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

Dietary intake and growth deficits in Rett syndrome-A cross-section study / Lee-Chin WONG in Autism Research, 14-7 (July 2021)  

Public ISBD [article]  inAutism Research > 14-7 (July 2021) . - p.1512-1521 Titre : Dietary intake and growth deficits in Rett syndrome-A cross-section study Type de document : texte imprimé Auteurs : Lee-Chin WONG, Auteur ; Yen-Tsz CHEN, Auteur ; Shu-Mei TSAI, Auteur ; Yen-Ju LIN, Auteur ; Chia-Jui HSU, Auteur ; Hsin-Pei WANG, Auteur ; Su-Ching HU, Auteur ; Hsiu-Yu SHEN, Auteur ; Wen-Che TSAI, Auteur ; Wang-Tso LEE, Auteur Article en page(s) : p.1512-1521 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Body Height  Eating  Humans  Methyl-CpG-Binding Protein 2/genetics  Mutation  Rett Syndrome/complications/genetics  Rett syndrome  clinical severity  dietary intakes  dystonia  growth deficit  nutrition Index. décimale : PER Périodiques Résumé : Growth deficit is a common comorbidity and one of the supportive criteria in Rett syndrome (RTT). This study aimed to investigate the impact of dystonia, dietary intakes, and clinical severities on growth patterns in a Taiwanese cohort of RTT. We recruited 44 RTT patients with MECP2 mutation for analysis. For individuals ≤18 years of age, in comparison to the RTT-specific growth chart which comprised American RTT cohort, the body height was right-shifted to a higher percentile, whereas the body weight was left-shifted to a lower percentile. Furthermore, the body mass index was significantly decreased when compared to RTT-specific growth chart (p = 0.01). Higher degree of overall disease severity (odd ratio = 1.159; 95% CI = 1.063-1.264; p = 0.001) and hand use impairment (odd ratio = 2.017; 95% CI = 1.037, 3.921; p = 0.039) were associated with more severe growth patterns. All individuals had dystonia at certain variable degrees. The dystonia worsened with age (p < 0.001) but did not have significant impact on growth deficit. Most of our cohort had adequate protein (97.37%) and energy (58.97%) intakes. The fiber intakes were generally low, with about 38 (97.4%) individuals did not meet the daily reference intakes of fiber. The protein intake was significantly lower in individuals with severe growth deficit (p = 0.04). Our study shows that ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. Further, disease severity, genotypes, and nutrition exert important impacts on RTT-growth pattern. LAY SUMMARY: Growth impairment is an important issue in Rett syndrome and the underlying patho-mechanism is multifactorial. Higher degree of overall disease severity and hand use impairment were associated with more severe growth pattern deficits. Although all individuals had dystonia at certain variable degrees and the dystonia worsened with age, but it did not have significant impact on growth deficit. Nutritional intakes may partially affect growth. Furthermore, ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. En