The Challenges of the European Anorectal Malformations-Net Registry

Ekkehart Jenetzky; Iris A. L. M. van Rooij; Dalia Aminoff; Nicole Schwarzer; Heiko Reutter; Eberhard Schmiedeke; Paola Midrio; Ivo de Blaauw

doi:10.1055/s-0035-1569149

European Journal of Pediatric Surgery, Table of Contents

Eur J Pediatr Surg 2015; 25(06): 481-487
DOI: 10.1055/s-0035-1569149

Review Article

Georg Thieme Verlag KG Stuttgart · New York

The Challenges of the European Anorectal Malformations-Net Registry

Ekkehart Jenetzky

¹Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany

²Self-Help Organisation for People with Anorectal Malformation—SoMA e.V., Munich, Germany

³Department of Child and Adolescent Psychiatry and Psychotherapy, Johannes-Gutenberg University, Mainz, Germany

,

Iris A. L. M. van Rooij

⁴Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands

,

Dalia Aminoff

⁵Associazione Italiana per le Malormazioni Anorettali—AIMAR, Rome, Italy

,

Nicole Schwarzer

²Self-Help Organisation for People with Anorectal Malformation—SoMA e.V., Munich, Germany

,

Heiko Reutter

⁶Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany

⁷Institute of Human Genetics, University of Bonn, Bonn, Germany

,

Eberhard Schmiedeke

⁸Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany

,

Paola Midrio

⁹Department of Pediatric Surgery, Ospedale Ca' Foncello, Treviso, Italy

,

Ivo de Blaauw

¹⁰Department of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, Nijmegen, The Netherlands

¹¹Department Pediatric Surgery, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands

› Author Affiliations

Abstract

Anorectal malformations (ARM) have a low prevalence, patients need specialized surgical care, and in many cases, patients born with ARM even need life-long aftercare. Due to its low prevalence most patients are still treated in low-volume pediatric surgical centers without any adequate monitoring of the outcome. Data on prevalence, comparison of different surgical techniques, and prospective outcome measurements are still scarce and difficult to interpret. In 2010, a consortium was founded (ARM-Net consortium) including several European pediatric surgical centers to collaborate more in research and share knowledge on ARM. One of the structures started by the consortium was an ARM-Net registry for the inclusion of all future patients treated in these centers. With this review, we report the structure of the ARM-Net registry, some of the results, and discuss the challenges we faced and still face after its introduction in 2010.

Keywords

anorectal malformation - registry - network - rare diseases

Full Text

References

References
1 Cuschieri A ; EUROCAT Working Group. Anorectal anomalies associated with or as part of other anomalies. Am J Med Genet 2002; 110 (2) 122-130
2 Jenetzky E. Prevalence estimation of anorectal malformations using German diagnosis related groups system. Pediatr Surg Int 2007; 23 (12) 1161-1165
3 Jenetzky E, Reckin S, Schmiedeke E , et al. Practice of dilatation after surgical correction in anorectal malformations. Pediatr Surg Int 2012; 28 (11) 1095-1099
4 Holschneider A, Hutson J, Peña A , et al. Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations. J Pediatr Surg 2005; 40 (10) 1521-1526
5 van der Steeg HJ, Schmiedeke E, Bagolan P , et al. European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations. Tech Coloproctol 2015; 19 (3) 181-185
6 Hamid CH, Holland AJ, Martin HC. Long-term outcome of anorectal malformations: the patient perspective. Pediatr Surg Int 2007; 23 (2) 97-102
7 Schmiedeke E, Zwink N, Schwarzer N , et al. Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies. Pediatr Surg Int 2012; 28 (8) 825-830
8 European Concerted Action on Congenital Anomalies and Twins (EUROCAT) . Available at: http://www.eurocat-network.eu . Accessed November 20, 2015
9 European Project for Rare Diseases National Plans Development . Available at: http://www.europlanproject.eu . Accessed November 20, 2015
10 Schmiedeke E, de Blaauw I, Lacher M , et al. Towards the perfect ARM center: the European Union's criteria for centers of expertise and their implementation in the member states. A report from the ARM-Net. Pediatr Surg Int 2015; 31 (8) 741-745
11 Dworschak GC, Draaken M, Hilger AC , et al. Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities. Birth Defects Res A Clin Mol Teratol 2015; 103 (4) 235-242
12 Wijers CH, de Blaauw I, Marcelis CL , et al. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. Pediatr Surg Int 2010; 26 (11) 1093-1099
13 Jenetzky E, Wijers CH, Marcelis CM, Zwink N, Reutter H, van Rooij IA. Bias in patient series with VACTERL association. Am J Med Genet A 2011; 155A (8) 2039-2041 , author reply 2042–2043
14 Mathis-Edenhofer S, Piso B. Types of medical registries - definitions, methodological aspects and quality of the scientific work with registries [in German]. Wien Med Wochenschr 2011; 161 (23–24) 580-590
15 Gliklich RE, Dreyer NA eds. Registries for Evaluating Patient Outcomes: A User's Guide. 2nd ed. (Prepared by Outcome DEcIDE Center [Outcome Sciences, Inc. d/b/a Outcome] under Contract No. HHSA29020050035I TO3.) AHRQ Publication No.10–EHC049. Rockville, MD: Agency for Healthcare Research and Quality; 2010
16 de Blaauw I, Wijers CH, Schmiedeke E , et al. First results of a European multi-center registry of patients with anorectal malformations. J Pediatr Surg 2013; 48 (12) 2530-2535
17 Wijers CHW, de Blaauw I, Zwink N , et al. No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations. Birth Defects Res A Clin Mol Teratol 2014; 100 (6) 483-492
18 Morandi A, Ure B, Leva E, Lacher M. Survey on the management of anorectal malformations (ARM) in European pediatric surgical centers of excellence. Pediatr Surg Int 2015; 31 (6) 543-550
19 Muscholl M, Lablans M, Wagner TOF, Ückert F. OSSE–open source registry software solution. Orphanet J Rare Dis 2014; 9 (Suppl. 01) O9
20 Lablans M, Muscholl M, Hartz T, Storf H, Wagner T, Ücker F. OSSE–open source registry solution. Available at: http://www.rare-diseases.eu/wp-content/uploads/2013/08/45_t2.pdf . Accessed November 20, 2015