Dravet Syndrome (DS)

Dravet syndrome (DS) is a rare form of severe epilepsy that often emerges in a patient’s first year of life and continues through adulthood. It is characterized by intractable seizures that contribute to developmental delay and cognitive impairment.¹

Individuals affected by DS have unique, complex medical needs that require the support of a multidisciplinary care team. Because of the rarity of DS, it may be beneficial to seek care at a specialized medical center that provides comprehensive care. The Dravet Syndrome Foundation has provided a list of comprehensive care centers located in the United States. When all care team providers are located in one center, communication and collaboration is easier, leading to better patient results. A central location for care is also more practical and accessible for patients and their caregivers.²  

A care team of specialists treating patients with DS may include pediatricians, pediatric neurologists or epileptologists, neurosurgeons, orthopedists, cardiologists, sleep specialists, geneticists, developmental neuropsychologists, ketogenic dietitians, social workers, therapists, and other health care providers. 

Pediatric Neurologist/Epileptologist

Pediatric neurologists, and especially epileptologists, specialize in the diagnosis and treatment of childhood epilepsy and various types of seizures. Because DS first manifests in infancy, it’s best to consult a pediatric neurologist or epileptologist for the initial diagnosis and treatment in childhood years.³  

Children with DS frequently experience many types of seizures that are refractory to treatment with antiseizure medications (ASMs). To reduce the intensity and frequency of these seizures, ASM combination therapy is required. Because each child’s response to various therapies will be different, pediatric epileptologists must find a combination of medications, individualized according to each child’s responsiveness, that is effective. This process can be challenging.¹ 

Read more about DS therapies

Pediatrician

Pediatricians are often the first clinicians to observe signs and symptoms of the condition and refer patients to specialists, including pediatric neurologists or epileptologists. Given that DS is a lifelong condition, when patients with DS reach adolescence and young adulthood, a thoughtful transition of care from pediatricians and pediatric neurology teams to adult care teams is necessary to maintain the patient’s continuity and quality of care.⁴

Neurosurgeon

When a child’s seizures remain unresponsive to multiple ASM combination therapies, pediatric neurologists may recommend neurosurgery as an alternative treatment.⁵ 

Neurosurgeons with extensive knowledge of DS should be consulted for treatments such as vagus nerve stimulator (VNS) implantation, temporal lobectomy, and corpus callosotomy. Whereas results of VNS have been variable, research suggests that DS is often less responsive to the latter 2 surgical options. These surgeries are typically more effective for patients with partial or focal seizures. Because patients with DS often have many types of seizures, including generalized onset seizures, it may be impossible to isolate a single, triggering area of the brain.⁵

Orthopedist

Orthopedists treat injuries to the bones, soft tissues, muscles, and joints.⁶  They are important members of the team caring for individuals with DS. Orthopedic conditions and impaired growth are common in children with DS, and treatment requires the expertise of an orthopedist. Individuals with uncontrolled seizures are also more likely to sustain injuries during seizures that require orthopedic treatment. Nearly one-third of patients with DS have been assessed and treated by an orthopedist.⁷

Read more about DS clinical features

Cardiologist

Patients with DS are at increased risk for cardiac irregularities, including tachycardia (14%), prolonged QT interval and other rhythm abnormalities (9%), bradycardia (5%), and structural abnormalities (4.6%) such as atrial septal defect, pulmonary stenosis, bicuspid aortic valve abnormalities, and tricuspid atresia. ⁷ Peri-ictal lengthening of the QT interval is relatively common in individuals with DS.⁸ 

Cardiologists can also test and monitor for cardiac abnormalities, as some hypotheses suggest that sudden unexplained death in epilepsy (SUDEP) may be linked to cardiorespiratory dysfunction induced by generalized tonic-clonic seizure.⁹ 

A 2013 murine study showed that SUDEP in DS was caused by parasympathetic hyperactivity immediately following a tonic-clonic seizure, which resulted in lethal bradycardia and abnormal electrical impulses to the ventricles.¹⁰ When a patient with DS has postictal bradycardia, implantation of a pacemaker by a cardiologist may be necessary to prevent SUDEP.¹⁰ 

Read more about DS complications

Geneticist/Genetic Counselor

Genetic testing can assess whether mutations in certain genes are responsible for DS. Genetic counselors can review the results of genetic tests with patients and their caregivers and encourage other immediate family members to undergo testing.⁷

Mutations in a variety of genes have been associated with DS, including SCN1A, SCN1B, SCN2A, GABRA1, GABRG2, and PCDH19.¹¹ Approximately 80% of children with DS have SCN1A mutations; however, mutations in this gene are not exclusive to DS and may also contribute to milder disorders, such as familial hemiplegic migraine.¹ 

DS can be inherited in an autosomal dominant pattern. However, many children with DS do not have a family history of the condition.¹¹

