Introduction

The seizure phenotype of Dravet Syndrome (DS) associated with pathogenic variants of the SCN1A gene is well described. This severe, epileptic encephalopathy typically starts in the first year of life in otherwise healthy infants. However, the occurrence of co-morbidities is not as well documented, and these can significantly influence quality of life.

Aim & Methods

The aim of this retrospective study was to determine the clinical profile of co-morbidities in DS, including age of diagnosis, seizure types, movement disorder, cognitive and feeding issues.

Results

Our cohort comprised six patients with genetically confirmed DS and longitudinal follow-up >/= 3 years. Although initial onset of prolonged febrile seizures occurred in all within their first year of life (median 5.5 months), diagnosis was usually after a period of time (median 11 months). The seizures experienced were typical of those described in this condition, with tonic clonic (focal and generalised) and absences being most common (83%, n=5). DS-specific anti-epileptic drug therapy had varying success with seizure control. Global developmental delay was universal, usually becoming apparent in the 2^nd year of life.  Feeding difficulties were seen in 50% (n=3) and physical disabilities including the well recognised ataxic gait were seen in the majority (66%, n=4).  Other issues such as sleep disorders (33%, n=2), behavioural issues (66%, n=4) and impaired temperature regulation (33%, n=2) were also noted.

Conclusion

Although DS is most notable for its seizure phenotype, recognition and intervention of associated co-morbidities offers holistic care for patients and their families.