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المؤلفون: Federica Montagnese, Kristina Gutschmidt, Benedikt Schoser, Corinna Wirner, Stephan Wenninger, Krisztina Einvag
المصدر: Journal of Neurology
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Weakness, Neurology, Late onset, Interruption of enzyme replacement therapy, Pulmonary function testing, 03 medical and health sciences, 0302 clinical medicine, Germany, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Prospective Studies, Adverse effect, Prospective cohort study, Pandemics, Original Communication, Clinical outcome, Glycogen Storage Disease Type II, SARS-CoV-2, business.industry, nutritional and metabolic diseases, Pompe disease, COVID-19, alpha-Glucosidases, Enzyme replacement therapy, Discontinuation, 030104 developmental biology, Cardiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Glycogen storage disease type 2
الوصف: Background Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to progressive weakness of locomotor and respiratory muscles. Enzyme replacement therapy (ERT), administered every second week, has been proven to slow down disease progression and stabilize pulmonary function. Due to the COVID-19 pandemic in Germany, ERT was interrupted at our centre for 29 days. As reports on ERT discontinuation in LOPD are rare, our study aimed to analyse the impact of ERT interruption on the change in clinical outcome. Methods We performed a prospective cohort study in 12 LOPD patients. Clinical assessments were performed after ERT interruption and after the next three consecutive infusions. We assessed motor function by muscle strength testing, a 6-minute-walk-test, pulmonary function tests, and adverse events. For statistical analysis, an estimated baseline was calculated based on the individual yearly decline. Results The mean time of ERT interruption was 49.42 days (SD ± 12.54). During ERT interruption, seven patients reported 14 adverse events and two of them were severe. Frequent symptoms were reduced muscle endurance/increased muscle fatigability and shortness of breath/worsening of breathing impairment. After ERT interruption, significant deterioration was found for MIP%pred (p = 0.026) and MRC%pred, as well as a trend to clinical deterioration in FVC%pred and the 6MWT%pred. Conclusion Interruption of ERT was associated with a deterioration in the core clinical outcome measures. Therefore, an interruption of ERT should be kept as short as possible.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4be6222a8885032f34c2ff4a51a7df3eTest
https://doi.org/10.1007/s00415-021-10475-zTest -
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المصدر: Journal of Neurology
مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Neurology, Adolescent, media_common.quotation_subject, Audiology, Neurodegenerative, Dyslexia, 03 medical and health sciences, 0302 clinical medicine, Reading (process), Germany, medicine, Humans, Myotonic Dystrophy, Cognitive Dysfunction, Prospective Studies, Prospective cohort study, Child, Neuroradiology, media_common, Original Communication, business.industry, Cognition, medicine.disease, Spelling, 030104 developmental biology, Cognitive impairment, IQ, Cohort, Neurology (clinical), Reading disorder, business, 030217 neurology & neurosurgery
الوصف: Background Cognitive impairments in patients with myotonic dystrophy type 1 (DM1) have often been described, however, there are only few studies differentiating between partial performance disorders and mental retardation in common. This study focused on the evaluation of reading performance and the frequency of dyslexia in adult DM1 patients. Methods We performed a prospective cohort study including genetically confirmed adult DM1 patients registered in the DM registry of Germany or the internal database of the Friedrich-Baur-Institute, Munich, Germany. For the assessment of the patients’ reading and spelling performance, we used the standardized and validated test ‚Salzburger Lese- und Rechtschreibtest‘ (SLRT II). The ‚CFT-20 R Grundintelligenztest Skala 2‘ in revised ("R") version (CFT 20-R), determining the intelligence level, was appropriate to differentiate between dyslexia and general mental retardation. The diagnosis of dyslexia, the combined reading and spelling disorder, was based on the guidelines for diagnosis and therapy of children and adolescents with dyslexia 2015 (S3-guideline) providing (1) the criterion of the divergence from age level and (2) the criterion of IQ-divergence. Results Fifty-seven DM1 patients participated in our study. Evaluating the reading performance, 16 patients fulfilled the divergence criteria of the age level and 2 patients the IQ-divergence criteria. In total, the diagnosis of a reading disorder was given in 18 DM1 patients (31.6 %). In 11 out of these 18 patients with a reading disorder, a relevant impairment of spelling performance was observed with at least three spelling errors. As there are no normative values for adults in spelling performance, we assume a combined reading disorder and dyslexia, in those 11 DM1 patients (19.3 %). Regarding the separate analyses of the test procedures, in the SLRT II the performance was below average in 40.4 % of all patients for ‘word reading’ and in 61.4 % of all patients for ‘pseudoword reading’. There was a significant positive correlation between the CTG expansion size and a reading disorder (p=0.027). The average IQ of 17 examined DM1 patients was in the lower normal range (86.1 ± 19.1). 54.5 % of patients with reading disorder had a normal IQ. Conclusion The calculated prevalence of dyslexia in the DM1 study cohort was 19.3 % and thus considerably increased compared to the normal German population. As dyslexia is not equivalent to a general cognitive impairment, it is important not to miss dyslexic features in cognitive inconspicuous DM1 patients. Case-by-case one should consider a differential diagnostic approach, as individualized therapies can be offered to support dyslexic patients in their performance.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ebe56a36504c595047fff886f31331eTest
http://europepmc.org/articles/PMC7880941Test
