Epilepsy Syndromes

Infantile epileptic spasms syndrome is a rare seizure disorder, previously referred to as West Syndrome. This syndrome mainly affects those in their first year of life, typically between 4-8 months of age but the onset and diagnosis can be outside these parameters.

Seizures

The spasms (seizures) typically happen during wakefulness and look like a sudden bending forward of the body with stiffening of the arms and legs. These are brief – and over in seconds.  Some infants arch their backs as they extend their arms and legs.  The spasms tend to cluster when the infant wakes up, and they can have a few, to up to hundreds of seizures per day.

There are many different causes of infantile spasms, which can happen before or after birth.

Diagnosis

Infants with this type of epilepsy will present with:

• Seizures known as infantile or epileptic spasms
• Developmental delays and cognitive problems or regression
• A specific brain wave pattern on EEG called hypsarrhythmia

Early diagnosis is important for infantile epileptic spasms because early treatment affects prognosis and outcomes.

Management

Treatment is firstly commenced with specific medications known to act upon these seizures. These medications can be very effective but also have significant adverse side effects, which your doctor will discuss.

When these medical treatments do not improve the epileptic spasms, doctors may consider trying the ketogenic diet as well.

If there are brain lesions causing the spasms, the seizures may decrease if the lesions are removed by surgery.

It is very important for treatment to start as soon as possible. If spasms (and hypsarrhythmia) continue, they can have negative effects on the developing brain.

Prognosis

The outlook varies, and mostly depends on what is causing the epileptic spasms.

Many infants have neurological impairment before spasms begin and will have intellectual disabilities later in life.

Infantile spasms usually stop by age 4 or 5 but many children will develop other types of seizures or syndromes, like Lennox-Gastaut syndrome, which may not respond well to medication.

Outcomes may be better if:

• Treatment is started quickly after the epileptic spasms start
• There is normal development before the spasms started
• There is no known cause for their spasms found.

Temporal lobe epilepsy (TLE) is a type of focal epilepsy where the seizures originate in the temporal lobe of the brain. Approximately 60 percent of all forms of epilepsy are focal in origin, with the majority originating in the temporal lobe.

The seizures are called focal seizures, or focal onset seizures. Sometimes focal seizures can evolve into a convulsive (tonic clonic) seizure which is then termed focal to bilateral seizure.

Figure 1 Temporal Lobe from: https://commons.wikimedia.org/wiki/File:Temporal_lobe_-_lateral_view.png

The temporal lobes

The temporal lobes sit at each side of the head, behind the ears. They are most commonly associated with memory function and also processing language, sound, emotions and visual recognition.

Damage to the temporal lobes can cause problems such as:

• Difficulty in understanding spoken words
• Difficulty learning and retaining new information
• Memory difficulties
• Disturbance with selective attention to what we see and hear (focus)
• Persistent talking
• Difficulty in recognising faces
• Increased or decreased interest in sexual behaviour
• Emotional disturbance

Seizure types

While TLE seizures primarily have focal seizures. These can vary greatly between individuals. They are broken down into two groups:

1. when awareness is retained – focal aware seizure, and
2. when awareness is impaired – focal impaired awareness seizure.

Note: Any focal seizure can spread to both hemispheres of the brain and become a tonic clonic seizure. This is called a focal to bilateral tonic-clonic seizure.

Symptoms of temporal lobe seizures can include the following:

1. Focal aware seizures: often referred to as “auras,” where the person is conscious (aware) and will know that something is happening and will remember the seizure afterwards. Sometimes they may not be able to move or communicate during the seizure, but they are aware of what is happening.

