Category: Dravet Syndrome - Part 2

Case Study: Dravet Syndrome 20 yr. old patient

Dravet syndrome Case Study:  20 year old patient give Stiripentol, on alternative medications. This is a case study reflecting a Dravet syndrome consult by H Davies, PharmD to a pediatric neurologist in the US.  Name of child is changed.  This factual case is for learning purposes only.   Any changes to medication should be under the supervision […]

My Child Has Dravet – Now What?

My Child Has Dravet syndrome – What Next? 

  • Find a child neurologist that has experience in Dravet syndrome.  Check out the Dravet syndrome article page with links to articles.  The physicians listed are experienced in treating Dravet syndrome.    To locate an epilepsy center in the US registered with the National Association of Epilepsy Centers, go to www.naec-epilepsy.org.
  • It will be helpful if you can record your child’s seizure activity with a video recorder to show the child neurologist.  It is often hard to describe seizure types, an epileptologist can most accurately determine what type of seizure your child is having is through a video EEG in an epilepsy monitoring unit (EMU).  Seizure typing is important for choosing anti-epileptic drug therapy.  Having a video of your child’s seizures may help your child’s neurologist if your child does not have seizure activity while in the EMU.  It will also be helpful to keep a journal of seizure activity, medication changes, illness, triggers, etc.  You may choose to write this information in a notebook or utilize online seizure tracking software through www.seizuretracker.com or  www.myepilepsydiary.com.
  •  Avoid drugs that have evidence of worsening seizures in Dravet syndrome (See Understanding Dravet syndrome)
  • Advocate to maximize seizure control while balancing medication side effects – this is hard in drug resistant or intractable epilepsy.  Ask your child’s neurologist about clinical studies that may be available, watch the ICE website for new treatment options including dietary options and Orphan drugs.  Small seizures are still seizures and affect a child’s ability to remember and learn.
  • Follow child’s developmental milestones and enlist the help of a developmental pediatrician or psychologist through  neuropsychological testing.  (for more information, see Resources and www.pbs.org/wholechild/abc)
  • Contact your local Infant/Toddler program within your public school system for developmental testing, monitoring, and services if your child is under three years old.  Private testing and monitoring is also an option, discuss referral by your child’s pediatrician or neurologist.  By having an early neuropsychological test and regular monitoring, you can watch for milestone development and delay.  The testing will determine if  or when your child needs speech, occupational, physical, or behavioral therapy.  Children with Dravet syndrome often have low muscle tone and an abnormal gait.  The use of orthotics prescribed by a physical therapist may prevent painful changes in bones of the feet and tendons that lead to chronic pain in the teen and adult years.   (see Orthotics article under Resources)
  • Parents are often afraid to send a Dravet child to preschool because of fear of the child having a seizure and/or fear that the child will continue to get infections from being exposed to other children.  While these fears are real potentials,  studies have proven that exposing children to an “enriched environment” where they can learn from peers and socialized is better for the child’s intellectual and social development than keeping the child in isolation.  Discuss having a one-one-one assistant for your child with your public school officers so that the child may enjoy the preschool experience and so that you may feel a little better about allowing your child to have the experience.
  • If your child is three or older, discuss utilizing the public school system for neuropsychological testing as a baseline and for monitoring so that if a learning problem arises, your child can have an Individualized Education Plan (IEP) to enhance his learning and optimize his education.  Private testing and monitoring is also an option, discuss referral by your child’s pediatrician or neurologist.  The testing will determine if or when your child needs speech, occupational, physical, or behavioral therapy as well as any accommodations in the classroom (see Resources).   Discuss having a one-one-one assistant for your child with your public school officers.
  • Most children with Dravet syndrome have  a history of prolonged seizures (> 5 minutes) or clusters of seizures (more than one seizure in 12 hours).  Have a plan for seizure emergencies including a prescription for a medication that may stop seizure at home (known as a rescue medication) such as rectal diazepam (Diastat®) or buccal midazolam (Epistatus®-UK only).  It is helpful to have your child’s neurologist type the emergency seizure management plan including when to give the rescue medication, when to call an ambulance, and any intravenous anti-epileptic drugs that should be avoided at the emergency room if known and print it on office or hospital stationary and sign it.  If your child has prolonged seizures frequently, the neurologist may wish to prescribe oxygen and a oxygenation monitor (pulse oximeter).  (see Drug Information)
  •  A seizure should not last  longer than one hour.  (see status epilepticus under Epilepsy)  If it is questionable whether the seizure has stopped in the hospital (i.e., the child has had episodes of non-convulsive status epilepticus), ask the doctor if an EEG is appropriate to determine if seizure has stopped.
  • Discuss having a sick plan for your child with his neurologist.  Sometimes doctors recommend additional or different types of medication to help get a child through an illness such as a cold or infection.  Keep recommendations for fever reducers updated as child’s weight changes.  (see Drug Information)
  • Make sure all caregivers and teachers understand what to do in an emergency or if the child is sick.  It is often hard for parents to leave their child in someone else’s care because of fear.  It is important to find respite care and take care of yourselves as caregivers.  Discuss options for respite care with a hospital social worker, an insurance case manager, your pediatrician, or your neurologist.
  •  Dravet children are often very sensitive to heat, even modest temperature elevations.  Make sure everyone knows to keep the child cool and not overdressed.  Order a cooling vest at www.coolingapparel.com for your child’s heat intolerance.  Polarized, blue tinted sunglasses may prevent photosensitivity induced seizures, especially on car rides.  Adaptable strollers are useful in preventing a child from getting overheated or too tired and can be ordered through your child’s physical therapist or neurologist (most insurers will cover – see Resources for template letter).  Oversized car seats are useful for bigger children who like to free themselves in the car.  Some insurance companies will pay for this and seats can be ordered through your child’s physical therapist.  If your insurer will not pay, you can get an oversized car seat from Britax for $279.00 http://www.britaxusa.com/car-seats/frontier-85
  • Do not leave child unattended in the bathroom or swimming pool in case seizure occurs. Children with Dravet syndrome are often “fearless” and need to be watched so they do not injure themselves, accidently fall from heights, or dart in front of a vehicle.  Your child’s neurologist, physical therapist, or teacher may recommend a protective helmet to prevent head injuries from falls that may occur during seizures.  A couple of websites that sell protective seizure helmets are www.danmarproducts.com and www.plument.com. If your child has atonic “head drop” seizures or other seizure types in which he hits his head on a table, you may wish to purchase a protective mat designed for these seizure by a mother of a son with epilepsy at www.seizuresupport.com.
  • Don’t forget about your other children and your spouse.  Having a child with a chronic illness is hard on family relationships and on the sibling.  Family counselors are trained to help families deal with children with chronic illness. Programs are available across the country for siblings and families.  (see Resources)