Read about DS genetics

Sleep Specialist

Nocturnal seizures, insomnia, and premature awakening often disrupt sleep in patients with DS. Approximately one-fourth of patients with the condition consult a sleep specialist. Management of sleep disturbances can improve overall quality of life and health in patients with DS.⁷

Developmental Neuropsychologist

Because cognitive impairment, developmental delay, and behavioral challenges are clinical features of Dravet syndrome, it can be helpful or necessary to meet with a developmental neuropsychologist who can evaluate and assess the severity of impairments. Parents may schedule this consultation before enrollment in school to determine how impairment or delay can affect the child’s learning and growth.¹ A child’s neuropsychologist, caregivers, and school can then collaborate to develop an Individualized Education Plan (IEP) or a 504 program to accommodate special needs.¹ 

A developmental neuropsychologist often uses testing to help develop treatment plans and address behavioral problems. The neuropsychologist may suggest additional occupational therapy, cognitive therapy, or pharmacotherapy.¹²

Dietitian

Dietitians, especially those working in Keto clinics, can educate patients and caregivers about the ketogenic diet and help develop a plan for diet modification, including advice on introduction, transition, and management. Studies on both the classical ketogenic diet and the modified Atkins diet in individuals with a refractory form of epilepsy such as DS have a shown a significant reduction in seizure frequency.¹³

Read more about DS diet and nutrition

Therapists 

Speech pathologists/therapists, occupational therapists, and physical therapists provide ongoing support for the challenges of children and adults with DS according to their developmental status and needs.^7,14 

Hypotonia, hypertonia, hypermobile joints, pes planus, pes valgus, oral-motor dysfunction, gait disturbances, and ataxia are frequent comorbidities of DS that can benefit from the support of a therapist.⁷ 

Social Worker

The care of children and adults with DS involves significant resources and attention. Social workers assist the parents and caregivers of individuals with DS in identifying sources of support, resources, and respite care.¹⁵

Other Health Care Providers

Gastroenterologists, allergists, immunologists, neuro-ophthalmologists, special needs dentists, endocrinologists, metabolic specialists, behavioral specialists, and otolaryngologists may also be involved in the care of individuals with DS.⁷

References

1. Dravet syndrome. Cleveland Clinic. Accessed March 10, 2023.
2. Comprehensive care centers. Dravet Syndrome Foundation. Accessed March 10, 2023.
3. Childhood seizures and epilepsy. DukeHealth. Accessed March 10, 2023.
4. Boyce DM, Devinsky O, Meskis MA. Barriers to transition from pediatric to adult care for patients with Dravet syndrome: a focus group study of caregivers. Epilepsy Behav. 2020;109:107096. doi:10.1016/j.yebeh.2020.107096
5. Surgery in Dravet syndrome. Dravet Syndrome Foundation. Accessed March 10, 2023.
6. Orthopedist. Cleveland Clinic. Accessed March 10, 2023.
7. Skluzacek JV, Watts KP, Parsy O, Wical B, Camfield P. Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. Epilepsia. 2011;52(s2):95-101. doi:10.1111/j.1528-1167.2011.03012.x
8. Shmuely S, Surges R, Helling RM, et al. Cardiac arrhythmias in Dravet syndrome: an observational multicenter study. Ann Clin Transl Neurol. 2020;7(4):462-473. doi:10.1002/acn3.51017
9. Ryvlin P, Nashef L, Lhatoo S, et al. Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. Lancet Neurol. 2013;12(10):966-977. doi.org/10.1016/S1474-4422(13)70214-X
10. Kearney J. Sudden unexpected death in Dravet syndrome. Epilepsy Curr. 2013;13(6):264-265. doi:10.5698/1535-7597-13.6.264
11. Dravet syndrome. GARD. Genetic and Rare Diseases Information Center. Accessed March 10, 2023.
12. Neuropsychological evaluation FAQ. UNC School of Medicine Department of Neurology. Accessed March 10, 2023. 
13. Caraballo RH, Cersósimo RO, Sakr D, Cresta A, Escobal N, Fejerman N. Ketogenic diet in patients with Dravet syndrome. Epilepsia. 2005;46(9):1539-1544. doi:10.1111/j.1528-1167.2005.05705.x
14. What is Dravet syndrome? | Comorbidities. Dravet Syndrome Foundation. Accessed March 10, 2023.
15. Granata T. Comprehensive care of children with Dravet syndrome. Epilepsia. 2011;52(s2):90-94. doi:10.1111/j.1528-1167.2011.03011.x

Reviewed by Kyle Habet, MD, on 3/22/2023.

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Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT

Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT is a freelance medical writer and Doctor of Physical Therapy from Maryland. She has expertise in the therapeutic areas of orthopedics, neurology, chronic pain, gastrointestinal dysfunctions, and rare diseases especially Ehlers Danlos Syndrome.