What’s more, these seizures aren’t all of the same variety. Initial seizures may be related to fevers and be of the tonic-clonic or grand mal type (those causing muscle stiffness, jerking, and unconsciousness), but other seizures often develop, including these types:
Myoclonic seizuresAbsence seizuresAtypical absence seizuresAtonic seizuresFocal aware seizuresImpaired awareness seizuresStatus epilepticus
Though therapies can help treat and prevent seizures, none can achieve complete seizure control, and there is currently no cure for Dravet syndrome, which is caused by a genetic mutation. (1) People with Dravet syndrome usually experience multiple comorbidities (concurrent conditions) and complications from the disorder.
Dravet Syndrome Issues and Comorbidities
Infants with Dravet syndrome usually develop normally — up to a point. After around age 2, they begin to slow in their intellectual development due to the seizures. Children with Dravet syndrome may exhibit these signs:
Lack of coordinationSlow language developmentHyperactivityEmotional deficits, such as difficulty relating to others (2)
As children with Dravet syndrome get older, their seizures may become more frequent and severe. Over time, they may develop several of the following comorbidities:
Sleep issues, such as insomnia and being unable to sleep through the nightMotor and coordination issues, such as a crouched gait, impaired dexterity, low muscle tone (hypotonia), loss of control of bodily movements (ataxia), and tremorsUrinary tract and bowel issues, such as changes in eating and appetite, constipation, and incontinenceGrowth, endocrine, and metabolism problems, such as an inability to properly regulate body temperature and sweating, as well as slow growthImmunity issues, such as chronic infections, allergies, frequent bronchitis, ear infections, or pneumoniaSensory issues, such as sensitivity to light and patterns (which may cause seizures), frequent blinking, and hearing disordersCommunication issues, such as delayed language and ability to understand speechCharacteristics of autism, such as obsessions, acting overly familiar with strangers, and difficulties with transitionsBlood-related issues, such as nutritional deficiencies (vitamin D), low platelet counts, and iron deficiencyPsychiatric issues, such as attention deficit disorder or attention deficit hyperactivity disorder, aggression and irritability, and impulsivenessDysautonomia or problems with the autonomous nervous system, which can affect the function of various organs, including the heart, bladder, and sweat glands (1,3,4,5)
Additionally, the majority of people with Dravet syndrome have the disease due to a mutation in the SCN1A gene, which may cause other problems, such as precocious or delayed puberty, heart abnormalities, and abnormally slow heart rate (bradycardia). (6)
Dravet Syndrome Complications
Though the decline in cognitive function stabilizes with age in some people with Dravet syndrome, most teenagers and adults with the disorder have a mild to profound intellectual disability and require 24-hour supervision. This disability, along with the seizures and other comorbidities, can also cause them to suffer from severe anxiety and social isolation, which inevitably affects the quality of life of caregivers as well. (5,7) The gait and balance problems associated with Dravet syndrome can result in falls. These falls, along with an increased risk of osteopenia (low bone mass), may cause bones to break. One survey study found that 70 percent of respondents use a wheelchair or an adaptive stroller some of the time. (6) Seizures may cause drowning if they occur while a person is in or near water. (5) The seizures can also increase the risk of pulmonary complications, such as aspiration pneumonia, which occurs when you inhale food, stomach acid, or saliva into your lungs, potentially resulting in sepsis. (8)
Dravet Syndrome Mortality
One potentially fatal issue with Dravet syndrome is status epilepticus, which occurs when a seizure lasts for more than 5 minutes or when seizures occur in succession such that the person doesn’t recover between them. Status epilepticus can result in acute encephalopathy, a type of abrupt brain damage or malfunction, and cerebral edema (excess fluid in the brain) with neuronal damage. (9,10) Status epilepticus is the second most common cause of death in people with Dravet syndrome. (11) But the most fatal complication of Dravet syndrome is the aptly named sudden unexpected death in epilepsy (SUDEP). More people with Dravet syndrome die from SUDEP than any other complication, and SUDEP is the leading cause of death in people with uncontrolled epilepsy. (12) In all, 15 to 20 percent of people with Dravet syndrome die from SUDEP, status epilepticus, seizure-related accidents, and infections. (5)
What to Do If Your Loved One Has Dravet Syndrome
If you have a loved one, particularly a child, with Dravet syndrome, consider taking these actions:
Finding an experienced child neurologistClosely monitoring and journaling your child’s seizures, including what is occurring and how long the seizure lasts, as well as any illnesses or potential triggers your child may haveVideo recording the seizures, if possible, as this will make it easier for a neurologist to determine what type of seizures are occurringMonitoring your child’s developmental milestones and discussing them with a developmental psychologistAvoiding isolating your child, which may further stunt development — discuss having a one-on-one assistant with your child’s school or preschoolDeveloping — with a neurologist’s assistance — an emergency seizure management plan that covers rescue medications, ambulatory guidance, and what IV drugs to avoid in the emergency room should your child experience a prolonged seizure or status epilepticusMaking sure you are aware of your child’s triggers, which may include flashing lights, lack of sleep, and warm temperatures, and doing your best to help your child avoid these triggersPreventing your child from being alone near bodies of water, including the bathtubLearning how to manage various types of illnesses in coordination with your child’s medical team (13)
Caregiver Concerns and Challenges
Dravet syndrome can be a challenging condition, not only for people with the disorder but also their caregivers. People who are providing care for those with Dravet syndrome are most concerned with seizure control overall, followed by speech and communication issues, the impact on siblings, and cognitive impairment. (6) Finding specialty care, particularly speech therapy and cognitive neurology, early on in the course of the syndrome may help alleviate caregivers’ concerns regarding communication and cognitive issues. People with Dravet syndrome may experience photosensitivity, temperature dysregulation, and behavioral issues, so siblings and other family members may develop emotional issues due to the family’s inability to participate in certain outings and activities. (6) Because of this familial impact, it’s important for caregivers to nurture their relationships with other loved ones, not just those suffering from Dravet syndrome. (13) Moreover, it’s vital that caregivers take care of themselves, as well. The Epilepsy & Behavior report found that nearly two-thirds of caregivers in the study suffered from depression but only about a quarter of these people sought therapy. (6)
