An interactive voice response diary for patients with non-dystrophic myotonia.
Ontology highlight
ABSTRACT:
SUBMITTER: Statland JM
PROVIDER: S-EPMC3233757 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Publications
An interactive voice response diary for patients with non-dystrophic myotonia.
Statland Jeffrey M JM Wang Yunxia Y Richesson Rachel R Bundy Brian B Herbelin Laura L Gomes Joe J Trivedi Jaya J Venance Shannon S Amato Anthony A Hanna Michael M Griggs Robert R Barohn Richard J RJ
Muscle & nerve 20110701 1
<h4>Introduction</h4>Non-dystrophic myotonia (NDM) is caused by mutations in muscle chloride and sodium channels. Currently, there is no standardized instrument for documenting symptom frequency and severity in NDM.<h4>Methods</h4>Subjects used an automated, interactive, telephone-based voice response diary (IVR) to record frequency and severity of stiffness, weakness, pain, and tiredness once a week for 8 weeks, after their baseline visits.<h4>Results</h4>We describe the IVR and report data on ...[more]
Similar Datasets
Project description:Introduction/aimsConsistency of differences between non-dystrophic myotonias over time measured by standardized clinical/patient-reported outcomes is lacking. Evaluation of longitudinal data could establish clinically relevant endpoints for future research.MethodsData from prospective observational study of 95 definite/clinically suspected non-dystrophic myotonia participants (six sites in the United States, United Kingdom, and Canada) between March 2006 and March 2009 were analyzed. Outcomes included: standardized symptom interview/exam, Short Form-36, Individualized Neuromuscular Quality of Life (INQoL), electrophysiological short/prolonged exercise tests, manual muscle testing, quantitative grip strength, modified get-up-and-go test. Patterns were assigned as described by Fournier et al. Comparisons were restricted to confirmed sodium channelopathies (SCN4A, baseline, year 1, year 2: n = 34, 19, 13), chloride channelopathies (CLCN1, n = 32, 26, 18), and myotonic dystrophy type 2 (DM2, n = 9, 6, 2).ResultsMuscle stiffness was the most frequent symptom over time (54.7%-64.7%). Eyelid myotonia and paradoxical handgrip/eyelid myotonia were more frequent in SCN4A. Grip strength and combined manual muscle testing remained stable. Modified get-up-and-go showed less warm up in SCN4A but remained stable. Median post short exercise decrement was stable, except for SCN4A (baseline to year 2 decrement difference 16.6% [Q1, Q3: 9.5, 39.2]). Fournier patterns type 2 (CLCN1) and 1 (SCN4A) were most specific; 40.4% of participants had a change in pattern over time. INQoL showed higher impact for SCN4A and DM2 with scores stable over time.DiscussionSymptom frequency and clinical outcome assessments were stable with defined variability in myotonia measures supporting trial designs like cross over or combined n-of-1 as important for rare disorders.
| S-EPMC9308727 | biostudies-literature
Project description:Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Few prospective studies have evaluated the sensitivity of symptoms and signs of myotonia in a large cohort of patients. We performed a prospective observational study of 95 participants with definite or clinically suspected non-dystrophic myotonia recruited from six sites in the USA, UK and Canada between March 2006 and March 2009. We used the common infrastructure and data elements provided by the NIH-funded Rare Disease Clinical Research Network. Outcomes included a standardized symptom interview and physical exam; the Short Form-36 and the Individualized Neuromuscular Quality of Life instruments; electrophysiological short and prolonged exercise tests; manual muscle testing; and a modified get-up-and-go test. Thirty-two participants had chloride channel mutations, 34 had sodium channel mutations, nine had myotonic dystrophy type 2, one had myotonic dystrophy type 1, and 17 had no identified mutation. Phenotype comparisons were restricted to those with sodium channel mutations, chloride channel mutations, and myotonic dystrophy type 2. Muscle stiffness was the most prominent symptom overall, seen in 66.7% to 100% of participants. In comparison with chloride channel mutations, participants with sodium mutations had an earlier age of onset of stiffness (5 years versus 10 years), frequent eye closure myotonia (73.5% versus 25%), more impairment on the Individualized Neuromuscular Quality of Life summary score (20.0 versus 9.44), and paradoxical eye closure myotonia (50% versus 0%). Handgrip myotonia was seen in three-quarters of participants, with warm up of myotonia in 75% chloride channel mutations, but also 35.3% of sodium channel mutations. The short exercise test showed ?10% decrement in the compound muscle action potential amplitude in 59.3% of chloride channel participants compared with 27.6% of sodium channel participants, which increased post-cooling to 57.6% in sodium channel mutations. In evaluation of patients with clinical and electrical myotonia, despite considerable phenotypic overlap, the presence of eye closure myotonia, paradoxical myotonia, and an increase in short exercise test sensitivity post-cooling suggest sodium channel mutations. Outcomes designed to measure stiffness or the electrophysiological correlates of stiffness may prove useful for future clinical trials, regardless of underlying mutation, and include patient-reported stiffness, bedside manoeuvres to evaluate myotonia, muscle specific quality of life instruments and short exercise testing.
