Ohtahara syndrome

This is a very rare epilepsy syndrome. Seizures start before 3 months of age. Many babies have an underlying structural brain abnormality or a metabolic (biochemical) disorder. This may be genetic in origin (passed on through the genes), or happen because of brain damage before or around the time of birth. A number of gene abnormalities, called mutations, may also cause Ohtahara syndrome. These include STXBP1, ARX, CDKL5 and PNKP. Other mutations will almost certainly be found in the future. However, no cause will be found in some infants. 

It is one of the group of severe epilepsy syndromes that start in the first year of life and are called the ‘Developmental and epileptic encephalopathies’.

This syndrome is quite similar to another developmental and epileptic encephalopathy called ‘Early myoclonic encephalopathy’.

Other names for Ohtahara syndrome

• Early infantile epileptic encephalopathy (EIEE) with burst-suppression

Symptoms

Seizures usually start in the first 7 to 10 days of life. Sometimes the mother may realise her baby was having seizures during the last couple of months of her pregnancy, when she sees her baby having seizures after birth.

Different types of seizures happen in this syndrome. The most common type is a tonic spasm where the baby suddenly has stiffening of the limbs, which last between 2 and 6 or more seconds. These tonic spasms may be quite subtle or quite severe. They are not the same as the epileptic spasms (infantile spasms) that occur in West syndrome. Children with Ohtahara syndrome also have focal (partial) motor seizures and myoclonic seizures with jerking of one limb, or one side of the body. These may last a few seconds to several minutes. Generalised seizures may happen later. After between 2 and 7 months, the seizure type may change to infantile spasms and the child may then develop West syndrome.

Diagnosis

A full account and description of what happens during the seizures is important for the doctors to make the diagnosis. It is always helpful if you can record a video of some of the seizures and show these to the hospital doctor.

The EEG test, which records the electrical activity in the brain, is always abnormal, showing evidence of abnormal discharges, or spikes and waves (the ‘burst’) alternating with periods of looking flat and featureless (‘suppression’). This type of record is referred to as ‘burst-suppression’ pattern. 

Epilepsy Action has more information on diagnosis.

Treatment

The seizures are often resistant to epilepsy medicines. The choice of medicine is difficult, but often some of the older medicines, such as phenobarbital, are tried first. Other medicines that may be effective include levetiracetam (Keppra), clobazam (Frisium), clonazepam (Rivotril), vigabatrin (Sabril) and zonisamide (zonegran). Other medicines such as pyridoxine and pyridoxal phosphate and a course of steroids called prednisolone may also be effective in a small number of children. Some babies with a focal (in one area only) structural brain abnormality seen on a magnetic resonance imaging (MRI) scan may be able to have epilepsy surgery to remove the abnormal area of brain. It may be possible to reduce the numbers of seizures if the baby is found to have a treatable metabolic (biochemical) disorder.

If your child has this syndrome it is very likely they will have prolonged or repeated seizures that continue over many minutes or even hours. Your child’s doctor will discuss a ‘rescue’ or emergency care plan with you to treat any prolonged or repeated seizures.

There may be research studies open that are relevant to this epilepsy syndrome. Your child’s doctor will be able to discuss this with you.

Information about treatments for children can be found on the Medicines for Children website.

Outlook

Affected babies do not behave normally. They are very floppy and excessively sleepy (described as an encephalopathy) and often have difficulty with feeding. With time they may develop stiffness (spasticity) in the limbs. They also make very little developmental progress and remain totally dependent. They often feed poorly. Sadly, they often die within the first two years of life, because of complications, including repeated chest infections. Those who do survive are usually severely disabled and will continue to have seizures despite treatment. Many babies go on to develop West syndrome, usually between 3 and 9 months of age.

Support

Contact
Charity for families of disabled children.
Freephone helpline: 0808 808 3555
Website: contact.org.uk
Email: helpline@contact.org.uk

Together for Short Lives
Helpline: 0808 8088 100
Website: togetherforshortlives.org.uk

What is a syndrome?

