Guidelines For The Later Stages Of Juvenile Batten Disease These guidelines are intended to support families and professionals involved in the care, support and symptom control of young people aged 16 and upward who are experiencing the later stages of Juvenile Batten Disease (JBD). They are by no means exhaustive and are based primarily on 19 years experience of working in this field, and on the continuing work of the team at SeeAbility Heather House, Tadley, Hampshire. Epilepsy In a normal ‘healthy brain’ there are many thousands of messages being transferred electrically by pathways to and from various centres that operate thought processes, movements and reactions on both an involuntary and voluntary level, consciously or subconsciously. In JBD, brain cells gradually deteriorate, which prevents normal nerve pathways from working by blocking routes on the path. The message then has to find different ways around the route and eventually the brain cells send more and more signals leading to lots of random energy being released in lots of different directions at once. When this happens, periodically, the person will have seizures. Sometimes these will be clustered together or be lots of different types and the person will have ‘brainstorms’ that may last for several weeks, and be typified by increased seizures, hallucinations and agitation. During these ‘brainstorms’ quite large areas of the brain will be damaged and when they eventually settle the person will have lost some of their abilities or skills – often the most apparent symptoms are impaired mobility and/or speech.

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It is very important that all seizures are recorded accurately. This will be helpful in indicating how the disease process is working and whether the medication is effective or needs reviewing. Medication Therapy: At Heather House we have significant recorded evidence for seizure control for a total of 19 ( 8 Females,11 Males) people with JBD over a period of 11 years (n.b. no clinical trials have taken place): • Lamotrigine – This has proved effective as first line control for Complex Partial seizures and Tonic/Clonic seizure activity.
Sodium Valproate (Epilim) has proved beneficial as first and second line control for Complex Partial seizures and Tonic/Clonic seizure activity. Our evidence demonstrates that this is particularly effective in the earlier stages of the disease process, and works well as adjunctive therapy with Lamotrigine when seizures become more frequent and complex.
Phenobarbital: in the later stages of the disease process, there is often an increase in seizure activity that requires additional therapy when combinations of the above treatments have not controlled activity to an acceptable level at the highest therapeutic doses. The addition of Phenobarbital has decreased the number and severity of seizures in these cases.
Diazepam is not used as a primary treatment as the above medications have proved effective. In the cases where Diazepam had been prescribed prior to admission, all people had ‘unstable seizure activity’ which was improved by Lamotrigine either being introduced or increased, and the withdrawal of Diazepam showed improvement in alertness and functioning in all cases.
There is documented evidence* to suggest that Carbamazepine increases seizure activity in JBD. In 3 cases Carbamazepine was withdrawn having been prescribed prior to admission, with no increase in seizure activity, and in 2 cases increase in functional ability.
Topiramate - Our evidence suggests that Topiramate decreases functional skills with no real benefit to seizure

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control in the majority of cases, therefore it is not a therapy we would use in the first instance.

*Notes on Batten Disease - Michael Philippart. (From the ‘Illuminator’-Batten Disease Support and Research Association April 1994 edition) Drug Interventions Following Seizures: At SeeAbility Heather House we have, over the past 4 years, adapted the protocols outlined here with respect to drug interventions after seizures for people with JBD: 1. In the later stages of the disease process, P.R.N. (as required) medicines appear to be effective in preventing further seizures within the next 24 hour period. On the whole, people with JBD tend to have no more than one or two seizures a month when they are ‘well’. If they have ‘clusters’ of seizures it is usually an indication of infection, or a deterioration in the underlying condition which requires their anti-convulsants to be reviewed or increased. 2. If an individual is not experiencing regular tonic/clonic seizures (e.g. less than 1 per month) then we do not give any PRN intervention (Diazepam/ Paraldehyde) unless the individual has a second seizure within 24 hours when we give rectal Diazepam as the first drug of choice. This appears effective in the early stages of an epilepsy pattern developing and prevents “clusters” of seizures from occurring. 3. If an individual is experiencing regular tonic/clonic seizures of one a month or more then we intervene immediately a seizure commences with rectal Paraldehyde (starting at 10mls in 10mls Arachis oil for adults). We have found that this consistently prevents further breakthrough seizures within the next 48 hour period. Without this intervention we have noticed subsequent seizures within 12 - 48 hours. 4. We also intervene with rectal Paraldehyde if the individual is having a complex partial seizure that continues for more than 5 minutes. In these cases the seizure continues until medication is absorbed (approximately 20 minutes) which is why we choose to give it early to prevent unnecessary 3

suffering. If these type of seizures do not abate after 20+ minutes we give a further dose of rectal Paraldehyde, and if necessary a dose of Diazepam rectally or via Naso-Gastric tube / Gastrostomy after a further 20 minutes. 5. Midazolam was introduced and prescribed as required for seizure control with 5 people. Initially this was successful, however in each case the efficacy decreased over 1-3 months despite increased doses. We will continue to prescribe (if appropriate) and monitor this for any new people who use the service. We have found that with effective medication regimes of regularly prescribed drugs, repeated PRN doses have only been necessary during initial phases of ‘crisis’.

