Julie Auclair

The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy

Socioeconomic deprivation has long been recognized as a prominent feature of myotonic dystrophy type 1 (DM1), but studies performed before the discovery of the mutation causing DM1 may have suffered an ascertainment bias towards the more severe forms of the disease. We have sought to clarify the relationship between CTG repeats, muscular impairment, and socioeconomic characteristics of 200 patients with DM1. Patients with DM1 reported lower educational attainment, lower employment rate, lower family income, and higher reliance on social assistance than the reference population. Logistic regression showed, on one hand, that CTG repeats and marital status were significant predictors of social assistance recipiency and, on the other hand, that CTG repeats and gender were significant predictors of low social support from family, after adjustment for age, gender, degree of muscular impairment, CTG repeats, educational level, and marital status. For example, each additional 100 CTG repeats was found to increase the odds of relying on social assistance by about 35% and having low social support by about 22%. The chances of experiencing socioeconomic deprivation are loaded heavily against patients with DM1. The relationship between increased CTG repeat length and higher risk of material and social deprivation must be acknowledged in the clinical management of DM1.

Risk Factors for Work-related Fatigue in Students With School-Year Employment

PURPOSE To explore potential risk factors for acute and chronic work-related fatigue in students working at a paid job while pursuing school studies. Although work-related fatigue was identified as a potential hazard for youth health, academic achievement, and occupational safety, very few studies have specifically addressed its correlates and possible predictors. METHODS Cross-sectional data from an ongoing prospective cohort study of health risk behaviors in adolescents was used to identify factors associated with increased levels of acute and chronic fatigue in 209 students aged 17-18 years working during the school year. Multiple stepwise regression analyses were performed with acute and chronic fatigue levels as dependent variables, and demographic, work, and health factors as potential explanatory variables. RESULTS Average hours worked per week by students was 14.7 hours. It was observed that higher psychological distress, poorer health perception, greater sleep debt, and higher exposure to physical work factors were associated with higher levels of acute fatigue. Also, it was observed that higher psychological distress, poorer health perception, higher exposure to physical work factors, and holding multiple jobs were associated with higher levels of chronic fatigue. The number of hours worked weekly was associated with neither acute nor chronic work-related fatigue. CONCLUSIONS Findings suggest that prevention strategies devised to minimize work-related fatigue in students should consider exposure to physical work factors. Results also re-emphasize the importance of obtaining sufficient sleep so as to prevent high levels of acute work-related fatigue.

Development and aetiology of body dissatisfaction in adolescent boys and girls

This longitudinal study aims to describe the development of body dissatisfaction (BD), measured with the Contour Drawing Rating Scale, between the ages of 14 and 18, and to identify factors associated with BD at age 18, among 413 adolescents. Between the ages of 14 and 18, the proportion of girls wanting to be thinner increased, although it remained unchanged among boys. A ratio of 1:2 girls and 1:5 boys reported having seriously tried to lose weight. Factors associated with BD in girls at age 18 were (1) wanting to be thinner, (2) body mass index (BMI), (3) weight control behaviours and (4) negative comments about weight. Factors associated with BD in boys at age 18 were (1) wanting to be thinner or bigger, (2) BMI, (3) having experienced sexual intercourse and (4) negative comments about weight. The high prevalence of BD and weight-related concerns suggest a need for early interventions.

Clinical, Psychosocial, and Central Correlates of Quality of Life in Myotonic Dystrophy Type 1 Patients

Aims: To identify sociodemographic, clinical, and central correlates of health-related quality of life (HRQoL) in DM1 patients. Methods: 200 DM1 patients had assessments of muscular impairment, CTG repeats, and intelligence. Validated instruments were used to assess sociodemographic and clinical factors as well as social support, social participation, daytime sleepiness, fatigue, personality, mood, and quality of life. Regression analysis was used to identify correlates of SF-36 physical and mental component summary scores. Results: Patients scored lower on all SF-36 physical health subscales compared with normative data but did not differ with respect to mental health function. Regression analysis revealed that psychological distress, fatigue, severe muscular impairment, emotional stability, not having worked within the last 12 months, and lower intellectual quotient were associated with lower scores in physical health function. Moreover, neuroticism, daytime sleepiness, dissatisfaction with social participation, and lower conscientiousness were associated with lower scores in mental health function. Conclusion: DM1 has an impact on SF-36 physical summary scores but not on mental summary scores. Factors such as fatigue, daytime sleepiness, psychological distress, unemployment, and social participation dissatisfaction that significantly affect HRQoL in DM1 are amenable to treatment and psychosocial interventions, namely by providing care that integrate health, social, and community services.

