Clinical study on cognitive impairment in Duchenne muscular dystrophy |
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| Affiliation: | 1. Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China;2. Department of Neurology, Children''s Hospital Capital Institute of Pediatrics, Beijing, China;3. GrandOmics Biosciences, Beijing, China;1. The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle Upon Tyne, UK;2. Hospital Clínic de Barcelona, Department of Neurology, Universitat de Barcelona, Spain;3. Magnetic Resonance Centre, Institute for Translational Medicine, Newcastle University;4. AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France;5. The Jain Foundation, Seattle, Washington, USA;6. Center for Translational Science, Division of Biostatistics and Study Methodology, Children''s National Health System, Washington, DC, USA;7. Department of Neurology and Neurological Sciences, Stanford University School of Medicine; Stanford, CA, USA;8. Kids Neuroscience Centre, Sydney Children''s Hospitals Network. Sydney Medical School, University of Sydney;9. Department of Neurology Children''s National Health System, Washington, DC, USA;10. Neuromuscular and ALS center, La Timone Hospital, Aix-Marseille Université, Marseille, France;11. Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA;12. Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Germany;13. Neuromuscular Unit, Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain;14. Institut de Myologie, AP-HP, G.H. Pitié-Salpêtrière, Paris, France;15. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry Tokyo, Japan;p. Carolinas Healthcare System Neurosciences Institute, Charlotte, NC, USA;q. Department of Neuroscience, University of Padova, Italy;r. Nationwide Children''s Hospital, Columbus, OH, USA;1. Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, AP-HP, Hôpital Necker Enfants Malades, Université Paris-Cité, Paris, France;2. Service d''explorations Fonctionnelles, unité de Neurophysiologie Clinique, AP-HP, Hôpital Necker Enfants Malades, Paris, France;3. Centre Borelli - UMR 9010 Centre Borelli, Gif-sur-Yvette 91190, France;4. Université Paris Cité, IHU Imagine, Paris F-75015, France;5. Centre de Référence des Maladies Neuromusculaires, Service de Neuropédiatrie, Hôpital Timone Enfants, Marseille, France;6. Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Service de Neuropédiatrie, Hôpital Salengro CHU Lille, Lille, France;7. Centre de Références des Maladies Neuromusculaires, Service de Neurologie Pédiatrique et Réanimation, Hôpital Raymond Poincaré, AP-HP Université Paris Saclay (UVSQ), Garches, France;8. Centre de Référence des Maladies Neuromusculaires Atlantique Occitanie Caraïbes, Filnemus, Euro-NMD, Explorations Fonctionnelles, CHU Nantes, Nantes, France;9. Centre de référence Maladies neuromusculaires AOC, Neurologie pédiatrique, CHU de Bordeaux, Bordeaux, France;10. Service de neurologie pédiatrique, Hôpital Femme Mère Enfant, Lyon, France;11. Unité d''explorations neurophysiologiques, Département de neurologie, CHU de Toulouse - Hôpital Pierre-Paul Riquet, Toulouse, France;12. Service de Médecine physique et réadaptation pédiatriques, Hôpital Femme Mère Enfant, Lyon, France;13. Centre de Référence des Maladies Neuromusculaires, Hôpital Gui de Chauliac, CHU Montpellier, Montpellier, France;14. Service de neuropédiatrie, Pôle Femme Mère Enfant, CHU de Montpellier - Hôpital Gui de Chauliac, Montpellier, France;1. Neurology Area, Health in Code, A Coruña, Spain;2. Neuropediatrics Department, Virgen de las Nieves University Hospital, Granada, Spain;3. Anatomical Pathology Department, Virgen del Rocío University Hospital, Sevilla, Spain;4. Pediatric Intensive Care Unit, Virgen de las Nieves University Hospital, Granada, Spain;5. Quantitative Genomic Medicine Laboratories SL, “qGenomics”, Esplugues de Llobregat, Barcelona, Spain;6. Genetic Department, Virgen de las Nieves and San Cecilio University Hospitals, Granada, Spain;7. Pediatric Cardiology Department, Hospital Universitario Virgen de las Nieves University Hospital, Granada 18014, Spain;1. Department of Internal Medicine, SUNY Downstate Health Sciences, Brooklyn, NY, USA 11226;2. Department of Rheumatology, SUNY Downstate Health Sciences, Brooklyn, New York, USA 11226;3. Department of Pathology and Cell Biology, New York Presbyterian/Columbia University Irving Medical Centre, New York, USA 10032;4. Department of Neurology, SUNY Downstate Health Sciences, Brooklyn, New York, USA 11226;5. Division of Rheumatology, Johns Hopkins Myositis Precision Medicine Centre of Excellence, Baltimore, Maryland USA 21224 |
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| Abstract: | Our study aimed to explore the intellectual function of patients with Duchenne muscular dystrophy (DMD) in China and examine the correlation of full-scale intelligence quotient (FSIQ) with age, mutation locations, mutation class, and dystrophin isoforms. We assessed 64 boys with DMD using The Wechsler Intelligence Scales for Children-Fourth Edition and compared intellectual function at enrollment and follow-up in the 15 patients who completed the follow-up. Our findings confirm that boys with DMD may exhibit cognitive impairment, with the Working Memory Index being the most impaired. There was no significant correlation between FSIQ and age; however, a positive correlation was noted between age and the Verbal Comprehension Index. FSIQ was not associated with mutation class, the number of affected mutated exons, or mutation locations. However, there was a significant difference in FSIQ between the groups with intact and deficient Dp140. Fifteen participants adhered to glucocorticoid therapy throughout the two-year follow-up period, and eleven of them showed an improvement in FSIQ compared to their initial scores, with improvement ranging from 2 to 20. In conclusion, patients with the cumulative loss of isoforms in the brain are at a higher risk of cognitive deficits and may require early cognitive interventions. |
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