A syndrome is a group of signs and symptoms that, added together, suggest a particular medical condition. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. The results of an electroencephalogram (EEG) are also used to help identify epilepsy syndromes.

If you would like to know more about an epilepsy syndrome, please speak to your doctor. If you would like to know more about epilepsy in general, please contact the Epilepsy Action Helpline.

Epilepsy & Bullying

Stigma and bullying

Stigma and bullying is common in epilepsy, often due to widespread misunderstanding about the condition. It can lead to the young person having low self-esteem and a reduction in motivation to engage with school learning and activities. The attitudes of their school, family and friends play an important role in the young person’s overall school experience and their wellbeing.

Many young people with epilepsy say they have encountered nastiness because of their condition. This can have a devastating impact on childhood, with many young people avoiding going to places where they might be the victim of ill-treatment.

Raising awareness of the basic facts about epilepsy will help to improve confidence, tolerance and inclusion as well as dispel unhelpful myths. Awareness raising should involve both pupils and school staff and can be done in a variety of ways, including:

  • Holding assemblies and lessons
  • Being alert to bullying
  • Developing ‘epilepsy-aware’ peer group
  • Arranging staff training

Schools need to ensure that awareness raising is handled sensitively and with the young person’s (and their parents’) support. Parents, charities and other outside agencies could contribute to the awareness raising activities.

Bullying is an additional stress to young people with epilepsy and stress is a common trigger for seizures. While many schools work hard to eliminate bullying, young people with epilepsy need to be recognised as particularly vulnerable.

What Is a CT Scan?

A computerized tomography scan (CT or CAT scan) uses computers and rotating X-ray machines to create cross-sectional images of the body. These images provide more detailed information than normal X-ray images. They can show the soft tissues, blood vessels, and bones in various parts of the body. A CT scan may be used to visualize the:

  • head
  • shoulders
  • spine
  • heart
  • abdomen
  • knee
  • chest

During a CT scan, you lie in a tunnel-like machine while the inside of the machine rotates and takes a series of X-rays from different angles. These pictures are then sent to a computer, where they’re combined to create images of slices, or cross-sections, of the body. They may also be combined to produce a 3-D image of a particular area of the body.

Why Is a CT Scan Performed?

A CT scan has many uses, but it’s particularly well-suited for diagnosing diseases and evaluating injuries. The imaging technique can help your doctor:

  • diagnose infections, muscle disorders, and bone fractures
  • pinpoint the location of masses and tumors (including cancer)
  • study the blood vessels and other internal structures
  • assess the extent of internal injuries and internal bleeding
  • guide procedures, such as surgeries and biopsies
  • monitor the effectiveness of treatments for certain medical conditions, including cancer and heart disease

The test is minimally invasive and can be conducted quickly.

How Is a CT Scan Performed?

Your doctor may give you a special dye called a contrast materialto help internal structures show up more clearly on the X-ray images. The contrast material blocks X-rays and appears white on the images, allowing it to highlight the intestines, blood vessels, or other structures in the area being examined. Depending on the part of your body that’s being inspected, you may need to drink a liquid containing the contrast. Alternatively, the contrast may need to be injected into your arm or administered through your rectum via an enema. If your doctor plans on using a contrast material, they may ask you to fast for four to six hours before your CT scan.

When it comes time to have the CT scan, you’ll be asked to change into a hospital gown and to remove any metal objects. Metal can interfere with the CT scan results. These items include jewelry, glasses, and dentures. Your doctor will then ask you to lie face up on a table that slides into the CT scanner. They’ll leave the exam room and go into the control room where they can see you and hear you. You’ll be able to communicate with them via an intercom.

While the table slowly moves you into the scanner, the X-ray machine will rotate around you. Each rotation produces numerous images of thin slices of your body. You may hear clicking, buzzing, and whirring noises during the scan. The table will move a few millimeters at a time until the exam is finished. The entire procedure may take anywhere from 20 minutes to one hour.

