Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that is characterized by progressive muscle weakness, resulting in disability and premature death. Onset of symptoms typically occurs at 2–3 years of age, and disease progression is managed through treatment with corticosteroids. The...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.1020059/full |
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| author | Abdulaziz S. AlSaman Fouad Al Ghamdi Ahmed K. Bamaga Ahmed K. Bamaga Nahla AlShaikh Nahla AlShaikh Nahla AlShaikh Mohammed Al Muqbil Mohammed Al Muqbil Mohammed Al Muqbil Osama Muthaffar Osama Muthaffar Fahad A. Bashiri Baleegh Ali Arzu Mulayim Elena Heider Abdullah A. Alshahrani Mohammed A. Al Muhaizea |
| author_facet | Abdulaziz S. AlSaman Fouad Al Ghamdi Ahmed K. Bamaga Ahmed K. Bamaga Nahla AlShaikh Nahla AlShaikh Nahla AlShaikh Mohammed Al Muqbil Mohammed Al Muqbil Mohammed Al Muqbil Osama Muthaffar Osama Muthaffar Fahad A. Bashiri Baleegh Ali Arzu Mulayim Elena Heider Abdullah A. Alshahrani Mohammed A. Al Muhaizea |
| author_sort | Abdulaziz S. AlSaman |
| collection | DOAJ |
| description | Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that is characterized by progressive muscle weakness, resulting in disability and premature death. Onset of symptoms typically occurs at 2–3 years of age, and disease progression is managed through treatment with corticosteroids. The aim of this interim analysis is to increase disease awareness and improve patient management in Saudi Arabia (SA) through the use of data from an ongoing ambispective, observational, multicenter study evaluating characteristics of patients aged 1–14 years with genetically confirmed DMD in SA. This interim analysis examined the secondary outcomes from the study–the demographics and clinical characteristics of patients included retrospectively [data recorded (enrollment visit) between January 2014 and September 2020] and prospectively between September 2020 and April 2021. The primary outcome–the list of DMD gene mutations for the study population–will be reported at a later date. There were 177 eligible patients. Mean, standard deviation (SD) age at enrollment was 7.5 (3.0) years. Median (min, max) age at diagnosis was 7.0 (1.3, 13.8) years. At enrollment, 28.9% of patients were full-time wheelchair users, 50.0% of ambulatory patients could run, and 63.9% could climb stairs. The mean (SD) ages of patients at enrollment who were unable to run and climb stairs were 8.0 (2.7) and 7.6 (3.0) years, respectively. Speech delay (19.4%) and learning difficulties (14.9%) were the most commonly reported intellectual impairments. Physical therapy (84.2%) was the most common choice for initial management of DMD. Only 40.7% of patients received corticosteroid therapy as part of their initial management plan, rising to 59.1% at enrollment. Devices were given to 28.8% of patients for initial management, most commonly ankle-foot orthoses (26.0%) and wheelchairs (6.2%). This analysis reports data from the largest study to date to capture demographics and clinical characteristics of DMD patients in SA. The interim results show a relatively late DMD diagnosis age compared with that in other countries, and 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 SA. |
| first_indexed | 2024-04-12T13:57:46Z |
| format | Article |
| id | doaj.art-48f3a8dd2e8649f4b391f6da29efacd2 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-12T13:57:46Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-48f3a8dd2e8649f4b391f6da29efacd22022-12-22T03:30:18ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-09-011010.3389/fped.2022.10200591020059Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi ArabiaAbdulaziz S. AlSaman0Fouad Al Ghamdi1Ahmed K. Bamaga2Ahmed K. Bamaga3Nahla AlShaikh4Nahla AlShaikh5Nahla AlShaikh6Mohammed Al Muqbil7Mohammed Al Muqbil8Mohammed Al Muqbil9Osama Muthaffar10Osama Muthaffar11Fahad A. Bashiri12Baleegh Ali13Arzu Mulayim14Elena Heider15Abdullah A. Alshahrani16Mohammed A. Al Muhaizea17Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi ArabiaNeuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi ArabiaNeurology Division, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi ArabiaDepartment of Pediatrics, Ministry of National Guard Health Affairs, Jeddah, Saudi ArabiaCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi ArabiaKing Abdullah International