Klin Padiatr 2018; 230(04): 215-224
DOI: 10.1055/a-0586-4365
Originalarbeit
© Georg Thieme Verlag KG Stuttgart · New York

Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland (ESPED) – 25 Jahre pädiatrische Epidemiologie: Eine Bestandsaufnahme

25 Years of ESPED as a Surveillance Tool for Rare Diseases in Children in Germany: A Critical Analysis
Daniel Ebrahimi-Fakhari
1   Department of General Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
,
Michael Zemlin
1   Department of General Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
,
Harald Sauer
2   Department of Pediatric Cardiology, Saarland University Medical Center, Homburg, Germany
,
Martin Poryo
2   Department of Pediatric Cardiology, Saarland University Medical Center, Homburg, Germany
,
Norbert Graf
3   Department of Pediatric Haematology and Oncology, Saarland University Medical Center, Homburg, Germany
,
Sascha Meyer
1   Department of General Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
› Institutsangaben
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Publikationsverlauf

Publikationsdatum:
03. April 2018 (online)

Zusammenfassung

Hintergrund Die Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland (ESPED) wurde 1992 mit dem Ziel gegründet, Daten zur Inzidenzbestimmung und zum Krankheitsverlauf seltener pädiatrischer Erkrankungen zu erheben.

Methoden und Fragestellung Retrospektive Analyse der von 1992–2017 durch ESPED erhobenen epidemiologischen Daten bezüglich untersuchter Krankheitsbilder und -gruppen sowie systematische Analyse sämtlicher nationaler und internationaler ESPED-Publikationen. Zudem wurden die Kriterien zur Evaluation von Surveillance-Systemen des Center of Disease Control and Prevention (CDC) auf ESPED bzgl. Einfachheit, Flexibilität, Rechtzeitigkeit, Qualität der Daten, Repräsentanz und Vollständigkeit, Akzeptanz und Stabilität angewandt.

Ergebnisse Im Zeitraum 1992–2017 wurden prospektiv 96 seltene Krankheitsentitäten untersucht. Die 3 größten Krankheitsgruppen waren: Infektiologie (n=30), Neuropädiatrie (n=14) und Hämatologie/Hämostaseologie (n=10). Es wurden 337 Publikationen in Kooperation mit ESPED in nationalen und internationalen Fachzeitschriften veröffentlicht. Bei den 192 Publikationen mit Impact-Faktor (IF) betrug der mediane IF 2,587 (Range 0,032–28,409). Die höchsten IF wurden in den Bereichen Endokrinologie/Stoffwechsel (n=130; medianer IF=3,534), Infektiologie (n=83; medianer IF=3,131) und Hämatologie/Hämostaseologie (n=37; medianer IF=2,497) erzielt. Unsere Untersuchung zeigte, dass ESPED die definierten CDC-Qualitätskriterien erfüllt.

Schlussfolgerung ESPED ist ein sinnvolles, qualitativ hochwertiges Instrument zur Erfassung der Inzidenz sowie zur Beschreibung klinischer Erscheinungsformen von seltenen pädiatrischen Erkrankungen. Dies spiegelt sich in Publikationen in hochkarätigen nationalen und internationalen Fachzeitschriften wider.

Abstract

Background The German Paediatric Surveillance Unit (ESPED) was founded in 1992 to generate incidence data and detailed clinical descriptions of rare, childhood-onset diseases.

Methods Retrospective analysis of the ESPED epidemiological data collection from 1992–2017, and analysis of all published national and international publications originating from ESPED surveys. Center of Disease Control and Prevention (CDC) criteria for evaluating surveillance systems (simplicity, flexibility, timeliness, usefulness, data quality, representativeness, stability and acceptability) were adopted and applied to available ESPED data.

Results Between 1992 and 2017 ESPED completed 96 prospective studies on rare diseases in children. The 3 most frequent clinical entities were: Infectious/communicable disease (n=30), neurological diseases (n = 14) and hematologic diseases (n=10). Studies resulted in 337 publications in national and international journals. The median impact factor of the 192 journal publications with (impact factor) was 2,587 (range 0,032–28,409). The highest impact factors were seen in the fields of endocrinology/metabolism (n=130; median IF=3,534), infectious diseases (n=83; median IF=3,131) and hematology (n=37; median IF=2,497). Our analysis indicates that ESPED surveys meet CDC quality standards.

Conclusion ESPED surveys are an important contributor in the field of clinical epidemiology in children with rare diseases. The high quality of ESPED surveys is reflected by high-impact publications in both national and international journals.