It’s very important to lie still while CT images are being taken because movement can result in blurry pictures. Your doctor may ask you to hold your breath for a short period during the test to prevent your chest from moving up and down. If a young child needs a CT scan, the doctor may recommend a sedative to keep the child from moving.

Once the CT scan is over, the images are sent to a radiologist for examination. A radiologist is a doctor who specializes in diagnosing and treating conditions using imaging techniques, such as CT scans and X-rays. Your doctor will follow-up with you to explain the results.

What Are the Risks Associated with a CT Scan?

There are very few risks associated with a CT scan. Though CT scans expose you to more radiation than typical X-rays, the risk of cancer caused by radiation is very small if you only have one scan. Your risk for cancer may increase over time if you have multiple X-rays or CT scans. The risk of cancer is increased in children receiving CT scans, especially to the chest and abdomen.

Some people have an allergic reaction to the contrast material. Most contrast material contains iodine, so if you’ve had an adverse reaction to iodine in the past, make sure to notify your doctor. Your doctor may give you allergy medication or steroids to counteract any potential side effects if you’re allergic to iodine but must be given contrast.

It’s also important to tell your doctor if you’re pregnant. Though the radiation from a CT scan is unlikely to harm your baby, your doctor may recommend another exam, such as an ultrasound or MRI scan, to minimize risk.

What Do CT Scan Results Mean?

CT scan results are considered normal if the radiologist didn’t see any tumors, blood clots, fractures, or other abnormalities in the images. If any abnormalities are detected during the CT scan, you may need further tests or treatments, depending on the type of abnormality found.

EEG (electroencephalogram)Test

Overview

An electroencephalogram (EEG) is a test that detects electrical activity in your brain using small, metal discs (electrodes) attached to your scalp. Your brain cells communicate via electrical impulses and are active all the time, even when you’re asleep. This activity shows up as wavy lines on an EEG recording.

An EEG is one of the main diagnostic tests for epilepsy. An EEG can also play a role in diagnosing other brain disorders.

Why it’s done

An EEG can determine changes in brain activity that might be useful in diagnosing brain disorders, especially epilepsy or another seizure disorder. An EEG might also be helpful for diagnosing or treating the following disorders:

  • Brain tumor
  • Brain damage from head injury
  • Brain dysfunction that can have a variety of causes (encephalopathy)
  • Inflammation of the brain (encephalitis)
  • Stroke
  • Sleep disorders

An EEG might also be used to confirm brain death in someone in a persistent coma. A continuous EEG is used to help find the right level of anesthesia for someone in a medically induced coma.

Risks

EEGs are safe and painless. Sometimes seizures are intentionally triggered in people with epilepsy during the test, but appropriate medical care is provided if needed.

How you prepare

Food and medications

  • Avoid anything with caffeine on the day of the test because it can affect the test results.
  • Take your usual medications unless instructed otherwise.

Other precautions

  • Wash your hair the night before or the day of the test, but don’t use conditioners, hair creams, sprays or styling gels. Hair products can make it harder for the sticky patches that hold the electrodes to adhere to your scalp.
  • If you’re supposed to sleep during your EEG test, your doctor might ask you to sleep less or avoid sleep the night before your test.

What you can expect

During the test

EEG electrodesEEG electrodesOpen pop-up dialog box

You’ll feel little or no discomfort during an EEG. The electrodes don’t transmit any sensations. They just record your brain waves.

