Living with chronic illness scale in Parkinson's disease: Longitudinal metric properties and meaningful change.

AIM: To analyze the responsiveness and interpretability of the Living with Chronic Illness Scale in patients with Parkinson's disease (LW-CI-PD). METHODS: Longitudinal, international study, with a convenience sample of 153 PD Spanish and Latin-American patients assessed at baseline and one year later. The LW-CI-PD and other clinical measures were applied. For responsiveness, Wilcoxon-Mann-Whitney test of differences, correlation of change between rating scales, standard error of difference, relative change, Cohen's effect size and standardized response mean of LW-CI-PD were computed. The minimally clinical important difference was calculated using anchor- (applying the Patient Global Impression of Severity) and distribution-based methods. A triangulation of interpretability indexes was performed to determine the range of the minimally clinical important difference values. RESULTS: The LW-CI-PD scored 65.7 (11.7, range: 33-101) at baseline, and 68.6 (10.3, range: 33-102) one year later (p < 0.001). Change in LW-CI-PD correlated -0.26 with change in psychosocial status, 0.18 with change in motor function and -0.15 with change in social support. Responsiveness statistics were: relative change = 4.5%; effect size = 0.25; standardized response mean = 0.46. Using PGI-S as anchor, 29 patients worsened, and the value of minimally clinical important difference for worsening in LW-CI-PD total score was 4.7. Minimally clinical important difference values using distribution-based methods were between 4.5 (1 standard error of measurement) and 10.4 (10% of total score), with a mean of 6.9. CONCLUSIONS: Our study suggest the LW-CI-PD is responsive to changes over time. The use of different methods for calculating the minimally clinical important difference allows to determine a range of the real change for the LW-CI-PD.

Cannabis in patients with Parkinson's disease in Argentina. A cross sectional study.

We made an observational cross-sectional study to evaluate the prevalence of cannabis use, characteristics and results perceived by a group of PD patients. Semi-structured questionnaire was applied to patients. Until obtaining more information we suggest to incorporate into regular medical practice the question about the use of cannabis.

The Parkinson's Disease Sleep Scale-2 (PDSS-2): Validation of the Spanish Version and Its Relationship With a Roommate-Based Version.

BACKGROUND: Because of the prevalence and impact of sleep disorders in Parkinson's disease (PD), valid instruments for their evaluation and monitoring are necessary. However, some nocturnal sleep disorders may go unnoticed by patients themselves. OBJECTIVES: To validate a pan-Spanish version of the Parkinson's Disease Sleep Scale Version 2 (PDSS-2) and to test the relationships between the PDSS-2 and a PDSS-2 roommate version. METHODS: PD patients (n = 399) from seven Spanish-speaking countries were included. In addition to the tested PDSS-2 scales, valid measures for sleep disorders and both motor and nonmotor manifestations were applied. Acceptability, dimensionality, reliability, precision, and construct validity were explored, as well as discrepancies and agreement between the PDSS-2 and the roommate version. RESULTS: PDSS-2 showed negligible floor and ceiling effects. Four factors (57% of the variance) were identified. Reliability parameters were satisfactory: alpha = 0.84; item homogeneity coefficient = 0.27; corrected item total correlation = 0.28 to 0.61; and test-retest reliability (average kappa = 0.70; intraclass correlation coefficient [ICC] = 0.83). The standard error of measurement was 5.84, and correlations with other scales assessing nocturnal sleep were high (rS = 0.62-0.56). In comparison to the patient-based total score, the by proxy total score showed no significant difference, high correlation (rS = 0.70), and acceptable agreement (ICC = 0.69), but there were discrepancies in two or more points in 18% of item scores. CONCLUSIONS: The Spanish version of the PDSS-2 has shown satisfactory clinimetric attributes. Acceptability and precision data are presented for the first time. The PDSS-2 roommate version could be useful to complement the patient-based evaluation, but additional studies are needed.

Everything you always wanted to know about sex and Neurology: neurological disability and sexuality.