Symptoms can include:

• Focal sensory seizure– numbness, tingling or burning sensation in a region of the body, unusual smell or taste, dizziness, feeling hot or cold
• Focal motor seizure – jerking of a limb, twitching of the face, weakness or paralysis of a muscle group
• Focal autonomic seizure – blushing, pallor, heart-rate changes or palpitations, nausea
• Focal emotional seizure – changes in mood or emotion such as fear, panic, laughing, crying
• Focal cognitive seizure – unable to speak, speech difficulty, déjà vu, visual hallucinations, hearing sounds
• Focal behaviour arrest seizure – the person will just “freeze” and appear unable to move or talk

Remember, the person knows these seizures are happening and may not even consider them as a seizure, but merely as a warning of an impending seizure. What causes these symptoms though is seizure activity in a small region of the brain. Approximately 70% of focal aware seizures progress into a focal impaired awareness seizure.

2. Focal impaired awareness seizures: this is when there is a loss of awareness for some or all of the seizure. The person’s awareness is diminished, and they may be confused, may or may not be able to hear you, and not fully understand what you say or be able to respond appropriately. Often, they lose memory for some or all the seizure.

Symptoms vary but can include;

• blank staring, disorientation or confusion, not responding appropriately, chewing or lip smacking, picking at clothes, fumbling, repetitive movements, unusual vocalisation or unable to speak, becoming unaware of surroundings, and wandering.

Sometimes these seizures are very subtle and not recognised as a seizure by onlookers, and other times they are mistaken for intoxication or psychiatric illness. This seizure type may be preceded by a focal aware seizure.

3. Both these seizure types can progress into a focal to bilateral tonic clonic seizure if they seizure activity spreads to both hemispheres of the brain.

Management

Medication: Many people with TLE gain seizure control with anti-seizure medication, but about 1 in 3 may not respond well to medication and continue to have seizures.

Poorly controlled seizures can significantly affect quality of life. People commonly report problems with memory, moods – primarily anxiety and depression, social isolation and difficulties getting or maintaining work.

People with TLE who have a poor response to antiseizure medication and should be considered for surgical assessment if this is the case. Surgery to remove the area causing the seizures is a possible option for many people with TLE.

If you’ve tried many medications, yet continue to have seizures, talk to your doctor or about other treatment options available that may help you. You may need a referral to a comprehensive epilepsy centre to investigate further options.

Surgery: If seizures fail to respond to medication, then epilepsy surgery may be an option.

Early surgical assessment and intervention has a good success rate and also benefits through improvements in quality of life. Epilepsy surgery is only suitable for a small number of people with drug resistant epilepsy, but fortunately TLE is one type of epilepsy that is often successfully treated with surgery.

Depending on the individual circumstances, up to 7 out of 10 people can be seizure-free after epilepsy surgery.

Listen here to neurosurgeon Dr Erica Jacobsen answer questions about epilepsy surgery.

Neuromodulation: For people where epilepsy surgery is not possible, other options such as neuromodulation – vagus nerve stimulation (VNS), deep brain stimulation (DBS) – is available for consideration. This can lead to fewer and shorter seizures, and better recovery after seizures.

For more about treatment options, click here

Lifestyle choices

Your lifestyle choices can affect seizure control. Important ways you can help improve seizure control are:

• Taking medications as prescribed
• Avoiding seizure triggers when possible
• Getting enough sleep
• Managing stress
• Eat well and exercise
• Avoid or limit alcohol intake.

For more information see our Self-Management Factsheet

Online Support Networks: connect with others living with epilepsy

Seizure First Aid: How to assist someone during a seizure safely.

This is a syndrome seen in childhood and is characterised by frequent absence seizures between the ages of 2 to 13 years (usually 4-10 years).

Seizures

Typically, an absence seizure will look like:

• the person suddenly stops what they are doing
• they will stare vacantly, with loss of facial expression and unresponsiveness
• sometimes eye blinking, upward eye movements, or small movements of the hands are seen
• the seizure can last from 3 to 20 seconds and start and end abruptly
• straight after the seizure the person is wide awake, resumes their previous activity, usually unaware the seizure has happened or no memory of what happened during the seizure

Absence seizures are generalised onset seizures, which means the seizure affects both hemispheres (sides) of the brain from the onset. Because of this, a person loses awareness at the start of the seizure.

The seizures usually begin in childhood and are easily missed or mistaken as daydreaming, inattentiveness or “not listening”. They are very brief but occur multiple times a day. Childhood absence epilepsy is more common in girls.

