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

Investigating the impact of probiotic on neurological outcomes in Rett syndrome: A randomized, double-blind, and placebo-controlled pilot study / Chia-Jui HSU ; Yen-Tzu WU ; Hsu-Feng CHU ; Jui-Hsiang LIN ; Hsin-Pei WANG ; Su-Ching HU ; Ying-Chieh TSAI ; Wen-Che TSAI ; Wang-Tso LEE in Autism, 28-9 (September 2024)  

Public ISBD [article]  inAutism > 28-9 (September 2024) . - p.2267-2281 Titre : Investigating the impact of probiotic on neurological outcomes in Rett syndrome: A randomized, double-blind, and placebo-controlled pilot study Type de document : texte imprimé Auteurs : Chia-Jui HSU, Auteur ; Yen-Tzu WU, Auteur ; Hsu-Feng CHU, Auteur ; Jui-Hsiang LIN, Auteur ; Hsin-Pei WANG, Auteur ; Su-Ching HU, Auteur ; Ying-Chieh TSAI, Auteur ; Wen-Che TSAI, Auteur ; Wang-Tso LEE, Auteur Article en page(s) : p.2267-2281 Langues : (en) Mots-clés : dystonia  microbiota-gut-brain axis  probiotics  Rett syndrome Index. décimale : PER Périodiques Résumé : This pilot study investigates the feasibility and assesses the impact of Lactobacillus plantarum PS128 probiotics on the neurological function in Rett syndrome. We conducted a randomized, double-blind, and placebo-controlled trial on Rett syndrome with MECP2 mutation aged between 1 and 50 years in Taiwan. In this pilot study, twice-daily L. plantarum PS128 or placebo was administered for 16 weeks. In addition to feasibility, we also assessed the changes utilizing the Mullen Scales of Early Learning. In total, 36 participants were finally randomized into L. plantarum PS128 (n = 18) or placebo (n = 18) groups. At the end of intervention, the retention rates were 100% for L. plantarum PS128 and 94.44% for placebo, with withdrawal rates of 5.56% for the placebo group. Both groups tolerated well, except for one L. plantarum PS128 participant who reported loose stool. The probiotic group showed a change of 2.19+3.76, while the placebo group had 0.85+5.09 (p = 0.051) in the total age-equivalent scores of Mullen Scales of Early Learning. There was a significant difference in the change of the total score on the Burke-Fahn-Marsden Movement Scale between probiotc group and placebo group ( 12.19+12.12 vs 4.59+4.20, p = 0.020). In leg dystonia, the probiotic group exhibited a change of 4.11+5.11 compared with 0.38+1.50 in the placebo group (p = 0.008). Our findings affirm the feasibility of L. plantarum PS128 in Rett syndrome. Future clinical trials are mandatory to further explore its long-term impact on Rett syndrome. Lay abstract Rett syndrome often involves gastrointestinal symptoms and gut microbiota imbalances. We conducted a study to explore the feasibility of probiotic Lactobacillus plantarum PS128 and the impact on neurological functions in Rett syndrome. The results of our investigation demonstrated that the supplementation of probiotic L. plantarum PS128 was feasible and well tolerated, with 100% retention rate and 0% withdrawal rate. In addition, there was only one participant who had loose stool after taking L. plantarum PS128. Further, there was a tendency to enhance overall cognitive developmental level, as assessed using Mullen Scales of Early Learning. In addition, it significantly improved dystonia, as assessed using the Burke-Fahn-Marsden Movement Scale, in comparison with the placebo group. This study provides a strong foundation for future research and clinical trials exploring the potential of L. plantarum PS128 probiotics as a complementary therapy for individuals with Rett syndrome. En ligne : https://dx.doi.org/10.1177/13623613231225899 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=535 [article] Investigating the impact of probiotic on neurological outcomes in Rett syndrome: A randomized, double-blind, and placebo-controlled pilot study [texte imprimé] / Chia-Jui HSU, Auteur ; Yen-Tzu WU, Auteur ; Hsu-Feng CHU, Auteur ; Jui-Hsiang LIN, Auteur ; Hsin-Pei WANG, Auteur ; Su-Ching HU, Auteur ; Ying-Chieh TSAI, Auteur ; Wen-Che TSAI, Auteur ; Wang-Tso LEE, Auteur . - p.2267-2281. Langues : (en) in Autism > 28-9 (September 2024) . - p.2267-2281 Mots-clés : dystonia  microbiota-gut-brain axis  probiotics  Rett syndrome Index. décimale : PER Périodiques Résumé : This pilot study investigates the feasibility and assesses the impact of Lactobacillus plantarum PS128 