title: Psychological characteristics of patients with myotonic dystrophy type 1.
abstract: OBJECTIVE
  Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy. It is associated with motor symptoms but patients also display non-motor symptoms such as particular personality traits. Studies have reported mixed results about personality characteristics which may be attributable to small sample sizes, different disease severity of groups studied, and use of different questionnaires or method. This study aimed to describe the psychological characteristics of a large cohort of patients with DM1, to characterize those at risk of developing a psychiatric disorder, and to compare characteristics between two DM1 phenotypes, a mild and more severe adult-onset phenotype.
  
  
  METHODS
  Two hundred patients with DM1 (152 adult-onset; 48 mild) were asked to complete questionnaires assessing personality traits, psychological symptoms, self-esteem, and suicidal risk. Neurological and neuropsychological assessments were performed to compare personality characteristics to clinical and cognitive measures.
  
  
  RESULTS
  Patients with DM1 globally showed personality traits and psychological symptoms in the average range compared to normative data, with normal levels of self-esteem and suicidal ideation. However, 27% of patients were found to be at high risk of developing a psychiatric disorder. Moreover, psychological traits differed across phenotypes, with the most severe phenotype tending to show more severe psychological symptoms. The presence of higher phobic anxiety and lower self-esteem was associated with lower education, a higher number of CTG repeats, more severe muscular impairment, and lower cognitive functioning (P < 0.001).
  
  
  CONCLUSIONS
  Different phenotypes should thus be taken into account in clinical settings for individual management of patients and optimizing therapeutic success.
authors.affiliation: Rotman Research Institute, Baycrest Center, Toronto, ON, Canada.|Université du Québec à Montréal, Montréal, QC, Canada.
authors.forename: J A
authors.initials: JA
authors.lastname: Bertrand
authors.affiliation: Centre de santé et de services sociaux de Chicoutimi, Chicoutimi, QC, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Jean
authors.affiliation: Université du Québec à Chicoutimi, Chicoutimi, QC, Canada.|ÉCOBES - Recherche et transfert, Cégep de Jonquière, Jonquière, QC, Canada.
authors.forename: L
authors.initials: L
authors.lastname: Laberge
authors.affiliation: Clinique des maladies neuromusculaires, Centre de santé et de services sociaux de Jonquière, Jonquière, QC, Canada.|Université de Sherbrooke, Sherbrooke, QC, Canada.
authors.forename: C
authors.initials: C
authors.lastname: Gagnon
authors.affiliation: Clinique des maladies neuromusculaires, Centre de santé et de services sociaux de Jonquière, Jonquière, QC, Canada.|Université de Sherbrooke, Sherbrooke, QC, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Mathieu
authors.affiliation: Université du Québec à Montréal, Montréal, QC, Canada.
authors.forename: J F
authors.initials: JF
authors.lastname: Gagnon
authors.affiliation: Université du Québec à Chicoutimi, Chicoutimi, QC, Canada.
authors.forename: L
authors.initials: L
authors.lastname: Richer
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications / Q000523:psychology*; D009483:Neuropsychological Tests; D010641:Phenotype; D011795:Surveys and Questionnaires
keywords: adult-onset myotonic dystrophy type 1; mild myotonic dystrophy type 1; myotonic dystrophy type 1; personality traits; psychological symptoms