Restless legs syndrome (RLS) is a sensorimotor disorder that often starts at a young age and has a chronic progression throughout life. It has a very high incidence, affecting 10% of the general population. The majority of cases are familial and the genetic nature of the disorder has been demonstrated in twin studies. RLS segregates in an autosomal dominant way in the majority of families. This data has incited a search for genetic factors responsible for RLS using linkage as the approach. Dr. Rouleau's laboratory has one of the world's largest collections of RLS pedigrees. These families are mostly of French Canadian (FC) origin. / Using these families, two novel candidate loci, on chromosomes 16p and 20p, were discovered. Also, previously described candidate loci on chromosomes 9p and 14q were replicated in this cohort of families. / A duplication of a large part of a functional candidate gene in the locus on chromosome 20, Signal Regulatory Protein beta 1 (SIRPB1), was discovered in individuals affected with RLS from a FC pedigree, in which linkage to this locus was described. The duplication segregates with the disease status in the family, but its role in RLS pathogenesis has yet to be demonstrated. / No disease-causing mutations were discovered in the chromosome 16 locus. Analysis of several functional and positional candidate genes in previously described loci on chromosomes 12 and 14 did not reveal disease-causing mutations. / A follow up of these studies is necessary in order to confirm the implication of SIRPB1 in RLS pathogenesis, and to detect novel gene(s) whose deregulation leads to this disorder.

Introduction: Restless legs syndrome (RLS) is a common neurological disorder affecting 10% of the population. Most antidepressants exacerbate symptoms; however, correlational studies have noted symptom improvement with bupropion. The purpose of the current study was to examine whether, in a controlled study, bupropion would improve the symptoms of RLS, or at least not exacerbate them. Methods: This was a double-blinded, randomized controlled trial. Twenty-nine participants with moderate to severe RLS received 150 mg sustained-release bupropion once daily, and 31 control participants received a placebo. Participants were followed for 6 weeks and completed standardized tools, including the International Restless Legs Syndrome Study Group (IRLSSG) severity scale. Results: The primary outcome was change from baseline in IRLSSG severity score; lower scores were associated with improved symptoms. At 3 weeks, IRLSSG scores were 10.8 points lower in the bupropion group and 6.0 points lower in the placebo group (P = .016). At 6 weeks, IRLSSG scores were 10.4 points lower in the bupropion group and 7.6 points lower in the placebo group (P = .108). Bupropion was more effective than placebo in the treatment of RLS at 3 weeks; however, this difference was not statistically significant at 6 weeks. Conclusions: The data from our study suggest that bupropion does not exacerbate the symptoms of RLS and may be a reasonable choice if an antidepressant is needed in individuals with RLS. Larger studies that include titration of bupropion should be considered to determine if bupropion is appropriate for primary treatment of RLS, particularly considering the lower cost and favorable side effect profile compared with currently recommended first-line dopamine agonists.

No description available.

thesis submitted to the Faculty of Science, University of the Witwatersrand, Johannesburg, in fulfilment of the requirements for the degree Doctor of Philosophy. Johannesburg, 2013 / Restless Legs Syndrome (RLS) and Periodic Limb Movements (PLM) are common neurological disorders for which the underlying aetiology is not fully understood. Currently RLS and PLM are thought to be caused by a central deficiency of dopamine or other functional abnormalities of the central nervous system. The work included in this thesis investigated different new methods of assessing the sensory and motor features of RLS and PLM, in an attempt to extend our understanding of their aetiology and improve the accuracy of diagnosis of these conditions. The first two studies in the thesis described and characterized the sensations of RLS symptoms, and whether they are influenced by the presence of pain, in an English speaking South African population. The most frequently cited descriptors were different to those used in the current RLS diagnostic criteria. Inclusion of the most commonly used RLS descriptors in the diagnostic criteria may help to improve the accuracy of RLS diagnosis. Patients who experienced painful RLS had greater McGill Pain Questionnaire scores and used different terms to describe their RLS to those that did not have painful RLS sensations. The third project quantified the responses of the Hoffman and patellar reflexes in RLS patients using electromyography and kinematics. The RLS patients exhibited hyporeflexia in the evening compared to the morning, and compared to control participants. This data suggests that RLS is not the result of a global state of hyperexcitability, as the literature suggests, but may reflect more discrete functional abnormalities of the spinal cord. A diurnal variation in the patellar reflex was found, supporting the notion of circadian variations of spinal excitability in RLS patients. The final investigation assessed the sensory qualities (discomfort and pain) of RLS in conjunction with motor activity evoked by using the Suggested Immobilization Test. Despite rating significant levels of discomfort, the majority of the RLS patients did not exhibit PLM; possibly suggesting a disconnect between the sensory and motor components of RLS. In conclusion, it is the major finding of this thesis that inclusion of new assessment techniques for the measurement of sensory and motor features of RLS and PLM provides both new insights and potential clinical tools enhancing our understanding of these disorders.