ligne : http://dx.doi.org/10.1002/aur.2508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Dietary intake and growth deficits in Rett syndrome-A cross-section study [texte imprimé] / Lee-Chin WONG, Auteur ; Yen-Tsz CHEN, Auteur ; Shu-Mei TSAI, Auteur ; Yen-Ju LIN, Auteur ; Chia-Jui HSU, Auteur ; Hsin-Pei WANG, Auteur ; Su-Ching HU, Auteur ; Hsiu-Yu SHEN, Auteur ; Wen-Che TSAI, Auteur ; Wang-Tso LEE, Auteur . - p.1512-1521. Langues : Anglais (eng) in Autism Research > 14-7 (July 2021) . - p.1512-1521 Mots-clés : Autism Spectrum Disorder  Body Height  Eating  Humans  Methyl-CpG-Binding Protein 2/genetics  Mutation  Rett Syndrome/complications/genetics  Rett syndrome  clinical severity  dietary intakes  dystonia  growth deficit  nutrition Index. décimale : PER Périodiques Résumé : Growth deficit is a common comorbidity and one of the supportive criteria in Rett syndrome (RTT). This study aimed to investigate the impact of dystonia, dietary intakes, and clinical severities on growth patterns in a Taiwanese cohort of RTT. We recruited 44 RTT patients with MECP2 mutation for analysis. For individuals ≤18 years of age, in comparison to the RTT-specific growth chart which comprised American RTT cohort, the body height was right-shifted to a higher percentile, whereas the body weight was left-shifted to a lower percentile. Furthermore, the body mass index was significantly decreased when compared to RTT-specific growth chart (p = 0.01). Higher degree of overall disease severity (odd ratio = 1.159; 95% CI = 1.063-1.264; p = 0.001) and hand use impairment (odd ratio = 2.017; 95% CI = 1.037, 3.921; p = 0.039) were associated with more severe growth patterns. All individuals had dystonia at certain variable degrees. The dystonia worsened with age (p < 0.001) but did not have significant impact on growth deficit. Most of our cohort had adequate protein (97.37%) and energy (58.97%) intakes. The fiber intakes were generally low, with about 38 (97.4%) individuals did not meet the daily reference intakes of fiber. The protein intake was significantly lower in individuals with severe growth deficit (p = 0.04). Our study shows that ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. Further, disease severity, genotypes, and nutrition exert important impacts on RTT-growth pattern. LAY SUMMARY: Growth impairment is an important issue in Rett syndrome and the underlying patho-mechanism is multifactorial. Higher degree of overall disease severity and hand use impairment were associated with more severe growth pattern deficits. Although all individuals had dystonia at certain variable degrees and the dystonia worsened with age, but it did not have significant impact on growth deficit. Nutritional intakes may partially affect growth. Furthermore, ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. En ligne : http://dx.doi.org/10.1002/aur.2508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

