title: Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study.
abstract: 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.
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Unit, University of Pisa, Via Roma 67, 56126, Pisa, Italy.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Baldanzi
authors.affiliation: IRCCS San Camillo Venezia, Via Alberoni 70, Venezia, 30126, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Bevilacqua
authors.affiliation: IRCCS San Camillo Venezia, Via Alberoni 70, Venezia, 30126, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Lorio
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Unit, University of Pisa, Via Roma 67, 56126, Pisa, Italy.
authors.forename: Leda
authors.initials: L
authors.lastname: Volpi
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Unit, University of Pisa, Via Roma 67, 56126, Pisa, Italy.
authors.forename: Costanza
authors.initials: C
authors.lastname: Simoncini
authors.affiliation: Neurology and Neurophysiopathology Unit, San Camillo Forlanini Hospital, Piazza Carlo Forlanini 1, 00151, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Petrucci
authors.affiliation: Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Via Paradisa 2, 56126, Pisa, Italy.
authors.forename: Mirco
authors.initials: M
authors.lastname: Cosottini
authors.affiliation: Department of Clinical and Experimental Medicine, Psychiatry Unit, University of Pisa, Via Roma 67, 56126, Pisa, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Massimetti
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Unit, University of Pisa, Via Roma 67, 56126, Pisa, Italy.
authors.forename: Gloria
authors.initials: G
authors.lastname: Tognoni
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Unit, University of Pisa, Via Roma 67, 56126, Pisa, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Ricci
authors.affiliation: IRCCS San Camillo Venezia, Via Alberoni 70, Venezia, 30126, Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Unit, University of Pisa, Via Roma 67, 56126, Pisa, Italy. g.siciliano@med.unipi.it.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001364:Awareness; D003072:Cognition Disorders / Q000503:physiopathology; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000503:physiopathology; D011788:Quality of Life; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Disease unawareness; Myotonic dystrophy type 1; Neuropsychological impairment; Quality of life; Steinert’s disease