Purpose: A key objective feature in Restless Legs Syndrome (RLS) is the presence of Periodic Limb Movements (PLMs). The gold standard for documenting PLMs is through polysomnogram (PSG), an overnight sleep study in a sleep laboratory, which is expensive and often inaccessible. This work explored the ability of a portable sleep monitor (PM) to reliably record surface EMG signals, to reliably record limb movements overnight in comparison with PSG, and examined intra- and inter-rater reliability for scoring the PM recordings. Methods: The PM’s surface EMG channel was tested against a standard EMG amplifier by recording bilateral tibialis anterior muscle activity in five healthy participants. It was also tested for recording PLMs simultaneously with polysomnography at Kingston General Hospital with 40 participants referred for screening of sleep disorders. PLMs were scored using standard criteria according to the American Academy of Sleep Medicine Scoring Manual (2007) Analyses: Comparison between the two methods of surface EMG recording was through counts of muscle activity bursts. Comparison of overnight PLM counts was through t-test, Pearson’s r, Intraclass Correlation Coefficient (ICC) and Bland-Altman plots. Intra-rater reliability and inter-rater reliability between two analysts was examined by ICC. Results: Examination of the PM surface EMG recordings demonstrated an exact match of muscle activity counts between the PM and standard EMG recordings. In the PSG study, mean difference between the two PLMI values was +4.8 ± 11.1, t (34) = 2.1, p = 0.04, which was statistically significant and demonstrated systematic over-reporting by the portable monitor. The two PLMI values were strongly correlated, giving a Pearson’s r = .87, p < 0.001. ICC for absolute agreement was 0.87, (95% CI, 0.76 – 0.93), p < 0.001. Bland-Altman analysis gave 95% limits of agreement between the two PLM Indices as +27.9 (95% CI +33.0 to 20.2) to – 19.3 (95%CI -10.6 to -23.4). Conclusions: These data suggest there may be sufficient agreement between PLMI collected by PM and polysomnography to support the use of the PM for measuring PLMs. Further testing should address test retest reliability and examine the performance of the PM in a wider patient population. / Thesis (Master, Rehabilitation Science) -- Queen's University, 2012-08-24 16:40:03.381

It is known that sleep problems affect people’s wellbeing and has great consequences for public health. Restless legs syndrome (RLS) gives uncomfortable sensations in the legs at rest, leading to an irresistible need for activity. It aggravates in evening and at night. Therefore, RLS provides poorer sleep and can affect quality of life through fatigue, family life and social activities, work, and comorbidity. It is demonstrated a dysfunction of the dopaminergic system in the brain with low levels of dopamine and / or less sensitive dopamine receptors. RLS is more common in women and the prevalence increases with age and during pregnancy. Periodic limb movements are characterized by uncontrolled stretching movements of the legs, especially the toes, ankles, knees and hips during sleep. They last between 0.5 and 5 seconds, and can cause brief awakenings leading to daytime sleepiness. The clinical significance of PLM is rather controversial and PLM is sometimes seen in healthy people with no daytime symptoms. RLS is a subjective diagnosis and translated with the help of questionnaires. PLM however, can objectively be evaluated by polysomnography. Depression is common during and after pregnancy. It is not known whether women with RLS during pregnancy have a higher risk of prenatal or postpartum depression. The aims of this thesis was to  to examine the prevalence, associated symptoms and comorbidities, in particular, vasomotor symptoms, menopause, and hormone replacement therapy (HRT) use, among women who suffer from RLS and PLMs. We also evaluated the impact of RLS and PLMs on health related quality of life (HRQoL), and if RLS before and during pregnancy increases the risk of antenatal or postpartum depressive symptoms. Three different poulations were used.  Paper 1-3 were cross-sectional and included 5000 resp. 10000 randomly selected women from the general populations of Dalarna and Uppsala County. Questionnaires, polysomnographic recordings, blodtests etc. were used. Paper 4 was a longitudinal cohort study where 1428 pregnant women in Uppsala County were followed. In summary, data included in this thesis points out that RLS and PLMs are more common in women with estrogendeficiency-related symptoms of menopause. RLS-positive women had an impaired mental HRQoL compared to RLS-negative women and more often suffered from comorbidities. Data also revealed that women with RLS before and during pregnancy are at increased risk for depression during and after pregnancy.