Management of Factors That May Contribute To Seizures
Low Fluid Level: Ideally the person should have a fluid level of 2 litres a day. This may not be possible always but, if the person’s fluid levels consistently drop below 800mls daily, then this will cause dehydration which will increase the possibility of seizures.
Constipation: When the person becomes constipated (does not have their bowels open for over 3 days), faeces will build up in the lower bowel and begin to decompose. This will be apparent as the person will pass foul liquid which may be confused with diarrhoea. During the decomposition, toxins will be reabsorbed into the blood stream via the wall of the bowel. These toxins will build up in the blood stream, which will not only contribute to increased seizures, but also cause the kidneys to work harder to get rid of the toxins in the urine. Agitation and Panic Attacks As people lose their ability to mobilise and speak clearly and rely more on other people and carers for their daily needs, they may experience agitation which if not supported effectively will lead to panic attacks, where the person will hyperventilate, tremble, become flushed and perspire and will generally be unresponsive to input from others.

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Of 4 females admitted to Heather House with diagnoses of complex epilepsy, it was found that with calm controlled and constant approaches, particular with regard to moving and handling the agitation and panic attacks diminished rapidly and subsequently any convulsion therapies prescribed where reduced significantly in each case, partially complex and tonic clonic seizures reduced from more than 40 per month, to less than 5 per month. Where epilepsy appears to be an issue specifically around moving and handling i.e hosting, using a commode or using shower chair/trolleys, we would advise in the first instance a recorded method of how the person will be constantly supported rather than using medicines. Follow guidelines a - e in Hallucinations below. Hallucinations People with JBD will, from time to time, suffer periods of hallucinations. At SeeAbility Heather House, it is our experience that these hallucinations are closely related to the overall epileptic pattern of the individual. One person supported at Heather House had a long period of hallucinating during one summer, when he believed that people were stalking him, shooting him and staring at him. Unfortunately, hallucinations are invariably frightening and very realistic. Although hallucinations, like seizures, will never be completely prevented, there are some general ‘management’ guidelines that have prevented his hallucinations being as severe and prolonged as they have been in the past. Management Guidelines When People Are Experiencing Hallucinations: 1. Always record each hallucination on the person’s seizure chart. State clearly where they are and what they are doing immediately prior to the hallucination; what form the hallucination takes (particularly body language and facial expressions); how carers interact with the person during the hallucinations and how long the hallucination goes on. 2. The person’s hallucinations may worsen as they lose skills and abilities, particularly their ability to communicate and concentrate, so environmental factors may well antagonise 5

hallucinations (e.g. noise, crowds and prolonged periods of the same activity for 2 hours +). 3. If the person has an hallucination their carers should carry out the following steps: a) Ensure the person is in a quiet environment which they are familiar with e.g. their bedroom. b) Ensure there is only one person talking to them during an hallucination. If other people are present they should remain silent as extra voices will mean more confusion. c) Identify amongst your team how you will approach the person during hallucinations and stick with this approach to maintain continuity. We recommend talking in a quiet, calm and reassuring voice and repeating the same messages rather than trying to engage the person in conversation as they would probably not be able to reply due to the deterioration in their overall condition. d) If the person has to be physically assisted during the hallucinations e.g. from one room to another or from chair to bed, then carers should again act quietly and apply team strategies, as above. Physical manoeuvres are best done quickly, with the person being quietly informed as to what is going on around them. e) It is important that the person is not physically restrained during an hallucination as this will reinforce their fears. If the person’s safety is in doubt they should be allowed to be on the floor where they would be least at risk. Physical contact and reassurance should again be restricted to the main carer. f) Hallucinations can be managed successfully and we would recommend that after 10 minutes has elapsed, then Risperidone 500 mcg can be administered to minimise any distress. This medicine, if effective, works after 15-20 minutes. g) If hallucinations become more of an ongoing problem then the introduction of Risperidone as a regular drug therapy, may prove beneficial. This has proved to be a useful drug for the individuals at Heather House as it prevents the agitation that is a major contributory factor in hallucinations. h) Hallucinations will fluctuate throughout the disease process, and the dose of anti-psychotic medicine may need to be reduced if increased tiredness and lack of function becomes apparent in a person. i) The introduction of another anti-convulsant may be necessary as increased hallucinations usually go along with increased epilepsy.

