Epilepsy Syndromes

Epilepsy Syndromes
With files and information from Gregory L. Holmes, MD

There are many people who live with epilepsy that were diagnosed with simply that - epilepsy. However there other people who are diagnosed with an epilepsy syndrome rather than epilepsy. Most of the following syndromes are diagnosed in childhood, while people who are diagnosed in adulthood will tend to receive diagnoses such as temporal lobe epilepsy, frontal lobe epilepsy or idiopathic generalized epilepsy.

The following is a definition of epilepsy syndromes from Epilepsy.com:

When a disorder is defined by a characteristic group of features that usually occur together, it is called a syndrome. These features may include symptoms, which are problems that the patient will notice. They also may include signs, which are things that the doctor will find during the examination or with laboratory tests. Doctors and other health care professionals often use syndromes to describe a person's epilepsy.
Epilepsy syndromes are defined by a cluster of features. These features may include:
• The type or types of seizures
• The age at which the seizures begin
• The causes of the seizures
• Whether the seizures are inherited
• The part of the brain involved
• Factors that provoke seizures
• How severe and how frequent the seizures are
• A pattern of seizures by time of day
• Certain patterns on the EEG, during and between seizures
• Brain imaging findings, for example, MRI or CT scan
• Genetic information
• Other disorders in addition to seizures
• The prospects for recovery or worsening

Not every syndrome will be defined by all these features, but most syndromes will be defined by a number of them. Classifying a person's epilepsy as belonging to a certain syndrome often provides information on what medications or other treatments will be most helpful. It also may help the doctor to predict whether the seizures will go into remission (lessen or disappear).

Benign Rolandic Epilepsy
• Involves twitching, numbness or tingling of the child's face or tongue (a partial seizure)
• Named for the “rolandic” area of the brain which controls movements
• Seizures last no more than 2 minutes
• Child remains fully conscious
• The syndrome represents about 15 percent of all epilepsies in children
• Because the seizures may be infrequent and usually occur at night, many children do not take medication
• In almost every case, the seizures stop on their own by age 15

Juvenile Absence Epilepsy
• Seizures are usually staring spells during which the child is not aware or responsive
• Each seizure lasts about 10 seconds and ends abruptly
• These types of seizures account for 2 to 8 percent of people with epilepsy
• The cause is predominantly genetic
• Treatment for this syndrome is medication
• For 65 percent, seizures respond to treatment and disappear by mid-adolescence

West’s Syndrome/Infantile Spasms
• Consists of a sudden jerk followed by stiffening
• Each seizure lasts only a second or two but usually in a series
• Most common just after waking up and rarely occur during sleep
• They typically begin between 3 and 12 months of age and usually stop by 4 years old
• Steroid therapy and medication are the primary forms of treatment
• Most children are developmentally delayed later in life
• Many children develop other kinds of epilepsy

Juvenile Myoclonic Epilepsy
• Most frequently encountered and the most common of the generalized epilepsy syndromes to emerge in mid-to-late childhood
• First seizure starts between 5 and 16 years old, followed by myoclonic jerks about 1 to 9 years later
• Generalized tonic-clonic seizures are reported in nearly all patients
• It is a genetically pre-determined epilepsy syndrome
• An EEG is the primary diagnostic test and medication is the primary form of treatment

Landau-Kleffner Syndrome
• Landau-Kleffner syndrome usually begins between 3 and 7 years old age
• There is a progressive loss of speech and language skills, along with a decline in IQ
• Seizures occur often during sleep
• Simple partial seizures affecting movement or tonic-clonic seizures may occur
• EEG is the primary diagnostic tool
• Medications, steroids and surgeries can help to treat this syndrome
• Some children may be left with permanent language difficulties

Rasmussen’s Syndrome
• Associated with slowly worsening neurological problems and seizures in children
• Seizures are often the first problem to appear
• Simple partial motor seizures are the most common type
• For 1 out of 5 children, the first seizure may be an episode of partial or tonic-clonic status epilepticus
• Mild weakness of an arm or leg is the most common early symptom besides seizures
• The weakness and other neurological problems often begin 1 to 3 years after the seizures start
• Progressive weakness on one side and thinking/memory impairment is common
• Language problems often occur if the disorder affects the side of the brain that controls most language functions, which is usually the left side
• Recent studies suggest that an autoimmune disorder may be the cause, possibly triggered by a viral infection
• Anti-seizure medication, combined with steroids and immunologic therapies are common treatments
• Surgery (a functional hemispherectomy) may also be performed in severe cases

Lennox-Gastaut Syndrome

For more information visit: www.lgsfoundation.org
• Lennox-Gastaut Syndrome (LGS) designates a type of epilepsy with multiple different types of seizures
o Most often, tonic (stiffening) and atonic (drop) seizures
• Intellectual development is usually, but not always, impaired
• In about a quarter of children, no cause can be identified
• Seizures usually don't respond to seizure medications and is difficult to treat
• Dietary therapies, Vagus Nerve Stimulators and surgery (corpus callosum) can sometimes aid in management and reduction of seizures
• LGS accounts for only 2 to 5 percent of childhood epilepsies
• LGS usually persists through childhood and adolescence to adult years

Dravet Syndrome
For more information, visit: www.dravetfoundation.org
• Dravet Syndrome is a rare genetic epileptic encephalopathy (dysfunction of the brain)
• It begins in the first year of life in an otherwise healthy infant
• The disease begins in infancy but is lifelong
• About 80% of people with this syndrome have a gene mutation that causes problems in the way that ion channels in the brain work
• This mutation is most often not inherited from the parents, but is considered a de novo or "new" mutation in the child
• The seizures are refractory, or do not respond to seizure medications well in most cases
• Most children develop some level of developmental disability and have other conditions that are associated with the syndrome
• It is commonly misdiagnosed
• Infants have normal development at the time the seizures begin
• MRI and EEG tests are also normal in infancy
• Children with Dravet Syndrome often develop and experience many different seizure types
• Often, two or more anti-seizure medications are required for treatment and management of seizures
• Dietary therapies (such as the Ketogenic Diet) can also help with treatment
• Other health issues are prevalent with Dravet Syndrome including
o Low motor tone – can lead to painful foot problems
o Unsteady walking
o Chronic infections
o Growth and nutrition problems
o Problems with the autonomic nervous system
o Behavioral or developmental problems such as autism spectrum disorder

There are many other medical conditions where epilepsy presents itself, rather than being the primary diagnosis. People who live with Autism, Cerebral Palsy and Developmental Disabilities may also experience seizures and the spectrum of side effects and other life-impacting issues that epilepsy brings with it.

It is important to speak with your doctor or your child’s doctor if you have any questions pertaining to your specific situation. A diagnosis of an epilepsy syndrome is important in helping guide the direction of treatment. While some of the above syndromes are quite devastating to a child’s life and to their family as well, a diagnosis of an epilepsy syndrome should not be looked at as an insurmountable challenge – it will most certainly bring difficult days, but with the right amount of patience, dedication and love, as well as creating and maintaining an open and honest communication and relationship with your healthcare team, these syndromes can be managed and treated with much less of an impact upon daily life.

If you have any questions about the information in this posting, please feel free to contact Michelle Kwan, Support Coordinator at by phone (403-230-2764) or by email at michelle@epilepsycalgary.com

Michelle Kwan
Support Coordinator
July 31, 2014