Dravet Syndrome – Clinical and Developmental Characteristics: A Case Report

Aleksandra Đurić-Zdravković; Aleksandra Pavlović

doi:10.33700/jhrs.3.2.122

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Open Access

Authors

Aleksandra Đurić-Zdravković University of Belgrade – Faculty of Special Education and Rehabilitation https://orcid.org/0000-0003-0115-2666
Aleksandra Pavlović University of Belgrade – Faculty of Special Education and Rehabilitation, Belgrade https://orcid.org/0000-0002-5987-9828

https://doi.org/10.33700/jhrs.3.2.122

Keywords:

Dravet syndrome, epilepsy, autism spectrum disorder, developmental delay

Abstract

Introduction: Dravet syndrome is a rare, genetically determined epilepsy and epileptic encephalopathy primarily caused by a loss-of-function mutation in the SCN1A gene, also associated with autism spectrum disorder. Follow-ing birth, patients have typical neurodevelopment, but the regression of cognitive, motor and speech abilities become noticeable after the onset of seizures.
Aims and case report: We report on the case of a five-year-old girl with characteristic clinical features of Dravet syndrome, detailing her basic clinical and developmental characteristics, disease course and treatment. The first seizure occured at four months of age, coinciding with increased body temperature, and by the end of first year she developed recurrent seizures. While the baseline electroencephagram was nomal, follow-up examinations revealed continuous high-amplitude and sharp, multifocal spike waves. During her second year of life, significant delay in psychomotor development became apparent. The Bayley-III scale was used to assess psychomotor de-velopment in cognition area, comprehension and quality of speech, as well as fine and gross motor skills. The results indicated that her cognitive abilities corresponded to those of an eight-month-old child, while her motor skills were at the level of an 18-month-old. Notable gait impairment was observed, with a wide-based crouch gait. The patient was also diagnosed with an autism spectrum disorder.
Conclusion: Although rare, Dravet syndrome is an important differential diagnosis in children presenting with early-onset epilepsy and progressive developmental delays. It is essential to evaluate patients for common comor-bidities, such as autism, gait disorders, and intellectual disability, important determinants of patients’ quality of life.

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