Developmental change of brain volume in Rett syndrome in Taiwan / Tz-Yun JAN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Developmental change of brain volume in Rett syndrome in Taiwan Type de document : texte imprimé Auteurs : Tz-Yun JAN, Auteur ; Lee-Chin WONG, Auteur ; Chia-Jui HSU, Auteur ; Chien-Feng Judith HUANG, Auteur ; Steven Shinn-Forng PENG, Auteur ; Wen-Yih Isaac TSENG, Auteur ; Wang-Tso LEE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Rett Syndrome/diagnostic imaging/physiopathology/pathology  Female  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology/growth & development  Adult  Child  Young Adult  Child, Preschool  Adolescent  Taiwan  Gray Matter/diagnostic imaging/pathology  Male  Organ Size  White Matter/diagnostic imaging/pathology  Brain volume  Developmental trajectories  Gray matter volume  Magnetic resonance image  Rett syndrome  Total intracranial volume  article. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on brain volume reduction by analyzing magnetic resonance imaging findings in participants with RTT, ranging from toddlers to adults. METHODS: Functional evaluation and neuroimaging were performed. All scans were acquired using a Siemens Tim Trio 3 T scanner with a 32-channel head coil. RESULTS: The total intracranial volume and cerebral white matter volume significantly increased with age in the control group compared with that in the RTT group (p < 0.05). Cortical gray matter volume reduction in the RTT group continued to increase in bilateral parietal lobes and left occipital lobes (p < 0.05). The differences in cortical gray matter volume between typically developing brain and RTT-affected brain may tend to continuously increase until adulthood in both temporal lobes although not significant after correction for multiple comparison. CONCLUSIONS: A significant reduction in brain volume was observed in the RTT group. Cortical gray matter volume in the RTT group continued to reduce in bilateral parietal lobes and left occipital lobes. These results provide a baseline for future studies on the effect of RTT treatment and related neuroscience research. En ligne : https://dx.doi.org/10.1186/s11689-024-09549-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Developmental change of brain volume in Rett syndrome in Taiwan [texte imprimé] / Tz-Yun JAN, Auteur ; Lee-Chin WONG, Auteur ; Chia-Jui HSU, Auteur ; Chien-Feng Judith HUANG, Auteur ; Steven Shinn-Forng PENG, Auteur ; Wen-Yih Isaac TSENG, Auteur ; Wang-Tso LEE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Rett Syndrome/diagnostic imaging/physiopathology/pathology  Female  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology/growth & development  Adult  Child  Young Adult  Child, Preschool  Adolescent  Taiwan  Gray Matter/diagnostic imaging/pathology  Male  Organ Size  White Matter/diagnostic imaging/pathology  Brain volume  Developmental trajectories  Gray matter volume  Magnetic resonance image  Rett syndrome  Total intracranial volume  article. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on brain volume reduction by analyzing magnetic resonance imaging findings in participants with RTT, ranging from toddlers to adults. METHODS: Functional evaluation and neuroimaging were performed. All scans were acquired using a Siemens Tim Trio 3 T scanner with a 32-channel head coil. RESULTS: The total intracranial volume and cerebral white matter volume significantly increased with age in the control group compared with that in the RTT group (p < 0.05). Cortical gray matter volume reduction in the RTT group continued to increase in bilateral parietal lobes and left occipital lobes (p < 0.05). The differences in cortical gray matter volume between typically developing brain and RTT-affected brain may tend to continuously increase until adulthood in both temporal lobes although not significant after correction for multiple comparison. CONCLUSIONS: A significant reduction in brain volume was observed in the RTT group. Cortical gray matter volume in the RTT group continued to reduce in bilateral parietal lobes and left occipital lobes. These results provide a baseline for future studies on the effect of RTT treatment and related neuroscience research. En ligne : https://dx.doi.org/10.1186/s11689-024-09549-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan / Lee CHIN WONG in Autism Research, 10-7 (July 2017)  

Public ISBD [article]  inAutism Research > 10-7 (July 2017) . - p.1204-1214 Titre : Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan Type de document : texte imprimé Auteurs : Lee CHIN WONG, Auteur ; Pi-Lien HUNG, Auteur ; Tz-Yun JAN, Auteur ; Wang-Tso LEE, Auteur ; Association TAIWAN RETT SYNDROME, Auteur Article en page(s) : p.1204-1214 Langues : Anglais (eng) Mots-clés : stereotypies  Rett syndrome  MECP2  CDKL5  movement disorders Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.1774 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=309 [article] Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan [texte imprimé] / Lee CHIN WONG, Auteur ; Pi-Lien HUNG, Auteur ; Tz-Yun JAN, Auteur ; Wang-Tso LEE, Auteur ; Association TAIWAN RETT SYNDROME, Auteur . - p.1204-1214. Langues : Anglais (eng) in Autism Research > 10-7 (July 2017) . - p.1204-1214 Mots-clés : stereotypies  Rett syndrome  MECP2  CDKL5  movement disorders Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.1774 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=309

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