Article
Genetics & Heredity
Cecile Cieuta-Walti, Aida Cuenca-Royo, Klaus Langohr, Claire Rakic, Ma Angeles Lopez-Vilchez, Julian Lirio, Domingo Gonzalez-Lamuno Leguina, Teresa Bermejo Gonzalez, Jordi Garcia Garcia, Maria Rimblas Roure, Ana Aldea-Perona, Laura Forcano, Maria Gomis-Gonzalez, Sebastia Videla Ces, Florence Lacaille, Aime Ravel, Clotilde Mircher, Herve Walti, Nathalie Janel, Julien Dairou, Marilyne Levy, Sophie Durand, Mara Dierssen, Silvia Sacco, Rafael de la Torre Fornell
Summary: This study evaluated the safety and tolerability of epigallocatechin gallate (EGCG) in children with Down syndrome (DS) and examined its effects on cognitive function and functionality. The results indicated that EGCG was safe and well-tolerated in children with DS, but did not show improvement in cognitive and functional performance.
GENETICS IN MEDICINE
(2022)
Article
Medicine, General & Internal
Aitana Ayet-Roger, Lorena Joga-Elvira, Assumpta Caixas, Raquel Corripio
Summary: This study compared the cognitive and adaptive performance of PWS patients, showing that patients who received GH treatment early in their development demonstrated better cognitive and adaptive performance.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Neurosciences
Emily K. Schworer, Emily K. Hoffman, Anna J. Esbensen
Summary: This study evaluated the psychometric properties of standardized measurements of social cognition and behavior for potential use as outcome measures for children and adolescents with Down syndrome. Results showed that while all measures met criteria for some psychometric indices, there were feasibility limitations and problematic floor effects identified for certain subtests. The Social Responsiveness Scale, Second Edition (SRS-2) was found to be high in feasibility, with moderate to excellent test-retest reliability, and no practice effects, making it a suitable measure for use in clinical trials with youth with DS.
Article
Neurosciences
Ashley Emily Siegel, Diana W. W. Bianchi, Faycal Guedj
Summary: This study used rodent touchscreen paradigms to investigate learning deficits in mouse models of Down syndrome (DS). The Dp(16)1/Yey and Ts1Cje models showed learning deficits in visual discrimination (VD), with the Dp(16)1/Yey model exhibiting more pronounced deficits. Both models also displayed compulsive behavior and abnormal cortical inhibitory control during Extinction. The findings highlight the importance of mouse genetic background and absence of hyperactive behavior in successful learning in touchscreen testing.
JOURNAL OF NEUROSCIENCE RESEARCH
(2023)
Review
Nutrition & Dietetics
Carmen Martinez-Cue, Renata Bartesaghi
Summary: Down syndrome (DS) is a genetic disorder caused by the triplication of chromosome 21, resulting in intellectual disability starting in utero and continuing through infancy, with associated impairments in neurogenesis and connectivity that may lead to early-onset Alzheimer's disease. Current research focuses on using DS mouse models to discover potential pharmacotherapies, with fatty acids emerging as a promising treatment option for DS-related cognitive deficits and neurodevelopmental impairments. This suggests a need for further exploration of the potential benefits of fatty acids for individuals with DS.
Article
Medicine, General & Internal
Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Maria Accadia, Marco Seri, Marco Tartaglia, Andrea Bartuli, Corrado Mammi, Stefano Vicari, Manuela Priolo
Summary: The study aims to define the cognitive and adaptive behavior profile of children and adolescents with Malan Syndrome (MS) and provides quantitative data from standardized evaluations. The results showed that all individuals assessed exhibited low cognitive and adaptive functioning, with mild to severe intellectual disability and impaired language skills.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Veronica Vidal, Alba Puente, Susana Garcia-Cerro, Maria Teresa Garcia Unzueta, Noemi Rueda, Javier Riancho, Carmen Martinez-Cue
Summary: All individuals with Down syndrome eventually develop Alzheimer's disease neuropathology, without any effective treatment available. The potential therapeutic use of bexarotene in treating AD neuropathology in DS population remains controversial, as chronic treatment with bexarotene in Ts65Dn (TS) mice may lead to cognitive decline and reduced cognitive abilities, suggesting it may not be a viable treatment option.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Physiology
Katharina Brauns, Anika Friedl-Werner, Martina A. Maggioni, Hanns-Christian Gunga, Alexander C. Stahn
Summary: Adverse cognitive and behavioral conditions and psychiatric disorders are considered significant risks during future long-duration space missions. Monitoring and mitigating these risks will require tools like EEG to reliably assess cognitive performance and well-being. Studies on HDBR show that prolonged bed rest can affect brain activity, with reductions in EEG spectral power and changes in activity in certain brain regions, though resting state functional connectivity remains unaffected. Maintaining consistent body posture during testing sessions is crucial for accurate EEG readings.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Neurosciences
Erin Gibson, Nancy J. Lobaugh, Steve Joordens, Anthony R. McIntosh
Summary: The ongoing activity of neurons in the brain is highly variable and may play a significant role in cognitive function. This study investigated the variability and strength of EEG activity in younger adults during cognitive skill learning. The results showed that variability in EEG activity was more sensitive to individual differences, while changes in the strength of EEG activity reflected task-driven changes. The variability of EEG activity was also found to be related to stable indicators of subject identity rather than dynamic indicators of subject performance.