Universidade Federal do Cearà / ESPI e HemodiÃlise. O estudo compreendeu duas fases, transversal em uma primeira fase e prospectivamente durante os dois anos seguintes (2007-2009) para avaliar as alteraÃÃes do sono, sintomas depressivos e a mortalidade em pacientes em hemodiÃlise (HD). Dos 400 pacientes estudados 59% eram homens, idade=51,6Â15,5, em HD hà 5,9Â5,5 anos. SÃndrome de pernas inquietas (SPI) presente em 21,5% predominou em mulheres (p< 0,005); 55,8% apresentavam SPI moderada/grave (International Restless Legs Syndrome (IRLS)>15),e 44,2% sintomas leves. Pacientes com SPI apresentavam reduÃÃo da hemoglobina (p < 0,005) e tendÃncia a hipoalbuminemia (p=0,06). Mà qualidade do sono (Ãndice de Qualidade do Sono de Pittsburgh, IQSP>5) foi mais comum nos indivÃduos com SPI tinham quando comparados aos que nÃo tinham SPI (69,8% vs 56,8%, p=0,002). O risco de SAOS foi maior nos casos com SPI (todos os casos p = 0,01 e casos com SPI moderada/grave, p=0,007, respectivamente). Os casos com SPI moderada/grave associaram-se com hipertensÃo arterial (p=0,01) que permaneceu apÃs o controle para o risco de SAOS (p=0,02). Os turnos de diÃlise nÃo se relacionaram com transtornos do sono nem com sintomas depressivos e outras variÃveis clÃnicas e laboratoriais. AlteraÃÃes do sono e sintomas depressivos na HD. Foram utilizados os questionÃrios IQSP, a Escala de SonolÃncia de Epworth (ESE), o questionÃrio de Berlin, o IDB-II e o Ãndice de Comorbidades de Charlson (ICC). Os fatores de risco independentes associados com a mà qualidade do sono (56,8%) foram insuficiÃncia cardÃaca (OR=1,99, p=0,006), envelhecimento (OR=1,01, p=0,009). Os fatores de risco independentes para depressÃo (BDI-II>16, 19,3%) foram diabetes (OR=2,96, p=0,001], gÃnero feminino (OR=1,96, p=0,007), e hipoalbuminemia (OR=1,86, p=0,024). Mortalidade. O teste mÃltiplo de regressÃo mostrou que, em ambos os gÃneros, o aumento das comorbidades (p<0,005) e idade avanÃada (p<0,005) associaram-se com a mortalidade. Nas mulheres, o Ãndice de comorbidades determinou a mortalidade (p<0,005). Em homens, hipoalbuminemia (p=0,007), idade mais avanÃada(p<0,005), paratormÃnio reduzido (p=0,001) e sonolÃncia excessiva (p=0,03) diurna constituem fatores de risco para mortalidade. ConclusÃes. A prevalÃncia de depressÃo nos pacientes em HD à maior que na populaÃÃo geral. GÃnero feminino, diabetes, insuficiÃncia cardÃaca, hipoalbuminemia e idade sÃo condiÃÃes importantes associadas com depressÃo nos pacientes de HD e constituem caracterÃsticas Ãteis para identificar com prioridade os pacientes que podem se beneficiar com o tratamento da depressÃo apÃs o seu rastreamento. As mulheres e indivÃduos com anemia tÃm risco maior de SPI e SPI revelou-se importante nesse estudo pela sua associaÃÃo nas formas moderada/grave com hipertensÃo arterial, alÃm de depressÃo e mà qualidade do sono. BenefÃcios do tratamento adequado com possÃvel impacto nesses parÃmetros devem ser avaliados. SonolÃncia excessiva diurna associada com doenÃa cerebrovascular e anemia instiga a possibilidade de que a correÃÃo da anemia pode melhorar a sonolÃncia um conhecido fator de risco para