 
  • Literatur

  • 1 Altmann M, Fiebig L, Buda S. et al. Unchanged severity of influenza A(H1N1)pdm09 infection in children during first postpandemic season. Emerg Infect Dis 2012; 18: 1755-1762
  • 2 Bendas A, Rothe U, Kiess W. et al. Trends in Incidence Rates during 1999-2008 and Prevalence in 2008 of Childhood Type 1 Diabetes Mellitus in Germany – Model-Based National Estimates. PLoS One 2015; 10: e0132716
  • 3 Brenner H. Use and limitations of the capture-recapture method in disease monitoring with two dependent sources. Epidemiology 1995; 6: 42-48
  • 4 Brockmann K, Warthemann R, Schroeder S. The Acquisition of Rare Neurological Disorders in Childhood (”ESNEK”): First Interim Results after 2 Years. Neuropediatrics 2017; 48: S1-S45
  • 5 Cornelissen M, von Kries R, Loughnan P. et al. Prevention of vitamin K deficiency bleeding: efficacy of different multiple oral dose schedules of vitamin K. Eur J Pediatr 1997; 156: 126-130
  • 6 Ebrahimi-Fakhari D, Müller CSL, Altmeyer K. et al. Tuberöse Sklerose im Kindes- und Jugendalter. Monatsschrift Kinderheilkunde 2018; 166: 65-78 DOI: 10.1007/s00112-017-0353-6
  • 7 Ebrahimi-Fakhari D, Poryo M, Graf N. et al. Optimized care in Patients with Rare Diseases: TSC at the Center for Rare Diseases (ZSEUKS) at Saarland University Medical Center, Germany. Klin Padiatr 2017; 221 DOI: DOI: 10.1055/s-0043-120069.
  • 8 Elliott EJ, Nicoll A, Lynn R. et al. Rare disease surveillance: An international perspective. Paediatr Child Health 2001; 6: 251-260
  • 9 European Commission – Directorate:General for Health and Food Safety. Rare diseases http://ec.europa.eu/health/rare_diseases/policy_en (last accessed on March 27 2017).
  • 10 Gazarian M, Williams K, Elliott E. et al. Evaluation of a national surveillance unit. Arch Dis Child 1999; 80: 21-27
  • 11 German RR, Lee LM, Horan JM. et al. Updated guidelines for evaluating public health surveillance systems: recommendations from the Guidelines Working Group. MMWR Recomm Rep 2001; 50: 1-35 quiz CE31-37
  • 12 Grenier D, Elliott EJ, Zurynski Y. et al. Beyond counting cases: public health impacts of national Paediatric Surveillance Units. Arch Dis Child 2007; 92: 527-533
  • 13 Hall SM, Glickman M. The British Paediatric Surveillance Unit. Arch Dis Child 1988; 63: 344-346
  • 14 Hoffmann GF, von Kries R, Klose D. et al. Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr 2004; 163: 76-80
  • 15 Hoy SM. Nusinersen: First Global Approval. Drugs 2017; 77: 473-479
  • 16 Jakob A, Whelan J, Kordecki M. et al. Kawasaki Disease in Germany: A Prospective, Population-based Study Adjusted for Underreporting. Pediatr Infect Dis J 2016; 35: 129-134
  • 17 Kingswood JC, d'Augeres GB, Belousova E. et al. TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet J Rare Dis 2017; 12: 2
  • 18 Klose DA, Kolker S, Heinrich B. et al. Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. Pediatrics 2002; 110: 1204-1211
  • 19 Meyer S, Loffler G, Gencik M. et al. Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. Am J Med Genet A 2013; 161A: 626-629
  • 20 Patterson CC, Dahlquist GG, Gyurus E. et al. Incidence trends for childhood type 1 diabetes in Europe during 1989-2003 and predicted new cases 2005-20: a multicentre prospective registration study. Lancet 2009; 373: 2027-2033
  • 21 Poets A, Steinfeldt R, Poets CF. Sudden deaths and severe apparent life-threatening events in term infants within 24 hours of birth. Pediatrics 2011; 127: e869-e873
  • 22 Reinhardt K, Weiss S, Rosenbauer J. et al. Multiple sclerosis in children and adolescents: incidence and clinical picture – new insights from the nationwide German surveillance (2009-2011). Eur J Neurol 2014; 21: 654-659
  • 23 Rosenbauer J, Herzig P, von Kries R. et al. Temporal, seasonal, and geographical incidence patterns of type I diabetes mellitus in children under 5 years of age in Germany. Diabetologia 1999; 42: 1055-1059
  • 24 Schielke A, Takla A, von Kries R. et al. Marked Under-Reporting of Pertussis Requiring Hospitalization in Infants as Estimated by Capture-Recapture Methodology, Germany, 2013-2015. Pediatr Infect Dis J 2017; DOI: DOI: 10.1097/INF.0000000000001698.
  • 25 Schmidt E, von Kries R, Herzig P. Die Erhebungseinheit fur seltene padiatrische Erkrankungen in Deutschland (ESPED). Teil 1: Angebot eines Instrumentes fur epidemiologische Forschung. Monatsschrift Kinderheilkunde 1993; 141: 758-759
  • 26 Verity C, Preece M. Surveillance for rare disorders by the BPSU. The British Paediatric Surveillance Unit. Arch Dis Child 2002; 87: 269-271
  • 27 von Kries R, Heinrich B, Hermann M. Pädiatrische Epidemiologie in Deutschland: Forschungsinstrument ESPED (Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland). Monatsschrift Kinderheilkunde 2001; 149: 1191-1197
  • 28 Weiss S, Streng A, Kries R. et al. Incidence of intussusception in early infancy: a capture-recapture estimate for Germany. Klin Padiatr 2011; 223: 419-423
  • 29 Wetterauer B, Schuster R. Rare diseases. Funding programs in Germany and Europe. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2008; 51: 519-528
  • 30 Whyte MP, Greenberg CR, Salman NJ. et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 2012; 366: 904-913