| S-EPMC3692030 | biostudies-literature
Project description:IntroductionAdverse events (AEs) are poor outcomes caused by medical care. They occur in 20% of medical patients following hospital discharge. We designed an interactive voice response system (IVRS) with the intent of identifying patients who might be experiencing an AE following discharge or were at risk of developing one.ObjectivesWe determined the proportion of post-discharge patients requiring an intervention after identifying potential problems using the IVRS, the relationship between IVRS responses and AE occurrence, and patients' opinions of the IVRS call.MethodsWe studied patients discharged from the general medical service of an academic hospital. The IVRS called patients 2 days post-discharge and asked three questions to determine the need for nurse follow-up. We contacted patients 30 days later to elicit AE status and perceptions of the IVRS.ResultsOur cohort consisted of 270 elderly patients [median 64 years (IQR 50-76)] with multiple co-morbidities. Responses to the IVRS identified 57 patients (21%, 95% CI 17%-27%) for follow-up. When contacted by a nurse, 25 patients (9%, 95% CI 6%-13%) actually required an intervention. At 30-day follow-up, AEs occurred in 33 patients (12%, 95% CI 8%-17%). Only three AEs (9%) were identified by the IVRS; the remainder occurred before or after the IVRS call. Patients remembering the IVRS call found it easy to use (97%), and a minority would prefer a person to call (8%).ConclusionAn IVRS-based method of monitoring was acceptable to patients and identified a significant proportion requiring changes in management. However, the method identified only a minority of AEs. To have a significant improvement in care, this method will need to be combined with other interventions.
| S-EPMC2659152 | biostudies-literature
Project description:BackgroundNon-dystrophic myotonias (NDMs) comprise muscle chloride and sodium channelopathies due to genetic defects of the CLCN1- and SCN4A-channels. No licensed antimyotonic treatment has been available until approval of mexiletine (NaMuscla®) for adult patients by the EMA in December 2018. This Delphi panel aimed to understand how outcomes of the pivotal phase III Mexiletine study (MYOMEX) translate to real world practice and investigate health resource use, quality of life and the natural history of NDM to support economic modelling and facilitate patient access.MethodsNine clinical experts in treating NDM took part in a two-round Delphi panel. Their knowledge of NDM and previous use of mexiletine as an off-label treatment prior to NaMuscla's approval ensured they could provide both qualitative context and quantitative estimates to support economic modelling comparing mexiletine (NaMuscla) to best supportive care. Consensus in four key areas was sought: healthcare resource utilization (HRU), treatment with mexiletine (NaMuscla), patient quality of life (QoL), and the natural history of disease. Concept questions were also asked, considering perceptions on the feasibility of mapping the validated Individualized Neuromuscular Quality of Life (INQoL) instrument to the generic EQ-5D™, and the potential impact on caregiver QoL.ResultsConsensus was achieved for key questions including the average long-term dosage of mexiletine (NaMuscla) in practice, the criteria for eligibility of myotonia treatment, the clinical importance of QoL outcomes in MYOMEX, the higher proportion of patients with increased QoL, and the reduction in the need for mental health resources for patients receiving mexiletine (NaMuscla). While consensus was not achieved for other questions, the results demonstrated that most experts felt mexiletine (NaMuscla) reduced the need for HRU and was expected to improve QoL. The QoL mapping exercise suggested that it is feasible to map domains of INQoL to EQ-5D. Points of interest for future research were identified, including that mexiletine (NaMuscla) may slow the annual decrease in QoL of patients over their lifetime, and a significant negative impact on QoL for some caregivers.ConclusionsThis project successfully provided data from an informed group of clinical experts, complementing the currently available clinical trial data for mexiletine (NaMuscla) to support patient access decisions.