Article
Neurosciences
Jovana Arandelovic, Anja Santrac, Bojan Batinic, Lidija Todorovic, Vladimir Stevanovic, Veera Venkata Naga Phani Babu Tiruveedhula, Dishary Sharmin, Farjana Rashid, Boban Stanojevic, James M. Cook, Miroslav M. Savic
Summary: The aim of this study was to assess the effects of negative and positive allosteric modulators of alpha 5 GABA(A) receptors on behavior and neuroinflammation in a widely used Alzheimer's disease (AD) model. The results showed that these modulators had some effects on the behavior and neuroinflammation of transgenic mice, but did not achieve the expected beneficial effects.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Article
Clinical Neurology
Sarah Hamburg, Daniel Bush, Andre Strydom, Carla M. Startin
Summary: The study found that individuals with Down syndrome exhibit an overall 'slower' EEG spectrum, characterized by higher delta and theta power, and lower alpha and beta power. Particularly, alpha activity showed significant differences in individuals with Down syndrome, indicating a potential universal EEG signature of cognitive impairment.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2021)
Article
Microbiology
Stephen A. Fleming, Jonas Hauser, Jian Yan, Sharon M. Donovan, Mei Wang, Ryan N. Dilger
Summary: The relationship between the gut and brain is complex, involving multiple pathways including bacterial genera, gene expression, and cognition, with a focus on genes related to excitatory/inhibitory neurotransmission. Mediating variables include GABAergic and glutamatergic hippocampal gene expression, along with genes related to myelination, transcription factors, brain volume, and exploratory behavior.
Article
Psychiatry
Esther C. McWilliams, Florentine M. Barbey, John F. Dyer, Md Nurul Islam, Bernadette McGuinness, Brian Murphy, Hugh Nolan, Peter Passmore, Laura M. Rueda-Delgado, Alison R. Buick
Summary: This study demonstrates the feasibility of gathering large-scale EEG data in the home environment using novel technology, showing high levels of participation and completion in different age groups. The low-burden measurement method has potential for large-scale studies and could contribute to the development of digital cognitive biomarkers.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Behavioral Sciences
Osama Hamadelseed, Thomas Skutella
Summary: In this study, magnetic resonance imaging (MRI) was used to examine the brain structures of individuals with Down syndrome (DS). The results showed that deficits in memory and language skills in people with DS are related to reduced volumes of specific brain regions. These findings provide important insights into the cognitive-behavioral phenotype of DS.
