التفاصيل البيبلوغرافية
| العنوان: |
Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study. |
| المؤلفون: |
Baldanzi, Sigrid, Bevilacqua, Francesca, Lorio, Rita, Volpi, Leda, Simoncini, Costanza, Petrucci, Antonio, Cosottini, Mirco, Massimetti, Gabriele, Tognoni, Gloria, Ricci, Giulia, Angelini, Corrado, Siciliano, Gabriele |
| المصدر: |
Orphanet Journal of Rare Diseases; 4/4/2016, Vol. 11, p1-11, 11p |
| مصطلحات موضوعية: |
MYOTONIA atrophica, QUALITY of life, ANOSOGNOSIA, NEUROPSYCHOLOGICAL tests, COGNITIVE ability, NEUROPSYCHOLOGY, DIAGNOSIS, COGNITION, COGNITION disorders, CROSS-sectional method |
| مستخلص: |
Background: Myotonic dystrophy type 1 (Steinert's disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gastrointestinal tract, endocrine system, and central nervous system, finally responsible of increasing disabilities and secondary social consequences. To date, DM1-related brain involvement represents a challenging field of research. It is well known that DM1 patients frequently present neuropsychological disturbances and psychiatric comorbidities among which reduced awareness of disease burden and its progression, also defined as anosognosia, is common in clinical practice, this leading to secondary misattribution of symptoms, delay in timely diagnostic procedures and low compliance to treatment.Methods: Here we present an observational cross sectional study in which disease-related cognitive dysfunctions and quality of life were assessed by a protocol finally designed to estimate the prevalence of disease awareness in a sample of 65 adult-onset DM1 patients.Results: Our analysis showed that in DM1 patients several cognitive functions, including executive and mnesic domains with visuo-spatial involvement, were affected. The assessment of anosognosia revealed that a high percentage (51.6%) of DM1 subjects was disease unaware. The reduced illness awareness occurs across different physical and life domains, and it appears more prominent in Activities and Independence domains investigated by the Individualized Neuromuscular Quality Of Life (INQoL) questionnaire. Moreover, the unawareness resulted significantly related (at p <0.05 and p < 0.01) to the performance failure in cognitive tests, specifically in the domains of visuo-spatial memory, cognitive flexibility and conceptualization.Conclusions: The obtained data confirm, by a systematic analysis, what's the common clinical perceiving of disease unawareness in Steinert's disease, this related to the already known cognitive-behavioural impairment of frontal type in affected patients. We believe that a deep knowledge of this aspect will be useful for medical practice in the management of patients with DM1, also for guidance in occupational and social interventions, definition of outcome measures and in preparation of trial readiness. [ABSTRACT FROM AUTHOR] |
|
Copyright of Orphanet Journal of Rare Diseases is the property of BioMed Central and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
Full Text Finder