Objective: To determine the incidence and prevalence of facioscapulohumeral muscular dystrophy (FSHD) in the Netherlands.Methods: Using 3-source capture-recapture methodology, we estimated the total yearly number of newly found symptomatic individuals with FSHD, including those not registered in any of the 3 sources. To this end, symptomatic individuals with FSHD were available from 3 large populationbased registries in the Netherlands if diagnosed within a 10-year period (January 1, 2001 to December 31, 2010). Multiplication of the incidence and disease duration delivered the prevalence estimate.Results: On average, 52 people are newly diagnosed with FSHD every year. This results in an incidence rate of 0.3/100,000 person-years in the Netherlands. The prevalence rate was 12/100,000, equivalent to 2,000 affected individuals.Conclusions: We present population-based incidence and prevalence estimates regarding symptomatic individuals with FSHD, including an estimation of the number of symptomatic individuals not present in any of the 3 used registries. This study shows that the total number of symptomatic persons with FSHD in the population may well be underestimated and a considerable number of affected individuals remain undiagnosed. This suggests that FSHD is one of the most prevalent neuromuscular disorders. Recently, a unifying genetic model of facioscapulohumeral muscular dystrophy (FSHD) was described, thereby facilitating identification of potential therapeutic targets.1 As clinical studies on FSHD interventions can be expected in the near future, accurate data on FSHD epidemiology are needed for trial readiness.Several studies reported on FSHD epidemiology (figure 1, table e-1 on the Neurology ® Web site at Neurology.org); 4 were performed after genetic testing became available but did not report on population-based incidence estimates.2 In the Netherlands, people newly diagnosed with a neuromuscular disorder are registered nationwide by 7 neuromuscular centers in CRAMP (Computer Registry of all Myopathies and Polyneuropathies).3 This registry provides an opportunity to study frequencies of FSHD among the Dutch population.FSHD frequencies are prone to underestimation because this disease is characterized by a high degree of clinical variability with a large proportion of individuals with mild symptoms. Moreover, relatives of persons diagnosed with FSHD may not seek medical attention. 4 We used capturerecapture methodology to estimate the total number of symptomatic individuals with FSHD by combining CRAMP data with 2 other large population-based registries. This includes those not *These authors contributed equally.

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology Huisman, M.H.B.; de Jong, S.W.; van Doormaal, P.T.C.; Weinreich, S.S.; Schelhaas, H.J.; van der Kooi, A.J.; Visser, M.; Veldink, J.H.; Berg, L.H.

In many European countries neonatal screening has been introduced over the last 50 years as an important public health programme. Depending on health care structure, available funds, local politics, input from professional groups, parent groups, and the general public this introduction has led to different approaches in the way the screening programmes have been set up, financed and governed. To get some insight about the current situation, in 2009 the European Union, via its EAHC agency, put out a call for a tender that was acquired by our project group. An online survey was compiled in which the whole screening programme was covered by a questionnaire. This survey covered the EU member states, (potential) candidate member states and EFTA countries, in total 40 countries. Results showed little consensus concerning 1. information of parents including informed consent; 2. which conditions are screened for, ranging from 1 to around 30 conditions; 3. sampling time post partum; 4. screening methodology including cut-offs values even between screening laboratories within countries.; 5. storage of residual specimens, varying from 3 months to 1000 years. In addition, confirmatory diagnostics and follow-up also show large discrepancies (Burgard et al. http://www.iss.it/cnmr/prog/cont.php?id=1621&lang=1&tipo=64 2011). In addition to the current practices report an expert opinion document has been produced with recommendations to the EU Commission for future improvements, e.g. in parallel to the way the USA has harmonized its practices based on recommendations by the American College of Medical Genetics (Watson et al., Pediatrics 117: S296-S307, 2006).