Review
Respiratory System
Joanna Elverson, Hayley Evans, Felicity Dewhurst
Summary: The importance of palliative care in supporting patients with neuromuscular disorders is recognized, despite limited evidence in the literature. By reviewing existing knowledge, we have identified six areas where lessons learned from one condition can be applied to others, providing guidance for clinical practice.
CHRONIC RESPIRATORY DISEASE
(2023)
Article
Public, Environmental & Occupational Health
Lisa Wahlgren, Anna-Karin Kroksmark, Mar Tulinius, Kalliopi Sofou
Summary: This nationwide study in Sweden found that the point prevalence of adult patients with DMD was 3.2 per 100,000 adult males and the birth prevalence was 19.2 per 100,000 male births. The leading cause of death was cardiopulmonary issues, accounting for 79.9% of deaths, while non-cardiopulmonary causes such as injury-related pulmonary embolism, gastrointestinal complications, stroke, and unnatural deaths were also significant factors in mortality among DMD patients.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2022)
Article
Pediatrics
Aydan Kansu, Zarife Kuloglu, Gokhan Tumgor, Didem Gulcu Taskin, Buket Dalgic, Gonul Caltepe, Kaan Demiroren, Guzide Dogan, Ceyda Tuna Kirsaclioglu, Duran Arslan, Ishak Abdurrahman Isik, Hulya Demir, Ozlem Bekem, Yasin Sahin, Nevzat Aykut Bayrak, Mukadder Ayse Selimoglu, Sibel Yavuz, Ibrahim Ethem Taskaya, Derya Altay, VICTORIA Study Group
Summary: This study aimed to determine the prevalence of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children by analyzing creatine phosphokinase (CPK) levels and conducting genetic tests. The findings highlight the importance of screening for potential neuromuscular diseases in patients with isolated hypertransaminasemia, which can prevent unnecessary investigations for liver diseases and lead to timely diagnoses.
FRONTIERS IN PEDIATRICS
(2023)
Article
Clinical Neurology
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Enrico Bertini, Cuixia Tian, Jean K. Mah, Anna Kostera-Pruszczyk, Francesco Muntoni, Michela Guglieri, John F. Brandsema, Eugenio Mercuri, Russell J. Butterfield, Craig M. McDonald, Lawrence Charnas, Shannon Marraffino
Summary: Quantitative MRI measurements can serve as sensitive and objective biomarkers for evaluating disease progression and functional changes in boys with DMD.
JOURNAL OF NEUROLOGY
(2022)
Article
Orthopedics
Aram Kim, Mina Park, Hyung-Ik Shin
Summary: Assessment of pain in individuals with Duchenne muscular dystrophy (DMD) is not well-understood. This study aimed to evaluate the pain characteristics in DMD patients and found that the location, aggravating/relieving factors, pain frequency, and pain interference change with the progression of the disease.
BMC MUSCULOSKELETAL DISORDERS
(2022)
Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Genetics & Heredity
Naye Balzan Schneider, Erica Caetano Roos, Ana Lucia Portella Staub, Isabela Possebon Bevilacqua, Ana Carolina de Almeida, Tamie de Camargo Martins, Natalia Bergamelli Ramos, Priscilla Loze, Jonas Alex Morales Saute, Ana Paula Beck da Silva Etges, Carisi Anne Polanczyk
Summary: This study evaluates the annual costs of hospital, home care, and transportation for patients with DMD in Brazil. The results show that home care expenditures account for 92% of the total costs, followed by hospital costs (6%) and transportation costs (2%). Accurate information about costs is crucial for establishing sustainable health policies for rare diseases.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Review
Clinical Neurology
Carlos Pascual-Morena, Ivan Cavero-Redondo, Irene Sequi-Dominguez, Eva Rodriguez-Gutierrez, Maria Eugenia Visier-Alfonso, Vicente Martinez-Vizcaino
Summary: The aim of this study was to estimate the intelligence quotient (IQ) in patients with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD), and to examine the association between IQ and altered dystrophin isoforms. The results showed that the IQ in BMD was 89.92 and in DMD was 84.61. Additionally, in DMD, there was a synergistic association between the number of affected isoforms and IQ.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Pediatrics
Elisabeth Wallach, Virginie Ehlinger, Maelle Biotteau, Ulrike Walther-Louvier, Yann Pereon, Carole Vuillerot, Stephanie Fontaine, Pascal Sabouraud, Caroline Espil-Taris, Jean-Marie Cuisset, Vincent Laugel, Eloise Baudou, Catherine Arnaud, Claude Cances
Summary: This study conducted a confirmatory validation of the French version of the PedsQL (TM) DMD, which showed poor metric qualities but consistent with the original validation. This confirms the usefulness of using this version in clinical practice.