International Ion Channel Registry

What is the purpose of this registry?

The International Ion Channel Epilepsy Patient  Registry is a collaborative effort by the University of Michigan Department of Neurology and the Brain Institute at Miami Children’s Hospital to collect information from patients with ion channel epilepsies, beginning with Dravet syndrome  (SMEI)* and related ion channel epilepsies (such as GEFS+, ICE-GTC, EMRF, or SMEB)*.  The aim of the Registry is to collect data on as many patients as possible that will be analyzed by researchers and doctors around the world so they can better understand the Dravet syndrome spectrum and accelerate research.  The Registry will also serve as a resource  for researchers looking for patients who meet the criteria for clinical trials, and Registry participants will be contacted if eligible for enrollment.  Funding for the Registry will be provided by the Dravet Syndrome Foundation and Ion Channel  Epilepsy  (Intractable Childhood Epilepsy) Alliance over the life of the project.
*Please watch this website for more information about the launch of this registry!

Dravet syndrome Case Study

Dravet syndrome Pharmacotherapy Consultation S:  Per mother:  “My child currently weight 42 lbs, we tried the keto diet in winter – spring ’06 with no change in seizure control.  The seizures he has been having recently are a combination of eye fluttering, chin tucking in to chest, drooling, with occasional myoclonics.  He displays this activity for […]

Dravet syndrome as Presented to NORD

Dravet syndrome Harriet Davies, PharmD written for:  National Organization for Rare Diseases March 2009 Synonyms of Dravet syndrome Severe Myoclonic Epilepsy in Infancy (SMEI) Polymorphic Epilepsy in Infancy (PMEI) Epilepsy with polymorphic seizures

Stop the Status

Improving Outcomes in Pediatric Epilepsy Syndromes Stop the Status Improving OUtcomes in Pediatric Epilepsy Syndromes Overview – Seizures and Epilepsy Syndromes – Seizure Emergencies – Febrile Seizures

Vision 20/20 Task Force

ICE Epilepsy Alliance is a member of the American Epilepsy Society’s Vision 20/20 Task Force, a group of advocacy groups committed to improve the lives of patients with epilepsy. At the request of the Department of Health and Human Services Office of the Assistant Secretary for Planning and Evaluation, the National Institutes of Health, and […]

Case Study SUDEP with Dravet

A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation *Franc¸ois Le Gal, yChristian M. Korff, *Christine Monso-Hinard, zMichael T. Mund, *Michael Morris, *xAlain Malafosse, and {Thomas Schmitt-Mechelke *Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; yPediatric Neurology, Pediatric Specialties Service, Child and Adolescent Department, University Hospitals of Geneva, Geneva, Switzerland; zInstitute […]

Understanding Dravet Syndrome

The Dravet syndrome Spectrum Introduction Sodium channel related seizure disorders encompass a spectrum that ranges from simple febrile seizures (FS) and genetic epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome (Ds) at the severe end. There are currently 359 SCN1A disease-causing mutations reported in the literature. Recent discovery of the […]