Browsing by Author "Savic Pavicevic, Dusanka (18435454500)"

Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder that represents the second most common cause of mental retardation in females. However, incidence and prevalence of RTT are scarcely reported. Methods: A retrospective study included all patients with RTT diagnosed between 1981 and 2012 in Serbia. Estimation of incidence and prevalence was calculated on the basis of vital statistics reported by Statistical Office of Republic of Serbia. Results: From 1981 to 2012, RTT has been diagnosed in 102 girls in Serbia. Incidence of RTT in Serbia is estimated at 0.586:10,000 female live births. We estimated the prevalence of RTT in population of females younger than 19 years at 1:8,439. Death occurred in 19 patients (18.63%), with pneumonia as the most common cause. The lethal outcome by the age of 12 years could be expected for 11% of patients. The mean age at diagnosis was 3.5 years and we have confirmed a significant trend towards earlier dianosis during studied period. Conclusions: Rett syndrome incidence in Serbia is in accordance with reports from other countries. Serbian RTT patients have increased risk for early death when compared to patients in more developed countries, most commonly due to pneumonia. There was significant trend towards early diagnosis of RTT in Serbia over recent decades. © 2015 S. Karger AG, Basel.

Aim To analyze quality of life (QoL) in a large cohort of myotonic dystrophy type 2 (DM2) patients in comparison to DM1 control group using both generic and disease specific questionnaires. In addition, we intended to identify different factors that might affect QoL of DM2 subjects. Patients and method 49 DM2 patients were compared with 42 adult-onset DM1 patients. Patients completed SF-36 questionnaire and individualized neuromuscular quality of life questionnaire (INQoL). Following measures were also included: Medical Research Council 0-5 point scale for muscle strength, Addenbrooke's cognitive examination revised for cognitive status, Hamilton rating scale for depression, Krupp's fatigue severity scale and daytime sleepiness scale (DSS) Results SF-36 total score and physical composite score did not differ between DM1 and DM2 patients (p > 0.05). However, role emotional and mental composite score were better in DM2 (p < 0.05). INQoL total score was similar in both groups (p > 0.05), although DM2 patients showed less impairment in independence (p < 0.05) and body image domains (p < 0.01). Regarding symptoms assessed by INQoL, DM2 patients showed less severe complaint of myotonia (p < 0.01). Multiple linear regression analysis showed that significant predictors of worse QoL in DM2 patients were older age, worse muscle strength and higher level of fatigue. Conclusion QoL reports of DM2 patients with the most severe form of the disease are comparable to those of DM1 patients. Special attention of clinicians should be paid to DM2 patients with older age, more severe muscle weakness and higher level of fatigue since they may be at higher risk to have worse QoL. © 2016 Elsevier B.V.

Aim To analyze quality of life (QoL) in a large cohort of myotonic dystrophy type 2 (DM2) patients in comparison to DM1 control group using both generic and disease specific questionnaires. In addition, we intended to identify different factors that might affect QoL of DM2 subjects. Patients and method 49 DM2 patients were compared with 42 adult-onset DM1 patients. Patients completed SF-36 questionnaire and individualized neuromuscular quality of life questionnaire (INQoL). Following measures were also included: Medical Research Council 0-5 point scale for muscle strength, Addenbrooke's cognitive examination revised for cognitive status, Hamilton rating scale for depression, Krupp's fatigue severity scale and daytime sleepiness scale (DSS) Results SF-36 total score and physical composite score did not differ between DM1 and DM2 patients (p > 0.05). However, role emotional and mental composite score were better in DM2 (p < 0.05). INQoL total score was similar in both groups (p > 0.05), although DM2 patients showed less impairment in independence (p < 0.05) and body image domains (p < 0.01). Regarding symptoms assessed by INQoL, DM2 patients showed less severe complaint of myotonia (p < 0.01). Multiple linear regression analysis showed that significant predictors of worse QoL in DM2 patients were older age, worse muscle strength and higher level of fatigue. Conclusion QoL reports of DM2 patients with the most severe form of the disease are comparable to those of DM1 patients. Special attention of clinicians should be paid to DM2 patients with older age, more severe muscle weakness and higher level of fatigue since they may be at higher risk to have worse QoL. © 2016 Elsevier B.V.