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1. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

Author

Monica H. Wojcik, Siddharth Srivastava, Pankaj B. Agrawal, Tugce B. Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra‐Clarke, Matthew Edwards, Casie A. Genetti, Dorothy K. Grange, Scott E. Hickey, Bertrand Isidor, Sébastien Küry, Herbert M. Lachman, Alinoe Lavillaureix, Michael J. Lyons, Carlo Marcelis, Elysa J. Marco, Julian A. Martinez‐Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J. Prijoles, Evelise Riberi, Eric T. Rush, Bianca E. Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A. Stevenson, Kate Wilson, Sandra Jansen, Bert B. A. de Vries, and Cynthia J. Curry

Subjects
All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Genetics (clinical)
Abstract

Item does not contain fulltext Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS. Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8.75 years (range 8 months to 62 years). Four families document autosomal dominant transmission, and 32/34 probands were diagnosed via exome sequencing. The facial gestalt, including a broad forehead and broad mouth with a thin and tented upper lip, was most recognizable between 18 and 48 months of age. Common manifestations included global developmental delay (35/36, 97%), hypotonia (25/34, 74%), short stature (14/33, 42%), constipation (22/31, 71%), and cyclic vomiting (6/35, 17%). Distinctive personality traits include a hypersocial affect (21/31, 68%) and moderate-to-severe anxiety (18/28, 64%). In conclusion, JdVS is a clinically recognizable neurodevelopmental syndrome with a characteristic personality and distinctive facial features. The association of pathogenic variants in PPM1D with cyclic vomiting bears not only medical attention but also further pathogenic and mechanistic evaluation. 01 juli 2023

Published
2023

2. Sleep characteristics and health-related quality of life in 9- to 11-year-old children from 12 countries

Author

Qian Xiao, Jean-Philippe Chaput, Timothy Olds, Mikael Fogelholm, Gang Hu, Estelle V. Lambert, Carol Maher, Jose Maia, Vincent Onywera, Olga L. Sarmiento, Martyn Standage, Mark S. Tremblay, Catrine Tudor-Locke, Peter T. Katzmarzyk, Timothy S. Church, Denise G. Lambert, Tiago Barreira, Stephanie Broyles, Ben Butitta, Catherine Champagne, Shannon Cocreham, Kara D. Denstel, Katy Drazba, Deirdre Harrington, William Johnson, Dione Milauskas, Emily Mire, Allison Tohme, Ruben Rodarte, Bobby Amoroso, John Luopa, Rebecca Neiberg, Scott Rushing, null Timothy Olds, Lucy Lewis, Katia Ferrar, Effie Georgiadis, Rebecca Stanley, Victor Keihan Rodrigues Matsudo, Sandra Matsudo, Timoteo Araujo, Luis Carlos de Oliveira, Luis Fabiano, Diogo Bezerra, Gerson Ferrari, Priscilla Bélanger, Mike Borghese, Charles Boyer, Allana LeBlanc, Claire Francis, Geneviève Leduc, Pei Zhao, Chengming Diao, Wei Li, Weiqin Li, Enqing Liu, Gongshu Liu, Hongyan Liu, Jian Ma, Yijuan Qiao, Huiguang Tian, Yue Wang, Tao Zhang, Fuxia Zhang, Olga Sarmiento, Julio Acosta, Yalta Alvira, Maria Paula Diaz, Rocio Gamez, Maria Paula Garcia, Luis Guillermo Gómez, Lisseth Gonzalez, Silvia Gonzalez, Carlos Grijalba, Leidys Gutierrez, David Leal, Nicolas Lemus, Etelvina Mahecha, Maria Paula Mahecha, Rosalba Mahecha, Andrea Ramirez, Paola Rios, Andres Suarez, Camilo Triana, Elli Jalo, Jemina Kivelä, Sari Räsänen, Sanna Roito, Taru Saloheimo, Leena Arjanne, Anura Kurpad, Rebecca Kuriyan, Deepa P. Lokesh, Michelle Stephanie D'Almeida, Annie Mattilda R, Lygia Correa, Vijay Dakshina Murthy, Lucy-Joy Wachira, Stella Muthuri, Alessandra da Silva Borges, Sofia Oliveira Sá Cachada, Raquel Nichele de Chaves, Thayse Natacha Queiroz Ferreira Gomes, Sara Isabel Sampaio Pereira, Daniel Monteiro de Vilhena e Santos, Fernanda Karina dos Santos, Pedro Gil Rodrigues da Silva, Michele Caroline de Souza, Vicki Lambert, Matthew April, Monika Uys, Nirmala Naidoo, Nandi Synyanya, Madelaine Carstens, Sean Cumming, Clemens Drenowatz, Lydia Emm, Fiona Gillison, Julia Zakrzewski, Ashley Braud, Sheletta Donatto, Corbin Lemon, Ana Jackson, Ashunti Pearson, Gina Pennington, Daniel Ragus, Ryan Roubion, John Schuna, Derek Wiltz, University of Helsinki, Department of Food and Nutrition, University of Helsinki, Faculty of Medicine, University of Helsinki, HUS Internal Medicine and Rehabilitation, Xiao, Qian, Chaput, Jean-Philippe, Olds, Timothy, Fogelholm, Mikael, Hu, Gang, Lambert, Estelle V, Maher, Carol, Maia, Jose, Onywera, Vincent, Sarmiento, Olga L, Standage, Martyn, Tremblay, Mark S, Tudor-Locke, Catrine, Katzmarzyk, Peter T, Lewis, Lucy, Ferrar, Katia, Georgiadis, Effie, Stanley, Rebecca, and ISCOLE Research Group

