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Diagnosing patients living with Dravet syndrome can be challenging1

Patients living with Dravet syndrome may reach adulthood without a specific diagnosis. At any age, an appropriate diagnosis can lead to more targeted care1

A specific diagnosis can help set expectations and plan for future care with patients and caregivers

A specific diagnosis can help

when setting expectations and planning for future care with patients and caregivers.1

Treatment plans can be personalized

Treatment plans can be personalized

to a patient’s particular conditions.1

Access to treatment can be improved with a specific diagnosis of a patient's condition

Access to treatment can be improved

with a specific diagnosis of a patient's condition.1

Diagnosing patients with Dravet syndrome can be challenging, and patients with Dravet syndrome often go undiagnosed or can be misdiagnosed

Early presentation can be missed

as most affected individuals present as normally developing infants with febrile seizures.1,2

Normal MRI and nonspecific EEG findings are typical

in individuals living with Dravet syndrome, at onset.1

Childhood history is not always available,

which can further confound diagnosis.1

Genetic testing is a key diagnostic measure, but neither the presence nor the absence of a sodium channel gene mutation is sufficient for diagnosis. Therefore, a diagnosis should always be guided by clinical features.1,3

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Bobby, at age 41, is an EPIDIOLEX patient living with Dravet syndrome

Bobby, at age 41 | EPIDIOLEX patient living with Dravet syndrome

Signs and symptoms may vary over time, confounding diagnosis

Identifying Dravet syndrome across age groups

kids-pink

YOUNG CHILDREN

(seizures develop: ≤1 year1,2)

 adults-pink

ADOLESCENTS AND ADULTS

SEIZURE TRIGGERS

  • Typically hyperthermia1

  • May include flashing lights, visual patterns, bathing, and overexertion1

  • Less frequently: hyperthermia1

  • Exacerbated with the use of sodium channel agents1

SEIZURE TYPES

  • Typically present as prolonged generalized or hemiclonic seizures and may include myoclonic seizures in the first 2 years of life1,2

  • After age 2: myoclonic, focal, impaired awareness, and atypical absence seizures; obtundation status1

  • Seizures often evolve into status epilepticus3

  • Persisting seizures: focal and/or generalized convulsive seizures; atypical absences; myoclonic and tonic seizures1

  • Often occur nocturnally2

  • Recurrent status epilepticus and obtundation status may become less frequent/may not occur1

DEVELOPMENT & BEHAVIORAL DISORDERS

  • Normal cognitive development prior to seizure activity; cognitive deficits emerge between 18 months to 5 years1,3

  • Moderate to severe intellectual disability; slow language progression during second year of life1,3

  • Behavioral disorders: attention deficits/hyperactivity; oppositional and personality disorders; autistic traits; psychotic features2

  • Sleep disturbances1

MOTOR SYMPTOMS

  • Most affected individuals have normal gait for the first 5 years of life; some begin to develop crouched gait and hypotonia1,4

  • Walking problems, such as crouched gait, ataxia, and balance problems2,4,5

  • Intention tremor5

  • Extrapyramidal rigidity2,5

Not all patients display all symptoms—even some of these characteristics can suggest Dravet syndrome.2,3

The information provided is not intended to supersede independent clinical judgment or institutional protocols.

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