BRAIN AND BEHAVIOR
(2023)
Article
Clinical Neurology
Emily K. Schworer, Anna J. Esbensen, Vivian Nguyen, Lauren Bullard, Deborah J. Fidler, Lisa A. Daunhauer, Carolyn B. Mervis, Angela M. Becerra, Leonard Abbeduto, Angela John Thurman
Summary: This study characterizes adaptive skills in young children with Down syndrome and investigates child characteristics associated with adaptive skills. The results showed significant differences in adaptive skills across different domains, as well as individual variability in relative strengths and weaknesses. Child characteristics such as cognitive abilities, motor skills, and autism spectrum disorder symptoms were significantly associated with adaptive skills.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2022)
Article
Genetics & Heredity
Kavita Krell, Albert Pless, Carie Michael, Amy Torres, Jeanhee Chung, Sandra Baker, Jasmine M. Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O'Neill, Angeles Pena, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G. Torres, Brian G. Skotko
Summary: Scant research has been done on the healthcare experiences of people with Down syndrome who are Black, African American, of African descent, or of mixed race in the US. This study found that these individuals and their caregivers face numerous barriers when accessing healthcare, including racial biases in the medical community.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Brian G. Skotko, Alexandra Garza Flores, Ibrahim Elsharkawi, Vasiliki Patsiogiannis, Mary Ellen McDonough, Damiano Verda, Marco Muselli, Roberto Hornero, David Gozal, Eric A. Macklin
Summary: Detecting obstructive sleep apnea in individuals with Down syndrome is crucial for preventing comorbidities and understanding its impact on mental health. However, laboratory-based polysomnograms are often not feasible for this population. A previous prediction model showed promise in identifying individuals who may not have significant apnea and can avoid a diagnostic polysomnogram. This study aimed to validate these findings in a new group of participants with Down syndrome, but a reliable screening tool for OSA was not achieved. Current healthcare guidelines recommend ongoing monitoring for OSA in individuals with Down syndrome.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Medicine, Research & Experimental
Julie H. Levison, David Krane, Karen Donelan, Kelly Aschbrenner, Hao D. Trieu, Cindy Chau, Anna Wilson, Nicolas M. Oreskovic, Kelly Irwin, Lisa I. Iezzoni, Haiyi Xie, Ronita Samuels, Paula Silverman, Joey Batson, Ahmed Fathi, Stefanie Gamse, Sibyl Holland, Jessica Wolfe, Kim Shellenberger, Elizabeth Cella, Bruce Bird, Brian G. Skotko, Stephen Bartels
Summary: This study aims to assess the effectiveness and implementation of evidence-based infection prevention practices for individuals with serious mental illness and intellectual disabilities or developmental delays residing in group homes. The trial will compare tailored best practices with general best practices in 400 state-funded group homes in Massachusetts. The primary outcomes include incident SARS-CoV-2 infection, COVID-19-related hospitalizations, mortality, and vaccination rates.
CONTEMPORARY CLINICAL TRIALS
(2023)
Article
Immunology
Javier Diez-Domingo, Xavier Saez-Llorens, Miguel A. Rodriguez-Weber, Cristina Epalza, Archana Chatterjee, Cheng-Hsun Chiu, Chien-Yu Lin, Andrea A. Berry, Federico Martinon-Torres, Fernando Baquero-Artigao, Joanne M. Langley, Jose T. Ramos Amador, Joseph B. Domachowske, Li-Min Huang, Nan-Chang Chiu, Susanna Esposito, Philippe Moris, Thi Lien-Anh Nguyen, Vanja Nikic, Wayne Woo, Yingjun Zhou, Ilse Dieussaert, Amanda Leach, Antonio Gonzalez Lopez, Nicolas Vanhoutte
Summary: This study tested a new candidate RSV vaccine in toddlers who had a previous RSV infection. The vaccine was effective in preventing RSV-related illnesses and triggered an antibody response that could neutralize the virus. No vaccine-related serious adverse events or RSV-related hospitalizations were reported during the study.
JOURNAL OF INFECTIOUS DISEASES
(2023)
Review
Psychiatry
Lisa Burrows, Georgia Page, Elena Plugaru, Bridie Kent, Mahesh Odiyoor, Sujeet Jaydeokar, Jonathan Williams, Kevin Elliot, Richard Laugharne, Rohit Shankar
Summary: This study evaluates the current evidence on inpatient models for people with intellectual disabilities and provides recommendations for best clinical practice and standards. The findings suggest that inpatient service provision should be based on locally developed and implemented models for individuals with intellectual disabilities.
INTERNATIONAL JOURNAL OF SOCIAL PSYCHIATRY
(2023)
Article
Pediatrics
Benno Kohlmaier, Manuel Leitner, Nienke N. Hagedoorn, Dorine M. Borensztajn, Ulrich von Both, Enitan D. Carrol, Marieke Emonts, Michiel van der Flier, Ronald de Groot, Jethro Herberg, Michael Levin, Emma Lim, Ian K. Maconochie, Federico Martinon-Torres, Ruud G. Nijman, Marko Pokorn, Irene Rivero-Calle, Chantal D. Tan, Maria Tsolia, Clementien L. Vermont, Joany M. Zachariasse, Dace Zavadska, Henriette A. Moll, Werner Zenz
Summary: This study investigated febrile children with petechial rashes who presented to European emergency departments and found that children with a combination of fever and petechial rash were more likely to have sepsis, meningitis, bacterial infections, and require immediate life-saving interventions and intensive care unit admissions. Therefore, the combination of fever and petechial rash is still an important warning sign for childhood sepsis and meningitis.
