Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome

Tatsuhiko Yagihashi, Kenjiro Kosaki, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Takao Takahashi, Yuji Sato, Rika Kosaki

研究成果: Article査読

17 被引用数 (Scopus)


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 (≥14years) displayed statistically significant higher scores for Anxious/Depression (P=0.002) and Aggressive Behavior (P=0.036) than the younger group (≤13years). 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.

ジャーナルCongenital anomalies
出版ステータスPublished - 2012 6月

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 胎生学
  • 発生生物学


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