Epilepsy Syndromes

Courtesy of the CEA, 2019    

A special thank you to the Canadian Epilepsy Alliance for sharing their up to date and correct epilepsy information

EPILEPSY SYNDROMES

When a person’s seizure disorder has a characteristic group of features, it is called a syndrome. Syndromes have a cluster of symptoms or signs that define them. An overview of some of the most prevalent epilepsy syndromes is listed below.

AICARDI’S SYNDROME

Aicardi’s Syndrome is only ever seen in girls, and usually appears in the first year of life, however it can occasionally be seen in the neo-natal period. It occurs because of an abnormality in the development of the brain prior to birth. Aicardi’s Syndrome is rare and does not run in families. The long-term prognosis is poor with reduced life expectancy due to severe seizures and other physical problems.

Symptoms

  • Epilepsy early in life, usually starting with infantile spasms, with the possibility of progressing to other types of seizures.
  • Other abnormalities may be present, including those of the spine, facial characteristics, or of the heart.
  • Developmental delays from an early age. Stiffness or extreme weakness of one or more limbs.
  • Learning difficulties are always present and usually severe. Limited language and social development.
  • Eye problems are prevalent. Abnormalities known as Lacunae and unusual eye movements are common and occur because the retina has not developed properly. Vision is usually impaired but blindness is uncommon.

Treatment

There is no specific treatment for Aicardi’s Syndrome as a whole. Treatment involves attempting to minimize symptoms through anti-epileptic drugs, physiotherapy and other emotional and medical supports used to treat a child with multiple disabilities.

BENIGN ROLANDIC EPILEPSY

Benign Rolandic Epilepsy is also referred to as ‘benign partial epilepsy of childhood’ or ‘benign focal epilepsy with centrotemporal spikes’ and is one of the most common types of epilepsy in children; about 15-20%. It is known as benign because of the high probability that it will be outgrown during puberty. By age 14, 95% will have undergone permanent remission. It affects boys and girls equally.

Symptoms

  • Seizures often start upon the child beginning to wake up or during sleep.
  • Begins with a tingly sensation on one side of the mouth and may involve the throat which can garble speech and make the child hard to understand. May make gurgling noises and drool substantially.
  • Seizures may cause twitching movements and stiffness on the side of the face being affected, and may then spread to the rest of that side of the body.
  • Sometimes the seizure will spread to the whole body, causing a generalized tonic-clonic seizure. The child will become unconscious, fall to the floor and body and limbs convulse and jerk.

Treatment

Often children with Benign Rolandic Epilepsy do not need treatment at all. If treatment is required, anti-epileptic medications are most often used, which may limit or eliminate the seizures entirely. Benign Rolandic Epilepsy responds well to treatment.

CHILDHOOD ABSENCE EPILEPSY

Childhood Absence Epilepsy, also called ‘petit mal epilepsy’ or ‘pyknolepsy’ is relatively uncommon, accounting for about 2-5% of epilepsy in children. The prevalence is only slightly higher for girls than for boys. Intelligence is not affected, with some studies actually showing children with this syndrome as having IQ scores 10% above normal. In most cases the absences will stop at puberty, however in about 20% of cases other types of seizures will start and continue on into adulthood.

Symptoms

  • Sudden onset of absence seizures that can last generally between 4 and 20 seconds. These seizures can occur many multiple times daily.
  • Seizures tend to appear in groups of seizures or clusters.
  • They may present as only a loss of awareness or may include actions such as a fluttering of the eyelids, loss of muscle tone, eye rolling and rapid pulse.

Treatment

Seizures are controlled with anti-epileptic medication which is successful in most cases.

FEBRILE SEIZURES

Febrile Seizures are not considered to be epilepsy. They occur in children and infants whose temperatures have been elevated due to some infection in the body. Thirty to 40% of children who have a febrile seizure will experience some sort of recurrence. However only 3% will develop epilepsy during childhood.

Symptoms

  • Generalized convulsive episode involving a trembling or shaking of the body and limbs. May be only slightly visible in some instances.
  • Risk factors which may indicate subsequent presence of epilepsy include:
    • a seizure that is prolonged lasting more than 15 minutes
    • recurrence of further seizures within a 24-hour period

Treatment

In most cases physicians do not prescribe the long-term use of anti-epileptic drugs for febrile seizures. Instead the fever itself may be treated in an attempt to lower the body temp and in turn control the seizure. Children prone to febrile seizures may be treated at the time of the seizure with an oral or rectal treatment.

INFANTILE SPASMS / WEST’S SYNDROME

Although West’s Syndrome and Infantile Spasms are not exactly the same thing, they have come to be used interchangeably because one almost always accompanies the other when it develops in children. This type of epilepsy occurs in about 1 in every 2-4000 children and usually appears in the first 3-6 months of life at which point development usually halts or regresses. Eighty five percent of children who will develop it will do so before the age of 12 months.