Article
Clinical Neurology
James J. J. Sun, Lance Watkins, William Henley, Richard Laugharne, Heather Angus-Leppan, Indermeet Sawhney, Meissam Moghaddassian Shahidi, Kiran Purandare, Mogbeyiteren Eyeoyibo, Mark Scheepers, Geraldine Lines, Robert Winterhalder, Bhathika Perera, Benjamin Hyams, Samantha Ashby, Rohit Shankar
Summary: This study aimed to measure associations between risk factors for death in people with epilepsy (PWE) and intellectual disabilities (ID). The results showed that people who died had a higher prevalence of genetic conditions, older age, poor physical health, generalized tonic-clonic seizures, polypharmacy (not antiseizure medications) and antipsychotic use. The lack of an epilepsy review in the last 12 months, age over 50, medical condition prevalence, and antipsychotic medication use were identified as associated with increased risk of epilepsy-related death.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Sarah Lennard, William Henley, Brendan McLean, Tom Thompson, Mark Jadav, Richard Laugharne, Rohit Shankar
Summary: This study compares the characteristics of individuals with substance misuse to those without in recurrent visits to the emergency department for seizures. The results show that individuals with substance misuse have higher mortality rates and differ in terms of gender, age, mental health issues, social deprivation, anti-seizure medication use, and epilepsy service utilization. The study suggests that services for this vulnerable group should be modeled differently from traditional approaches.
JOURNAL OF NEUROLOGY
(2023)
Review
Clinical Neurology
L. Watkins, S. Ashby, J. Hanna, W. Henley, R. Laugharne, R. Shankar
Summary: Sudden Unexpected Death in Epilepsy (SUDEP) is a major concern for people with epilepsy, and there is inconsistency in the SUDEP counselling doctors provide compared to clinical guidelines. Surveys have highlighted this issue and identified essential questions to evaluate SUDEP counselling practice globally. This review provides ten essential questions for future surveys and explores the need for continued research in this area.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2023)
Article
Medicine, General & Internal
Timo Hess, Carlo Maj, Jan Gehlen, Oleg Borisov, Stephan L. Haas, Ines Gockel, Michael Vieth, Guillaume Piessen, Hakan Alakus, Yogesh Vashist, Carina Pereira, Michael Knapp, Vitalia Schueller, Alexander Quaas, Heike I. Grabsch, Jessica Trautmann, Ewa Malecka-Wojciesko, Anna Mokrowiecka, Jan Speller, Andreas Mayr, Julia Schroeder, Axel M. Hillmer, Dominik Heider, Florian Lordick, Angeles Perez-Aisa, Rafael Campo, Jesus Espinel, Fernando Geijo, Concha Thomson, Luis Bujanda, Federico Sopena, Angel Lanas, Maria Pellise, Claudia Pauligk, Thorsten Oliver Goetze, Carolin Zelck, Julian Reingruber, Emadeldin Hassanin, Peter Elbe, Sandra Alsabeah, Mats Lindblad, Magnus Nilsson, Nicole Kreuser, Rene Thieme, Francesca Tavano, Roberta Pastorino, Dario Arzani, Roberto Persiani, Jin-On Jung, Henrik Nienhueser, Katja Ott, Ralf R. Schumann, Oliver Kumpf, Susen Burock, Volker Arndt, Anna Jakubowska, Malgorzta Lawniczak, Justyna Dabrowska, Olivier Cussenot, Anne Boland-Auge, Delphine Daian, Jean-Francois Deleuze, Erika Salvi, Maris Teder-Laving, Gianluca Tomasello, Margherita Ratti, Chiara Senti, Valli De Re, Agostino Steffan, Arnulf H. Hoelscher, Katharina Messerle, Christiane Josephine Bruns, Armands Sivins, Inga Bogdanova, Jurgita Skieceviciene, Justina Arstikyte, Markus Moehler, Hauke Lang, Peter P. Grimminger, Martin Kruschewski, Nikolaos Vassos, Claus Schildberg, Philipp Lingohr, Karsten Ridwelski, Hans Lippert, Nadine Fricker, Peter Krawitz, Per Hoffmann, Markus M. Noethen, Lothar Veits, Jakob R. Izbicki, Adrianna Mostowska, Federico Martinon-Torres, Daniele Cusi, Rolf Adolfsson, Geraldine Cancel-Tassin, Aksana Hoeblinger, Ernst Rodermann, Monika Ludwig, Gisela Keller, Andres Metspalu, Hermann Brenner, Joerg Heller, Markus Neef, Michael Schepke, Franz Ludwig Dumoulin, Lutz Hamann, Renato Cannizzaro, Michele Ghidini, Dominik Plassmann, Michael Geppert, Peter Malfertheiner, Olivier Gehlen, Tomasz Skoczylas, Marek Majewski, Jan Lubinski, Orazio Palmieri, Stefania Boccia, Anna Latiano, Nuria Aragones, Thomas Schmidt, Mario Dinis-Ribeiro, Rui Medeiros, Salah-Eddin Al-Batran, Marcis Leja, Juozas Kupcinskas, Maria A. Garcia-Gonzalez, Marino Venerito, Johannes Schumachera
Summary: This study characterized the genetic risk architecture of gastric cancer (GC) and its subtypes, and found that GC is genetically heterogenous. It also revealed the shared genetic aetiology between cardia GC and oesophageal adenocarcinoma (OAC) and its precursor lesion Barrett's oesophagus (BO).
