Adult Dravet Patient Community FAQs
You have come to the right place. The Dravet Syndrome Foundation (DSF) website has information about the diagnosis, expert consensus on treatment options, current research opportunities, and family resources. Our online support group of over 2500 parents and caregivers is a wealth of information, and our DSF Family Network can connect you with families near you.
Yes. For most patients, seizures remain frequent and uncontrolled through adulthood. While studies consistently show severity and frequency may decrease compared to childhood (3, 4), Dravet syndrome is a lifelong disorder that is not outgrown, and our community of caregivers of adult patients notes that a small decrease in seizure frequency should not be misinterpreted as seizure control.
While the adults described in the current literature are severely affected, it should be noted the diagnosis is relatively new. Correlation between this type of epilepsy and SCN1A mutations was only discovered in 2001-2002. It is everyone’s hope that earlier diagnosis, early initiation of suitable medications, and improved treatments will lead to better outcomes in adult patients.
In a survey of 92 caregivers of adult patients in 2018, cognition, SUDEP, sleep disturbance, seizures, and behavior were the most commonly reported concerns of the caregivers. Other co-morbidities include declining mobility, gastrointestinal GI issues, and dysautonomia (inability to regulate autonomic functions such as temperature, heart rate, digestion, urination and respiration.)
Behavioral issues are common in both children and adults with Dravet syndrome and their severity can present as a spectrum. Frequent issues in children include inattention, perseveration, impulse control, and ADD/ADHD symptoms (1) as well as agitation and difficulty with transitions. In adults, these issues may persist or may become more aligned with Autism Spectrum characteristics (2) Different techniques for managing these behaviors may be necessary as patients grow in size.
Kyphosis (curved back), kyphoscoliosis (curved back in combination with scoliosis, an “S” shape of the spine), claw foot (a characteristic bending of the toe joints), and flat feet are the most common orthopedic issues in adult patients with Dravet syndrome (3). These orthopedic issues may present with a “crouch gait” or altered movement when walking that is not caused by long-term anti-seizure medication use (6).
Many of the pediatric epileptologists who specialize in Dravet syndrome will follow their patients into early adulthood. However, there are few adult neurologists in the U.S. who have experience treating patients with Dravet syndrome. DSF has been working with their Medical Advisory Board to raise awareness of the need for knowledgeable adult neurologists who understand the complexities of care for older patients with Dravet syndrome.
There is no reliable estimation of life expectancy in Dravet syndrome. When the syndrome was first described in 1978, the focus was on children. However, as neurologists around the world have begun to recognize the characteristic clinical history of their patients with Dravet syndrome, more adults have been diagnosed. In 1992, studies followed patients as old as 27. By 2010, literature reported patients aged 42, and in 2018 literature on adults significantly older than 40 years has emerged. (3-5) Meanwhile, children with Dravet syndrome have grown into adulthood, creating a richer landscape of adult patients than ever before.
Transition of care from a pediatric neurologist to an adult neurologist can be difficult and uncomfortable for the patient and caregiver. Some organizations, such as the Child Neurology Foundation, have begun to tackle this issue and provide helpful tips, which can be found at this link.
DSF is working on this topic and hopes to be able to share more resources as they are developed.
Many of the clinical trials for Dravet syndrome focus on the pediatric population simply because it is the most well-characterized, populous age group. However, some clinical trials focus specifically on adult patients, and some adult expanded access or compassionate use programs supplement concurrent pediatric studies. You can find more information about current clinical trials on the DSF Participate in Research page.
Connecting with other families who have traveled this road is essential to understanding Dravet syndrome, coping with the challenges it brings, and being aware of out-of-the-box treatments or strategies. We encourage you to join our private online Caregiver Support Group, as well as our DSF Family Network. The online support group can help you with immediate questions, while the DSF Family Network can help you connect with families local to you. There may be adults nearby that you may not otherwise know!
1. Kelly G Knupp, Sharon Scarbro, Greta Wilkening, Elizabeth JuarezColunga, Allison Kempe, Amanda Dempsey, Parental Perception of Co-Morbidities in Children with Dravet Syndrome, Pediatric Neurology (2017), http://dx.doi.org/doi:10.1016/j.pediatrneurol.2017.06.008.
2. Berkvens JJ, Veugen I, Veendrick-Meekes MJ, Snoeijen-Schouwenaars FM, Schelhaas HJ, Willemsen MH, Tan IY, Aldenkamp AP. Autism and behavior in adult patients with Dravet syndrome (DS). Epilepsy Behav. 2015 Jun;47:11-6. doi: 10.1016/j.yebeh.2015.04.057
3. Genton, P., Velizarova, R., & Dravet, C. (2011). Dravet syndrome: The long-term outcome. Epilepsia, 52, 44–49. doi:10.1111/j.1528-1167.2011.03001.x
4. Chiron C, Helias M, Kaminska A, Laroche C, de Toffol B, Dulac O, Nabbout R, An I. Do children with Dravet syndrome continue to benefit from stiripentol for long through adulthood? Epilepsia. 2018 Sep;59(9):1705-1717. doi: 10.1111/epi.14536.
5. Lagae, L., Brambilla, I., Mingorance, A., Gibson, E., & Battersby, A. (2017). Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. Developmental Medicine & Child Neurology, 60(1), 63–72. doi:10.1111/dmcn.13591
6. Aljaafari D, Fasano A, Nascimento FA, Lang AE, Andrade DM. Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. Epilepsia. 2017 Mar;58(3):e44-e48. doi: 10.1111/epi.13692.