Subjects
Male, Time Factors, total sleep time, Sleep efficiency, Sleep timing, Global Health, Behavioral Neuroscience, 0302 clinical medicine, Surveys and Questionnaires, health related quality of life, Medicine, 030212 general & internal medicine, DEPRIVATION, Child, RISK, OUTCOMES, Short sleep, sleep efficiency, ASSOCIATION, Multilevel regression, Human development (humanity), 3. Good health, TIME, Poor sleep, Female, SCHOOL-AGED CHILDREN, DURATION, Bedtime, 03 medical and health sciences, SDG 3 - Good Health and Well-being, ACADEMIC-ACHIEVEMENT, Humans, Total sleep time, Health related quality of life, Sleep duration, business.industry, 3112 Neurosciences, Sleep assessment, Actigraphy, sleep timing, PHYSICAL-ACTIVITY, Quality of Life, RC0321, PATTERNS, sleep duration, Sleep, business, 030217 neurology & neurosurgery, Demography
Abstract

Introduction: Previous studies have linked short sleep duration, poor sleep quality, and late sleep timing with lower health-related quality of life (HRQoL) in children. However, almost all studies relied solely on self-reported sleep information, and most studies were conducted in high-income countries. To address these gaps, we studied both device-measured and self-reported sleep characteristics in relation to HRQoL in a sample of children from 12 countries that vary widely in terms of economic and human development. Methods: The study sample included 6,626 children aged 9-11 years from Australia, Brazil, Canada, China, Colombia, Finland, India, Kenya, Portugal, South Africa, the United Kingdom, and the United States. Waist-worn actigraphy was used to measure total sleep time, bedtime, wake-up time, and sleep efficiency on both weekdays and weekends. Children also reported ratings of sleep quantity and quality. HRQoL was measured by the KIDSCREEN-10 survey. Multilevel regression models were used to determine the relationships between sleep characteristics and HRQoL. Results: Results showed considerable variation in sleep characteristics, particularly duration and timing, across study sites. Overall, we found no association between device-measured total sleep time, sleep timing or sleep efficiency, and HRQoL. In contrast, self-reported ratings of poor sleep quantity and quality were associated with HRQoL. Conclusions: Self-reported, rather than device-based, measures of sleep are related to HRQoL in children. The discrepancy related to sleep assessment methods highlights the importance of considering both device-measured and self-reported measures of sleep in understanding its health effects. (c) 2019 National Sleep Foundation. Published by Elsevier Inc. All rights reserved.

