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Microsoft word - treatment guidelines for symptom crisis in juvenile battens disease jan 2011.doc

Treatment Guidelines For
Symptom Crisis In Juvenile Batten’s Disease


All people who have Juvenile Batten’s Disease (JBD) will experience
symptoms of the disease process. These may frequently manifest as
a 'crisis' event combining seizures, Parkinson’s type symptoms, pain
and hallucinations. At Heather House we have gathered together the
incidences and types of symptoms, drug therapies and outcomes to
provide 'narrative evidence' of drug regimes that have proved to be
beneficial in symptom control.
Seizures:

It is very typical in JBD for the person to appear to be experiencing both simple and complex partial seizures, the pattern of which could present as: affecting either the lower or upper limbs in the first instance with 'toe spreading' and upward flexion of the big toes. Seizure activity may also be noticeable in either arm and during the episode some trunk rotation accompanied by a fixed gaze up and slightly to the right, with dilated pupils, may be evident. To control these seizures effectively we would aim to use either: Sodium Valproate (Epilim) or Lamotrigine (Lamictal) in the first instance. We have found that Keppra (Levitiracetam) is not effective in the long term for controlling seizure activity and there is evidence amongst the population at Heather House that this can exacerbate epilepsy. It must be recognised that it is not always possible to enable a person with JBD to be seizure-free, and sometimes we work towards what is considered to be an acceptable level of seizure activity based on the effects of medication on the persons’ skill and functional ability. At Heather House the acceptable level we would aim for would be no more than 1-2 tonic clonic seizures and 4-5 partial seizure episodes of 5-15 minute durations in a month. To control partial seizures as they occur, buccal Midazolam or Lorazepam tablets are often very effective at the onset and in the early stages of each partial seizure. However if these are ineffective or become less effective over a period of time then Paraldehyde 10 mls in 10mls of Arachis oil given rectally usually proves effective. Our protocol is to administer the first dose of any of these ‘when required’ medicines after 5 minutes of seizure activity, and give up to 2 further doses between half an hour to an hour after the previous dose as necessary, until activity calms. We have tried hard over the years to find another less invasive alternative to this but it is always the treatment we revert back to, as it consistently gives the required outcome. Parkinson’s Type Symptoms:
• It is common in JBD for an individual to exhibit some Parkinson’s type symptoms, particularly problems with spatial awareness; the fear of moving and being out of control; and stiffness in muscles, most noticeable in the jaw. In these instances at Heather House we prescribe Co-beneldopa (Madopar) 62.5mgs-125mgs bd. This is not always with the aim of improved mobility but we do find this helps keep the individual ‘grounded’ and helps generate a feeling of safety and wellbeing, which in turn reduces the episodes of hallucination. We would choose to introduce this drug with anti-convulsants and anti-psychotics, if these are not already prescribed, at therapeutic levels. If there is no all round improvement in how the individual copes with being ‘moved and handled’ within a month we would either stop this drug, or add in an anti-anxiety drug such as Lorazepam at a low dose. Pain Relief:
Pain relief is important as we find that individuals will not be able to rationalise pain, and at times they experience expressive dysphasia which inhibits their ability to inform us of pain. This can often present as hallucination or partial seizure type activity. If in doubt about the potential for a person to be experiencing pain, Ibuprofen 400mgs three times a day and Co-codamol 1gram (8/500) up to four times a day for a week can be effective in reducing or eliminating pain and may enable the person to stabilise and regain their normal function. Sometimes we get results that we were not expecting, and then we look for similar outcomes for others when appropriate. For instance one young man developed a large haematoma on his hip following a fall. This person has periodically proved complex to support with medications as he has been unable to tolerate most anti-convulsants and anti-psychotics, and as a result has had more prolonged periods of tonic/clonic seizures and restlessness. He also required full support with eating and drinking and was frequently agitated and unable to concentrate. He was prescribed Tramadol 100mgs four times a day as he appeared to be in pain. With the introduction of Tramadol he became more tolerant and less anxious with less seizure type activity and has been willing to help with daily tasks. He has started to use self-help skills again, such as eating and drinking, washing and dressing. He has been taking this medication for 3 years now, and although it has been reduced, attempts to reduce further have led to a recurrence of all the symptoms and behaviours outlined above. Pain can also be due to gastric reflux, particularly when a gastrostomy or naso-gastric tube is used. To counter this, anti-reflux treatment of Omeprazole (or similar) and a heartburn remedy such as Gaviscon is prescribed, and the use of a tilting bed to ensure the person is in a ‘head up’ position when lying down. Depression is also frequently an issue for people undergoing significant decreases in their skill and mobility levels. Anti depressants such as Citalopram have been commenced with good effect, this has reduced the amount of agitation and ‘panic attacks that occur and reduce the need for reliance on anti-anxiety or anti-psychotics such as Diazepam and Risperidone. Hallucinations:
Hallucinations will occur from time to time and these will normally manifest just prior to an increase in seizures. To treat these episodes we give Risperidone 0.5mg-1.5mg three times a day until symptom control is effective. Usually the individual will present with fear, paranoia, sweating and dilated pupils. It can sometimes be difficult to distinguish between these and complex partial seizures, so good recording of activity, environment and other influences (people) are vital. When the episode of anxiety is past (usually 2-6 weeks) we find that the individual becomes drowsy and experiences loss of skills and motor movements, so we decrease the Risperidone to a level that is therapeutic to them, sometimes withdrawing the drug completely until the next episode. When a person is going through a very destabilising episode of a combination of symptoms we would introduce some or all of the above depending on the individual requirements. Whilst we would rather prescribe one drug at a time, we have to accept that in Juvenile Batten’s Disease the symptoms of seizure, hallucination, pain and Parkinson’s type symptoms can manifest together as one large event and we therefore have to treat many symptoms at the same time. The drug treatment also has to be complimented with an approach and environment that gives empathy, support and a sense of wellbeing and normality. The person needs to be encouraged to take an active part in his/her daily routines as much as possible, needing constantly to be reminded where he/she is in space whenever he/she is being moved, and the individual needs to spend short periods of each day interacting in social environments that are normal for him/her. In our experience these episodes of ‘brainstorming’ when the symptoms of the disease are causing immense problems are worst the first time they happen. Subsequent events are easier to manage as normally there are good therapeutic strategies in place. Episodes generally last between 1-6 weeks, followed by 1-6 months of stability, and this cycle then becomes repetitive. Skill loss is gradual and cannot be measured during a ‘crisis event’ as there is too much abnormal activity occurring. For further information and support or to pursue a referral for a
service at Heather House, please contact:

Sarah Kenrick (RNMH) - Registered Manager SeeAbility Heather House, Heather Drive, Tadley, Hampshire Last Updated: January 2011
copyright SeeAbility 2005 - 2011

Source: http://www.seeability.org/includes/documents/cm_docs/2011/t/1_treatment_guidelines_for_symptom_crisis_in_juvenile_battens_disease_jan_2011.pdf

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