Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
| العنوان: | Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1 |
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| المؤلفون: | Guillaume Bassez, Baziel G.M. van Engelen, Hanns Lochmüller, Kristina Gutschmidt, Aura Cecilia Jimenez-Moreno, Benedikt Schoser, Darren G. Monckton, Stephan Wenninger, Fiona Hogarth, Sarah A. Cumming, Ferroudja Daidj, Kees Okkersen, Hans Knoop |
| المساهمون: | APH - Mental Health, Medical Psychology |
| المصدر: | Neurology: Genetics article-version (Version of Record) 3 Neurology. Genetics, 7 Neurology: Genetics. Lippincott Williams and Wilkins Neurology. Genetics, 7, 2 |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | medicine.medical_specialty, Clinical trials Randomized controlled (CONSORT agreement), medicine.medical_treatment, MEDLINE, Disease, Myotonic dystrophy, Article, 03 medical and health sciences, All Neuropsychology/Behavior, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Trial registration, Genetics (clinical), Depression (differential diagnoses), Muscle disease, 0303 health sciences, Walking test, business.industry, 030305 genetics & heredity, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Checklist, 3. Good health, Cognitive behavioral therapy, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery |
| الوصف: | ObjectiveTo assess the association between variant repeat (VR) interruptions in patients with myotonic dystrophy type 1 (DM1) and clinical symptoms and outcome measures after cognitive behavioral therapy (CBT) intervention.MethodsAdult patients with DM1 were recruited within the OPTIMISTIC trial (NCT02118779). Disease-related history, current clinical symptoms and comorbidities, functional assessments, and disease- and health-related questionnaires were obtained at baseline and after 5 and 10 months. After genetic analysis, we assessed the association between the presence of VR interruptions and clinical symptoms' long-term outcomes and compared the effects of CBT in patients with and without VR interruptions. Core trial outcome measures analyzed were: 6-minute walking test, DM1-Activ-C, Checklist Individual Strength Fatigue Score, Myotonic Dystrophy Health Index, McGill-Pain questionnaire, and Beck Depression inventory—fast screen. Blood samples for DNA testing were obtained at the baseline visit for determining CTG length and detection of VR interruptions.ResultsVR interruptions were detectable in 21/250 patients (8.4%)—12 were assigned to the standard-of-care group (control group) and 9 to the CBT group. Patients with VR interruptions were significantly older when the first medical problem occurred and had a significantly shorter disease duration at baseline. We found a tendency toward a milder disease severity in patients with VR interruptions, especially in ventilation status, mobility, and cardiac symptoms. Changes in clinical outcome measures after CBT were not associated with the presence of VR interruptions.ConclusionsThe presence of VR interruptions is associated with a later onset of the disease and a milder phenotype. However, based on the OPTIMISTIC trial data, the presence of VR interruptions was not associated with significant changes on outcome measures after CBT intervention.Trial Registration InformationClinicalTrials.govNCT02118779. |
| وصف الملف: | application/pdf |
| تدمد: | 2376-7839 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7abe38598b83a3d21ac3bed8f865ebcTest https://pubmed.ncbi.nlm.nih.gov/33884298Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....b7abe38598b83a3d21ac3bed8f865ebc |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23767839 |
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