Article
Neurosciences
Se Jin Jeon, Huiyoung Kwon, Ho Jung Bae, Edson Luck Gonzales, Junhyeong Kim, Hye Jin Chung, Dong Hyun Kim, Jong Hoon Ryu, Chan Young Shin
Summary: This study found that agmatine can reverse FXS symptoms in Fmr1 KO mouse model, including compulsions, learning and memory deficits, hyperactivity, aberrant social interaction, and communication deficit, while normalizing abnormal long-term potentiation and depression in the hippocampus.
Article
Biochemistry & Molecular Biology
Dragana D. Protic, Ramkumar Aishworiya, Maria Jimena Salcedo-Arellano, Si Jie Tang, Jelena Milisavljevic, Filip Mitrovic, Randi J. Hagerman, Dejan B. Budimirovic
Summary: FXS is a neurodevelopmental disorder that can be improved through early diagnosis and interventions targeting behavior symptoms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Psychiatry
Sneha Shah, Joel D. Richter
Summary: Fragile X Syndrome results from the silence of the FMR1 gene, leading to loss of the FMRP protein in the brain and affecting mRNA translation. Aberrant splicing changes in Fmr1-deficient mice are related to those found in individuals with autism spectrum disorders and mouse models of intellectual disability. Splicing aberrations in these disorders may play a role in shared pathophysiological conditions and cognitive impairments.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Clinical Neurology
Tarjani Shukla, June Bryan de la Pena, John M. Perish, Jonathan E. Ploski, Craig R. Stumpf, Kevin R. Webster, Catherine A. Thorn, Zachary T. Campbell
Summary: Fragile X syndrome is the most common inherited source of intellectual disability in humans, caused by epigenetic silencing of the Fmr1 gene. The MNK inhibitor eFT508 shows potential in alleviating deficits associated with FXS by targeting downstream pathways. This study highlights the ability of eFT508 to improve various phenotypic abnormalities linked to FXS.
Article
Medical Laboratory Technology
Fei Hou, Aiping Mao, Shan Shan, Yan Li, Wanli Meng, Jiahan Zhan, Wenying Nie, Hua Jin
Summary: This study evaluated the clinical utility of a long-read sequencing-based assay called comprehensive analysis of FXS (CAFXS) in high-risk samples and compared it to conventional PCR assays. The results showed that CAFXS could detect FXS genetic variations more comprehensively and accurately, providing more information for genetic counseling.
CLINICA CHIMICA ACTA
(2023)
Article
Clinical Neurology
Michelle H. S. Tosin, Glenn T. Stebbins, Christopher G. Goetz, Randi J. Hagerman, David Hessl, Melissa A. Zolecki, Peter K. Todd, Maureen A. Leehey, Deborah A. Hall
Summary: This study revised the FXTAS-RS rating scale and successfully established a revised version with 18 items through the Delphi technique and cognitive pretesting. The revised scale is now ready for large-scale field validation.