Review
Health Care Sciences & Services
Oliver Gruebner, Afua van Haasteren, Anna Hug, Suzanne Elayan, Martin Sykora, Emiliano Albanese, Georg M. Stettner, Veronika Waldboth, Sandra Messmer-Khosla, Cornelia Enzmann, Dominique Baumann, Viktor von Wyl, Marta Fadda, Markus Wolf, Michael von Rhein
Summary: Receiving a diagnosis of a severe disease is a traumatic event for patients and their families. Digital interventions can be combined with traditional psychological support to help meet their respective needs. The consequences and challenges faced by Neuro Muscular Disease patients and their families were discussed, and practical needs, concerns, and opportunities for digital platform use were identified. The findings highlighted the psychosocial, physical, social, care-related, structural, and financial challenges experienced by patients. The needs and concerns regarding digital platform use included social and professional support, credibility of online information, and privacy issues. It was emphasized that a family-centered approach in digital health and social care is essential, along with researching the suitability of digital platforms in promoting resilience among the affected population.
Article
Emergency Medicine
William A. Woods, William G. Harmon, Lauren W. Webb, Grant G. Robinson, Michael A. McCulloch
Summary: Patients with Duchenne muscular dystrophy are living longer, leading to an increased presence in emergency departments. While respiratory failure remains the most common cause of death, extended life expectancies have highlighted the significance of progressive myocardial dysfunction, which is now associated with nearly 40% of mortalities in the DMD population. Cardiac complications such as arrhythmias and cardiomyopathy are also becoming more recognized. Emergency physicians may encounter DMD patients who have not been treated, diagnosed, or have worsening heart disease. This review aims to familiarize emergency physicians with the pathophysiology and lifetime care trajectory of these patients before discussing specific emergency department evaluation and treatment.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2022)
Article
Medicine, General & Internal
Daniela P. R. Chieffo, Federica Moriconi, Marika Pane, Simona Lucibello, Elisabetta Ferraroli, Giulia Norcia, Martina Ricci, Anna Capasso, Gianpaolo Cicala, Bianca Buchignani, Giorgia Coratti, Costanza Cutrona, Monia Pelizzari, Claudia Brogna, Jos G. M. Hendriksen, Francesco Muntoni, Eugenio Mercuri
Summary: The aim of this study was to evaluate the consistency of intellectual functioning in DMD boys over time and its relationship to behavioral and neuropsychiatric difficulties. The findings indicate that there are changes in IQ in DMD patients, which are likely to be associated with behavioral and attention deficits.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Pediatrics
Abdulaziz S. AlSaman, Fouad Al Ghamdi, Ahmed K. Bamaga, Nahla AlShaikh, Mohammed Al Muqbil, Osama Muthaffar, Fahad A. Bashiri, Baleegh Ali, Arzu Mulayim, Elena Heider, Abdullah A. Alshahrani, Mohammed A. Al Muhaizea
Summary: This study conducted an observational research on DMD patients in Saudi Arabia and found that the diagnosis age of DMD is relatively late, indicating a need for improved adherence to international DMD standard of care guidelines. Therefore, there is an urgent requirement for improved DMD education and awareness among healthcare professionals and the public in Saudi Arabia.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pharmacology & Pharmacy
Zeren Sun, Dengqiu Xu, Lei Zhao, Xihua Li, Sijia Li, Xiaofei Huang, Chunjie Li, Lixin Sun, Bing Liu, Zhenzhou Jiang, Luyong Zhang
Summary: The study found that fenofibrate can promote the differentiation of myofibers by down-regulating the expression of myostatin protein in myoblasts, significantly improving muscle function and reducing muscle damage in mdx mice, along with anti-inflammatory effects.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Education, Special
C. Hatton, T. Bailey, J. Bradshaw, S. Caton, S. Flynn, A. Gillooly, A. Jahoda, R. Maguire, A. Marriott, P. Mulhall, E. Oloidi, L. Taggart, S. Todd, D. Abbott, S. Beyer, N. Gore, P. Heslop, K. Scior, R. P. Hastings
Summary: The willingness to take the COVID-19 vaccine is high among adults with ID in the United Kingdom, with factors such as white ethnicity, having received a flu vaccine, obtaining information about COVID-19 from television, and knowing COVID-19 social restrictions rules being associated with willingness. Eighty-seven percent of interviewees with ID and 81.7% of surveyed carers of adults with ID with greater needs reported willingness to take a COVID-19 vaccine, indicating clear implications for public health policy and practice.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2021)
Article
Communication
Sue Caton, Chris Hatton, Amanda Gillooly, Edward Oloidi, Libby Clarke, Jill Bradshaw, Samantha Flynn, Laurence Taggart, Peter Mulhall, Andrew Jahoda, Roseann Maguire, Anna Marriott, Stuart Todd, David Abbott, Stephen Beyer, Nick Gore, Pauline Heslop, Katrina Scior, Richard P. Hastings
Summary: This article examines the internet usage of people with intellectual disabilities in the UK during the COVID-19 pandemic. The study found that these individuals primarily use the internet to connect with family and friends, engage in social media, and participate in online activities with others. Social connections were regarded as the most positive aspect of the internet, while some participants reported issues with technology and potential harm to their well-being.
