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.
Epilepsy Action has more information about seizure types, learning disabilities, and the EEG.
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 Epilepsy Action.
Other names for Ohtahara syndrome
- Early infantile epileptic encephalopathy with suppression bursts
Ohtahara syndrome
This is a very rare epilepsy syndrome. Seizures start before three months of age. Most babies have an underlying structural brain abnormality. This may be genetic in origin (passed on through the genes), or happen because of brain damage before or around the time of birth.
Symptoms
Seizures often start in the first 10 days of life. Sometimes the mother may realise her baby was having seizures during the last three months of pregnancy, when she sees her baby having seizures after birth. Seizure types are variable, but often include tonic spasms, where the baby suddenly has stiffening of the limbs lasting a few seconds. They will also have focal (partial) motor seizures with jerking of one limb, or one side of the body, lasting seconds to several minutes. Generalised seizures may happen later. After several months, seizures may change to infantile spasms (West syndrome)
Epilepsy Action has more information on seizures and West syndrome.
Diagnosis
A full account of what happens during the seizures is essential for the doctors making the diagnosis.
The EEG test, which records the electrical activity in the brain, is usually abnormal and shows evidence of abnormal discharges, or spikes and waves alternating with periods of looking flat and featureless. This type of record is referred to as suppression-burst.
Epilepsy Action has more information on diagnosis and the EEG.
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 clobazam (Frisium), clonazepam (Rivotril) or vigabatrin (Sabril). Some babies with a focal (in one area only) structural brain abnormality seen on an MRI scan may be able to have epilepsy surgery to remove the abnormal area of brain.
Prognosis (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.
Support organisation
Contact a Family
209-211 City Road
London EC1V 1JN
Phone: 0808 808 3555
Website: www.cafamily.org.uk
Because Epilepsy Action has not written this information, it is not produced under the terms of the Information Standard. Details of the Information Standard are available from www.theinformationstandard.org
Our thanks
Epilepsy Action would like to thank
- Dr Richard Appleton, and Dr Rachel Kneen, consultant paediatric neurologists at Alder Hey Children’s Hospital, Liverpool, UK and
- Dr Stewart Macleod, consultant paediatric neurologist at Royal Hospital for Sick Children, Glasgow, UK.
They have kindly prepared the information on this page. It is based on their own research, experience and expertise.
This information is exempt under the terms of The Information Standard.
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Updated November 2012To be reviewed November 2014
Comments: read the 7 comments or add yours
Comments
My daughter is now 14weeks old and recently been diagnosed with ohtahara syndrome this is because they have eliminated everything else. Me and partner live every day in the unknown, from day six she had a NG tube passed as she has a poor gag reflex, she is always jumpy and jittery and they say her EEG pattern is the dreaded suppression burst! They say her development is very limited although she has started to smile needless to say I choke up every time. All medication that Niamh has had has made no impact, ACTH stopped the jumping and jittering until we started to reduce it and they came back. The reason for me posting on the wall is to find someone else who's going through the same situation as us, ohtahara is very rare so this probably won't be easy. I'm hoping every day they are wrong as they can't give us a 100% yes answer but you also have to live in the real world. If anyone can help I would be grateful.
Kate
Hi Kate,
I have an almost 11month old daughter and the neuro advised me today that she also has ohtahara syndrome. They are still doing tests to find the underlying metabolic disorder.... which is proving very difficult because so far her tests have come back normal. Like yourself we are living day by day. My daughter is on topamax, prendisolne and clonazepam, so far it hasnt worked, the prendisolne got increased today. She is also tube fed but only just a recent thing, up until then she was bottle fed. We are now on the waiting list for a peg. She is also smiling and now throws in a little giggle every now and then. She doesnt cry or make much noise and is very floppy, still doesnt hold her head up or sit up or anything like that. But she is a beautiful, cheeky little girl with her own personality.
Dear Kate,
My 21 months old son was diagnosed with Ohtahara Syndrome at the age of 12 weeks. We've tried so many anticonvulsants and vitamins to no avail. He's presently on Clobazam, Phynobarbitone, Lamotrigine, Carbamazepine and he has been seizure free for 2 months. He has severe developmental delay, unsafe swallow, reflux, visual and hearing impairment. He's fed through a gastrostomy tube. He has 2 MRI scans, which were all normal. He has poor muscle tune and no head control.
We take each day as it comes and hope for a miracle to happen.
All the best.
Dear Kate and Kylee
A colleague told me that there were some mums on this website who also have with children with OS, so I thought I'd post a message here. Like you say, it seems to be a pretty rare condition so there can't be too many families like us going through this exact thing.
Our beautiful boy is now 13 weeks old and was diagnosed at around 4 weeks. We'd already had a tough early start, as he had been having seizures from birth but, needless to say, our world was shattered with the diagnosis - which was confirmed a fortnight later.
Like you, we very much are trying to live day to day, and find things that he might enjoy, but it is tough - very tough sometimes. Seeing your child in distress and being able to do next to nothing about it it totally heart-breaking - but you don't need me to tell you that. Anyway, I've registered on forum4e if you want to keep in touch there maybe?
Laura
ps. Hang in there.
My neice Meesha was diagnosed with OS @ 3months of age and like you all we were told that there is very little known about this and , we woud be lucky if Meesha lived past 4yrs. She is fifteen now and very precious to us all. Originally we were told that she would be tube fed and would have limited vision, Meesha is long sighted and is eats what we eat although in a mashed form, she can also sit unaided for short periosd of time also. Whilst Meesha is totally dependant on her family 24hours day, she is a happy child who has her own little way of comunicating what she wants. Meesha has all the ailments that you describe and of late hasn't been too well, with episodes of lifelesness for no apparent reason. What we have been told is that this may be a further symptom of OS but because she has long outlived (thank god) the expected age, they are unsure of how to treat her and we will have to wait and see.
Meesha's medication is Colozapem, Lamotrigine and Epilim, others have been tried but this combination seems to have maintained her condition.
One thing that helped with developing Meesha' skills was a physiotherapy centre called Brainwave which is based in Somerset. It is a charitable organisation which develops a programme which is then done at home. It is hard going and can be very intensive but is well worth the reward we had.
The last fifteen years haven't been easy particularly for my sister and her husband, but Meesha is a child who has brought us so much joy and hopefully will continue to do so for a while yet. We wouldnt change her for the world.
hello to all, my son was diagnosed with Ohtahara syndrome last year. I found this page today and read your comments. My prayers are with you and your children. My husband and I started an organization regarding OS-support of families, awareness, and research. I would like to share with you all. www.ohtahara.org
we are also on facebook and there is an Ohtahara Syndrome facebook group as well that has been very helpful and supportive to us. I wanted to share this here so other families diagnosed earlier or in the future can find more support and information.
hi everyone sorry for the year long reply, i forgot i even posted on here until i read this and i was thinking im sure thats me. Niamh is still here and fighting, i wouldnt change her for the world! hope everyone is well im on facebook daily and i would love to catch up with you all. my name is katiellen griffin.
Kate