DCV e mortalidade. A influÃncia de fatores distintos na mortalidade de homens e mulheres nesses pacientes merece ser explorada. . / SPI and Hemodialysis. The study comprised two phases, first phase in a cross-sectional and prospectively over the next two years (2007-2009) to evaluate sleep disturbances, depressive symptoms and mortality in patients on hemodialysis (HD). Of the 400 patients studied 59% were men, mean age = 51.6  15.5 in HD for 5.9  5.5 years. Restless Leg Syndrome (RLS) present in 21.5% predominated in women (p <0.005), 55.8% had RLS impairment (International Restless Legs Syndrome (IRLS)> 15) and 44.2% mild symptoms. RLS patients had a reduction in hemoglobin (p <0.005) and tendency to hypoalbuminemia (p = 0.06). Poor quality of sleep (Sleep Quality Index in Pittsburgh, PSQI> 5) was more common in individuals with RLS were compared to those without RLS (69.8% vs 56.8%, p = 0.002). The risk of OSA was higher in patients with RLS (all cases p = 0.01 and RLS cases with moderate / severe, p = 0.007, respectively). Cases with SPI moderate / severe were associated with hypertension (p = 0.01) that remained after controlling for risk of OSA (p = 0.02). The shifts of dialysis were not related to sleep disorders or depression symptoms and other clinical and laboratory findings. Sleep disturbances and depressive symptoms in HD. We used the PSQI questionnaire, the Epworth Sleepiness Scale (ESS), the Berlin questionnaire, the BDI-II and Charlson Comorbidity Index (CCI). The independent risk factors associated with poor sleep quality (56.8%) were heart failure (OR = 1.99, p = 0.006), age (OR = 1.01, p = 0.009). The independent risk factors for depression (BDI-II> 16, 19.3%) were diabetes (OR = 2.96, p = 0.001), female gender (OR = 1.96, p = 0.007), and hypoalbuminemia (OR = 1.86, p = 0.024). Mortality. The multiple regression test showed that in both genders, increasing age and comorbidities were associated with mortality. In women, the comorbidity rates determined mortality (p<005). In men, hypoalbuminemia ((p=0.007), older age (p<005), parathyroid hormone (p=0.001) and reduced excessive daytime sleepiness (p=0.03) were associated with mortality. Conclusion. The prevalence of depression in HD patients is higher than the general population. Female gender, diabetes, heart failure, hypoalbuminemia and age are important conditions associated with depression in HD patients and are useful features to identify priority patients who may benefit from the treatment of depression after his screening. Women and individuals with anemia are at greater risk of SPI and SPI has proved important in this study by its association forms moderate / severe arterial hypertension, and depression and poor sleep quality. Benefits of treatment and a possible impact on these parameters must be evaluated. Somnolence excessive daytime sleepiness associated with cerebrovascular disease and anemia instigates the possibility that correction of anemia may improve sleepiness a known risk factor for CVD and mortality. The influence of different factors on mortality in men and women in these patients deserves to be explored.