Symptoms

  • Characterized by three recognized featured: spasms, mental retardation, and chaotic brain activity on the EEG (hypsarrythmia),
  • The spasms appear as sudden contractions lasting 2-10 seconds and can include stiffening of the body or an arching and extending action of body, arms or legs.
  • Spasms usually occur in a series of several in a row and the series usually abates within 10-30 minutes.

Treatment

Treatment is typically anticonvulsants or steroids, with the AED vigabatrin (Sabril) being most effective, but used with caution due to its permanent effects on vision. outcome is variable and depends in great part due to what the cause of the syndrome is.

JUVENILE MYOCLONIC EPILEPSY

Also known as Janz Syndrome, Juvenile Myoclonic Epilepsy can occur anytime from age 8 to 30 but most usually will develop during or shortly after puberty. It accounts for 8-10% of all epilepsies of adulthood and adolescence.

Symptoms

  • Characterized by myoclonic episodes or sudden jerking movements frequently occurring in a series or upon waking. In the majority of cases they are followed by a generalized tonic-clonic seizure. In some cases, absence seizures will also be a part of the syndrome.
  • Photosensitivity among people with Juvenile Myoclonic Epilepsy is relatively common.
  • Juvenile myoclonic Epilepsy is adversely affected by an irregular lifestyle, and seizures may be triggered by such things as sleep deprivation, irregular sleep times, alcohol/drugs, menstruation, stress, and strong emotional reactions.
  • Seizures tend to last throughout life but with treatment may subside somewhat in mid-adulthood.

Treatment

Juvenile Myoclonic Epilepsy appears to be easily controlled with medication and lifestyle adjustment with over 80% achieving control. However, relapse is common especially with some deviation from a healthy, regular lifestyle, or from withdrawal from the anti-epileptic medication.

LANDAU KLEFFNER SYNDROME

Also known as ‘Acquired Epileptic Aphasia in Childhood’, Landau Kleffner Syndrome is a relatively rare disorder which develops in children usually between the ages of 3 to 7 years old while a child is developing their language recognition and abilities. Twice as many boys are affected than girls.

Symptoms

  • The first indication of Landau Kleffner Syndrome is the developed inability in children to speak. The child will show difficulty in understanding what is said to them, as well as the ability to put their own thoughts into words.
  • Seizures will usually follow within a few weeks of the development of the language problems and can include both tonic-clonic and complex partial seizures.
  • Rarely, a severe behavioural disorder with autistic and psychotic features may develop.

Treatment

Landau Kleffner responds well to anti-epileptic drugs and the long-term outlook for this disorder is a positive one. As well, a careful assessment of the child’s educational strengths and needs is very important so that appropriate educational supports can be put in place during this time. For the vast majority, the seizures will usually disappear by the time they reach their mid-teens. Language skills as well usually improve over time but is less predictable and may need additional support.

LENNOX GASTAUT SYNDROME

Lennox Gastaut Syndrome is one of the most severe of the childhood epilepsy syndromes. It accounts for anywhere between 3-10% of all childhood epilepsies and usually develops between the age of 3 and 5 years. About 20% of all cases develop from previous West’s Syndrome. While the cause is often unknown, Lennox Gastaut can develop from several known causes:

  • developmental malformation of the brain
  • brain disease such as tuberous sclerosis
  • brain injury relating to problems with pregnancy and birth
  • severe brain infections such as meningitis or toxoplasmosis

Symptoms

  • Characterized by very frequent seizures of several different types. Most common are drop attacks, atypical absence seizures and tonic seizures, however other types can occur.
  • Some children with Lennox Gastaut are known to be prone to non-convulsive status epilepticus which requires immediate emergency intervention.
  • Lennox Gastaut affects intellectual development to varying degrees, with some children being dependant on a care giver for many or most of their activities.

Treatment

Unfortunately, this syndrome seems to be very difficult to treat and often does not respond to typical epilepsy medications, or will respond for a brief time only. A small percent will outgrow their seizures and attain normal or near normal intelligence and abilities. For others, treatments such as the ketogenic diet, vagal nerve stimulation corpus callosotomy surgery have been utilized with varying degrees of effectiveness.

RASMUSSEN’S SYNDROME

Also known as Rasmussen’s encephalitis, this syndrome is a very rare form of brain malfunction that may begin at any time in childhood. The brain cells in one hemisphere of the brain become inflamed, the cause of which is not yet determined.

Symptoms

  • Resulting from the inflammation, the nerve cells of the brain malfunction and fire off electrical activity which in turn causes epilepsy.
  • Typically causes partial epilepsy which becomes continuous. This is evident with simple partial motor seizures causing rhythmical jerking of the arm or leg on the opposite side of the body as the inflamed brain cells.
  • Can lead to irreversible damage of the nerve cells caused by the inflammation and atrophy of the brain.

Treatment

After a period of some years, this inflammation and deterioration usually stops of its own accord. However, nerve cells that have already been injured cannot regenerate. In some instances, some treatment may be afforded through brain surgery to remove the affected area of the brain if this is feasible. Also, as a result of the learning difficulties caused by the inflammation, careful educational and social supports should be implemented to facilitate learning.