Diagnosis

Childhood absence epilepsy is generally easy to diagnose with a routine EEG. Typical absence seizures can be easily provoked with hyperventilation (fast deep breaths) and show a specific waveform on EEG, confirming diagnosis.

Management

Absence seizures generally respond well to medication. Because these seizures can happen many times a day, causing brief loss of awareness for that time, it can impact learning or daily activities. Problems with attention may continue despite controlling the seizures.

Prognosis

Childhood development is typically normal, and many children outgrow absence seizures in their teenage years. In these cases, antiseizure medications can usually be weaned. However, some children may develop other seizure types or generalised epilepsy syndromes.

This syndrome is seen in adolescents or adults where absence seizures are seen, usually less than daily, much less frequently than childhood absence seizures. In about 80% of people with juvenile absence epilepsy, generalised tonic clonic seizures also occur, typically within 30 minutes of waking.

Seizures

An absence seizure will look like:

• the person suddenly stops what they are doing
• they will stare vacantly, with loss of facial expression and unresponsiveness
• sometimes eye blinking, upward eye movements, or small movements of the hands are seen
• the seizures are very brief and start and end abruptly
• loss of awareness may vary. It can be complete loss of awareness, or the person may have some awareness and respond to commands, but have difficulty doing complex tasks

• recovery is quick and the person usually can resume activity after the seizure

• absence status epilepticus can occur

A tonic clonic seizure will look like:

• a sudden loss of consciousness, sometimes with vocalisation or crying out
• the eyes, head and body may turn in one direction
• the body becomes stiff (tonic), followed by jerking of the muscles (clonic)
• if standing, the muscle stiffening will cause the person to fall
• breathing is compromised during the seizure which may cause the lips and face to look greyish/blue
• the person will not respond when spoken to
• excess saliva may come of the person’s mouth, and there may also be blood if they have bitten their tongue or the inside of their cheek
• there may be loss of bladder control or less commonly bowel control
• immediately after the seizure breathing can be quite laboured and sound like heaving snoring
• after the seizure there is usually a period of confusion, headache, soreness and sleepiness.

Diagnosis

Juvenile absence epilepsy is generally easy to diagnose with a routine EEG. Typical absence seizures can be easily provoked with hyperventilation (fast deep breaths) and show a specific waveform on EEG, confirming diagnosis.

EEG abnormalities can be enhanced by sleep deprivation.

There may be a family history of epilepsy, but this is not always the case.

Attention deficit hyperactivity disorder and learning difficulties may also occur.

Management

Juvenile absence epilepsy usually responds to medication in most people, but treatment is life-long. Not everyone will gain full seizure control.

It is important to avoid seizure triggers such as sleep deprivation and alcohol consumption, as this syndrome is sensitive to these provoking factors. Hyperventilation may also precipitate absence seizures.

Prognosis

Most people respond well to medication with good seizure control, but often life-long anti-seizure medications are needed. If the medication is stopped, the seizures will recur.

Approximately 1 in 5 people with juvenile absence epilepsy will progress into juvenile myoclonic epilepsy.

Problems with attention and learning difficulties may continue despite good seizure control.

This is a common syndrome and accounts for approximately 10 percent of all epilepsies and is typically diagnosed in youth (10-24 years).  Myoclonic seizures are seen, with or without generalised tonic clonic seizures in an otherwise normal individual. The EEG must show specific waveforms for diagnosis of this syndrome. A large number of people with juvenile myoclonic epilepsy have photosensitivity (seizures triggered by flashing lights)

Seizures in this group are sensitive to triggers such as sleep deprivation, stress and alcohol.

Seizures

A myoclonic seizure will look like:

• Sudden single jerks, predominantly of the arms but can involve legs or the body.
• Jerks can vary in severity but can be severe enough to cause the person to drop things. Similar to a jerk you have when going off to sleep.
• The jerks typically happen within 1 to 2 hours of waking up whether it be after a full nights sleep or a daytime nap. There may be a single jerk or a cluster of jerks.
• Sometimes these jerks make the person look clumsy or prone to dropping things.
• Myoclonic seizures (jerks) are often triggered by lack of sleep and flashing lights.

