏、社交/情绪和执行功能障碍随年龄稳步增加；口头表达以及情绪/愤怒/攻击性行为趋于平稳。运动在6岁左右达到峰值，随后随着儿童过度/无目的行为的停止而下降。与标准量表相比，SBRS运动分量表与文兰适应行为量表的运动分量表有适当关联；SBRS无畏分量表与自闭症诊断观察量表（ADOS）有显著关联，表明桑菲利波综合征与自闭症之间存在症状重叠。这表明无畏情绪降低可能是疾病进展最显著/敏感的SBRS标志物。容积磁共振成像显示，无畏情绪增加与杏仁核体积减小显著相关，这与我们的假设一致，即桑菲利波综合征中出现的行为是克吕弗-布西综合征的一种变体。海马体体积损失对社交-情绪功能障碍的影响是杏仁核损失的两倍，这与海马体在依恋和社交情绪中的作用一致。总之，SBRS可评估桑菲利波行为表型；它可以测量伴随疾病进展和/或治疗结果的行为变化。