FRONTIERS IN NEUROLOGY
(2022)
Article
Multidisciplinary Sciences
Ha Eun Kong, Junghwa Lim, Alexander Linsalata, Yunhee Kang, Indranil Malik, Emily G. Allen, Yiqu Cao, Lisa Shubeck, Rich Johnston, Yanting Huang, Yanghong Gu, Xiangxue Guo, Michael E. Zwick, Zhaohui Qin, Thomas S. Wingo, Jorge Juncos, David L. Nelson, Michael P. Epstein, David J. Cutler, Peter K. Todd, Stephanie L. Sherman, Stephen T. Warren, Peng Jin
Summary: This study identified Prosbeta5 (PSMB5) as a candidate genetic modifier for FXTAS using a Drosophila model. Knockdown of PSMB5 suppressed CGG-associated neurodegeneration in flies and cells. Additionally, an expression quantitative trait locus variant in PSMB5 was associated with delayed onset of FXTAS in human carriers. These findings suggest a therapeutic strategy for FXTAS by targeting PSMB5.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Clinical Neurology
Melodie Proteau-Lemieux, Angelina Lacroix, Luc Galarneau, Francois Corbin, Jean-Francois Lepage, Artuela Caku
Summary: This study confirms the safety of metformin in normoglycemic patients with FXS and suggests its potential in modifying GABA-mediated inhibition, a hallmark of FXS pathophysiology.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2021)
Review
Genetics & Heredity
Aadil Yousuf, Nadeem Ahmed, Abrar Qurashi
Summary: Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are distinct disorders caused by abnormal expansion of CGG repeats. FXTAS is a neurodegenerative disorder characterized by gene hyperexpression, while FXS is a neurodevelopmental disorder characterized by gene silencing. Non-canonical DNA and RNA structures formed from CGG repeat expansions can disrupt cellular processes and have different effects in these two disorders.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Nicole K. Morrill, Aurelie Joly-Amado, Qingyou Li, Sahana Prabhudeva, Edwin J. Weeber, Kevin R. Nash
Summary: This study found that the reduction in Reelin may be related to FXS, and enhancing the Reelin signaling successfully rescued cognitive deficits in FXS mice, providing a feasible therapeutic approach.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Neurosciences
Kaleb Dee Miles, Caleb Andrew Doll
Summary: Developmental changes in ionic balance play a crucial role in neural circuit formation. The shift of GABAergic neurotransmission from depolarizing to hyperpolarizing output is induced by changes in Cl- gradients and is delayed in Fragile X syndrome (FXS) models. The absence of FMRP protein, which regulates chloride transporter expression, can significantly impact FXS phenotypes. This perspective summarizes the expression of Cl- transporters and discusses the imbalances in inhibitory neurotransmission in FXS, highlighting potential therapeutic strategies.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Lital Gildin, Rossana Rauti, Ofir Vardi, Liron Kuznitsov-Yanovsky, Ben M. Maoz, Menahem Segal, Dalit Ben-Yosef
Summary: Fragile X syndrome affects the development and function of human neuronal networks, with smaller cell bodies and reduced connections observed in FX-iNs compared to control iNs. FX networks also exhibit higher spontaneous burst-firing activity and lower network synchrony, providing insight into the intellectual dysfunction associated with FXS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Pernille Bulow, Menahem Segal, Gary J. Bassell
Summary: This article discusses the emergence of hyperexcitability in neurodevelopmental disorders and explores recent advances in understanding novel mechanisms in Fragile X syndrome (FXS), providing new therapeutic strategies for FXS and other neurodevelopmental disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Psychology, Multidisciplinary
Anne Hoffmann
Summary: Fragile X syndrome is a common cause of inherited intellectual disability and is often associated with a high rate of autism. Language delays are observed in various areas, including overall communication, receptive and expressive language, pragmatic language, speech sounds, and literacy. Individuals diagnosed with both fragile X syndrome and autism tend to have more significant intellectual disability and language disorder. This study explores the language phenotype of fragile X syndrome and highlights the roles of cognition, autistic symptomatology, and gender. Implications for assessment and intervention approaches based on the strengths and weaknesses of the fragile X syndrome language phenotype are discussed.
FRONTIERS IN PSYCHOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Cristian-Gabriel Ciobanu, Irina Nuca, Roxana Popescu, Lucian-Mihai Antoci, Lavinia Caba, Anca Viorica Ivanov, Karina-Alexandra Cojocaru, Cristina Rusu, Cosmin-Teodor Mihai, Monica-Cristina Panzaru
Summary: The diagnosis and management of fragile X syndrome (FXS) have significantly improved in the last three decades, although the current diagnostic techniques have limitations in accurately identifying various molecular characteristics. New technologies, such as optical genome mapping and long-range sequencing, have the potential to replace the current diagnostic methods and offer a comprehensive molecular profiling in a single test. However, these technologies are still far from being routinely used in clinical practice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Public, Environmental & Occupational Health
Nicholas Woodrow, Hannah Fairbrother, Katie Breheny, Katrina D'Apice, Patricia N. Albers, Clare Mills, Matthew Curtis, Lisa Hopkins, Sarah Tebbett, Rona Campbell, Frank De Vocht
Summary: This study explores the acceptability, utility, and effectiveness of a school-based online health and wellbeing screening tool. The findings show that the tool is effective in identifying and supporting unmet health needs, and is an efficient use of limited resources. However, there are barriers to school engagement that need to be addressed. Overall, the tool is seen as a valuable and effective resource, with a low burden on school staff.
