Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.

Background: Although the genetic background of Dravet syndrome (DS) has been determined and is clearly described, and genetics tests that support a clinical diagnosis are available, DS diagnosis is often based on the clinical assessment alone, which may lead to a late or missed diagnosis. This study explores experiences of caregivers' of persons with DS with the diagnostic odyssey and their perception of its consequences for DS patients.

Results: 106 family caregivers connected with the Association for People with Severe Refractory Epilepsy DRAVET.PL completed an anonymised, self-administered, computer-assisted online survey on parents' experiences of the diagnostic journey conducted from March to June 2024. Although 96.2% of DS parents reported that their children experienced initial symptoms in the first year of life, 58.4% indicated that it took more than a year before DS was diagnosed and 72.7% reported that their DS child received at least one misdiagnosis. While 6.6% of patients were diagnosed by the first doctor consulted, 65.1% had to consult between two and four specialists and 22.8% consulted more than five specialists. 19.8% of parents confirmed that they sought diagnosis abroad. 58.4% of DS parents suggested that delayed diagnosis was harmful to their children's health. Many believed that it resulted in taking unnecessary or inappropriate medications (67%), hospitalisations (32.1%), or medical interventions (15.1%). Many parents reported problems with accessing genetic counselling and psychological support.

Conclusions: Since DS parents report the multifaceted and protracted diagnostic journey in their children, underscoring the duration of the diagnostic process, numerous misdiagnoses and the number of healthcare professionals involved in achieving the confirmed DS diagnosis, this study highlights the need for widespread access to genetic testing, which usually concludes the diagnostic odyssey and is crucial for managing the proper treatment plan for DS patients. It also shows the need to increase general practitioners' awareness of the developmental and epileptic encephalopathy (DEE) and the creation of more rapid and transparent referral procedures for children with DEE.