Psychosocial impact of predictive testing for myotonic dystrophy type 1

In the Saguenay‐Lac‐Saint‐Jean region (Quebec, Canada), a predictive DNA‐testing program for myotonic dystrophy type 1 (DM1) has been available as a clinical service since 1988. From 1 to 12 years (median, 5 years) after receiving predictive testing, a total of 308 participants (44 carriers and 264 non‐carriers) answered a questionnaire to determine the psychosocial impact of this genetic testing. The main reasons for wanting to be tested were to learn if children are at risk for DM1 or for reproductive decision making (75%) and to relieve the uncertainty for themselves (17%). The majority of participants (96.1%) remembered correctly their test result. At the time of the survey, the perception of the general well‐being, the psychological distress (Psychiatric Symptom Index), and the self‐esteem (Rosenberg Self‐Esteem Scale) were similar in carriers, in non‐carriers, and in the reference (Quebec) population. When participants indicated a change in different aspects of their lives following predictive testing, it was perceived as a change for the better by non‐carriers and as a change for the worse by carriers. Nevertheless, for a majority of carriers and of non‐carriers, the test result did not bring changes in their lives. All respondents believed that predictive testing should be available for the at‐risk population and the vast majority of carrier and of non‐carriers would recommend the use of predictive testing to their family members. Predictive testing for individuals at‐risk of DM1 can be offered safely within a well‐organized clinical and genetic counseling program that includes careful pre‐test counseling, pre‐test clinical assessment, post‐test psychological support, and follow‐up for those identified as carriers.

A prospective study of the impact of child maltreatment and friend support on psychological distress trajectory: From adolescence to emerging adulthood

BACKGROUND Transition into adulthood is a critical developmental period that may be influenced by adverse life events as well as by protective factors. This study aimed at investigating the effect of different forms of child maltreatment experienced prior to age 14 (i.e., sexual abuse, physical abuse and exposure to intimate partner violence), and of friend support at age 14 on the psychological distress trajectory from age 14 to 24. METHODS Participants were 605 adolescents from the general population involved in a 10-year longitudinal study. Psychological distress was evaluated at ages 14, 16, 18 and 24. Child maltreatment prior to 14 years was retrospectively assessed at 14 and 24 years while perception of support from friends was evaluated at age 14. RESULTS Multilevel growth modeling indicated that psychological distress followed a significant decreasing curvilinear trajectory, with participants reporting fewer distressing psychological symptoms after 18 years. All three forms of child maltreatment, as well as their cumulative effect, predicted more psychological distress over 10 years above and beyond the protective effect of support from friends. Higher support from friends at age 14 was related to lower distress at baseline andover 10 years, beyond the effect of child maltreatment. LIMITATIONS Self-report nature of all measures, attrition, and measures of child maltreatment forms. CONCLUSIONS Psychological distress decreased during the transition from adolescence to emerging adulthood. Results also revealed the detrimental impact of child maltreatment and the promotive role of friend support, which underscore the importance of early intervention.

Clinical and Genetic Knowledge and Attitudes of Patients with Myotonic Dystrophy Type 1

Aims: The goal was to assess clinical and genetic knowledge and attitudes in patients affected by myotonic dystrophy type 1 (DM1). Methods: Two hundred patients with molecular confirmation of the diagnosis of DM1 completed a multi-choice questionnaire. DM1 patients’ knowledge and views were compared to clinically normal DM1 noncarriers (n = 264) and controls (n = 1,474). Results: Knowledge of the DM1 mode of inheritance was better in noncarriers than in patients (p < 0.001). Noncarriers were more aware than DM1 patients of the common clinical characteristics of DM1 such as limitations in physical activities and problems related to employment, schooling, activities of daily living, parenthood, peer relationships, and personality (p < 0.001). Compared to controls, DM1 patients felt less informed about the availability of clinical genetic services (p < 0.05) and new genetic technologies (p < 0.001). Among patients, logistic regression revealed that each additional year of education (p < 0.05) and each additional 100 CTG repeats (p < 0.01), respectively, increased and decreased the odds of knowing the DM1 mode of inheritance by about 23% and 18% respectively, independently of age, age at onset of symptoms, gender, severity of muscular impairment, and intellectual quotient. Conclusions: DM1 patients’ genetic knowledge is significantly dependent of the level of education and the number of CTG repeats. Healthcare providers should be aware of this situation in order to adjust counselling and education accordingly.