NEW MEDIA & SOCIETY
(2022)
Article
Education, Special
Sue Caton, Jill Bradshaw, Amanda Gillooly, Chris Hatton, Samantha Flynn, Edward Oloidi, Andrew Jahoda, Roseann Maguire, Anna Marriott, Peter Mulhall, Laurence Taggart, Stuart Todd, David Abbott, Stephen Beyer, Nick Gore, Pauline Heslop, Katrina Scior, Richard P. Hastings
Summary: During the Covid-19 pandemic, there has been an increase in the use of digital technology, but the experiences of digital participation for people with profound and multiple learning disabilities (PMLD) is less understood.
BRITISH JOURNAL OF LEARNING DISABILITIES
(2023)
Article
Education, Special
Samantha Flynn, Chris Hatton
Summary: Access to health and social care services significantly reduced for adults with learning disabilities across the UK during the COVID-19 pandemic. While similar patterns were seen across England, Northern Ireland, Scotland, and Wales, there were some variations between countries for some services. Future pandemic planning must ensure that access to these essential services is not completely lost for this vulnerable population.
TIZARD LEARNING DISABILITY REVIEW
(2021)
Article
Education, Special
Jon Symonds, David Abbott, Daryl Dugdale
Summary: This article discusses the perspectives of fathers with learning disabilities in England on fatherhood and the support they receive. While existing literature focuses on parenting with learning disabilities, few studies have explored the views of fathers in this context.
BRITISH JOURNAL OF LEARNING DISABILITIES
(2021)
Article
Rehabilitation
Thomas Abrams, David Abbott, Bhavnita Mistry
SCANDINAVIAN JOURNAL OF DISABILITY RESEARCH
(2020)
Article
Rehabilitation
Thomas Abrams, David Abbott
SCANDINAVIAN JOURNAL OF DISABILITY RESEARCH
(2020)
Article
Rehabilitation
David Abbott, John Carpenter, Barbara E. Gibson, Jon Hastie, Marcus Jepson, Brett Smith
DISABILITY & SOCIETY
(2019)
Article
Public, Environmental & Occupational Health
David Abbott, Marcus Jepson, Jon Hastie
HEALTH & SOCIAL CARE IN THE COMMUNITY
(2016)
Article
Education, Special
David Abbott
BRITISH JOURNAL OF LEARNING DISABILITIES
(2015)
Article
Rehabilitation
David Abbott, John Carpenter
DISABILITY & SOCIETY
(2014)
Article
Public, Environmental & Occupational Health
Barbara E. Gibson, Bhavnita Mistry, Brett Smith, Karen K. Yoshida, David Abbott, Sally Lindsay, Yani Hamdani
Article
Sociology
David Abbott, Patricia Jessiman
COMMUNITY WORK & FAMILY
(2014)
Article
Social Sciences, Interdisciplinary
Barbara E. Gibson, Bhavnita Mistry, Brett Smith, Karen K. Yoshida, David Abbott, Sally Lindsay, Yani Hamdani
INTERNATIONAL JOURNAL OF QUALITATIVE METHODS
(2013)