Article
Pediatrics
Alexander James Martin, Fabian Johannes Stanislaus van der Velden, Ulrich von Both, Maria N. Tsolia, Werner Zenz, Manfred Sagmeister, Clementien Vermont, Gabriella de Vries, Laura Kolberg, Emma Lim, Marko Pokorn, Dace Zavadska, Federico Martinon-Torres, Irene Rivero-Calle, Nienke N. Hagedoorn, Effua Usuf, Luregn Schlapbach, Taco W. Kuijpers, Andrew J. Pollard, Shunmay Yeung, Colin Fink, Marie Voice, Enitan Carrol, Philipp K. A. Agyeman, Aakash Khanijau, Stephane Paulus, Tisham De, Jethro Adam Herberg, Michael Levin, Michiel van der Flier, Ronald de Groot, Ruud Nijman, Marieke Emonts
Summary: This study externally validated and updated the Feverkids clinical prediction model for differentiating bacterial pneumonia and other SBIs from non-SBI causes of fever in immunocompromised children. The model showed good discrimination for bacterial pneumonia but poorer performance for other SBIs. The rule-out thresholds have the potential to reduce unnecessary investigations and antibiotics in this high-risk group.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Ethics
Fabian J. S. van der Velden, Emma Lim, Lily Gills, Jasmin Broadey, Louise Hayes, Eve Roberts, Jack Courtney, Joanne Ball, Jethro Herberg, Rachel Galassini, Marieke Emonts, DIAMONDS consortium
Summary: This study explores the views and knowledge of children and young people in the UK regarding biobanking and consent. The findings suggest that most children accept prospective and deferred consent, and prefer to reconsent when cognitively mature enough. Additionally, children wanted to be informed about the reuse of their biobanked biospecimens.
BMC MEDICAL ETHICS
(2023)
Article
Genetics & Heredity
Rie Kitano, Neel Madan, Takahisa Mikami, Rajeevi Madankumar, Brian G. Skotko, Stephanie Santoro, Steven J. Ralston, Diana W. Bianchi, Tomo Tarui
Summary: This study aims to evaluate brain development in living fetuses with Down syndrome (DS) by analyzing biometric measurements on fetal brain magnetic resonance images (MRI). The results show that fetuses with DS have smaller cerebellums and larger fourth ventricles compared to controls, and the cerebellar-to-fourth-ventricle ratio may be a novel fetal brain feature characteristic of DS.
PRENATAL DIAGNOSIS
(2023)
Article
Biotechnology & Applied Microbiology
Antonio Salas, Irene Rivero-Calle, Federico Martinon-Torres
Summary: Vaccine hesitancy is considered a top global health threat by the WHO. This study investigates the ability of the AI chatbot ChatGPT to generate opinions on vaccine hesitancy by examining its response to prevalent false information, contraindications, and myths about vaccine safety circulating on the internet. The findings suggest that while ChatGPT's default responses may be incomplete, they are generally satisfactory and have the potential to guide users towards scientifically aligned information, though it cannot replace experts or scientific evidence itself.
HUMAN VACCINES & IMMUNOTHERAPEUTICS
(2023)
Article
Clinical Neurology
Sarah Lennard, Rachel Newman, Brendan McLean, Caryn Jory, David Cox, Charlotte Young, Eve Corson, Rohit Shankar
Summary: There is a higher prevalence of epilepsy and SUDEP in people with intellectual disability compared to the general population. Accurate seizure recording, especially at night, is challenging in this population. The study evaluates the clinical utility and acceptability of Neuro Event Labs seizure monitoring (Nelli) in people with intellectual disability and epilepsy.
EPILEPSY & BEHAVIOR REPORTS
(2023)