OBJECTIVE: Chronic neurological disorders generate disabilities affecting multiple aspects of life, including sexuality. OBJECTIVE: To describe the presence of sexual dysfunction and comorbidities in a population with chronic neurological disorders. To analyze the relationship between disability and sexual dysfunction. METHODS: A cross-sectional case-control study was carried out. Patients with amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Parkinson's disease (PD), and stroke of at least one year since the onset of symptoms were included, and compared with controls with no neurological disease, matched by age and sex. RESULTS: We included 71 participants: 29 controls, with a mean age of 49.4 years, and 42 patients with a mean age of 53.8 years. Sexual dysfunction was present in 22.5% of the controls and 77.5% of the patients. A statistically significant relationship between sexual dysfunction and disability was found in the logistic regression analysis (OR = 20.38, 95%CI: 2.5 -165.86). CONCLUSIONS: Disability proved to be the main variable related to the presence of sexual dysfunction. Patients with ALS had the worst rates of sexual dysfunction. Patients with MS were similar to the control group. As for the PD group, no patient had normal sexuality. Finally, in stroke patients, the presence of comorbidities and their treatment may have negatively influenced sexuality. These findings showed that patients with chronic neurological diseases have sexual dysfunction and underscore the need for neurologists to know and address this problem.

Everything you always wanted to know about sex and Neurology: neurological disability and sexuality / Todo lo que siempre quiso saber sobre sexo y Neurologia pero nunca se atrevió a preguntar: estudio sobre discapacidad neurologica y sexualidad

ABSTRACT Chronic neurological disorders generate disabilities affecting multiple aspects of life, including sexuality. Objective To describe the presence of sexual dysfunction and comorbidities in a population with chronic neurological disorders. To analyze the relationship between disability and sexual dysfunction. Methods A cross-sectional case-control study was carried out. Patients with amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Parkinson's disease (PD), and stroke of at least one year since the onset of symptoms were included, and compared with controls with no neurological disease, matched by age and sex. Results We included 71 participants: 29 controls, with a mean age of 49.4 years, and 42 patients with a mean age of 53.8 years. Sexual dysfunction was present in 22.5% of the controls and 77.5% of the patients. A statistically significant relationship between sexual dysfunction and disability was found in the logistic regression analysis (OR = 20.38, 95%CI: 2.5 -165.86). Conclusions Disability proved to be the main variable related to the presence of sexual dysfunction. Patients with ALS had the worst rates of sexual dysfunction. Patients with MS were similar to the control group. As for the PD group, no patient had normal sexuality. Finally, in stroke patients, the presence of comorbidities and their treatment may have negatively influenced sexuality. These findings showed that patients with chronic neurological diseases have sexual dysfunction and underscore the need for neurologists to know and address this problem.

RESUMO Las enfermedades neurológicas crónicas generan discapacidad afectando múltiples aspectos de la vida, incluida la sexual. Objetivo Describir en una población con enfermedades neurológicas crónicas la presencia de disfunción sexual y posibles comorbilidades acompañantes. Analizar la relación entre discapacidad y disfunción sexual. Métodos Se realizó un estudio transversal de tipo casos y controles. Se incluyeron pacientes con Esclerosis Lateral Amiotrófica (ELA), Esclerosis Múltiple (EM), enfermedad de Parkinson (EP) y secuelados por enfermedad cerebrovascular (sACV) de al menos un año de evolución, controlando con sujetos sin enfermedad neurológica pareados por edad y sexo. Resultados Se incluyeron 71 sujetos: 29 controles, con una edad media 49,4 años y 42 casos con una edad media de 53,8 años. Presentaron disfunción sexual el 22,5% de los controles y el 77,5% de los casos. En el análisis por regresión logística se encontró una relación estadísticamente significativamente entre disfunción sexual y discapacidad. (OR = 20.38, IC95%: 2.5-165.86). Conclusiones La discapacidad demostró ser la principal variable relacionada con la presencia de disfunción sexual. Los enfermos con ELA fueron los que peores índices de disfunción sexual presentaron. Los pacientes con EM se comportaron de forma similar al grupo control. En cuanto al grupo de EP todos los pacientes tuvieron algún trastorno en su sexualidad. Por último, en sACV la presencia de comorbilidades y su tratamiento podrían influir negativamente en la sexualidad. Estos hallazgos evidencian que la disfunción sexual está presente en los pacientes con enfermedades neurológicas crónicas y confirma la necesidad de conocer este problema por parte de los neurólogos.

Relationship between the MDS-UPDRS and Quality of Life: A large multicenter study of 3206 patients.