Published
2020
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3. Association between breakfast frequency and physical activity and sedentary time: a cross-sectional study in children from 12 countries

Author

K Zakrzewski-Fruer 1, Julia, B Gillison 2, Fiona, T Katzmarzyk 3, Peter, F Mire 3, Emily, T Broyles 3, Stephanie, M Champagne 3, Catherine, Jean-Philippe Chaput, 4, D Denstel 3, Kara, Mikael Fogelholm, 5, Gang Hu, 3, V Lambert 6, Estelle, Carol Maher, 7, José Maia, 8, Tim Olds, 7, Vincent Onywera, 9, Olga, L Sarmiento 10, S Tremblay 4, Mark, Catrine Tudor-Locke, 3 11, Martyn Standage 12, ISCOLE Research Group: Peter, T Katzmarzyk, Denise, G Lambert, Tiago, Barreira, Stephanie, Broyles, Ben, Butitta, Catherine, Champagne, Shannon, Cocreham, Kara, Denstel, Katy, Drazba, Deirdre, Harrington, William, Johnson, Dione, Milauskas, Emily, Mire, Allison, Tohme, Ruben, Rodarte, Bobby, Amoroso, John, Luopa, Rebecca, Neiberg, Scott, Rushing, Timothy, Olds, Carol, Maher, Lucy, Lewis, Katia, Ferrar, Effie, Georgiadis, Rebecca, Stanley, Victor Keihan Rodrigues Matsudo, Sandra, Matsudo, Timoteo, Araujo, Luis Carlos de Oliveira, Leandro, Rezende, Luis, Fabiano, Diogo, Bezerra, Gerson, Ferrari, Mark, S Tremblay, Jean-Philippe, Chaput, Priscilla, Bélanger, Mike, Borghese, Charles, Boyer, Allana, Leblanc, Claire, Francis, Geneviève, Leduc, Pei Zhao Gang Hu, Chengming, Diao, Wei, Li, Weiqin, Li, Enqing, Liu, Gongshu, Liu, Hongyan, Liu, Jian, Ma, Yijuan, Qiao, Huiguang, Tian, Yue, Wang, Tao, Zhang, Fuxia, Zhang, Olga, Sarmiento, Julio, Acosta, Yalta, Alvira, Maria Paula Diaz, Rocio, Gamez, Maria Paula Garcia, Luis Guillermo Gómez, Lisseth, Gonzalez, Silvia, Gonzalez, Carlos, Grijalba, Leidys, Gutierrez, David, Leal, Nicolas, Lemus, Etelvina, Mahecha, Maria Paula Mahecha, Rosalba, Mahecha, Andrea, Ramirez, Paola, Rios, Andres, Suarez, Camilo, Triana, Mikael, Fogelholm, Elli, Hovi, Jemina, Kivelä, Sari, Räsänen, Sanna, Roito, Taru, Saloheimo, Leena, Valta, Anura, Kurpad, Rebecca, Kuriyan, Deepa, P Lokesh, Michelle Stephanie D'Almeida, R Annie Mattilda, Lygia, Correa, Vijay, D, Vincent, Onywera, Lucy-Joy, Wachira, Stella, Muthuri, Jose, Maia, Alessandra da Silva Borges, Sofia Oliveira Sá Cachada, Raquel Nichele de Chaves, Thayse Natacha Queiroz Ferreira Gomes, Sara Isabel Sampaio Pereira, Daniel Monteiro de Vilhena, E Santos, Fernanda Karina Dos Santos, Pedro Gil Rodrigues da Silva, Michele Caroline de Souza, Vicki, Lambert, Matthew, April, Monika, Uys, Nirmala, Naidoo, Nandi, Synyanya, Madelaine, Carstens, Martyn, Standage, Sean, Cumming, Clemens, Drenowatz, Lydia, Emm, Fiona, Gillison, Julia, Zakrzewski, Catrine, Tudor-Locke, Ashley, Braud, Sheletta, Donatto, Corbin, Lemon, Ana, Jackson, Ashunti, Pearson, Gina, Pennington, Daniel, Ragus, Ryan, Roubion, John Schuna Jr, Derek, Wiltz, Alan, Batterham, Jacqueline, Kerr, Michael, Pratt, Pietrobelli, Angelo, University of Helsinki, Department of Food and Nutrition, Nutrition Science, HUS Internal Medicine and Rehabilitation, Zakrzewski-Fruer, Julia K, Gillison, Fiona B, Katzmarzyk, Peter T, Mire, Emily F, Broyles, Stephanie T, Champagne, Catherine M, Chaput, Jean Philippe, Denstel, Kara D, Fogelholm, Mikael, Hu, Gang, Lambert, Estelle V, Maher, Carol, Maia, José, Olds, Tim, Onywera, Vincent, Sarmiento, Olga L, Tremblay, Mark S, Tudor-Locke, Catrine, Standage, Martyn, and ISCOLE Research Group