A tonic clonic seizure will look like:

• a sudden loss of consciousness, sometimes with vocalisation or crying out
• the eyes, head and body may turn in one direction
• the body becomes stiff (tonic), followed by jerking of the muscles (clonic)
• if standing, the muscle stiffening will cause the person to fall
• breathing is compromised during the seizure which may cause the lips and face to look greyish/blue
• the person will not respond when spoken to
• excess saliva may come of the person’s mouth, and there may also be blood if they have bitten their tongue or the inside of their cheek
• there may be loss of bladder control or less commonly bowel control
• immediately after the seizure breathing can be quite laboured and sound like heaving snoring
• after the seizure there is usually a period of confusion, headache, soreness and sleepiness.

Diagnosis

People with juvenile myoclonic epilepsy often don’t present to the doctor until their first tonic-clonic seizure. Diagnosis is based on a good description of the events (jerks upon awakening) and an EEG which includes standard provoking features such as hyperventilation and photic stimulation (strobe light). A sleep and/or sleep deprived EEG may be needed.

There may be a family history of epilepsy, but this is not always the case.

Management

There are specific antiseizure medications that are chosen to treat juvenile myoclonic epilepsy, as some antiseizure medications can worsen the seizures. Juvenile myoclonic epilepsy usually responds to well medication, but treatment is life-long.

It is important to avoid seizure triggers such as sleep deprivation and alcohol consumption, and manage stress, as this syndrome is sensitive to these provoking factors and they increase the risk of seizures.

Prognosis

Most people with juvenile myoclonic epilepsy gain full seizure control with medication. Stopping medication could cause a relapse of seizures, even if seizures have been controlled for many years.  Myoclonic seizures may disappear or diminish in severity with age.

Maintaining lifestyle (stress, sleep and alcohol) is important for good seizure control with this syndrome.

People with juvenile myoclonic epilepsy usually have normal development and cognition.

Self-limited epilepsy with centrotemporal spikes (previously called benign childhood epilepsy with centrotemporal spikes or rolandic epilepsy) is a self-limited* epilepsy syndrome that begins in an otherwise normal child in their early school years.

*Self-limited meaning that the epilepsy is age-related and seizures stop by a certain age.

The EEG shows a normal background with characteristic epileptiform abnormalities which are typically activated with drowsiness and sleep. Seizures stop by adolescence.

Seizures

Seizures can occur when the child is awake or asleep, but predominantly during sleep.

They generally happen within an hour after the child goes to sleep or 1-2 hours before they wake up. They may also be seen during daytime naps.

The child remains fully aware during the seizure which will show signs of:

• facial twitching,
• numbness or tingling of one side of the face or tongue
• difficulty or inability to speak
• drooling

These seizures are usually brief, 2-3 minutes in most cases, and most children have them infrequently.

Seizures may progress into a tonic-clonic seizure. A tonic clonic seizure will look like:

• a sudden loss of consciousness, sometimes with vocalisation or crying out
• the eyes, head and body may turn in one direction
• the body becomes stiff (tonic), followed by jerking of the muscles (clonic)
• if standing, the muscle stiffening will cause the person to fall
• breathing is compromised during the seizure which may cause the lips and face to look greyish/blue
• the person will not respond when spoken to
• excess saliva may come of the person’s mouth, and there may also be blood if they have bitten their tongue or the inside of their cheek
• there may be loss of bladder control or less commonly bowel control
• immediately after the seizure breathing can be quite laboured and sound like heaving snoring
• after the seizure there is usually a period of confusion, headache, soreness and sleepiness.

Diagnosis

Children with this epilepsy syndrome have very characteristic seizures. Diagnosis is generally based on a good description of the seizures and an EEG which should show a normal background, but with typical epileptiform waveforms associated with this syndrome.  A sleep and/or sleep deprived EEG may be done.