Article
Ophthalmology
Jan Henrik Terheyden, Susanne G. Pondorfer, Charlotte Behning, Moritz Berger, Jill Carlton, Donna Rowen, Christine Bouchet, Stephen Poor, Ulrich F. O. Luhmann, Sergio Leal, Frank G. Holz, Thomas Butt, John E. Brazier, Robert P. Finger
Summary: This study aims to validate the Vision Impairment in Low Luminance (VILL) questionnaire for assessing visual functioning and vision-related quality of life (VRQoL) in patients with age-related macular degeneration (AMD) under low luminance, low-contrast conditions. The VILL questionnaire was translated into multiple languages and analyzed using Rasch analysis. The results supported the reliability and validity of the shortened version of the questionnaire, VILL-33, across all stages of AMD.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Endocrinology & Metabolism
Jill Carlton, Philip Powell, Donna Rowen, Melanie Broadley, Frans Pouwer, Jane Speight, Simon Heller, Mari-Anne Gall, Myriam Rosilio, Christopher J. Child, Jonathan Comins, Rory J. McCrimmon, Bastiaan de Galan, John Brazier
Summary: This study aims to develop a new hypoglycaemia-specific PROM to assess the impact of hypoglycaemia on quality of life in patients with diabetes. The study uses a mixed-methods, three-stage design, collecting information through qualitative interviews and validating it through psychometric testing, ultimately generating a hypoglycaemia-specific PROM and preference-based measure.
Article
Health Care Sciences & Services
Philip A. Powell, Milad Karimi, Donna Rowen, Nancy Devlin, Ben van Hout, John E. Brazier
Summary: This study explores the public understanding, opinions, and potential solutions to differences between hypothetical and experienced responses in the context of health resource allocation. Most participants found it difficult to imagine health states without experience, and favored experienced responses as more accurate. The study suggests recruiting people with greater experience or incorporating other views as acceptable solutions.
QUALITY OF LIFE RESEARCH
(2023)
Article
Economics
Sarah Acaster, Clara Mukuria, Donna Rowen, John E. Brazier, Claire E. Wainwright, Bradley S. Quon, Jamie Duckers, Alexandra L. Quittner, Yiyue Lou, Patrick R. Sosnay, Lisa J. McGarry
Summary: This study developed a preference-based utility measure for cystic fibrosis (CF) based on the CFQ-R questionnaire, which is the first disease-specific scoring algorithm for CF. It allows for estimation of disease-specific utilities and can be used in cost-effectiveness analysis.
Article
Public, Environmental & Occupational Health
Patricia E. Jessiman, Victoria R. Carlisle, Katie Breheny, Rona Campbell, Russell Jago, Marcus Robinson, Steve Strong, Judi Kidger
Summary: In the UK, one in five households with children experienced food insecurity. This study evaluated the feasibility, acceptability, cost implications, and implementation lessons of universal free school meals (UFSM) in two secondary schools in England.
Article
Nutrition & Dietetics
Russell Jago, Ruth Salway, Danielle House, Robert Walker, Lydia Emm-Collison, Kate Sansum, Katie Breheny, Tom Reid, Sarah Churchward, Joanna G. Williams, Charlie Foster, William Hollingworth, Frank de Vocht
Summary: The COVID-19 pandemic has had a significant impact on children's physical activity, resulting in a decrease in moderate-to-vigorous physical activity during lockdowns. While there was little change in parental activity levels post-COVID lockdown, it is important to examine if these patterns persist.
