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Objectives: Myotonic dystrophy type 1 (DM1) is a slowly progressive multisystem disorder. Guidelines recommend multidisciplinary follow‐up. We aimed to investigate the presence of unmet health and social care needs among patients with DM1 and whether unmet needs correlated with motor function, cognitive impairments, or quality of life. Material and Methods: Patients were 22 adults with DM1. "Needs and Provisions Complexity Scale" (NPCS) was applied to evaluate the individual's needs and provision of health and social services. The Muscular Impairment Rating Scale (MIRS) was used to measure motor function and disease stage. All patients underwent neuropsychological testing. The EQ‐5D‐3L questionnaire was used to evaluate the patients' health‐related quality of life (HRQoL). Results: Median time from diagnosis was 11 years (range: 1‐40). Twenty patients had developed needs related to social care, personal care, and rehabilitation that had not been met, whereas need for medical follow‐up was largely met. The more pronounced the muscular impairment, the more unmet needs were experienced by DM1 patients (r = 0.50, P = 0.019). Degree of unmet needs did not correlate with full‐scale IQ (r = −0.27, P = 0.23) or HRQoL (r = −0.14, P = 0.55). Conclusion: Using NPCS, we discovered that patients with DM1 had unmet needs with respect to social care, personal care, and rehabilitation although their need for medical follow‐up was met. Thus, the use of NPCS helped bring our practice in better accordance with guidelines. A higher MIRS grade should alert the clinician to the likelihood of unmet needs. [ABSTRACT FROM AUTHOR]

Introduction Generic patient reported outcome measures have had varied success in tracking QoL in myotonic dystrophy type 1 ( DM1). Aim To analyze changes of Individualized Neuromuscular Quality of Life questionnaire ( INQoL) scores in clinic patients with DM1 over a 6-year period. Method Patients completed the INQoL at baseline and after a 6-year period through their attendance in a neurology outpatient clinic. Severity of muscular involvement in DM1 was analyzed using the Muscular Impairment Rating Scale ( MIRS). Results Ninety-nine DM1 patients completed a baseline visit. Sixty-seven of these patients were retested at an interval time. The overall INQoL score improved in our sample of patients ( P<.05) as did the following subscales: myotonia ( P<.05), pain ( P<.05), activities ( P<.01), social relationships ( P<.01), and body image ( P<.05). No changes were observed for the independence and emotions scales. There were no differences in mean change of INQoL scores between patients with worsened MIRS and those with no change in MIRS scale after follow-up ( P>.05). Conclusion Individualized Neuromuscular Quality of Life questionnaire scores improved in our cohort of DM1 patients during a 6-year period. INQoL score did not correlate with progression of muscle weakness. This must be better understood before the selection of the instrument for use in trials to measure therapeutic benefit in DM1 patients. [ABSTRACT FROM AUTHOR]

Background - Myotonic dystrophy type 1 ( DM1) is the most common muscular dystrophy in adults. There is a complete lack of studies that assessed quality of life (QoL) trajectory during time in DM1 cohorts. Aim - To analyze changes of QoL in patients with DM1 during a 5-year follow-up period and to assess responsiveness of the SF-36 questionnaire. Patients and Method - At the baseline, this study comprised 84 DM1 patients, of whom 62 were retested after the mean period of 64.2 ± 3.9 months. Severity of muscular weakness was assessed using the Muscular Impairment Rating Scale ( MIRS). Patients completed Serbian version of the SF-36 questionnaire as a measure of health-related QoL. Results - After 5 years, MIRS score of our DM1 patients showed significant progression of 0.5 grade ( P < 0.01). All mental subdomains, role physical, and total SF-36 scores significantly improved after 5 years ( P < 0.01). Unexpectedly, worsening of muscular weakness from mild to severe was in association with improvement of QoL. Conclusion - QoL improved in our cohort of DM1 patients during a 5-year period despite the progression of the disease. SF-36 should be used with caution as a patient-reported outcome measure in DM1 clinical trials. [ABSTRACT FROM AUTHOR]

Objectives 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. [ABSTRACT FROM AUTHOR]

Objectives To evaluate facial memory ability ( FMA) in patients with myotonic dystrophy type 1 ( DM1). We also explored the relationship between FMA and neuropsychological data, disease-related factors, and CTG repeat expansion size. Materials and methods Patients with DM1 ( n = 33) and healthy subjects ( n = 30) were tested with the faces task of the Rivermead Behavioural Memory Test - Extended version ( RBMT-E) and an additional set of neuropsychological tests. Clinical data were collected, and CTG repeat size was quantified in blood lymphocytes. Results Low results on the faces task were more common in patients with DM1 compared with healthy subjects ( P < 0.05), with 36% of the patients showing a poor/impaired performance. DM1 patients with deficits in FMA performed significantly worse on tests measuring visual-construction ability and memory. Furthermore, these patients more often falsely recognised unknown faces as known. Deficits in FMA were not associated with any disease-related factor, including CTG repeat expansion size. Conclusions These findings revealed deficits in FMA in the DM1 group, which was associated with reduced construction- and visual memory ability. [ABSTRACT FROM AUTHOR]