probiotics on the neurological function in Rett syndrome. We conducted a randomized, double-blind, and placebo-controlled trial on Rett syndrome with MECP2 mutation aged between 1 and 50 years in Taiwan. In this pilot study, twice-daily L. plantarum PS128 or placebo was administered for 16 weeks. In addition to feasibility, we also assessed the changes utilizing the Mullen Scales of Early Learning. In total, 36 participants were finally randomized into L. plantarum PS128 (n = 18) or placebo (n = 18) groups. At the end of intervention, the retention rates were 100% for L. plantarum PS128 and 94.44% for placebo, with withdrawal rates of 5.56% for the placebo group. Both groups tolerated well, except for one L. plantarum PS128 participant who reported loose stool. The probiotic group showed a change of 2.19+3.76, while the placebo group had 0.85+5.09 (p = 0.051) in the total age-equivalent scores of Mullen Scales of Early Learning. There was a significant difference in the change of the total score on the Burke-Fahn-Marsden Movement Scale between probiotc group and placebo group ( 12.19+12.12 vs 4.59+4.20, p = 0.020). In leg dystonia, the probiotic group exhibited a change of 4.11+5.11 compared with 0.38+1.50 in the placebo group (p = 0.008). Our findings affirm the feasibility of L. plantarum PS128 in Rett syndrome. Future clinical trials are mandatory to further explore its long-term impact on Rett syndrome. Lay abstract Rett syndrome often involves gastrointestinal symptoms and gut microbiota imbalances. We conducted a study to explore the feasibility of probiotic Lactobacillus plantarum PS128 and the impact on neurological functions in Rett syndrome. The results of our investigation demonstrated that the supplementation of probiotic L. plantarum PS128 was feasible and well tolerated, with 100% retention rate and 0% withdrawal rate. In addition, there was only one participant who had loose stool after taking L. plantarum PS128. Further, there was a tendency to enhance overall cognitive developmental level, as assessed using Mullen Scales of Early Learning. In addition, it significantly improved dystonia, as assessed using the Burke-Fahn-Marsden Movement Scale, in comparison with the placebo group. This study provides a strong foundation for future research and clinical trials exploring the potential of L. plantarum PS128 probiotics as a complementary therapy for individuals with Rett syndrome. En ligne : https://dx.doi.org/10.1177/13623613231225899 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=535

The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients / Chia-Jui HSU in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients Type de document : texte imprimé Auteurs : Chia-Jui HSU, Auteur ; Lee Chin WONG, Auteur ; Hsin-Pei WANG, Auteur ; Yi-Chun CHUNG, Auteur ; Te-Wei KAO, Auteur ; Chen-Hsiang WENG, Auteur ; Wen-Chau WU, Auteur ; Shinn-Forng PENG, Auteur ; Wen-Yih Isaac TSENG, Auteur ; Wang-Tso LEE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Tourette Syndrome/diagnostic imaging/pathology  Prospective Studies  Brain/diagnostic imaging/pathology  Diffusion Magnetic Resonance Imaging  Brain Mapping  Diffusion spectrum imaging  False discovery rate  Frontostriatal  Gilles de la Tourette syndrome  Pediatric neurology Index. décimale : PER Périodiques Résumé : BACKGROUND: Gilles de la Tourette syndrome (GTS) is a prevalent pediatric neurological disorder. Most studies point to abnormalities in the cortico-striato-thalamocortical (CSTC) circuits. Neuroimaging studies have shown GTS's extensive impact on the entire brain. However, due to participant variability and potential drug and comorbidity impact, the results are inconsistent. To mitigate the potential impact of participant heterogeneity, we excluded individuals with comorbidities or those currently undergoing medication treatments. Based on the hypothesis of abnormality within the CSTC circuit, we investigated microstructural changes in white matter using diffusion spectrum imaging (DSI). This study offers the first examination of microstructural changes in treatment-naïve pediatric patients with pure GTS using diffusion spectrum imaging. METHODS: This single-center prospective study involved 30 patients and 30 age- and gender-matched healthy volunteers who underwent sagittal T1-weighted MRI and DSI. We