INTERNATIONAL JOURNAL OF BEHAVIORAL NUTRITION AND PHYSICAL ACTIVITY
(2023)
Article
Clinical Neurology
Tom Denee, Cicely Kerr, Joe Eva, Sally-Anne Vincent, Nicholas Jacobsen, Allan H. Young, Mitesh Desai, Laura Baldock, Shanaya Rathod
Summary: This study explores the lived experiences of informal carers of people with depression, especially those with treatment-resistant depression. The results show that carers of individuals with treatment-resistant depression have impaired quality of life and work productivity. The study also suggests that successful treatment for depression benefits both patients and their carers.
JOURNAL OF AFFECTIVE DISORDERS
(2023)
Article
Behavioral Sciences
Elizabeth Reynolds, Sheresa Blanchard, Elizabeth Jalazo, Pranesh Chakraborty, Donald B. B. Bailey
Summary: This study aims to investigate the eligibility criteria for early intervention (EI) in newborns with screening (NBS) conditions across different states and determine which disorders should automatically qualify for EI due to a high risk of developmental delay. The researchers examined each state's EI eligibility policy and reviewed relevant literature on developmental outcomes. Using a novel matrix, they assessed the risk factors and revised it iteratively until reaching a consensus. Results indicated that 29 conditions were likely to meet the criteria for EI eligibility.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
(2023)
Article
Public, Environmental & Occupational Health
Robert Walker, Danielle House, Ruth Salway, Lydia Emm-Collison, Lara E. Hollander, Kate Sansum, Katie Breheny, Sarah Churchward, Joanna G. Williams, Frank de Vocht, William Hollingworth, Charlie Foster, Russell Jago
Summary: This study conducted interviews with parents, school staff, and children to analyze the impact of COVID-19 on children's physical activity. The study found that after the pandemic, children's physical activity habits changed, with a greater reliance on structured and organized activities, which may lead to decreased physical activity levels, especially for girls and children from lower socio-economic households. Therefore, affordable and equitable opportunities should be provided to prevent physical activity and health inequalities.
Article
Nutrition & Dietetics
Robert Walker, Ruth Salway, Danielle House, Lydia Emm-Collison, Katie Breheny, Kate Sansum, Sarah Churchward, Joanna G. Williams, Frank de Vocht, William Hollingworth, Russell Jago
Summary: This study examines the impact of the COVID-19 pandemic on the participation, costs, and provision of active clubs in schools and communities. The findings show that school-based club participation has increased, while community-based club participation has decreased. Children from lower education households are less likely to participate in active clubs, and girls are less likely to attend community clubs. The study also highlights the increase in club costs and the shift towards more affordable and convenient school-based clubs.
INTERNATIONAL JOURNAL OF BEHAVIORAL NUTRITION AND PHYSICAL ACTIVITY
(2023)
Editorial Material
Pediatrics
Donald B. Bailey
Article
Education, Special
Elizabeth Reynolds, Sara M. Andrews, Sheresa Blanchard, Samantha Scott, Aminah Isiaq, Donald B. Bailey Jr
Summary: This study explores the coordination between Early Intervention (EI) and Newborn Screening (NBS) programs, particularly in identifying, referring, and qualifying children for EI services after an NBS diagnosis. A survey of program leaders shows variability in familiarity and collaboration, but most coordinators are willing to pursue future collaboration.
JOURNAL OF EARLY INTERVENTION
(2023)
Article
Psychiatry
Prianka Padmanathan, Rachel Cohen, David Gunnell, Lucy Biddle, Emma Griffith, Katie Breheny, Matt Hickman, Nik Munien, Anish Patel, Elaine Crocker, Paul Moran
Summary: This study aimed to develop a brief psychosocial intervention for individuals presenting to the emergency department with self-harm and co-occurring substance use problems. Through a modified Delphi method, expert consensus was achieved for 22 items, resulting in an intervention that includes weekly follow-up phone calls and support for accessing community services.
CRISIS-THE JOURNAL OF CRISIS INTERVENTION AND SUICIDE PREVENTION
(2023)
Meeting Abstract
Economics
R. Holt, S. Taylor, N. Barretto, A. Hirst, L. Oliver, G. Brandolini, J. E. Brazier