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The objectives of this study were to investigate types of supportive school services received and factors related to provision of these services. We conducted a cross-sectional study to describe the school experience of males with Duchenne and Becker muscular dystrophies. Study subjects were identified through the Muscular Dystrophy Surveillance, Tracking, and Research Network. Non-ambulatory males with Duchenne muscular dystrophy (DMD) were significantly more likely to use an instructional assistant and resource room support when compared to ambulant males with DMD at the time of the caregiver interview. Males with DMD who received occupational therapy were more likely to use an instructional assistant, while those who received speech therapy were more likely to repeat a grade, use an instructional assistant, and receive resource room support. Males with DMD whose primary caregivers had less than 12 years of education were more likely to use an instructional assistant and resource room support. Non-ambulatory males with DMD should continue receiving appropriate school accommodations so they can keep pace with their physical demands. Males with DMD with speech deficits should be considered for various educational interventions. [This article was also written by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).]

ObjectiveTo determine the short-term and long-term effects of dichlorphenamide (DCP) on attack frequency and quality of life in hyperkalemic (HYP) and hypokalemic (HOP) periodic paralysis.MethodsTwo multicenter randomized, double-blind, placebo-controlled trials lasted 9 weeks (Class I evidence), followed by a 1-year extension phase in which all participants received DCP. Forty-four HOP and 21 HYP participants participated. The primary outcome variable was the average number of attacks per week over the final 8 weeks of the double-blind phase.ResultsThe median attack rate was lower in HOP participants on DCP than in participants on placebo (0.3 vs 2.4, p = 0.02). The 9-week mean change in the Physical Component Summary score of the Short Form-36 was also better in HOP participants receiving DCP (treatment effect = 7.29 points, 95% confidence interval 2.26 to 12.32, p = 0.006). The median attack rate was also lower in HYP participants on DCP (0.9 vs 4.8) than in participants on placebo, but the difference in median attack rate was not significant (p = 0.10). There were no significant effects of DCP on muscle strength or muscle mass in either trial. The most common adverse events in both trials were paresthesia (47% DCP vs 14% placebo, both trials combined) and confusion (19% DCP vs 7% placebo, both trials combined).ConclusionsDCP is effective in reducing the attack frequency, is safe, and improves quality of life in HOP periodic paralysis.Classification of evidenceThese studies provide Class I evidence that DCP significantly reduces attack frequency in HOP but lacked the precision to support either efficacy or lack of efficacy of DCP in HYP.

Duchenne muscular dystrophy (DMD) is an inherited disorder in which affected individuals either completely lack or have a serious abnormality of a muscle protein that has been dubbed dystrophin. Since the gene for DMD is carried on the X chromosome, the disorder is sex-linked and the overwhelming majority of victims are boys. Curiously, boys with DMD are born with normal muscle strength which then deteriorates as they age. Previous research has shown that the drug prednisone, given on a daily basis, increases the muscle strength of patients with DMD. Prednisone is not without side effects, however, and a study was conducted to determine if it might be possible to drop the prednisone doses to every other day without losing significant efficacy. This study continued the treatment of 103 boys who had participated in the original study showing prednisone effectiveness. The 34 boys who had been taking placebo and served as controls in the original study were now placed on an alternate-day schedule of prednisone therapy. An additional 31 boys were switched from a daily schedule to the alternate-day schedule. The remaining boys continued on the daily schedule. The muscle strength of the patients was measured regularly for the six-month study period. Examinations revealed that the alternate-day schedule improved the muscle strength of the 34 boys who had just begun therapy, but resulted in a decline in the strength of the boys who were switched from the daily schedule. For the first three months, the rate of improvement of the boys beginning treatment on the alternate-day schedule was similar to the improvement of patients on the daily schedule. However, this improvement was not sustained; during the next three months it declined significantly, compared with the progress of the boys receiving daily doses. The side effects of the prednisone treatment were similar in the daily and the alternate-day groups. The daily-dose regimen is therefore more effective than the alternate-day schedule and causes little or no difference in the likelihood of side effects. (Consumer Summary produced by Reliance Medical Information, Inc.)

Abstract Background The Individualised Neuromuscular Quality of Life (INQoL) questionnaire is a published muscle disease specific measure of QoL that has been validated using both qualitative and quantitative methods in a United Kingdom population of adults with muscle disease. If INQoL is to be used in other countries it needs to be linguistically and culturally validated for those countries. It may be important to understand any cultural differences in how patients rate their QoL when applying QoL measures in multi-national clinical trials. Methods We conducted a postal survey of QoL issues in US adults with muscle disease using an agreed translation, from UK to US English, of the same questionnaire as was used in the original construction of INQoL. This questionnaire included an opportunity for free text comments on any aspects of QoL that might not have been covered by the questionnaire. We examined the responses using both quantitative and qualitative approaches. The frequency of the responses in US versus UK populations was compared using appropriate correlation tests and Rasch analysis. A phenomenological approach was used to guide the qualitative analysis and facilitate the exploration of patients' perceptions and experiences. Results The US survey received 333 responses which were compared with 251 UK survey responses. We found that INQoL domains covered all the issues raised by US subjects with no additional domains required. The experiences of those with muscle disease were remarkably similar in the US and UK but there were differences related to the impact of muscle disease on relationships and on employment which was greater for those living in the United States. The greater impact on employment was associated with a higher importance rating given to employment in the US. This may reflect the lower level of financial support for those who are unemployed, and the loss of employment related health benefits. Conclusions INQoL is appropriate for use in US population but there may be differences in the importance that US subject attach to certain aspects of QoL that could be the basis for further study. If these differences are confirmed then this may have implications for the interpretation of QoL outcomes in multi-national trials.

Background: Quantifying associations between genetic mutations and loss of ambulation (LoA) among males diagnosed with childhood‐onset dystrophinopathy is important for understanding variation in disease progression and may be useful in clinical trial design. Methods: Genetic and clinical data from the Muscular Dystrophy Surveillance, Tracking, and Research Network for 358 males born and diagnosed from 1982 to 2011 were analyzed. LoA was defined as the age at which independent ambulation ceased. Genetic mutations were defined by overall type (deletion/duplication/point mutation) and among deletions, those amenable to exon‐skipping therapy (exons 8, 20, 44–46, 51–53) and another group. Cox proportional hazards regression modeling was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs). Results: Mutation type did not predict time to LoA. Controlling for corticosteroids, Exons 8 (HR = 0.22; 95% CI = 0.08, 0.63) and 44 (HR = 0.30; 95% CI = 0.12, 0.78) were associated with delayed LoA compared to other exon deletions. Conclusions: Delayed LoA in males with mutations amenable to exon‐skipping therapy is consistent with previous studies. These findings suggest that clinical trials including exon 8 and 44 skippable males should consider mutation information prior to randomization. [ABSTRACT FROM AUTHOR]