https://scholars.lib.ntu.edu.tw/handle/123456789/527361
標題: | Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan | 作者: | Chin Wong L. Hung P.-L. Jan T.-Y. WANG-TSO LEE Taiwan Rett Syndrome Association |
關鍵字: | CDKL5; MECP2; movement disorders; Rett syndrome; stereotypies | 公開日期: | 2017 | 出版社: | John Wiley and Sons Inc. | 卷: | 10 | 期: | 7 | 起(迄)頁: | 1204-1214 | 來源出版物: | Autism Research | 摘要: | Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and diagnostic criteria. The data were collected using questionnaire. A total 43 cases of typical RTT and 15 cases of atypical RTT, aged from 2.1 to 40.1 years, were enrolled. They included 3 (5.2%) in stage II, 42 (72.4%) in stage III, and 13 (22.4%) in stage IV. All individuals presented with at least one stereotypy. Individuals with atypical RTT had more varied stereotypies (mean: 14 ± 6) compared to those with typical RTT (mean: 9 ± 5) (P = 0.003). Flapping (73.3%) and wringing (58.1%) were the most common hand stereotypies in atypical and typical RTT, respectively. Compared with typical RTT, hair pulling, bruxism, retropulsion, and protrusion of lips were more common in atypical RTT (P = 0.003, P = 0.006, P = 0.003 and <0.001, respectively). The number of stereotypies did not differ among different stages, clinical severities, and hand functions. Although there were no age-related changes in stereotypies in atypical RTT, flapping (P = 0.012), clapping (P = 0.044), and mouthing with single hand (P = 0.009) were significantly more prevalent in individuals aged <10 years with typical RTT, and they decreased after 10 years. In conclusion, our study showed that the stereotypical movements varied in typical and atypical RTT, implying the heterogeneous nature of the disease and the pathogenic mechanisms of RTT with atypical features. Autism Res 2017. ? 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1204–1214. ? 2017 International Society for Autism Research, Wiley Periodicals, Inc. ? 2017 International Society for Autism Research, Wiley Periodicals, Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85014765707&doi=10.1002%2faur.1774&partnerID=40&md5=377834786a67d77d7038fd27c6254efd https://scholars.lib.ntu.edu.tw/handle/123456789/527361 |
ISSN: | 1939-3792 | DOI: | 10.1002/aur.1774 | SDG/關鍵字: | methyl CpG binding protein 2; adolescent; adult; age; Article; child; clinical feature; cohort analysis; comparative study; controlled study; cross-sectional study; disease severity; female; gene mutation; Han Chinese; hand function; human; major clinical study; male; priority journal; questionnaire; Rett syndrome; staging; stereotypy; Taiwan; complication; motor dysfunction; pathophysiology; preschool child; Rett syndrome; young adult; Adolescent; Adult; Child; Child, Preschool; Cross-Sectional Studies; Female; Humans; Male; Rett Syndrome; Stereotypic Movement Disorder; Taiwan; Young Adult |
顯示於: | 醫學系 |
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