analyzed generalized fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity. RESULTS: No significant differences were observed in mean diffusivity and axial diffusivity values between the two groups. However, the patient group exhibited significantly higher generalized fractional anisotropy values in the right frontostriatal tract of the dorsolateral prefrontal cortex, the right frontostriatal tract of the precentral gyrus, and bilateral thalamic radiation of the dorsolateral prefrontal cortex. Additionally, the generalized fractional anisotropy value of the right frontostriatal tract of the precentral gyrus is inversely correlated with the total tic severity scores at the most severe condition. CONCLUSION: Treatment-naïve pediatric GTS patients demonstrated increased connectivity within the CSTC circuit as per diffusion spectrum imaging, indicating possible CSTC circuit dysregulation. This finding could also suggest a compensatory change. It thus underscores the necessity of further investigation into the fundamental pathological changes in GTS. Nevertheless, the observed altered connectivity in GTS patients might serve as a potential target for therapeutic intervention. En ligne : https://dx.doi.org/10.1186/s11689-023-09501-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients [texte imprimé] / Chia-Jui HSU, Auteur ; Lee Chin WONG, Auteur ; Hsin-Pei WANG, Auteur ; Yi-Chun CHUNG, Auteur ; Te-Wei KAO, Auteur ; Chen-Hsiang WENG, Auteur ; Wen-Chau WU, Auteur ; Shinn-Forng PENG, Auteur ; Wen-Yih Isaac TSENG, Auteur ; Wang-Tso LEE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Tourette Syndrome/diagnostic imaging/pathology  Prospective Studies  Brain/diagnostic imaging/pathology  Diffusion Magnetic Resonance Imaging  Brain Mapping  Diffusion spectrum imaging  False discovery rate  Frontostriatal  Gilles de la Tourette syndrome  Pediatric neurology Index. décimale : PER Périodiques Résumé : BACKGROUND: Gilles de la Tourette syndrome (GTS) is a prevalent pediatric neurological disorder. Most studies point to abnormalities in the cortico-striato-thalamocortical (CSTC) circuits. Neuroimaging studies have shown GTS's extensive impact on the entire brain. However, due to participant variability and potential drug and comorbidity impact, the results are inconsistent. To mitigate the potential impact of participant heterogeneity, we excluded individuals with comorbidities or those currently undergoing medication treatments. Based on the hypothesis of abnormality within the CSTC circuit, we investigated microstructural changes in white matter using diffusion spectrum imaging (DSI). This study offers the first examination of microstructural changes in treatment-naïve pediatric patients with pure GTS using diffusion spectrum imaging. METHODS: This single-center prospective study involved 30 patients and 30 age- and gender-matched healthy volunteers who underwent sagittal T1-weighted MRI and DSI. We analyzed generalized fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity. RESULTS: No significant differences were observed in mean diffusivity and axial diffusivity values between the two groups. However, the patient group exhibited significantly higher generalized fractional anisotropy values in the right frontostriatal tract of the dorsolateral prefrontal cortex, the right frontostriatal tract of the precentral gyrus, and bilateral thalamic radiation of the dorsolateral prefrontal cortex. Additionally, the generalized fractional anisotropy value of the right frontostriatal tract of the precentral gyrus is inversely correlated with the total tic severity scores at the most severe condition. CONCLUSION: Treatment-naïve pediatric GTS patients demonstrated increased connectivity within the CSTC circuit as per diffusion spectrum imaging, indicating possible CSTC circuit dysregulation. This finding could also suggest a compensatory change. It thus underscores the necessity of further investigation into the fundamental pathological changes in GTS. Nevertheless, the observed altered connectivity in GTS patients might serve as a potential target for therapeutic intervention. En ligne : https://dx.doi.org/10.1186/s11689-023-09501-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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

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