Management

Most children with SeLECTS have infrequent seizures so are not usually prescribed anti-seizure medication. However, medication may be prescribed if a child is having daytime or frequent seizures, and possibly if there are many epileptic waveforms on EEG and learning, cognition and language problems are present.

Prognosis

Seizures occur for approximately 2 to 4 years and spontaneously resolve by the age of 15 to 16 years (in more than 95% of children) but can occasionally occur up to 18 years of age. The majority of children have less than 10 seizures.

Seizures usually respond well if medication is prescribed.

During the course of the active epilepsy, symptoms such as learning difficulties, impaired memory, language and behavioural problems may develop or worsen. These deficits often improve with age.

SeLECTS may potentially be an early presentation of other epileptic syndromes.

Dravet syndrome is a rare and complex epilepsy syndrome with frequent and difficult to treat seizures. Dravet syndrome typically starts in the first year of life in a normal developing child and symptoms range from mild to severe.  Multiple seizure types are seen.

Epilepsy is just one part of Dravet syndrome and there are other associated conditions seen. These include cognitive and developmental delays, behavioral challenges, mobility issues, speech impairment, and difficulties with sleep.

Seizures

First seizures usually occur around 5 to 8 months of age and as the child develops, they may experience various seizure types, including focal (usually one-sided jerking) or generalised tonic-clonic seizures (convulsive). Seizures can be prolonged and occur with or without a fever. Other seizure types including myoclonic and atypical absence seizures appear between the age of 1 and 4 years.

The syndrome and seizure types can evolve through different stages to adulthood.

Unfortunately, seizures are usually resistant to treatment, and from the second year of life children start to lag in development behind their peers.

Diagnosis

Early diagnosis is important to guide appropriate treatment choice, and other supports can be initiated.

The clinical diagnosis is supported by the presence of abnormalities in the sodium channel gene SCN1A (found in over 80% of cases). Genetic testing is needed to confirm this. There may be a family history of febrile seizures or other types of epilepsy.

Recognising and understanding the diagnosis, treatment options, and other possible conditions associated with this syndrome is crucial for improving outcomes and fostering hope for the future.

Management

Currently there is no cure for Dravet syndrome, but several treatment options can help manage symptoms and improve quality of life. Many families report progress and improved quality of life through diligent management and supportive networks.

Medication: Dravet syndrome is initially treated with an appropriate antiseizure medication. There are recognised medications that are more effective for this syndrome, and some which should be avoided. Some new antiseizure medications such as stiripentol and fenfluramine are showing promising results. Seizures can also be responsive to cannabidiol, and there is an approved cannabidiol treatment in Australia for Dravet syndrome. Rescue medication is usually prescribed to be given outside the hospital setting for rapid treatment of prolonged seizures.

Dietary therapy: The classic ketogenic diet is also a consideration if the seizures are not well controlled after trialling medications and has shown significant effectiveness in some people.

Surgical options: These are limited; however, vagus nerve stimulation therapy has shown to be effective in decreasing the frequency and severity seizures.

Seizure management is focussed on improving seizure control, keeping medication side effects to a minimum, avoiding seizure triggers, maximising quality of life and reducing seizure-related risks. Support groups and online communities can be a valuable resource and support.

Other challenges and therapies: Children with Dravet syndrome often face additional challenges and managing these comorbidities is critical for holistic care. Many children will engage in various therapies—such as speech, occupational, and physical therapy—to help improve communication, motor skills, and overall functioning.

Prognosis

Dravet syndrome is a lifelong condition, and seizures are often difficult to control. Epileptic seizures in adults may be less frequent and severe than those experienced in childhood and the occurrence of prolonged seizures decreases with age. Because of the seizures and other associated issues, very few will live independently as adults.

Unfortunately, people with Dravet syndrome have an increased risk of death due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, and seizure-related accidents.

Despite the challenges associated with Dravet Syndrome, there is a lot of ongoing research, and new treatments are showing promising results and paving the way for better outcomes. With appropriate treatment and care, many children with Dravet Syndrome can lead fulfilling and meaningful lives.