Objectives To analyze frequency and type of personality pattern in patients with myotonic dystrophy type 1 ( DM1), to correlate these findings with clinical data, and to assess its possible influence on quality of life ( Qo L). Materials and Methods This cross-sectional study comprised 62 patients with DM1. Following measures were used: Muscular Impairment Rating Scale, Raven's Standard Progressive Matrices ( RSPM), Millon Multiaxial Clinical Inventory I ( MMCI), SF-36, and Individualized Neuromuscular Quality of Life ( INQoL) questionnaires. Results The presence of at least one pathological personality trait with score above 85 on MMCI was found in 47 (75.8%) patients. After clinical interview, 36 (58.1%) subjects had significant personality impairment. The most common personality trait in our cohort of patients was dependent found in 51.6% of patients, followed by paranoid (38.7%). Higher score on dependent personality scale correlated with lower education (rho = −0.251, P = 0.049). Dependent personality scores significantly differed between patients with physical and intellectual work (93.1 ± 8.9 vs 66.9 ± 31.7, P = 0.011). Paranoid score was higher in patients with lower education (rho = −0.293, P = 0.021), lower score on RSPM test (rho = −0.398, P = 0.004) and larger number of CTG repeats (rho = 0.254, P = 0.046). Presence of dependent personality was not in association with Qo L scores ( P > 0.05). On the other hand, patients with paranoid personality trait had worse Qo L than those without it ( P < 0.05). Conclusion Almost 60% of our patients with DM1 had clinically significant personality impairment, with dependent and paranoid personality patterns being the most common. Paranoid personality may decrease QoL in these patients, which gives us new opportunities for symptomatic therapy in DM1. [ABSTRACT FROM AUTHOR]

Contardi S, Pizza F, Falzone F, D'Alessandro R, Avoni P, Di Stasi V, Montagna P, Liguori R. Development of a disability scale for myotonic dystrophy type 1. Acta Neurol Scand: 2012: 125: 431-438. © 2011 John Wiley & Sons A/S. Objectives - Myotonic dystrophy type 1 (DM1) is a multisystem disorder. Many tests in the literature have evaluated single aspects of DM1 patients, mainly focusing on muscular impairment, without an overall quantification of the different disease-specific neurological features. We developed and validated a new functional scale for DM1 patients based on neuromuscular impairment (NI) and disability. Materials and methods - Thirty-three patients were tested in basal condition, 18 were re-evaluated after therapeutic intervention with mexiletine, and 13 at one year follow-up without treatment. The scale includes 21 ordinal items in four areas: neuropsychology, motricity, myotonia and daily life activities. We evaluated inter- and intra-observer reliability (intraclass correlation coefficient, ICC and Spearman correlations, respectively), internal consistency (Cronbach's alpha), external validity (Spearman correlations between each area and other clinical and objective measurements and scales), and sensitivity to clinical changes after treatment or at follow-up. Results - Our analysis provided good results for inter-observer agreement (ICC = 0.72-0.97), intra-observer reliability, and internal consistency for all areas (Cronbach's α > 0.73). Total score and single area subscores were significantly correlated to objective measurements, disease duration and multisystem involvement. Finally, the scale was sensitive to clinical changes disclosing a significant improvement after treatment in the items assessing myotonia, and also to disease progression showing a significant worsening in all areas but myotonia in untreated patients. Discussion - Our scale provides a new practical measure to evaluate NI and disability of DM1 patients. Further longitudinal studies are warranted to confirm its reliability in tracking disease progression and severity over a longer period of time. [ABSTRACT FROM AUTHOR]

Rakocevic Stojanovic V, Peric S, Lavrnic D, Popovic S, Ille T, Stevic Z, Basta I, Apostolski S. Leptin and the metabolic syndrome in patients with myotonic dystrophy type 1. Acta Neurol Scand: 2010: 121: 94–98. © 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objectives – To evaluate serum leptin concentration and its relation to metabolic syndrome (MSy) in non-diabetic patients with myotonic dystrophy type 1 (DM1). Materials and methods – This study included 34 DM1 patients, and the same number of healthy subjects matched for age, sex and body mass index (BMI). Results – DM1 patients had increased BMI and insulin resistance, and increased leptin and insulin concentrations, but the other features of MSy such as diabetes, glucose intolerance and hypertension were not detected in DM1 patients. Serum leptin levels were higher in patients with DM1 than in healthy controls (8.5 ± 6.6 ng/ml vs 3.6 ± 2.9 ng/ml in men, and 13.9 ± 10.0 ng/ml vs 10.9 ± 6.9 ng/ml in women, respectively). In DM1 patients, leptin levels correlated with BMI, fasting insulin and insulin resistance (HOMA) ( P < 0.01). Conclusions – The leptin overproduction correlated with insulin resistance in DM1 patients but the significance of this finding remains unclear. [ABSTRACT FROM AUTHOR]

Krndija D, Savić D, Mladenović J, Rakočević-Stojanović V, Apostolski S, Todorović S, Romac S. Haplotype analysis of the DM1 locus in Serbian population.Acta Neurol Scand 2005: 111: 274–277. Blackwell Munksgaard 2005.Analysis of the CTG-repeat number and three biallelic markers,Alu(+/−),HinfI(+/−), andTaqI(+/−), in theDMPKgene in healthy and myotonic dystrophy type 1 (DM1) Serbian individuals. Also, the consideration of haplotypes in the light of the proposed models of CTG-repeat evolution and origin of the DM1 mutation.Markers were analyzed by PCR and haplotypes were obtained on 203 unrelated normal chromosomes and 24 unrelated DM1 chromosomes.A strong linkage disequilibrium was detected between the three biallelic markers alone (P < 0.0001) and between distinct CTG-repeat size classes and reconstructed haplotypes. Greater than 98% of normal chromosomes contain (+++) and (− − −) haplotypes. The (+++) haplotype is the most common, while the (CTG)9−17 are the most frequent alleles. We found a complete association of (+++) haplotype with (CTG)≥18 and mutated alleles.(CTG)9−17/(+++) haplotype is the ancestral haplotype and DM1 mutation occurred on (CTG)18−35/+++ chromosome. [ABSTRACT FROM AUTHOR]