Department of Psychology, University of South Carolina, 1512 Pendleton Street, Columbia, SC, 29028, USA,
J Neurodev Disord. 2011 Sep;3(3):175-84. doi: 10.1007/s11689-011-9085-4. Epub 2011 Jun 14.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is caused by a CGG repeat expansion at Xq27.3 on the FMR1 gene. The majority of young boys with FXS display poor attention and hyperactivity that is disproportionate to their cognitive disability, and approximately 70% meet diagnostic criteria for attention-deficit/hyperactivity disorder. Psychopharmacology is employed with 82% of young males 5-17 years of age, with stimulant medication as the most common medication prescribed. This study evaluated the effects of stimulant medication on the academic performance, attention, motor activity, and psychophysiological arousal of boys with FXS, as well as the concordance of effects within individuals. Participants in this study included 12 boys with FXS who were treated with stimulants. Participants completed videotaped academic testing on two consecutive days and were randomly assigned to be off stimulants for 1 day and on stimulants the other day. On each day, multiple measures including academic performance, behavior regulation, and psychophysiological arousal were collected. Approximately 75% of participants performed better on attention and academic measures, and 70% showed improved physiological regulation while on stimulant medication. A high degree of concordance among measures was found. Lower intelligence quotient (IQ), but not age, correlated with greater improvements in in-seat behavior. IQ and age did not relate to on-task behaviors. The frequency and magnitude of response to stimulant medication in boys with FXS is higher than those reported for most children with non-specific intellectual disabilities and autism spectrum disorder.
脆性 X 综合征（FXS）是最常见的遗传性智力障碍，由 FMR1 基因上 Xq27.3 处的 CGG 重复扩展引起。大多数患有 FXS 的男童表现出注意力不集中和多动，与其认知障碍不成比例，约 70%符合注意力缺陷/多动障碍的诊断标准。精神药理学在 5-17 岁的年轻男性中应用率为 82%，其中兴奋剂药物是最常见的处方药物。本研究评估了兴奋剂药物对 FXS 男孩的学业成绩、注意力、运动活动和心理生理唤醒的影响，以及个体内的影响一致性。本研究的参与者包括 12 名接受兴奋剂治疗的 FXS 男孩。参与者在连续两天完成录像学术测试，并随机分配在一天停用兴奋剂，另一天使用兴奋剂。在每一天，收集了包括学业成绩、行为调节和心理生理唤醒在内的多项指标。大约 75%的参与者在注意力和学业测量方面表现更好，70%的人在使用兴奋剂时表现出更好的生理调节。测量之间存在高度一致性。较低的智商（IQ），而不是年龄，与在座位上的行为改善相关。智商和年龄与任务相关行为无关。FXS 男孩对兴奋剂药物的反应频率和幅度高于大多数非特定智力障碍和自闭症谱系障碍儿童的报告。
