Cortisol and behavior in fragile X syndrome

Cortisol and behavior in fragile X syndrome
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DOI:
10.1016/s0306-4530(01)00087-7
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发表时间:
2002-10-01
影响因子:
3.7
通讯作者:
Reiss, AL
Reiss, AL
中科院分区:
医学2区
文献类型:
--
作者:
Hessl, D;Glaser, B;Reiss, AL

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目的:这项研究的目的是确定脆性X综合征儿童是否有皮质醇水平升高,皮质醇是一种与压力相关的激素,这些儿童典型地表现为神经行为表型,包括社交焦虑、退缩和高度唤醒。方法:109名脆性X全突变儿童(男性70名,女性39名)及其未受影响的兄弟姐妹(男性51名,女性58名)完成了一项家庭评估,包括认知评估和结构化的社会挑战任务。在整个评估日和两个典型的非上学日,收集了多个唾液皮质醇样本。还收集了脆性X智力低下(FMRI)基因、儿童智力、家庭环境质量、父母精神病理学以及教育和治疗服务的有效性等指标。使用线性混合效应分析来检验与脆性X诊断相关的皮质醇的差异和性别(固定效应),并估计皮质醇激素水平的个体受试者和家族变异(随机效应)。在控制了显著的遗传和环境因素后,采用分层多元回归分析来确定肾上腺皮质活动是否与行为问题有关。结果:结果显示,脆性X儿童,特别是男性,在典型日子和评估期间唾液皮质醇水平较高。检测到对唾液皮质醇有非常显著的家族效应,这与先前记录的遗传和环境对肾上腺皮质活动的影响一致。在脆性X综合征患儿中,皮质醇升高与行为问题显著相关,而在其未受影响的兄弟姐妹中则不显著。结论:这些结果提供了证据,证明下丘脑-垂体肾上腺轴功能可能与脆性X综合征儿童的行为问题有独立的关联。(C)2002爱思唯尔科学有限公司。保留所有权利。
Objective: The purpose of this study was to determine if children with fragile X syndrome, who typically demonstrate a neurobehavioral phenotype that includes social anxiety, withdrawal, and hyper-arousal, have increased levels of cortisol, a hormone associated with stress. The relevance of adrenocortical activity to the fragile X phenotype also was examined.Method: One hundred and nine children with the fragile X full mutation (70 males and 39 females) and their unaffected siblings (51 males and 58 females) completed an in-home evaluation including a cognitive assessment and a structured social challenge task. Multiple samples of salivary cortisol were collected throughout the evaluation day and on two typical non-school days. Measures of the fragile X mental retardation (FMRI) gene, child intelligence, the quality of the home environment, parental psychopathology, and the effectiveness of educational and therapeutic services also were collected. Linear mixed-effects analyses were used to examine differences in cortisol associated with the fragile X diagnosis and gender (fixed effects) and to estimate individual subject and familial variation (random effects) in cortisol hormone levels. Hierarchical multiple regression analyses were conducted to determine whether adrenocortical activity is associated with behavior problems after controlling for significant genetic and environmental factors.Results: Results showed that children with fragile X, especially males, had higher levels of salivary cortisol on typical days and during the evaluation. Highly significant family effects on salivary cortisol were detected, consistent with previous work documenting genetic and environmental influences on adrenocortical activity. Increased cortisol was significantly associated with behavior problems in boys and girls with fragile X but not in their unaffected siblings.Conclusions: These results provide evidence that the function of the hypothalamic-pituitary adrenal axis may have an independent association with behavioral problems in children with fragile X syndrome. (C) 2002 Elsevier Science Ltd. All rights reserved.