The clinical and sleep manifestations in children with FOXG1 syndrome / Lee-Chin WONG in Autism Research, 16-5 (May 2023)  

Public ISBD [article]  inAutism Research > 16-5 (May 2023) . - p.953-966 Titre : The clinical and sleep manifestations in children with FOXG1 syndrome Type de document : texte imprimé Auteurs : Lee-Chin WONG, Auteur ; Cheng-Hsien HUANG, Auteur ; Wan-Yun CHOU, Auteur ; Chia-Jui HSU, Auteur ; Wen-Che TSAI, Auteur ; Wang-Tso LEE, Auteur Article en page(s) : p.953-966 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract FOXG1 syndrome is a rare neurodevelopmental disorder associated with severe cognitive dysfunction, autistic behavior, and early-onset hyperkinetic movement disorders. Patients have also been reported to experience sleep disturbances. However, these findings are mainly based on subjective caregivers' reports, and limited by small case numbers. Moreover, no studies using objective evaluation tools, such as actigraphy, have been reported. We analyzed the clinical and sleep manifestations of children with FOXG1 syndrome registered in the FOXG1 Research Foundation Patient Registry database. A total of 258 individuals with FOXG1 syndrome were included in this research. 132 (51.16%) had sleep disturbances. The more impaired of language acquisitions (absence of speech, OR: 3.99, 95%CI = 1.69-9.42, p?= 0.002), hyperkinetic movement disorders (OR: 2.64, 95%CI = 1.34-5.20 p = 0.005) and feeding difficulties (OR: 2.81, 95% CI = 1.52-5.19, p 0.001) were significantly associated with an increase in odds of sleep disturbance after adjusting for age, sex, and antiepileptic drugs. We also performed sleep studies on six individuals with FOXG1 syndrome using The Children's Sleep Habits Questionnaire (CSHQ), the Sleep Disturbance Scale for Children (SDSC), and 7-day data from Actiwatch. The Pittsburgh Sleep Quality Index (PSQI) and 7-day data from Actiwatch were also used to evaluate the sleep condition of their parents. The CSHQ scores revealed bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night-waking, and parasomnia. Sleep-wake transition disorders and disorders of initiating and maintaining sleep were also suggested by the SDSC scores. The children's actigraphy revealed short sleep durations, impaired sleep efficiency, longer wake after sleep onset, and frequent night-waking. All caregivers reported significantly higher PSQI scores, mildly declined sleep efficiency, and shorter total sleep duration. Sleep disturbances, especially in initiating and maintaining sleep, are common in individuals with FOXG1 syndrome and their caregivers. Sleep disorders in patients with FOXG1 syndrome and their caregivers should be investigated. En ligne : http://dx.doi.org/https://doi.org/10.1002/aur.2916 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=503 [article] The clinical and sleep manifestations in children with FOXG1 syndrome [texte imprimé] / Lee-Chin WONG, Auteur ; Cheng-Hsien HUANG, Auteur ; Wan-Yun CHOU, Auteur ; Chia-Jui HSU, Auteur ; Wen-Che TSAI, Auteur ; Wang-Tso LEE, Auteur . - p.953-966. Langues : Anglais (eng) in Autism Research > 16-5 (May 2023) . - p.953-966 Index. décimale : PER Périodiques Résumé : Abstract FOXG1 syndrome is a rare neurodevelopmental disorder associated with severe cognitive dysfunction, autistic behavior, and early-onset hyperkinetic movement disorders. Patients have also been reported to experience sleep disturbances. However, these findings are mainly based on subjective caregivers' reports, and limited by small case numbers. Moreover, no studies using objective evaluation tools, such as actigraphy, have been reported. We analyzed the clinical and sleep manifestations of children with FOXG1 syndrome registered in the FOXG1 Research Foundation Patient Registry database. A total of 258 individuals with FOXG1 syndrome were included in this research. 132 (51.16%) had sleep disturbances. The more impaired of language acquisitions (absence of speech, OR: 3.99, 95%CI = 1.69-9.42, p?= 0.002), hyperkinetic movement disorders (OR: 2.64, 95%CI = 1.34-5.20 p = 0.005) and feeding difficulties (OR: 2.81, 95% CI = 1.52-5.19, p 0.001) were significantly associated with an increase in odds of sleep disturbance after adjusting for age, sex, and antiepileptic drugs. We also performed sleep studies on six individuals with FOXG1 syndrome using The Children's Sleep Habits Questionnaire (CSHQ), the Sleep Disturbance Scale for Children (SDSC), and 7-day data from Actiwatch. The Pittsburgh Sleep Quality Index (PSQI) and 7-day data from Actiwatch were also used to evaluate the sleep condition of their parents. The CSHQ scores revealed bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night-waking, and parasomnia. Sleep-wake transition disorders and disorders of initiating and maintaining sleep were also suggested by the SDSC scores. The children's actigraphy revealed short sleep durations, impaired sleep efficiency, longer wake after sleep onset, and frequent night-waking. All caregivers reported significantly higher PSQI scores, mildly declined sleep efficiency, and shorter total sleep duration. Sleep disturbances, especially in initiating and maintaining sleep, are common in individuals with FOXG1 syndrome and their caregivers. Sleep disorders in patients with FOXG1 syndrome and their caregivers should be investigated. En ligne : http://dx.doi.org/https://doi.org/10.1002/aur.2916 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=503

The sleep problems in individuals with Rett syndrome and their caregivers / Lee-Chin WONG ; Yen-Ju CHU ; Chia-Jui HSU ; Hsin-Pei WANG ; Wen-Che TSAI ; Wang-Tso LEE in Autism, 28-12 (December 2024)  

