Authors :
Presenting Author: Simona Giorgi, MSc – Dravet Syndrome Foundation Spain
Stéphane Auvin, MD – Hôpital Robert Debré, Paris, France.; An-Sofie Schoonjans, MD – UZA University of Antwerp, Antwerp, Belgium.; Eulalia Turón, MD – Hospital Sant Pau, Barcelona, Spain.; Antonio Gil-Nagel, MD – Hospital Ruber Internacional, Madrid.; Lieven Lagae, MD – KU Leuven, Leuven, Belgium.; José Ángel Aibar, Mr – Dravet Syndrome Foundation Spain
Rationale: Dravet Syndrome (DS) is a rare form of epilepsy. Beyond seizures, DS presents various comorbidities, including a range of neuropsychiatric disorders which impact both the patient’s and the family’s quality of life (QoL). These neuropsychiatric comorbidities are often underdiagnosed, and their management requires a multidisciplinary approach (Wirrell et al., 2022). Currently, there is no DS specific tool for early comorbidities detection and assessment.
Methods: We developed a tailored checklist called DS Associated Neuropsychiatric Comorbidities Evaluation or DANCE. Its objectives are raising awareness about the DS associated neuropsychiatric comorbidities, provide a simple tool for its assessment in patients and families and guide healthcare teams and caregivers in the management of the disease. The questionnaire is close ended, and each question is tailored to avoid non response. The DANCE checklist is intended to be completed by caregivers, while also offering the option to consult healthcare professionals if needed. A pilot study was performed recruiting caregivers from Spain, France, and Belgium.
Results: A total of 15 DS caregivers completed the DANCE interview, encompassing patients of various age groups (range: 0.67-24 years old), with a median age of 10 years old. The DANCE checklist initially assesses cognition and behavior, measuring outcomes such as poor eye contact (reported by 6 caregivers out of 15), attention difficulties (15/15), executive skills problems (11/15), language difficulties (13/15), hyperactivity (6/15), and impulsivity (13/15), among others.
Regarding motor skills, only three out of 15 patients were reported to have complete mobility, whereas the most common mobility impairments were balance or coordination problems (14/15).
Moving on to the daily life of the patients, none were reported to be independent in self care, however six out of 15 were able to eat independently. Inquiries about sleep revealed that four out of 15 took sleep medication and four out of 15 reported early waking.
Significantly QoL of the whole family was also assessed: 10 caregivers out of 15 reported high levels of stress in the family including siblings, and 13 out of 15 noted that their family life was completely altered because of DS.
Furthermore, we evaluated the caregivers' most significant concerns. On a scale from 0 to 10, the most severe concerns were the patients’ cognition (mean=7.82±3.56), the daily QoL of patients (7.76±3.23), and behaviour (7.76±3.15).
Finally, we asked caregivers to provide feedback about the questionnaire from one to five on comprehensiveness (mean=4.20±0.86), clarity (3. 93±0.88), ease of completion (4.27±0.96), and usefulness (4.47±0.64).
Conclusions: This pilot study demonstrates the feasibility for further development and implementation of the study. This tool could be useful for clinicians, patients, and caregivers alike. It may be used as a diagnostic, screening, and follow-up tool in a complementary fashion with other approaches. A tailored-from-pilot tool will be developed to perform longitudinal studies.
Funding: Biocodex