Introduction: The Restless Legs Syndrome (RLS) is a frequent neurological disorder with a prevalence ranging from 5 - 10%. RLS is characterized by an urge to move the lower extremities during the night, thus RLS causes sleep disturbance. It presents as both idiopathic and secondary form. Idiopathic RLS is associated with common genetic variants in MEIS1, BTBD9, PTPRD and MAP2K5/SCOR1. Recently, multiple sclerosis (MS) was identified as a common cause for secondary RLS, the prevalence of RLS in patients with MS ranges from 13.3 to 37.5%. The aim of our study was to analyse the clinical and genetic aspects of this disorder, especially in patients with multiple sclerosis. In the clinical part, we evaluated the prevalence of RLS among Czech patients with MS and we compared the extent of brain damage between patients with and without RLS using magnetic resonance imaging (MRI). In the genetic part, we further analysed the impact of known genetic variants (MEIS1, BTBD9, MAP2K5/SCOR1, PTPRD) for RLS in other European populations and in patients with MS. Methods: Clinical part: Each patient with MS underwent a semi-structured interview. A patient was considered to be affected by RLS if he/she met all four standard criteria at life- long interval. Lesion load (LL - T2), brain atrophy - T1 and brain...

Introduction: The Restless Legs Syndrome (RLS) is a frequent neurological disorder with a prevalence ranging from 5 - 10%. RLS is characterized by an urge to move the lower extremities during the night, thus RLS causes sleep disturbance. It presents as both idiopathic and secondary form. Idiopathic RLS is associated with common genetic variants in MEIS1, BTBD9, PTPRD and MAP2K5/SCOR1. Recently, multiple sclerosis (MS) was identified as a common cause for secondary RLS, the prevalence of RLS in patients with MS ranges from 13.3 to 37.5%. The aim of our study was to analyse the clinical and genetic aspects of this disorder, especially in patients with multiple sclerosis. In the clinical part, we evaluated the prevalence of RLS among Czech patients with MS and we compared the extent of brain damage between patients with and without RLS using magnetic resonance imaging (MRI). In the genetic part, we further analysed the impact of known genetic variants (MEIS1, BTBD9, MAP2K5/SCOR1, PTPRD) for RLS in other European populations and in patients with MS. Methods: Clinical part: Each patient with MS underwent a semi-structured interview. A patient was considered to be affected by RLS if he/she met all four standard criteria at life- long interval. Lesion load (LL - T2), brain atrophy - T1 and brain...

Bakgrund: Restless legs syndrome (RLS) är en vanligt förekommande, underdiagnostiserad neurologisk sjukdom som orsakar lidande hos individen. Distriktssköterskor i telefonrådgivning utgör ofta första patiententkontakten med primärvården. Studier gällande distriktssköterskors erfarenhet av individer med RLS-associerade symtom och behandlingsbehov saknas varvid stort behov sågs av studien för ökad identifiering av dessa individer.  Syfte: Syftet var att beskriva hur distriktssköterskor erfar symtombild och behandlingsbehov hos individer med RLS-associerade besvär vid telefonrådgivning inom primärvården med fokus på möjligheter och hinder utifrån 4-habits kommunikationsmodell.  Metod: En kvalitativ intervjustudie med innehållsanalys genomfördes med 16 sjuksköterskor och distriktssköterskor yrkesverksamma i sex svenska regioner inom primärvården. En deduktiv ansats utifrån 4-habits kommunikationsmodell genomfördes.  Resultat: Resultatet presenteras utifrån kommunikationsmodellens delar; Investera i början innefattar; Patientmötets påverkansfaktorer, Försöka förstå patientens RLS-associerade symtom och Erfarenhet av RLS-associerade symtom. Ta reda på patientens perspektiv; Patientens symtombeskrivning som utgångspunkt och Symtomens inverkan på patientens livssituation. Visa empati; Förhålla sig till patientens situation och Tillitens betydelse i patientmötet. Investera i slutet; Triagering av patienter med RLS-associerade symtom, Egenvårdsrådgivning vid RLS-associerade symtom och Samsyn i slutet av samtalet. Slutsats: 4-habits kommunikationsmodell utgjorde struktur i distriktssköterskornas telefonrådgivningsarbete. Distriktssköterskorna lyssnade och ville förstå patienter med RLS-associerade symtom men begränsad kunskap avseende symtom och behandlingsbehov samt tidspress var hindrande faktorer. / Background: Restless legs syndrome (RLS) is a common, underdiagnosed neurological disease that causes great suffering. Primary healthcare nurses in telephone counseling are often patient's first contact with primary care. Studies regarding primary healthcare nurses experiences of individuals with RLS-associated symptoms and treatment needs are lacking. This study could contribute to increased awareness.  Purpose: The purpose was to describe how primary healthcare nurses experience symptoms and treatment needs of individuals with RLS-associated symptoms during telephone counseling in primary care with focus on opportunities and obstacles based on the 4-habits model. Method: A qualitative interview study with content analysis was conducted with 16 nurses working in six Swedish regions within primary healthcare. A deductive approach based on the 4-habits communication model was carried out. Results: Opportunities and obstacles in the primary healthcare nurses telephone counseling work, were identified based on the different parts of the 4-habits model; Invest in the beginning, elicit the patient's perspective, demonstrate empathy and invest in the end.  Conclusion: The 4-habits model contribute to primary healthcare nurses telephone counseling. The nurses listened and wanted to understand patients with RLS-associated symptoms, but limited knowledge regarding symptoms and treatment needs as well as time pressure were hindering factors.