BACKGROUND: The relationship between Health-Related Quality of Life (HRQoL) and MDS-UPDRS has not been fully studied so far. The aim of this study was to evaluate the relationship between all MDS-UPDRS components and HRQoL in a representative international cohort of PD patients. METHODS: We collected demographic and disease-related data as well as MDS-UPDRS and PDQ8 scales. Data were analyzed using correlations between PDQ8 and all MDS-UPDRS items, subsequently two hierarchical multiple regressions were performed, first between the scores of the MDS-UPDRS Parts and PDQ8 and second between individual items from those Parts demonstrating significant relationship to PDQ8 scores in the first regression. LASSO regression analyses were performed to evaluate the relationship between PDQ8 and all individual MDS-UPDRS items. RESULTS: A total of 3206 PD patients were included in the study. In the first regression analysis, PDQ8 was significantly related to MDS-UPDRS parts I and II, but not to III and IV. In the second regression model, significant contributions to PDQ8 were found for Part I items Fatigue, Pain, Depressed mood, Apathy; and Part II items Dressing, Doing hobbies, Freezing, Speech and Tremor. In the LASSO analysis, six Part I, seven Part II, three Part III and one Part IV items contributed to PDQ8 scores. The five items most significantly related to the model were Depressed mood, Dressing, Apathy, Pain and Fatigue. CONCLUSIONS: This is so far the largest study related to HRQoL issues in PD. Restrictions in activities of daily living and non-motor symptoms significantly contribute to HRQoL in PD.

Self-Assessment of Disability in Parkinson's Disease: The MDS-UPDRS Part II Versus Clinician-Based Ratings.

BACKGROUND: Parkinson's disease (PD) is characterized by motor and nonmotor symptoms that progress with time, causing disability. The performance of a disease-specific, self-applied tool for assessing disability, the MDS-UPDRS Part II, is tested against generic and rater-based rating scales. METHODS: An international, cross-sectional, observational study was performed. Patients were assessed with the Hoehn and Yahr (HY) and five disability measures: MDS-UPDRS Part II, Schwab and England Scale (S&E), Clinical Impression of Severity Index-PD (CISI-PD) Disability item, Barthel Index (BI), and Rapid Assessment of Disability Scale (RADS). Data analysis included correlation coefficients, Mann-Whitney and Kruskal-Wallis tests, and intraclass-correlation coefficient for concordance. RESULTS: The sample was composed of 451 patients, 55.2% men, with a mean age of 65.06 years (SD = 10.71). Disability rating scales correlated from |0.75| (CISI-PD Disability with BI) to 0.87 (MDS-UPDRS Part II with RADS). In general, MDS-UPDRS Part II showed high correlation coefficients with clinical variables and satisfactory concordance with the rest of disability measures, with ICC ranging from 0.83 (with BI) to 0.93 (with RADS). All disability rating scales showed statistical significant differences in the sample grouped by sex, age, disease duration, and severity level. CONCLUSIONS: The MDS-UPDRS Part II showed an appropriate performance to assess disability in PD, even better than some rater-based, generic or specific, scales applied in this study.

Differences in MDS-UPDRS Scores Based on Hoehn and Yahr Stage and Disease Duration.

BACKGROUND: The Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) is a newly developed tool to assess Parkinson's disease (PD). Changes in scores on the scale over the course of PD, including increasing disease duration and Hoehn and Yahr (HY) stages, have not been described. The objectives of this study were to analyze MDS-UPDRS scores on Parts I through IV and their differences based on HY stage and disease duration in a large cohort of patients with PD. METHODS: For this cross-sectional study, demographic data and MDS-UPDRS scores were collected, including HY stage. Subscores on MDS-UPDRS Parts I through IV were analyzed using 1-way analyses of variance for each HY stage and in 5-year increments of disease duration. Part III (motor assessment) scores were analyzed separately for on and off states. RESULTS: The mean age of the 3206 patients was 65.8 ± 10.6 years, 53.3% were men, the mean disease duration was 11.5 ± 4.6 years, and the median HY stage was 2 (range, 0-5); 2156 patients were examined in an on state and 987 were examined in an off state. Scores for all MDS-UPDRS parts increased significantly through HY stages 1 through 5, with an average increase of 3.8, 7.7, 14.6, and 2.0 points consecutively for parts I through IV, respectively. For the 5-year increments of disease duration, MDS-UPDRS subscores increased by an average of 1.6, 3.3, 4.2, and 1.4 points consecutively for parts I through IV, respectively. This increase was significant only during the first 15 years of disease for all 4 parts, including part III scores evaluated in both on and off states. CONCLUSIONS: MDS-UPDRS scores for all 4 parts increase significantly with every HY stage and also with 5-year increments of disease duration in the first 15 years of the disease.

