ESNEK: The Acquisition of Rare Neurological Disorders in Childhood: An Update after Seven Years

Background: Following the model of ESPED (Survey Unit of Rare Paediatric Diseases in Germany), we established the “Survey of Rare Neurological Diseases in Childhood - ESNEK” in 2014 to collect sufficiently large patient cohorts for research projects on various aspects of rare neurological diseases in childhood and adolescence.

Methods: Clinically researching neuropediatricians in German-speaking countries can register a research project with ESNEK, including an exposé and a declaration of consent for the parents. A study can be included in ESNEK if it concerns a rare neurological disease in childhood (0–17 years), so that a sufficient number of cases for the study purposes can only be recorded by a nationwide survey. Thanks to a grant from the Lower Saxony MWK, we have been able to offer ESNEK surveys free of charge up to now.

Results: Since October 2014, a total of 30 ESNEK queries have been sent out. The initiatives for these research projects came primarily from (predominantly university) neuropediatrics (Datteln, Essen, Freiburg, Gottingen, Hamburg, Heidelberg, Homburg/Saar, Köln, Munster, Regensburg), but also from adult neurology (Lübeck, Tubingen) and human genetics (Gottingen, Leipzig). The thematic spectrum ranged from infantile epilepsies to progeria syndromes, from the recording of phenotypic variability to the therapy evaluation of special rare neuropediatric clinical pictures. The number of cases reported back by the neuropediatricians contacted ranged from zero (ADCK3-associated ataxias) to approximately 100 (hydrocephalus). So far, 12 publications in peer-reviewed scientific journals have resulted from these ESNEK projects.

Conclusion: ESNEK facilitates research projects on rare childhood neurological disorders.

Publication History

Article published online:
28 October 2021