Shanahan M, Roberts J, Hatton D, Reznick J, Goldsmith H
Department of Maternal and Child Health, School of Public Health, University of North Carolina at Chapel Hill, North Carolina, USA.
J Intellect Disabil Res. 2008 Oct;52(10):842-54. doi: 10.1111/j.1365-2788.2008.01074.x. Epub 2008 May 19.
The phenotype of children and adults with fragile X syndrome (FXS) includes a number of problem behaviours such as inattention, social anxiety and aggressive outbursts. However, very little work has been conducted with young children with FXS less than 5 years of age to examine the developmental pathway of problem behaviours in this population and to determine if later occurring problem behaviours may be rooted in early appearing temperament profiles.
Parent ratings and laboratory-based behavioural observations of negative reactivity were examined in 25 3-year-old boys with FXS and compared with 64 typically developing boys matched on age.
Compared with the typically developing group, boys with FXS were rated by their parents as exhibiting less anger and sadness on the Child Behaviour Questionnaire (CBQ), and they showed less facial sadness on the Laboratory Temperament Assessment Battery (Lab-TAB). No group differences were found on the Lab-TAB measures of distress vocalisations, bodily struggle, and facial anger; and anger peaked in the middle of the arm restraint episode for both groups. For boys with FXS, mental age was moderately positively correlated, and autistic behaviour was moderately negatively correlated, with sadness scores from the CBQ.
Our results show different behavioural profiles in very young children with FXS than reported in older-aged children with FXS which implies that temperamental differences and elevated problem behaviours reported in older-aged children with FXS may not be rooted in early temperament. This information is important to develop the phenotype of early development in FXS to facilitate early identification and treatment.
脆性X综合征（FXS）患儿和成人的表型包括一些问题行为，如注意力不集中、社交焦虑和攻击性爆发。然而，针对5岁以下脆性X综合征幼儿的研究非常少，以探讨该人群问题行为的发展路径，并确定后期出现的问题行为是否可能源于早期出现的气质特征。
对25名3岁脆性X综合征男孩进行了家长评分和基于实验室的负面反应行为观察，并与64名年龄匹配的发育正常男孩进行比较。
与发育正常组相比，脆性X综合征男孩在儿童行为问卷（CBQ）上被家长评为表现出较少的愤怒和悲伤，并且在实验室气质评估量表（Lab-TAB）上表现出较少的面部悲伤。在Lab-TAB的痛苦发声、身体挣扎和面部愤怒测量中未发现组间差异；两组在手臂约束过程中愤怒程度均在中间达到峰值。对于脆性X综合征男孩，心理年龄与CBQ中的悲伤得分呈中度正相关，自闭症行为与悲伤得分呈中度负相关。
我们的结果显示，脆性X综合征幼儿的行为特征与脆性X综合征大龄儿童的报道不同，这意味着脆性X综合征大龄儿童中报道的气质差异和问题行为增加可能并非源于早期气质。这些信息对于明确脆性X综合征早期发育的表型以促进早期识别和治疗非常重要。