Satisfaction with Life Scale (SLS-6): First validation study in Parkinson's disease population.

INTRODUCTION: To explore the psychometric attributes of a new Satisfaction with Life Scale (SLS-6) in a wide Spanish-speaking population with Parkinson's disease (PD). METHODS: This was an international, cross-sectional study. Several rater-based and patient-reported outcomes measures for evaluation of PD (e.g., Scales for Outcomes in Parkinson's Disease-Motor) and other constructs (e.g., Duke-UNC Functional Social Support Questionnaire, Scale for Living with Chronic Illness) were applied together with the SLS-6. Acceptability, scaling assumptions, reliability, precision, and construct validity were tested. RESULTS: The study included 324 patients from five countries, with age (mean ± standard deviation) 66.67 ± 10.68 years. None of the SLS-6 items had missing values and all acceptability parameters fulfilled the standard criteria. Scaling assumptions allowed the calculation of a summary index from items 2 to 6, complementary to the global evaluation (item 1). For these five items, Cronbach's alpha was 0.85; the corrected item-total correlation 0.53-0.73; inter-item correlation, 0.45-0.70, with an item homogeneity index of 0.55. The standard error of measurement, based on Cronbach's alpha for a single observation, was 3.48. SLS-6 correlations were moderate to strong (rs ≥ 0.35) with the patient-reported outcomes and weak to moderate with the rater-based assessments used in the study. The SLS-6 total score was significantly different according to PD severity levels established according to Hoehn and Yahr staging, Clinical Impression of Severity Index, and Patient-Based Global Impression of Severity scale. CONCLUSION: The results suggest that SLS-6 is an easy, feasible, acceptable, consistent, precise and valid measure to evaluate satisfaction with life in PD patients.

Analysis of four scales for global severity evaluation in Parkinson's disease.

Global evaluations of Parkinson's disease (PD) severity are available, but their concordance and accuracy have not been previously tested. The present international, cross-sectional study was aimed at determining the agreement level among four global scales for PD (Hoehn and Yahr, HY; Clinical Global Impression of Severity, CGIS; Clinical Impression of Severity Index, CISI-PD; and Patient Global Impression of Severity, PGIS) and identifying which of them better correlates with itemized PD assessments. Assessments included additional scales for evaluation of the movement impairment, disability, affective disorders, and quality of life. Spearman correlation coefficients, weighted and generalized kappa, and Kendall's concordance coefficient were used. Four hundred thirty three PD patients, 66% in HY stages 2 or 3, mean disease duration 8.8 years, were analyzed. Correlation between the global scales ranged from 0.60 (HY with PGIS) to 0.91 (CGIS with CISI-PD). Kendall's coefficient of concordance resulted 0.76 (P<0.0001). HY and CISI-PD showed the highest association with age, disease duration, and levodopa-equivalent daily dose, and CISI-PD with measures of PD manifestations, disability, and quality of life. PGIS and CISI-PD correlated similarly with anxiety and depression scores. The lowest agreement in classifying patients as mild, moderate, or severe was observed between PGIS and HY or CISI-PD (58%) and the highest between CGIS and CISI-PD (84.3%). The four PD global severity scales agree moderately to strongly among them; clinician-based ratings estimate PD severity, as established by other measures, better than PGIS; and the CISI-PD showed the highest association with measures of impairment, disability, and quality of life.

Living with chronic illness scale: international validation of a new self-report measure in Parkinson's disease.

Understanding how a person lives with a chronic illness, such as Parkinson's disease (PD), is necessary to provide individualized care and professionals role in person-centered care at clinical and community levels is paramount. The present study was aimed to analyze the psychometric properties of the Living with Chronic Illness-PD Scale (EC-PC) in a wide Spanish-speaking population with PD. International cross-sectional study with retest was carried out with 324 patients from four Latin American countries and Spain. Feasibility, acceptability, scaling assumptions, reliability, precision, and construct validity were tested. The study included 324 patients, with age (mean±s.d.) 66.67±10.68 years. None of the EC-PC items had missing values and all acceptability parameters fulfilled the standard criteria. Around two-third of the items (61.54%) met scaling assumptions standards. Concerning internal consistency, Cronbach's alpha values were 0.68-0.88; item-total correlation was >0.30, except for two items; item homogeneity index was >0.30, and inter-item correlation values 0.14-0.76. Intraclass correlation coefficient for EC-PC stability was 0.76 and standard error of measurement (s.e.m.) for precision was 8.60 (for a EC-PC s.d.=18.57). EC-PC presented strong correlation with social support (rS=0.61) and moderate correlation with life satisfaction (rS=0.46). Weak and negligible correlations were found with the other scales. Internal validity correlations ranged from 0.46 to 0.78. EC-PC total scores were significantly different for each severity level based on Hoehn and Yahr and Clinical Impression of Severity Index, but not for Patient Global Impression of Severity. The EC-PC has satisfactory acceptability, reliability, precision, and validity to evaluate living with PD.