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Elimination Bladder Function and Potential Bladder Problems: In people with JBD, bladder control diminishes markedly in the later stages but with good management many of the associated bladder problems can be prevented. In a healthy person the bladder function is well regulated. As the bladder fills, nerves attached to it send messages to the brain and are interpreted as the urge to pass urine. In JBD, as the brain cells deteriorate, the messages are not interpreted well so the bladder becomes over-full before it empties. This is termed a ‘neurogenic bladder’. With a neurogenic bladder the individual may also have ‘disassociation’. This means that they may become very agitated and distressed but not be able to say why. This is common in people with JBD who consistently do not pass urine for 8 hours or more. The ongoing physical problems associated with a neurogenic bladder are numerous. In JBD the main problem is that the bladder will lose its elasticity if it is consistently overstretched and will become inefficient when emptying, leaving a residual pool of urine once the person has micturated. This is called an atonic bladder and the residue of urine leads to frequent infections. To assist in maintaining bladder competency: 1. Ensure the fluid intake is between 1½ to 2 litres a day (when possible) and that 400mls of this is cranberry juice - 200mls in the morning and evening. 2. If appropriate the person is encouraged to use the toilet regularly (every 4-6 hours during the day) to maintain good bladder habits. 3. If the person has not passed urine for 12 hours, use a small vibrating cushion (purchased from any ‘special needs’ catalogue) held against their bladder wall while sitting on the toilet as this is very effective at stimulating urination. Bowel Function and Associated Problems:

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As with bladder function, bowel incompetent in people with JBD.

function

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becomes

Constipation is a major problem in the later stages and requires careful management to maintain safety and comfort. It can cause increased epilepsy, agitation, hallucinations and vomiting. As with a full bladder, a full bowel can cause disassociation.

To assist in maintaining bowel competency: 1. Ensure the person receives a well balanced diet with a good fibre intake. 2. The person must have their bowels open at least every third day. Ideally, they should pass soft stools daily or every other day. 3. The person will need aperients such as Movicol daily or twice daily. 4. The person will eventually require suppositories, (Bisacodyl 10mg) every third day as their gut motility slows due to the disease and they may require phosphate enemas.

Eating and Drinking Potential Problems/Needs: During the later stages of JBD, eating and drinking becomes more difficult for the individual and the person will need their carers to become skilled in feeding techniques such as desensitisation, jaw control and lip closure. The person’s carers will also need to have a consistent approach at meal times and ensure the environment is well controlled to enable the person to concentrate. Regular assessments by a Speech and Language Therapist may be beneficial. Psychologically, it is important for the person’s carers not to feel disheartened if they go through periods of not wanting to eat much, as this is not uncommon in JBD. For this reason it will be important for the psychologist involved in their support to liaise with the Speech Therapist, so the team can formulate their own meal time guidelines. The person will benefit from periodic assessments and revision of guidelines by the Speech and Language Therapist in conjunction 8

with the Physiotherapist, who will advise on positioning, and the Dietician who will advise on calorie intake and supplements to the person’s diet. The person should be weighed monthly in order to monitor weight loss/gain. Significant weight loss may be an indication that the person is losing their oral skills and may require alternative feeding through a gastrostomy tube. It is the experience of the team at Heather House that early fitting of a gastrostomy tube while the person is still able to participate in the decision making process is preferable, and supports the person to remain in control. Parkinson’s Symptoms: The onset of mobility problems can be very distressing for the person. At this time anxiety can be seen, particularly around activities such as laying down, getting up, rising from sitting, and starting to walk. Often the person will rationalise these events in a bizarre way that can be confused with hallucinations or night terrors. The medicine Co-Beneldopa (Madopar) is often very effective in prolonging mobility and improving spatial awareness and generally the results can be seen within 24 hours. All of the people with JBD at Heather House are prescribed Co-Beneldopa with some having improvements in mobility and all having improvements in the reduction and severity of hallucinations. The above is a brief outline of some of the symptoms of Juvenile Batten’s Disease and recommendations for management and treatment drawn from current practice at SeeAbility Heather House. 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, Hamsphire RG26 4QR Tel: 0118 9817772 E-Mail [email protected] Last Updated: January 2011 © copyright SeeAbility 2005 - 2011

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