Here are some things you can expect to happen during an EEG:

  • A technician measures your head and marks your scalp with a special pencil to indicate where to attach the electrodes. Those spots on your scalp might be scrubbed with a gritty cream to improve the quality of the recording.
  • A technician attaches discs (electrodes) to your scalp using a special adhesive. Sometimes, an elastic cap fitted with electrodes is used instead. The electrodes are connected with wires to an instrument that amplifies the brain waves and records them on computer equipment.Once the electrodes are in place, an EEG typically takes up to 60 minutes. Testing for certain conditions require you to sleep during the test. In that case, the test can be longer.
  • You relax in a comfortable position with your eyes closed during the test. At various times, the technician might ask you to open and close your eyes, perform a few simple calculations, read a paragraph, look at a picture, breathe deeply for a few minutes, or look at a flashing light.
  • Video is routinely recorded during the EEG. Your body motions are captured by a video camera while the EEG records your brain waves. This combined recording can help your doctor diagnose and treat your condition.

Ambulatory EEGs (aEEGs), which allow for longer monitoring outside an office or hospital setting, are in limited use. This test can record brain activity over several days, which increases the chances of catching seizure activity. However, compared to inpatient video-EEG monitoring, an ambulatory EEG is not as good at determining the difference between epileptic seizures and nonepileptic seizures.

After the test

The technician removes the electrodes or cap. If you had no sedative, you should feel no side effects after the procedure, and you can return to your normal routine.

If you used a sedative, it will take time for the medication to begin to wear off. Arrange to have someone drive you home. Once home, rest and don’t drive for the rest of the day.

Results

Doctors trained to analyze EEGs interpret the recording and send the results to the doctor who ordered the EEG. Your doctor might schedule an office appointment to discuss the results of the test.

If possible, bring along a family member or friend to the appointment to help you remember the information you’re given.

Write down questions to ask your doctor, such as:

  • Based on the results, what are my next steps?
  • What follow-up, if any, do I need?
  • Are there factors that might have affected the results of this test in some way?
  • Will I need to repeat the test?

Cannabis oil for epilepsy

On 1 November 2018, the Government’s landmark decision to reschedule some cannabis based products for medicinal use, came into force. The change in law means that specialist doctors in the UK can now prescribe medicinal cannabis to people with a limited number of conditions, including epilepsy. Here we explain what the change in law means for people with epilepsy.

What is cannabis?

Cannabis is made up of hundreds of different components. The most well known are two cannabinoids: CBD – cannabidiol – and THC – tetrahydrocannabinol. These are found naturally in the resin of the cannabis plant.

THC is the psychoactive compound in cannabis. It is responsible for the “high” people feel. The legal limit of THC content in a product, as stipulated by the Home Office, is 0.2%.

CBD is not psychoactive and it is thought to be responsible for many of the medical benefits associated with cannabis.

What is medicinal cannabis?

The Government has defined a cannabis-based product for medicinal use in humans as one that:

“Is or contains cannabis, cannabis resin, cannabinol or a cannabinol derivative; is produced for medicinal use in humans and is a medicinal product, or a substance or preparation for use as an ingredient of, or in the production of an ingredient of, a medicinal product”.

Guidance around prescribing cannabis-based products

In August 2019, NICE – the National Institute of Health and Clinical Excellence – announced that it would not be recommending that cannabidiol, a medicinal cannabis in the form of Epidyolex, should be prescribed on the NHS for children with two severe forms of epilepsy. This is on account of the fact that its long-term effect remains unclear.

The body also has concerns about the ‘viability of the economic model’ used by GW Pharma, the company that developed the drug, to establish the cost to be charged to the NHS for it. It concluded that Epidyolex would not, at this stage, be an effective use of NHS resources.

Our Medical Director, Professor Ley Sander, explains why he believes they are right to exercise caution.

The recommended guidelines are still only draft and the consultation closes on 16 September. So there is still time for you to have your say and let them know what you think. Professor Sander will be doing the same. All comments received will be considered by NICE and final guidance is likely to be published in November 2019.

The British Paediatric Neurology Association (BPNA) has drawn up interim guidance around epilepsy on behalf of NHS England.

The Association of British Neurologists (ABN) has also drawn up interim guidelines for the use of cannabis-based products in neurology for adults.

