Yagihashi Tatsuhiko, Kosaki Kenjiro, Okamoto Nobuhiko, Mizuno Seiji, Kurosawa Kenji, Takahashi Takao, Sato Yuji, Kosaki Rika
Department of Pediatrics, Center for Clinical Research, Keio University School of Medicine, Tokyo, Japan.
Congenit Anom (Kyoto). 2012 Jun;52(2):82-6. doi: 10.1111/j.1741-4520.2012.00356.x.
Rubinstein-Taybi syndrome (RTS) is characterized by developmental delay, postnatal growth retardation, typical facial appearance, and broad thumbs and big toes. The behavioral phenotype of children with RTS has been described as friendly and having good social contacts; however, a short attention span and hyperactivity are sometimes present. Little attention has been paid to the behavioral aspects of adults with RTS. We conducted an observational study focusing on behavioral problems in adolescents and adults with RTS compared with children with RTS. A total of 63 patients with RTS and their caretakers answered self-administered questionnaires regarding behavioral features including the Child Behavior Checklist (CBCL). High total CBCL scores were observed, and the mean score was beyond the clinical cut-off point. After stratification into two groups according to age, the older group (≥14 years) displayed statistically significant higher scores for Anxious/Depression (P = 0.002) and Aggressive Behavior (P = 0.036) than the younger group (≤13 years). In analyses of single items, statistically significant differences between the younger group and the older group were found for 'Nervous, high-strung, or tense' (31.3% vs 67.7%, P = 0.004) and 'Too fearful or anxious' (37.5% vs 64.5%, P = 0.032). Here, we showed that the specific behavioral phenotypes of RTS change during adolescence, with anxiety, mood instability, and aggressive behavior emerging as patients age. A clear need exists to follow-up patients with RTS to catch the eventual emergence of psychiatric problems with age. If necessary, pharmacological treatment should be considered.
鲁宾斯坦-泰比综合征（RTS）的特征为发育迟缓、出生后生长发育迟缓、典型面容以及拇指和大脚趾宽阔。RTS患儿的行为表型被描述为友善且社交良好；然而，有时会出现注意力不集中和多动症状。人们对RTS成年患者的行为方面关注较少。我们开展了一项观察性研究，重点关注RTS青少年和成年患者与RTS儿童患者相比的行为问题。共有63例RTS患者及其照料者回答了关于包括儿童行为量表（CBCL）在内的行为特征的自填问卷。观察到CBCL总分较高，且平均分超过临床临界值。根据年龄分为两组后，年龄较大组（≥14岁）在焦虑/抑郁（P = 0.002）和攻击性行为（P = 0.036）方面的得分在统计学上显著高于年龄较小组（≤13岁）。在单项分析中，年龄较小组和年龄较大组在“紧张、神经过敏或焦虑”（31.3%对vs。67.7%，P = 0.004）和“过于恐惧或焦虑”（37.5%对vs。64.5%，P = 0.032）方面存在统计学上的显著差异。在此，我们表明RTS的特定行为表型在青春期会发生变化，随着患者年龄增长会出现焦虑、情绪不稳定和攻击性行为。显然有必要对RTS患者进行随访，以发现随着年龄增长最终出现的精神问题。如有必要，应考虑药物治疗。
