Brain and Behavior (Jul 2022)
Nordic treatment guidelines for rare epileptic conditions: A literature review
Abstract
Abstract Introduction The onset of severe, drug‐resistant seizures in early childhood is characteristic of the rare epileptic disorders Lennox‐Gastaut syndrome (LGS), Dravet syndrome (DS), and CDKL5 deficiency disorder (CDD) and is frequently observed in the rare genetic conditions tuberous sclerosis complex (TSC) and Rett syndrome (RTT). High‐quality treatment guidelines are needed for optimal management of these conditions. This review aimed to assess content, availability, and development of treatment guidelines for these disorders in the Nordics region (Denmark, Finland, Iceland, Norway, and Sweden). Methods A targeted literature review (TLR) was therefore conducted in November/December 2020 by manually searching online rare disease and guideline databases in addition to relevant health technology assessment and regulatory agency websites to identify pharmacological treatment guidelines for DS, LGS, TSC, RTT, and CDD. Search terms for each disorder were translated to identify country‐specific guidelines. Treatment recommendations, geographical focus, and guideline development methodology was extracted into a predetermined extraction grid. Results Most of the 24 eligible guidelines identified (16/24; 66%) were specific to particular countries; Sweden was the most represented (7/24 [29%] guidelines), while no guidelines were identified for Iceland. Guideline development methodologies were heterogeneous, including systematic literature reviews/TLRs and expert consultation; several methodologies did not report details on the evidence sources used (7/24 [29%] guidelines). Treatment recommendation availability was variable across disorders, ranging from 126 treatment recommendations (LGS) to none (RTT, CDD). Conclusion Comprehensive, consensus‐based treatment guidance developed via international collaboration within the Nordics region is necessary to optimize patient care in these five rare epileptic conditions.
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