Guidance for other conditions is being drawn up the Royal College of Physicians with the Royal College of Radiologists (RCR) and the Faculty of Pain Medicine of the Royal College of Anaesthetists.

Guidance from the Association of British Neurologists (ABN)

Interim guidance from the ABN states that there is only published evidence for the use of medicial cannabis in Dravet syndrome and Lennox-Gastaut syndrome. Prescriptions should only be for cannabidiol.

Although the label Lennox-Gastaut is often broadly attached to severe epilepsies with compatible seizure types and intellectual disabilities, it is important that there is a clear syndromic diagnosis.

Dosing data for adults is currently very limited, although more information is expected shortly.

Guidance from the British Paediatric Neurology Association (BPNA)

The BPNA guidance states that non-licensed medicinal cannabis should only be considered for children who:

  • have an epilepsy that does not respond to conventional licensed anti-epileptic medications
  • have not responded to the ketogenic diet or who are not suitable for the ketogenic diet
  • who are not candidates for epilepsy surgery.

The BPNA states that the current best evidence for medicinal cannabis is CBD, a highly purified liquid, which has been licensed in the US by the Food and Drug Administration and is currently going through the application process for a licence from the European Medicines Agency.

CBD does not contain any significant amount of THC, the component of cannabis associated with producing a ‘high’.

What is the evidence?

The reason that the BPNA is only recommending CBD is that there is some evidence to show that this newly developed drug can be effective in reducing some type of seizures in Dravet and Lennox Gastaut syndromes.

Three double blind randomised controlled trials of pure CBD in children and young people with these syndromes has shown a greater reduction in monthly seizures compared to placebos. There was also a greater reduction in drop seizures in people taking CBD compared to those on a placebo.  Further open label studies have shown that it may also have an anti-epileptic effect in the epilepsies in general.

What is the evidence around THC?

While some studies have also suggested that THC may have an anti-epileptic effect, animal studies suggest it can also trigger seizures. There is no evidence from randomised controlled clinical trials for products with higher proportions of THC (more than 0.2 per cent).

Concerns have also been raised about the effect of THC on the developing brain in children and young people. Evidence suggests that chronic exposure to THC can affect brain development, structure and mental health.

There is also no good scientific evidence to support suggestions that the addition of THC in combination with CBD increases the efficacy of cannabis-based medicinal products for children.

“Clinicians should not feel under pressure to prescribe cannabis-based medicinal products until they have undergone proper clinical trials,” says the BPNA.

“We recommend that these products undergo randomised clinical trials for efficacy and safety before they are routinely prescribed in the UK. We welcome the rescheduling of these products from Schedule 1 to Schedule 2 that will enable their investigation in clinical trials.”

Children already on products containing THC

The BPNA also recommends that where children are already taking other cannabis-based products that contain higher proportions of THC, they should be transitioned on to CBD until strong evidence for these products can be produced through clinical trials.

The Government has no plans to legalise the use of cannabis for recreational purposes. Possession of cannabis is illegal. This includes cannabis for medical use unless it has been prescribed for you.

Getting a prescription for medicinal cannabis

Cannabis-based medicinal products can only be prescribed by a specialist. A GP cannot prescribe the medication but could refer you to a specialist.

The specialist will discuss all other treatment options with you first before considering a cannabis-based product.

A prescription for medicinal cannabis would only be given when all other treatment options have been tried or are considered unsuitable, and would only be given if the doctor considers it to be in your best interests.

People always have the option of seeking a second opinion.

Health food shops

There is also a wide range of other cannabis products available on the internet and in some commercial outlets such as health food outlets and from cannabis ‘dispensaries’ internationally. These products are of unknown quality and contain CBD and THC in varying quantities and proportions.

MHRA is working with individual companies to ensure that CBD-based products that make medicinal claims should be licensed and meet safety, quality and efficacy standards to protect public health. To date, the MHRA has licensed no other cannabis based medicinal products as medicines. 

Specialist epilepsy nurses

Specialist epilepsy nurses are trained nurses with extra qualifications in neurology, care of a patient with epilepsy and nurse prescribing.