Medical Research Center, Jeddah, Saudi ArabiaCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi ArabiaDivision of Pediatric Neurology, King Abdullah Specialized Children’s Hospital, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia0King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi ArabiaNeurology Division, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia1Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia2King Saud Medical City, Riyadh, Saudi Arabia3PTC Therapeutics, Zug, Switzerland3PTC Therapeutics, Zug, Switzerland4King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia5Neuroscience Centre, King Faisal Specialist Hospital and Research Centre, College of Medicine, Alfaisal University, Riyadh, Saudi ArabiaDuchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that is characterized by progressive muscle weakness, resulting in disability and premature death. Onset of symptoms typically occurs at 2–3 years of age, and disease progression is managed through treatment with corticosteroids. The aim of this interim analysis is to increase disease awareness and improve patient management in Saudi Arabia (SA) through the use of data from an ongoing ambispective, observational, multicenter study evaluating characteristics of patients aged 1–14 years with genetically confirmed DMD in SA. This interim analysis examined the secondary outcomes from the study–the demographics and clinical characteristics of patients included retrospectively [data recorded (enrollment visit) between January 2014 and September 2020] and prospectively between September 2020 and April 2021. The primary outcome–the list of DMD gene mutations for the study population–will be reported at a later date. There were 177 eligible patients. Mean, standard deviation (SD) age at enrollment was 7.5 (3.0) years. Median (min, max) age at diagnosis was 7.0 (1.3, 13.8) years. At enrollment, 28.9% of patients were full-time wheelchair users, 50.0% of ambulatory patients could run, and 63.9% could climb stairs. The mean (SD) ages of patients at enrollment who were unable to run and climb stairs were 8.0 (2.7) and 7.6 (3.0) years, respectively. Speech delay (19.4%) and learning difficulties (14.9%) were the most commonly reported intellectual impairments. Physical therapy (84.2%) was the most common choice for initial management of DMD. Only 40.7% of patients received corticosteroid therapy as part of their initial management plan, rising to 59.1% at enrollment. Devices were given to 28.8% of patients for initial management, most commonly ankle-foot orthoses (26.0%) and wheelchairs (6.2%). This analysis reports data from the largest study to date to capture demographics and clinical characteristics of DMD patients in SA. The interim results show a relatively late DMD diagnosis age compared with that in other countries, and 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 SA.https://www.frontiersin.org/articles/10.3389/fped.2022.1020059/fullduchenne muscular dystrophyneuromuscular disordergenetic diagnosispatient demographicsSaudi Arabiamuscular dystrophy |
| spellingShingle | Abdulaziz S. AlSaman Fouad Al Ghamdi Ahmed K. Bamaga Ahmed K. Bamaga Nahla AlShaikh Nahla AlShaikh Nahla AlShaikh Mohammed Al Muqbil Mohammed Al Muqbil Mohammed Al Muqbil Osama Muthaffar Osama Muthaffar Fahad A. Bashiri Baleegh Ali Arzu Mulayim Elena Heider Abdullah A. Alshahrani Mohammed A. Al Muhaizea Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia Frontiers in Pediatrics duchenne muscular dystrophy neuromuscular disorder genetic diagnosis patient demographics Saudi Arabia muscular dystrophy |
| title | Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia |
| title_full | Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia |
| title_fullStr | Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia |
| title_full_unstemmed | Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia |
| title_short | Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia |
| title_sort | patient demographics and characteristics from an ambispective observational study of patients with duchenne muscular dystrophy in saudi arabia |
| topic | duchenne muscular dystrophy neuromuscular disorder genetic diagnosis patient demographics Saudi Arabia muscular dystrophy |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.1020059/full |
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