Epileptic Encephalopathies

Epileptic encephalopathies are severe brain disorders that present at an early age and manifest with aggressive EEG activity, multiform, intractable seizures and cognitive, behavioral and neurological deficits. Epileptic encephalopathies are age-specific syndromes and present in the neonatal period, infancy or early childhood.

• Electrical Status Epilepticus in Sleep
• Landau Kleffner Syndrome
• Continuous Spike Wave of Sleep
• West Syndrome (Infantile Spasms)

Electrical Status Epilepticus in Sleep (ESES)

Electrical status epilepticus in sleep (ESES) is a rare disorder, characterized by neurocognitive regression and epileptic seizures during sleep. Landau Kleffner syndrome (LKS) and continuous spike wave in slow-wave sleep (CSWS) are two specific types of epileptic syndromes seen in children with ESES. ESES is seen in more boys than girls.

Landau Kleffner Syndrome (LKS)

LKS is an extremely rare epilepsy syndrome that typically presents between 3 and 6 years. LKS is a syndrome associated with electrical status epilepticus in sleep (ESES).

• Symptoms: Early signs of LKS include epileptic seizures and difficulty understanding and speaking words. Challenges understanding conversation and recognizing voices will continue to persist and may worsen over time, with the child not being able to discern non-language based sounds such as doorbells, singing or dogs barking. This is called verbal auditory agnosia. Children with LKS can oftentimes be misdiagnosed with hearing loss. Behavior and cognitive impairments such as attention deficit hyperactivity disorder (ADHD) and attention deficit disorder (ADD) are also a common symptom of LKS.
• Causes: The cause of LKS is unknown.
• Diagnosis: An electroencephalogram (EEG) can pick up on abnormalities in the temporal lobe. An EEG is a procedure that records the brain's electrical activity. It is performed by attaching electrodes to the scalp. An EEG conducted over a longer period of time, specifically during sleep, will be most effective at capturing abnormalities. An EEG can also be used to monitor progress and help determine treatment over time. Magnetic resonance imaging (MRI) and computed tomography (CT) brain scans may also be used to better understand the abnormalities and determine treatment. Additionally, it is important for children with LKS to receive speech, behavioral and educational assessments, to best determine interventions and long-term treatment plans.
• Treatment: Early diagnosis and proper intervention are key to success. The epileptic seizures associated with LKS often respond well to antiseizure medications. Additionally, the ketogenic diet has been shown helpful for children with LKS. If epilepsy medicine brings no relief, a highly specialized form of brain surgery called subpial transection is available for some children with LKS, but is not a suitable option for every child. In addition to treating the epileptic seizures, the behavior, learning and speech problems associated with LKS will likely have to be treated specifically through behavioral pediatricians, speech therapists and educational psychologists.

Continuous Spike Waves of Sleep (CSWS)

CSWS is a rare epileptic syndrome associated with electrical status epilepticus in sleep (ESES), typically presenting in children between the ages of 4 and 7.

• Symptoms: CSWS typically presents as epileptic seizures during sleep and developmental regression. The most common kind of seizure associated with CSWS is the focal (partial) motor seizure, usually occurring during sleep.
• Causes: The underlying cause of CSWS is unknown. Some causes of CSWS are frequently found to be brain malformations, genetic or metabolic conditions.
• Diagnosis: Diagnosis begins with a complete history and thorough exam of the child. A test called an electroencephalogram (EEG) can pick up on abnormalities in the temporal lobe. An EEG is a procedure that records the brain's electrical activity. It is performed by attaching electrodes to the scalp. This test is administered to see how medicine is helping the electrical problems in a child’s brain. An EEG conducted over a longer period of time, specifically during sleep, will be most effective at capturing abnormalities. Magnetic resonance imaging (MRI) may also be used to determine if there are any structural abnormalities on the brain.
• Treatment: Early diagnosis and proper intervention are key to success. Children with CSWS are treated with antiseizure medications. Various medications can be used independently or together to provide the most relief for each individual child. In rare instances, surgery may be recommended but is not an option for all children with CSWS. If seizures continue despite medication, a surgery called multiple subpial transections may be done in some cases. In addition to treating the seizures, the developmental regression will likely have to be treated specifically through behavioral pediatricians, speech therapists and educational psychologists.

West Syndrome (Infantile Spasms)

West syndrome is an age-specific, severe form of epilepsy characterized by infantile spasms, abnormal brain wave patterns called hypsarrhythmia and developmental disability. Almost all cases of West syndrome occur in the first year of life and stop between the ages of 2 and 4. West syndrome occurs in roughly .31 per 1,000 live births in the United States, and it makes up about 30% of all cases of epilepsy affecting infants.

• Symptoms: Almost all cases of West syndrome occur in the first year of life, with the average age being roughly 6 months old. Symptoms include:
  • Epileptic spasms: These present as involuntary muscle spasms that occur as a result of seizures. The spasms typically begin suddenly, soon after waking or after feeding, and last a few seconds in larger clusters that can last up to 20 minutes.
  • Abnormal results from the electroencephalogram (EEG)
  • Abnormal, chaotic wave patterns (hypsarrhythmia)
  • Developmental delays, such as muscle coordination
• Causes: The most common cause of West syndrome is tuberous sclerosis. A specific cause can be identified in about 70-75% of cases, and includes:
  • Trauma
  • Brain malformations
  • Infections
  • Chromosomal abnormalities
  • Metabolic or genetic diseases
• Diagnosis:
  • EEG: An EEG is a painless, noninvasive procedure that records the brain's electrical activity. If a hypsarrhythmia is recorded, especially during sleep, this can help to diagnose infantile spasms.
  • MRI: Brain scans such as a CT and a MRI can provide more detailed information on any malformation on the brain or other types of lesions commonly seen in infantile spasms.
  • Blood tests: Infections are determined by blood tests, urine test and lumbar puncture.
  • Genetic testing: Blood tests that determine any underlying genetic indications as the cause of epilepsy may be ordered.
• Treatment: A successful treatment plan will require the coordinated efforts of a comprehensive team of specialists.
  • Antiseizure medicine may help reduce or control various types infantile spasms associated with West syndrome.
  • Surgery: In cases where there is a malformation or TS is the underlying cause of the infantile spasms, epilepsy surgery may be explored.
• Additional Resources:
  • Infantile Spasms: What parents need to know