We provide information and advice regarding epilepsy and its management. We can advise patients, their family or carers, other health professionals or other services such as employers about how to manage individual epilepsy needs. We also provide a point of contact between the Wessex Neurological Centre and GPs and other health professionals.

We hold five outpatient clinics a week to review patients after a first seizure, adolescents, vagal nerve stimulation and those with epilepsy that is difficult to control. We offer pre-conception counselling and support clinics. Patients can also access us via phone or email.

How the specialist epilepsy nurses can help 

Some of the issues we provide information or help with most often are

  • understanding and coping with the diagnosis of epilepsy
  • medication management and side effects
  • safety and first aid
  • issues for women (for example, pre-conception counselling, pregnancy)
  • epilepsy surgery
  • driving regulations
  • employment
  • social and leisure activities and travel
  • alcohol
  • national association contact details and local support groups.

Clinical assessment and monitoring

The specialist epilepsy nurses aim to assist patients with all aspects of living with epilepsy. They will discuss any information that has already been given, and review the management of epilepsy. They can also help patients manage side effects of medication and where necessary, adjust the dose. They will discuss the impact of the diagnosis and offer practical advice for managing this. They can also refer patients to other health professionals if necessary. Most importantly, they are here to listen to any questions and concerns.

Information resources

Information is given on an individual basis depending on the patient’s needs. We can discuss issues face to face, over the telephone or by e-mail. We have a large amount of written information on various subjects available for people to take from the outpatients clinic. We also have trained volunteers from the epilepsy information network run by the epilepsy society. 

The epilepsy nursing service also keeps a library of resources in various formats, such as leaflets, books, video tapes, audio cassettes and DVDs, on all aspects of living with epilepsy. These are available to borrow.

Education and training

The epilepsy nursing service is committed to improving and maintaining the standard of care for people with epilepsy.

We regularly run study days for patients and  where relevant, we provide support and training to employers and carers who work with people with epilepsy in the community. 

Voluntary organisations

We maintain strong links with the national associations and regularly teach at their national conferences. We also liaise with the local support groups in our region. Find out more about these in our sources of support.

What Is an EEG (Electroencephalogram)

An EEG, or electroencephalogram, is a test that records the electrical signals of the brain by using small metal discs (called electrodes) that are attached to your scalp. Your brain cells communicate with each other using electrical impulses. They’re always working, even if you’re asleep. That brain activity will show up on an EEG recording as wavy lines. It’s a snapshot in time of the electrical activity in your brain. 

EEG Uses

EEGs are used to diagnose conditions like:

  • Brain tumors
  • Brain damage from a head injury
  • Brain dysfunction from various causes (encephalopathy)
  • Inflammation of the brain (encephalitis)
  • Seizure disorders including epilepsy
  • Sleep disorders
  • Stroke

An EEG may also be used to determine if someone in a coma has died or to find the right level of anesthesia for someone in a coma.

EEG Risks

EEGs are safe. If you have a medical condition, talk with the doctor about it before your test.

If you have a seizure disorder, there’s a slight risk that the flashing lights and deep breathing of the EEG could bring on a seizure. This is rare. A medical team will be on hand to treat you immediately if this happens.

In other cases, a doctor may trigger a seizure during the test to get a reading. Medical staff will be on hand so the situation is closely monitored.

Preparing for an EEG

There are some things you should do to prepare for EEG:

  • Don’t eat or drink anything with caffeine for 8 hours before the test.
  • Your doctor may give you instructions on how much to sleep if you’re expected to sleep during the EEG.
  • Eat normally the night before and day of the procedure. Low blood sugar could mean abnormal results.
  • Let your doctor know about any medications — both prescription and over-the-counter — and supplements you’re taking.
  • Wash your hair the night before the test. Don’t use any leave-in conditioning or styling products afterward. If you are wearing extensions that use glue, they should be removed.