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. 2025 Apr;10(2):450-465.
doi: 10.1002/epi4.13127. Epub 2025 Feb 1.

Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus

Andreas Brunklaus  1   2 , Susanne Schubert-Bast  3 , Francesca Darra  4 , Katherine Nickels  5 , Delphine Breuillard  6 , Andrea Giuffrida  7 , Claire Eldred  8 , Silke Flege  9 , Elena Cardenal-Muñoz  10 , Rocío Sánchez-Carpintero  11   12
Affiliations

Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus

Andreas Brunklaus et al. Epilepsia Open. 2025 Apr.

Abstract

Objective: Dravet syndrome is a developmental and epileptic encephalopathy characterized by drug-resistance, lifelong seizures, and significant comorbidities including intellectual and motor impairment. Receiving a diagnosis of Dravet syndrome is challenging for parents/caregivers, and little research has focused on how the diagnosis should be given. A Delphi consensus process was undertaken to determine key aspects for healthcare professionals (HCPs) to consider when communicating a Dravet syndrome diagnosis to parents/caregivers.

Methods: Following a literature search and steering committee review, 34 statements relating to the first diagnosis consultation were independent- and anonymously voted on (from 1, totally inappropriate, to 9, totally appropriate) by an international group of expert child neurologists, neuropsychiatrists, nurses, and patient advisory group (PAG) representatives. The statements were divided into five chapters: (i) communication during the first diagnosis consultation, (ii) information to be delivered during the first diagnosis consultation, (iii) points to be reiterated at the end of the first diagnosis consultation, (iv) information to be delivered at subsequent consultations, and (v) communication around genetic testing. Statements receiving ≥ 75% of the votes with a score of ≥7 and/or with a median score of ≥8 were considered consensual.

Results: The statements were evaluated by 44 HCPs and PAG representatives in the first round of voting; 29 statements obtained strong consensus, 3 received good consensus, and 2 did not reach consensus. The committee reformulated and resubmitted 4 statements for evaluation (42/44 voters): 3 obtained strong consensus and 1 remained not consensual. The final consensual recommendations include guidance on consultation setting, key disease aspects to convey, how to discuss genetic testing results, disease evolution, and the risk of SUDEP, among other topics.

Significance: It is hoped that this international Delphi consensus will facilitate a better-structured initial diagnosis consultation and offer further support for parents/caregivers at this challenging time of learning about Dravet syndrome.

Plain language summary: Diagnosis of Dravet syndrome, a rare and severe form of childhood-onset epilepsy, is often challenging to give to parents. This international study developed guidance and recommendations to help healthcare professionals better structure and personalize this disclosure. By following this advice, doctors can provide more tailored support to families, improving their understanding and management of the condition.

Keywords: Delphi consensus; Dravet syndrome; best practice recommendations; diagnosis communication; healthcare professional‐patient relationship.

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Conflict of interest statement

Prof. AB has received honoraria for presenting at educational events, advisory boards and consultancy work for Biocodex, Encoded Therapeutics, Jazz/GW Pharma, Nutricia, Servier, Stoke Therapeutics, and UCB/Zogenix. Mrs. DB received honoraria for consulting and lecture from Eisai and Jazz Pharmaceuticals. Prof. FD received honoraria for consulting from Biocodex, UCB Pharma/Zogenix, Ethos srl, Neuraxpharm Italy S.p.A. Mrs. CE declares no conflict of interest. Mrs. SF declares no conflict of interest. Mr. AG declares no conflict of interest. Dr. KN received honoraria for consulting for Biocodex, UCB Pharma/Zogenix, Eyzs, Takeda, and Longboard. Prof. SSB received honoraria for lectures, presentations, speakers bureaus, manuscript writing, or educational events from Biocodex, UCB Pharma, Desitin Arzneimittel, Eisai, Zogenix, GW/Jazz Pharmaceuticals, Ethypharm, Takeda, Marinus Pharma. Dr. ECM is a full‐time employee of Biocodex. Dr. RSC received honoraria for presentations and manuscript writing from Biocodex, UCB Pharma/Zogenix. The authors confirm that they have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

Figures

FIGURE 1
FIGURE 1
Composition of rating group and responder rates. *Inclusion of an eligibility question at the beginning of the questionnaire: “Do you participate in the announcement of the diagnosis of patients with Dravet syndrome?”.
FIGURE 2
FIGURE 2
Characteristics of the rating group. DS, Dravet syndrome; PAG, patient advisory group; *Question asked to healthcare professionals only.
FIGURE 3
FIGURE 3
(Box 1). Parents and caregivers' perspectives. A note from the two PAG representatives members of the SC and co‐authors of this study. GTCS, generalized tonic–clonic seizures; PAG, patient advocacy group; SC, steering committee; SUDEP, sudden unexpected death in epilepsy.
See this image and copyright information in PMC

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