Public ISBD [article]  inAutism > 28-12 (December 2024) . - p.3118-3130 Titre : The sleep problems in individuals with Rett syndrome and their caregivers Type de document : texte imprimé Auteurs : Lee-Chin WONG, Auteur ; Yen-Ju CHU, Auteur ; Chia-Jui HSU, Auteur ; Hsin-Pei WANG, Auteur ; Wen-Che TSAI, Auteur ; Wang-Tso LEE, Auteur Article en page(s) : p.3118-3130 Langues : Anglais (eng) Mots-clés : actigraphy  CSHQ  PSQI  Rett syndrome  sleep Index. décimale : PER Périodiques Résumé : Sleep problems are prevalent among individuals with Rett syndrome. We aimed to investigate sleep problems in individuals with Rett syndrome and their caregivers. A total of 29 participants diagnosed with Rett syndrome and their respective 29 caregivers were included. The Children Sleep Habits Questionnaire (CSHQ), the Pittsburgh Sleep Quality Index (PSQI), the Center for Epidemiologic Studies Depression Scale (CES-D), and the actigraphy data collected from Actiwatch 2 were used to investigate the change of sleep pattern. Based on the CSHQ questionnaire, 75.9% (22/29) of the patients reported sleep disturbances. The younger patients exhibited higher CSHQ scores. Actigraphy data revealed that both young and older patients had short total sleep duration, low sleep efficiency, long sleep-onset latency, long awaking duration, and fragmented sleep. The caregivers reported significantly higher PSQI scores, mildly declined sleep efficiency, and shorter total sleep duration in the actigraphy study. Associations were identified between smaller head circumference and shorter total sleep duration, more severe motor dysfunction and longer wake after sleep onset, worsen scoliosis and more awakenings per night. Sleep efficiency was inversely associated with epilepsy and positively associated with somatic growth. Sleep disturbances are common and should be investigated in individuals with Rett syndrome and their caregivers. Lay abstract Sleep problems are common and impactful among individuals with Rett syndrome (RTT) and their caregivers. We examined the sleep patterns of 29 RTT patients and their primary caregivers using various assessment tools. The study found that a majority of the patients experienced sleep disturbances, with younger patients showing more sleep difficulties. Caregivers also reported poor sleep quality. The findings emphasize the need to address sleep problems in RTT management, as improving sleep quality can positively impact the well-being of individuals with RTT and their caregivers. En ligne : https://dx.doi.org/10.1177/13623613241254620 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=543 [article] The sleep problems in individuals with Rett syndrome and their caregivers [texte imprimé] / Lee-Chin WONG, Auteur ; Yen-Ju CHU, Auteur ; Chia-Jui HSU, Auteur ; Hsin-Pei WANG, Auteur ; Wen-Che TSAI, Auteur ; Wang-Tso LEE, Auteur . - p.3118-3130. Langues : Anglais (eng) in Autism > 28-12 (December 2024) . - p.3118-3130 Mots-clés : actigraphy  CSHQ  PSQI  Rett syndrome  sleep Index. décimale : PER Périodiques Résumé : Sleep problems are prevalent among individuals with Rett syndrome. We aimed to investigate sleep problems in individuals with Rett syndrome and their caregivers. A total of 29 participants diagnosed with Rett syndrome and their respective 29 caregivers were included. The Children Sleep Habits Questionnaire (CSHQ), the Pittsburgh Sleep Quality Index (PSQI), the Center for Epidemiologic Studies Depression Scale (CES-D), and the actigraphy data collected from Actiwatch 2 were used to investigate the change of sleep pattern. Based on the CSHQ questionnaire, 75.9% (22/29) of the patients reported sleep disturbances. The younger patients exhibited higher CSHQ scores. Actigraphy data revealed that both young and older patients had short total sleep duration, low sleep efficiency, long sleep-onset latency, long awaking duration, and fragmented sleep. The caregivers reported significantly higher PSQI scores, mildly declined sleep efficiency, and shorter total sleep duration in the actigraphy study. Associations were identified between smaller head circumference and shorter total sleep duration, more severe motor dysfunction and longer wake after sleep onset, worsen scoliosis and more awakenings per night. Sleep efficiency was inversely associated with epilepsy and positively associated with somatic growth. Sleep disturbances are common and should be investigated in individuals with Rett syndrome and their caregivers. Lay abstract Sleep problems are common and impactful among individuals with Rett syndrome (RTT) and their caregivers. We examined the sleep patterns of 29 RTT patients and their primary caregivers using various assessment tools. The study found that a majority of the patients experienced sleep disturbances, with younger patients showing more sleep difficulties. Caregivers also reported poor sleep quality. The findings emphasize the need to address sleep problems in RTT management, as improving sleep quality can positively impact the well-being of individuals with RTT and their caregivers. En ligne : https://dx.doi.org/10.1177/13623613241254620 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=543

---

1 (1 - 4 / 4) Par page : 25 50 100 200