Dravet syndrome: A quick transition guide for the adult neurologist

Andrade, Danielle M.; Berg, Anne T.; Hood, Veronica; Knupp, Kelly G.; Koh, Sookyong; Laux, Linda; Meskis, Mary Anne; Miller, Ian; Perry, Μ. Scott; Scheffer, Ingrid E.; Sullivan, Joseph; Villas, Nicole; Wirrell, Elaine

doi:10.1016/j.eplepsyres.2021.106743

Cited by 13 publications

(16 citation statements)

References 60 publications

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“…Given the associations between vaccines, fever, and increased seizures in many patients with DS, it is not uncommon for physicians to recommend additional preventative measures such as antipyretic agents and bridge ASMs surrounding vaccination. 20 , 21 Antipyretics were given to 25 (21%) individuals during the 4 h before D1 and to 20 (21%) individuals before D2. Following the COVID‐19 vaccine, antipyretics were given to 71 (59%) individuals after D1 and to 74 (79%) individuals after D2.…”

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Regardless of the specific mechanism, decisions around vaccination are particularly complex for caregivers of individuals with DS. The expert consensus remains in support of vaccination in individuals with DS; however, prophylactic measures including the use of antipyretics and bridge antiseizure medications (ASMs) are often recommended 20,21 …”

Section: Introductionmentioning

confidence: 99%

“…The expert consensus remains in support of vaccination in individuals with DS; however, prophylactic measures including the use of antipyretics and bridge antiseizure medications (ASMs) are often recommended. 20,21 The COVID-19 pandemic has created significant levels of burden and psychosocial stressors on families living with DS, 22 which are now amplified by the decisionmaking process regarding COVID-19 vaccination for individuals with DS who may have a prior history of seizures proximal to vaccination. [10][11][12][13][14][15][16][17][18][19] A recent study reported positive outcomes for 15 individuals with DS in the UK surrounding COVID-19 vaccination with only 20% reporting an increase in seizure activity.…”

Section: Introductionmentioning

confidence: 99%

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COVID‐19 vaccine in patients with Dravet syndrome: Observations and real‐world experiences

et al. 2022

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Objective Vaccination against the SARS‐CoV‐2 virus is a primary tool to combat the COVID‐19 pandemic. However, vaccination is a common seizure trigger in individuals with Dravet syndrome (DS). Information surrounding COVID‐19 vaccine side effects in patients with DS would aid caregivers and providers in decisions for and management of COVID‐19 vaccination. Methods A survey was emailed to the Dravet Syndrome Foundation's Family Network and posted to the Dravet Parent & Caregiver Support Group on Facebook between May and August 2021. Deidentified information obtained included demographics and vaccination status for individuals with DS. Vaccine type, side effects, preventative measures, and changes in seizure activity following COVID‐19 vaccination were recorded. For unvaccinated individuals, caregivers were asked about intent to vaccinate and reasons for their decision. Results Of 278 survey responses, 120 represented vaccinated individuals with DS (median age = 19.5 years), with 50% reporting no side effects from COVID‐19 vaccination. Increased seizures following COVID‐19 vaccination were reported in 16 individuals, but none had status epilepticus. Of the 158 individuals who had not received a COVID‐19 vaccination, 37 were older than 12 years (i.e., eligible at time of study), and only six of these caregivers indicated intent to seek vaccination. The remaining 121 responses were caregivers to children younger than 12 years, 60 of whom indicated they would not seek COVID‐19 vaccination when their child with DS became eligible. Reasons for vaccine hesitancy were fear of increased seizure activity and concerns about vaccine safety. Significance These results indicate COVID‐19 vaccination is well tolerated by individuals with DS. One main reason for vaccine hesitancy was fear of increased seizure activity, which occurred in only 13% of vaccinated individuals, and none had status epilepticus. This study provides critical and reassuring insights for caregivers and health care providers making decisions about the safety of COVID‐19 vaccinations for individuals with DS.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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COVID‐19 vaccine in patients with Dravet syndrome: Observations and real‐world experiences

et al. 2022

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“…5 Children with DS have refractory seizures and developmental delay with impaired intellectual development, and because DS is a chronic, refractory, lifelong disorder that persists into adulthood, adult neurologists eventually care for people with DS. 6 The neurologic manifestations of DS in adults, however, are not well-studied.…”

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confidence: 99%

Broadening Neurologic Manifestations in Adult Patients With Dravet Syndrome

Tsuji

2022

Neurology

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Dravet syndrome (DS), originally described by Charlotte Dravet in 1978,1 is a rare neurologic disorder characterized by a refractory, developmental, and epileptic encephalopathy with onset in the first year of life.2 The reported incidence is between 1 in 15,000 and 1 in 41,000 children.3,4 It is caused by a heterozygous pathogenic variant in the SCN1A gene that codes for the alpha subunit of the voltage-gated sodium channel Nav1.1.5 Children with DS have refractory seizures and developmental delay with impaired intellectual development, and because DS is a chronic, refractory, lifelong disorder that persists into adulthood, adult neurologists eventually care for people with DS.6 The neurologic manifestations of DS in adults, however, are not well-studied.

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Navigating Dravet syndrome in Spain: A cross‐sectional study of diagnosis, management, and care coordination

Solaz,

Cardenal‐Muñoz,

Muñoz

et al. 2024

Epilepsia Open

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ObjectivesDravet syndrome (DS) is a rare form of refractory epilepsy that begins in the first year of life. Approximately 85% of patients have a mutation in the SCN1A gene, which encodes a voltage‐gated sodium channel. The main objective of the present work was to assess the degree of knowledge of DS among Spanish primary care (PC) professionals, the communication flow between them and the pediatric neurologists (PNs), and the services available and resources offered to patients in Spain when searching for a diagnosis and adequate treatment.MethodsTwo anonymized online surveys on DS diagnosis and patient management in PC were conducted with Spanish PC pediatricians (PCPs) and caregivers of DS patients in Spain.ResultsMost PCPs are aware of genetic epilepsy but lack full knowledge of DS and patient advocacy groups (PAGs). Access to epilepsy treatments varies among regions, with many referrals to hospitals and pediatric neurologists. Diagnosis is often delayed, with misdiagnoses and frequent emergency room (ER) visits. Treatment involves multiple drugs, and sodium channel blockers are used, which are contraindicated in DS treatment. Improved training, resources, and communication are needed for early diagnosis.SignificanceTo improve the care and treatment of DS patients in Spain, early diagnosis is required and, possibly, specific efforts aimed at identifying patients in adulthood, generating socio‐sanitary structures that integrate social and health services to provide comprehensive care, taking into account the different features and comorbidities of the disease.Plain Language SummaryDravet syndrome (DS) is a form of genetic epilepsy that starts within the first year of life. We present a study showing that, while family doctors are aware of genetic epilepsies, many don't have a complete understanding of DS. Unfortunately, getting the right diagnosis can take a long time, leading to unnecessary visits to the emergency room. Patients often need several medications, and sometimes they're given drugs that aren't recommended for DS. The takeaway is that training for doctors, more resources, and improved communication could help creating better healthcare systems and therefore give easier access to the right therapies.

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Dravet syndrome: A quick transition guide for the adult neurologist

Cited by 13 publications

References 60 publications

COVID‐19 vaccine in patients with Dravet syndrome: Observations and real‐world experiences

COVID‐19 vaccine in patients with Dravet syndrome: Observations and real‐world experiences

Broadening Neurologic Manifestations in Adult Patients With Dravet Syndrome

Navigating Dravet syndrome in Spain: A cross‐sectional study of diagnosis, management, and care coordination

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