| S-EPMC8633892 | biostudies-literature
Project description:BACKGROUND: Monitoring oral anticoagulants is logistically challenging for both patients and medical staff. We evaluated the effect of adding an interactive voice response system to computerized decision support for oral anticoagulant management. METHODS: We developed an interactive voice response system to communicate to patients the results of international normalized ratio testing and their dosage schedules for anticoagulation therapy. The system also reminded patients of upcoming and missed appointments for blood tests. We recruited patients whose anticoagulation control was stable after at least 3 months of warfarin therapy. We prospectively examined clinical data and outcomes for these patients for an intervention period of at least 3 months. We also collected retrospective data for each patient for the 3 months before study enrolment. RESULTS: We recruited 226 patients between Nov. 23, 2006, and Aug. 1, 2007. The mean duration of the intervention period (prospective data collection) was 4.2 months. Anticoagulation control was similar for the periods during and preceding the intervention (mean time within the therapeutic range 80.3%, 95% confidence interval [CI] 77.5% to 83.1% v. 79.9%, 95% CI 77.3% to 82.6%). The interactive voice response system delivered 1211 (77.8%) of 1557 scheduled dosage messages, with no further input required from clinic staff. The most common reason for clinic staff having to deliver the remaining messages (accounting for 143 [9.2%] of all messages) was an international normalized ratio that was excessively high or low, (i.e., 0.5 or more outside the therapeutic range). When given the option, 76.6% of patients (164/214) chose to continue with the interactive voice response system for management of their anticoagulation after the study was completed. The system reduced staff workload for monitoring anticoagulation therapy by 48 min/wk, a 33% reduction from the baseline of 2.4 hours. INTERPRETATION: Interactive voice response systems have a potential role in improving the monitoring of patients taking oral anticoagulants. Further work is required to determine the generalizability and cost-effectiveness of these results.
| S-EPMC2670905 | biostudies-other
Project description:Few methods estimate the prevalence of child maltreatment in the general population due to concerns about socially desirable responding and mandated reporting laws. Innovative methods, such as interactive voice response (IVR), may obtain better estimates that address these concerns. This study examined the utility of interactive voice response (IVR) for child maltreatment behaviors by assessing differences between respondents who completed and did not complete a survey using IVR technology. A mixed-mode telephone survey was conducted in English and Spanish in 50 cities in California during 2009. Caregivers (n=3,023) self-reported abusive and neglectful parenting behaviors for a focal child under the age of 13 using computer-assisted telephone interviewing and IVR. We used hierarchical generalized linear models to compare survey completion by caregivers nested within cities for the full sample and age-specific ranges. For demographic characteristics, caregivers born in the United States were more likely to complete the survey when controlling for covariates. Parenting stress, provision of physical needs, and provision of supervisory needs were not associated with survey completion in the full multivariate model. For caregivers of children 0-4 years (n=838), those reporting they could often or always hear their child from another room had a higher likelihood of survey completion. The findings suggest IVR could prove to be useful for future surveys that aim to estimate abusive and/or neglectful parenting behaviors given the limited bias observed for demographic characteristics and problematic parenting behaviors. Further research should expand upon its utility to advance estimation rates.
| S-EPMC4225177 | biostudies-literature
Project description:BackgroundNon-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs. We describe various pathological findings mimicking those of myotonic dystrophy (DM) in biopsied muscle specimens from a patient with NDMs with a long disease duration.Case presentationA 66-year-old Japanease man presented eye closure myotonia, percussion myotonia and grip myotonia together with the warm-up phenomenon and cold aggravation from early childhood. On genetic analysis, a heterozygous mutation of the SCN4A gene (c.2065 C?>?T, p.L689F), with no mutation of the CLCN1, DMPK, or ZNF9/CNBP gene, was detected. He was diagnosed as having NDMs. A biopsy of the biceps brachii muscle showed increasing fiber size variation, internal nuclei, chained nuclei, necrotic fibers, fiber splitting, endomysial fibrosis, pyknotic nuclear clumps and disorganized intermyofibrillar networks. Sarcoplasmic masses, tubular aggregates and ragged-red fibers were absent.ConclusionIt is noteworthy that the present study revealed various pathological findings resembling those seen in DM, although the pathology is usually normal or mild in NDMs. The pathological similarities may be due to muscular modification with long-standing myotonia or excessive muscle contraction based on abnormal channel activity.
| S-EPMC6560775 | biostudies-literature
Project description:BackgroundChildren take 1 medication each week on average at home. Better communication between parents and providers could support safer home medication use and prevent misuse of pediatric medications, such as intentional underdosing or overdosing. Our primary objective was to assess the impact of an interactive voice response system on parent-provider communication about medications.MethodsParents of children 4 months to 11 years of age with upcoming well child visits were invited to call our interactive voice response system, called Personal Health Partner (PHP), which asked questions about the child's health and medication use. Responding parents were randomized to either PHP (interview and counseling) or control (injury prevention survey). Parents' responses were embedded in the electronic health record. After the physical visit, research assistants performed a phone follow-up survey.ResultsOf 475 parents, including 293 PHPs and 182 controls, 93% were women. We found a high prevalence of misuse of medications: 14% reported underdosing (n = 63) fever-reducer medications and 3% reported overdosing (n = 13). Twenty percent (n = 37) of the 190 children younger than 3 years had received cold medication. Thirty-three percent (n = 19) of 62 PHP parents of children on prescription medications reported nonadherence. Among children on prescription medications, PHP significantly increased discussion of medications at the physical, but not the number who brought medications to the visit; it had no impact on those not on prescription medications.ConclusionsPediatric medication misuse was common in this study. Use of a previsit interactive voice response system increased medication-related communication during visits and supports the need for systems that better prepare patients for visits and improve medication-related patient-physician communication.