Subjects
Male, Pediatric Obesity, Youth, Cross-sectional study, RA773, Body Mass Index, 0302 clinical medicine, RA0421, Accelerometry, ADOLESCENTS, Epidemiology, Medicine, 030212 general & internal medicine, Child, Morning, 2. Zero hunger, sedentart time - breackfast - body composition - pediatric, lcsh:Public aspects of medicine, digestive, oral, and skin physiology, SDG 10 - Reduced Inequalities, Fasting, RANDOMIZED CONTROLLED-TRIAL, 3142 Public health care science, environmental and occupational health, Health, International, Multilevel Analysis, Female, NUTRITION, SCHOOL-AGED CHILDREN, ENERGY-BALANCE, Research Article, medicine.medical_specialty, Physical activity, 030209 endocrinology & metabolism, Childhood obesity, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Humans, CAUSAL ROLE, Life Style, Exercise, Breakfast, Nutrition, Sedentary time, CARDIOMETABOLIC RISK-FACTORS, business.industry, Public Health, Environmental and Occupational Health, lcsh:RA1-1270, SDG 8 - Decent Work and Economic Growth, CONSUMPTION, medicine.disease, BODY-MASS INDEX, Cross-Sectional Studies, Self Report, Sedentary Behavior, Biostatistics, business, Body mass index, Demography
Abstract

Background Existing research has documented inconsistent findings for the associations among breakfast frequency, physical activity (PA), and sedentary time in children. The primary aim of this study was to examine the associations among breakfast frequency and objectively-measured PA and sedentary time in a sample of children from 12 countries representing a wide range of human development, economic development and inequality. The secondary aim was to examine interactions of these associations between study sites. Methods This multinational, cross-sectional study included 6228 children aged 9–11 years from the 12 International Study of Childhood Obesity, Lifestyle and the Environment sites. Multilevel statistical models were used to examine associations between self-reported habitual breakfast frequency defined using three categories (breakfast consumed 0 to 2 days/week [rare], 3 to 5 days/week [occasional] or 6 to 7 days/week [frequent]) or two categories (breakfast consumed less than daily or daily) and accelerometry-derived PA and sedentary time during the morning (wake time to 1200 h) and afternoon (1200 h to bed time) with study site included as an interaction term. Model covariates included age, sex, highest parental education, body mass index z-score, and accelerometer waking wear time. Results Participants averaged 60 (s.d. 25) min/day in moderate-to-vigorous PA (MVPA), 315 (s.d. 53) min/day in light PA and 513 (s.d. 69) min/day sedentary. Controlling for covariates, breakfast frequency was not significantly associated with total daily or afternoon PA and sedentary time. For the morning, frequent breakfast consumption was associated with a higher proportion of time in MVPA (0.3%), higher proportion of time in light PA (1.0%) and lower min/day and proportion of time sedentary (3.4 min/day and 1.3%) than rare breakfast consumption (all p ≤ 0.05). No significant associations were found when comparing occasional with rare or frequent breakfast consumption, or daily with less than daily breakfast consumption. Very few significant interactions with study site were found. Conclusions In this multinational sample of children, frequent breakfast consumption was associated with higher MVPA and light PA time and lower sedentary time in the morning when compared with rare breakfast consumption, although the small magnitude of the associations may lack clinical relevance. Trial registration The International Study of Childhood Obesity, Lifestyle and the Environment (ISCOLE) is registered at (Identifier NCT01722500 ).

Published
2019
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