14800-DvRappard

168 Chapter 10 Palliative care Unfortunately, many patients are diagnosed when the disease has already progressed to a point where HCT or gene therapy would no longer be beneficial. For these patients, it is important that they receive the best possible care for their inevitably progressing symptoms, to maintain good quality of life. ITB as potent treatment of spasticity has been described above. Another treatment option for spasticity aside from ITB is a selective dorsal rhizotomy (SDR), in which the posterior lumbosacral rootlets from the spinal cord are partially transected in order to reduce the excitatory sensory input. 14 The advantage of SDR is that it requires only one surgical intervention, whereas ITB requires multiple hospital visits for adjustment and refill of the pump. We have little experience with SDR for our MLD patients, but it has been shown that it can have a positive effect on comfort in non-walking children with spasticity, but pain is not always completely alleviated and daily care problems often persist. 14 Additionally, patients are at increased risk for developing dystonia, which should closely be evaluated when considering SDR. Epilepsy is a frequent symptom, especially in more advanced patients. Frequently occurring seizures should be treated in order to prevent possible co-morbidities as trauma, encephalopathy, aspiration and hospitalization. 15 Seizures are usually well under control with medication. With disease progression, drooling and dysphagia usually occur, which ultimately makes feeding via gastrostomy necessary. Timely placement of a gastrostomy, when first signs of swallowing dysfunction develop, is important to reduce the risk of aspirations and malnutrition. Another frequent problem is sialorrhoea, which is often treated with anticholinergics, of which glycopyrronium is the first choice. In advanced cases glycopyrroniummay no longer be sufficient. Botulinum toxin injections in salivary glands can also be used to suppress salivation. It should be used with caution since a possible side effect is deterioration of the dysphagia and thickening of secretions. 16 Chronic pain and irritability are unfortunately not uncommon, especially in later stages of the disease. One should be aware of possible underlying causes such as neuropathic pain, spasticity, joint dislocation, bone fractures, constipation, bowel obstruction, appendicitis, gastroesophageal reflux and dental injury. 15 Gallbladder colics and urinary retention, the latter due to neuropathy, are other possible causes of pain inMLDpatients. It is also important to distinguish pain from discomfort as a response to strong stimuli or overstimulation. The response to analgesics or sedation can help discriminating between these causes. Sleep can be affected by the irritability, pain and discomfort.