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognitionand molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of informationregarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective,observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medicalcentre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalizedclinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohortof 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patientswhose main complaint was the presence of progressive ataxia, to whom we applied a systematic moleculardiagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if weonly considered those patients where a molecular test could be performed, the success rate rises to 45%. Weobtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxicpatients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogeneticclinic could be successfully diagnosed.

Parkinson's disease severity levels and MDS-Unified Parkinson's Disease Rating Scale.

BACKGROUND: Severity of PD is usually assessed by means of the motor and disability-based Hoehn and Yahr staging (HY), or clinician and patient global perceptions. Scores of more detailed assessments, as the MDS-UPDRS, have not been translated to a grading that allows assignment of score sections to severity levels. The objective of the present study is to determine cut-off points for PD severity levels based on the MDS-UPDRS. METHODS: International, observational study. Applied assessments were: HY, MDS-UPDRS, Clinical Impression for Severity Index, and Clinical and Patient Global Impression of Severity. The coincidence in severity level (mild, moderate, severe) of at least two clinical classifications plus the patient's gradation was considered "the criterion of severity". Cut-off values for each MDS-UPDRS subscale was determined by triangulation of: 1) percentile 90 of the subscale total score; 2) receiver operating characteristic (ROC) analysis; and 3) ordinal logistic regression (OLR) model. RESULTS: Sample was composed of 452 consecutive PD patients without dementia, 55.3% males, age 65.1 ± 10.7 years and PD duration 8.7 ± 6.3 years. All HY stages were represented. The "criterion", classified 275 patients (60.8% of the sample) as: mild PD, 149 (54.2%); moderate, 82 (29.8%); and severe, 44 (16%). The following MDS-UPDRS cut-off points between mild/moderate and moderate/severe levels were found: Part 1: 10/11 and 21/22; Part 2: 12/13 and 29/30; Part 3: 32/33 and 58/59; and Part 4: 4/5 and 12/13. CONCLUSION: Cut-off points to classify PD patients as mild, moderate, or severe on the basis of their MDS-UPDRS scores are proposed.

Hemimasticatory spasm: report of a case and review of the literature†.

BACKGROUND: Hemimasticatory spasm is a very rare movement disorder characterized by unilateral, involuntary, paroxysmal contractions of the jaw-closing muscles, causing clinically brief twitches and/or spasms. CASE REPORT: A 62-year-old female consulted us with a 30-year history of unusual involuntary twitches in the preauricular region and spasms that hampered jaw opening. During these spasms, she could not open her mouth. On physical examination, we also observed hypertrophy of the masseter and temporalis muscles, which can be features of hemimasticatory spasm. She was treated with botulinum toxin type A, with excellent response. Here, we present her case and review the literature. DISCUSSION: Hemimasticatory spasm is a rare movement disorder. Given the excellent response to botulinum toxin type A treatment, it should be considered within the spectrum of facial spasms.

[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia]. / Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria.

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.

Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria / The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia

La ataxia espinocerebelosa tipo 3 o enfermedad de Machado-Joseph (SCA-3/EMJ) es la forma más frecuente de ataxia espinocerebelosa autosómica dominante. Se caracteriza por una marcada variabilidad fenotípica, pudiendo causar formas no cerebelosas de presentación. En base a algunos casos comunicados, se ha propuesto una forma de presentación clínica similar a la de una paraparesia espástica hereditaria, con la presencia de signos de disfunción piramidal predominantes como la manifestación clínica inicial. Presentamos dos nuevos casos de SCA-3/EMJ con un cuadro clínico inicial sugerente de paraparesia espástica hereditaria y una revisión de los casos clínicos similares previamente informados. Nuestros hallazgos apoyan la propuesta de un subtipo de SCA-3/EMJ caracterizado por la presencia de marcada disfunción piramidal como manifestación inicial, simulando un cuadro clínico de paraparesia espástica hereditaria.

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.