| S-EPMC5610049 | biostudies-literature
Project description:BackgroundTo obtain evidence for the clinical and cost-effectiveness of treatments for patients with rare diseases is a challenge. Non-dystrophic myotonia (NDM) is a group of inherited, rare muscle diseases characterized by muscle stiffness. The reimbursement of mexiletine, the expert opinion drug for NDM, has been discontinued in some countries due to a lack of independent randomized controlled trials (RCTs). It remains unclear however, which concessions can be accepted towards the level 1 evidence needed for coverage decisions, in rare diseases. Considering the large number of rare diseases with a lack of treatment evidence, more experience with innovative trial designs is needed. Both NDM and mexiletine are well suited for an N-of-1 trial design. A Bayesian approach allows for the combination of N-of-1 trials, which enables the assessment of outcomes on the patient and group level simultaneously.Methods/designWe will combine 30 individual, double-blind, randomized, placebo-controlled N-of-1 trials of mexiletine (600 mg daily) vs. placebo in genetically confirmed NDM patients using hierarchical Bayesian modeling. Our results will be compared and combined with the main results of an international cross-over RCT (mexiletine vs. placebo in NDM) published in 2012 that will be used as an informative prior. Similar criteria of eligibility, treatment regimen, end-points and measurement instruments are employed as used in the international cross-over RCT.DiscussionThe treatment of patients with NDM with mexiletine offers a unique opportunity to compare outcomes and efficiency of novel N-of-1 trial-based designs and conventional approaches in producing evidence of clinical and cost-effectiveness of treatments for patients with rare diseases.Trial registrationClinicalTrials.gov Identifier: NCT02045667.
| S-EPMC4407841 | biostudies-literature
Project description:Background:The global proliferation of mobile phones offers opportunity for improved non-communicable disease (NCD) data collection by interviewing participants using interactive voice response (IVR) surveys. We assessed whether airtime incentives can improve cooperation and response rates for an NCD IVR survey in Bangladesh and Uganda. Methods:Participants were randomised to three arms: a) no incentive, b) 1X incentive or c) 2X incentive, where X was set to airtime of 50 Bangladesh Taka (US$0.60) and 5000 Ugandan Shillings (UGX; US$1.35). Adults aged 18 years and older who had a working mobile phone were sampled using random digit dialling. The primary outcomes, cooperation and response rates as defined by the American Association of Public Opinion Research, were analysed using log-binomial regression model. Results:Between 14 June and 14 July 2017, 440?262 phone calls were made in Bangladesh. The cooperation and response rates were, respectively, 28.8% (353/1227) and 19.2% (580/3016) in control, 39.2% (370/945) and 23.9% (507/2120) in 50 Taka and 40.0% (362/906) and 24.8% (532/2148) in 100 Taka incentive groups. Cooperation and response rates, respectively, were significantly higher in both the 50 Taka (risk ratio (RR) 1.36, 95%?CI 1.21 to 1.53) and (RR 1.24, 95%?CI 1.12 to 1.38), and 100 Taka groups (RR 1.39, 95% CI 1.23 to 1.56) and (RR 1.29, 95%?CI 1.16 to 1.43), as compared with the controls. In Uganda, 174?157 phone calls were made from 26 March to 22 April 2017. The cooperation and response rates were, respectively, 44.7% (377/844) and 35.2% (552/1570) in control, 57.6% (404/701) and 39.3% (508/1293) in 5000 UGX and 58.8% (421/716) and 40.3% (535/1328) in 10?000 UGX groups. Cooperation and response rates were significantly higher, respectively in the 5000 UGX (RR 1.29, 95% CI 1.17 to 1.42) and (RR 1.12, 95%?CI 1.02 to 1.23), and 10?000 UGX groups (RR 1.32, 95% CI 1.19 to 1.45) and (RR 1.15, 95%?CI 1.04 to 1.26), as compared with the control group. Conclusion:In two diverse settings, the provision of an airtime incentive significantly improved both the cooperation and response rates of an IVR survey, with no significant difference between the two incentive amounts. Trial registration number:NCT03768323.
| S-EPMC6747927 | biostudies-literature