In order to estimate the cumulative incidence rates of the mucopolysaccharidoses (MPS) in Germany, a retrospective epidemiological survey covering the period between 1980 and 1995 was implemented. Multiple ascertainment sources were used to identify affected patients. A prevalence of approximately 0.69 cases per 100,000 births was obtained for MPS I (Hurler phenotype). Within the study period, 4 patients with Hurler/Scheie phenotype and 7 cases with Scheie disease were detected. The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100,000 births (1.3 cases per 100,000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in 100,000 births; that for MPS IV A (Morquio syndrome) as 0.38 cases in 100,000; and that for MPS VI (Maroteaux-Lamy syndrome) as 0.23 cases per 100,000 births. Two cases of MPS IVB (beta-galactosidase deficiency) have been identified, but no patients with MPS VII or MPS IX. A relatively high number of patients with MPS IIIB, MPS IVA and MPS VI were of Turkish origin. The crude rate for all types of mucopolysaccharidoses is approximately 3.53 cases in 100,000 live births. The cumulative incidence pattern of MPS in Germany was compared with the corresponding rates among other industrial nations obtained from recent literature: the crude cumulative rates for all types of mucopolysaccharidoses (3.4-4.5 in 100,000 live births) were similar among all published populations; however, different frequencies of the various forms of MPS were observed.
Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an individual patient. This study aimed to develop a scoring system--the Mainz Severity Score Index (MSSI)--to measure the severity of AFD and to monitor the clinical course of the disease in response to ERT. Thirty-nine patients (24 males and 15 females) with AFD were assessed using the MSSI immediately before and 1 year after commencing agalsidase alfa ERT. Control data were obtained from 23 patients in whom AFD was excluded. The MSSI of patients with AFD was significantly higher than that of patients with other severe debilitating diseases. The MSSI indicated that, although more men than women had symptoms classified as severe, overall, the median total severity scores were not significantly different between male and female patients. One year of ERT with agalsidase alfa led, in all patients, to a significant (p < 0.001) reduction in MSSI score (by a median of nine points). This study has shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT-related treatment effects.
Pediatric chronic pain, which can result in deleterious effects for the child, bears the risk of aggravation into adulthood. Intensive interdisciplinary pain treatment (IIPT) might be an effective treatment, given the advantage of consulting with multiple professionals on a daily basis. Evidence for the effectiveness of IIPT is scarce. We investigated the efficacy of an IIPT within a randomized controlled trial by comparing an intervention group (IG) (n=52) to a waiting-list control group (WCG) (n=52). We made assessments before treatment (PRE), immediately after treatment (POST), as well as at short-term (POST6MONTHS) and long-term (POST12MONTHS) follow-up. We determined a combined endpoint, improvement (pain intensity, disability, school absence), and investigated 3 additional outcome domains (anxiety, depression, catastrophizing). We also investigated changes in economic parameters (health care use, parental work absenteeism, subjective financial burden) and their relationship to the child's improvement. Results at POST showed that significantly more children in the IG than in the WCG were assigned to improvement (55% compared to 14%; Fisher P<.001; 95% confidence interval for incidence difference: 0.21% to 0.60%). Although immediate effects were achieved for disability, school absence, depression, and catastrophizing, pain intensity and anxiety did not change until short-term follow-up. More than 60% of the children in both groups were improved long-term. The parents reported significant reductions in all economic parameters. The results from the present study support the efficacy of the IIPT. Future research is warranted to investigate differences in treatment response and to understand the changes in economic parameters in nonimproved children.
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