World Congress 2013 – Therapies

Management of Behavioral Problems in HD (David Craufurd, United Kingdom)^

Behavioral problems have a large effect on the quality of life for an HD patient. They may include depression, suicide, anxiety, agitation, irritability, impulsive aggressive, apathy, perseveration, psychotic symptoms, disturbed sleep patterns, and OCD; the most common symptoms are fatigue and lack of initiative or perseverance. Often, these symptoms can become more distressing than the cognitive and motor symptoms. While cognitive and psychological symptoms have a far greater impact on Functional Capacity, both sets of symptoms respond to treatments and medications available now.

Dr. Craufurd explained that depression and irritability remain at relatively equal levels throughout different stages, but anxiety is often more prevalent in late-stage HD. Treatments vary from person to person. Depression in HD patients often responds well to conventional antidepressant medication. Selective serotonin reuptake inhibitors, at higher doses, can be helpful for irritability. Physicians and other medical professionals must be aware that relapse often occurs when treatment stops. In addition to medication, general psychiatric support is needed, making a great argument for beginning cognitive behavioral therapy during early stages of the disease.

Treatment of apathy is not always pharmological, but rather, it requires psychoeducation within structured environments such as adult day care and exercise programs. Physicians should avoid the use of dopamine blocking or depleting drugs in excess as neuroleptics and tetrabenazine might worsen apathy.

One should always consult their medical professional before beginning any course of medical treatment.

Deep Brain Stimulation in HD (Binit Shah, USA)^

Many HD patients experience a symptom set known as chorea, a random, involuntary arrhythmic set of movements of the face, trunk, and limbs. Chorea is thought to be a loss of striatal GABAergic inhibitory projections to the Globus pallidus externa. While pharmalogical treatments such as tetrabenazine exist, surgical treatment for chorea has become available in recent years.

Surgery to treat chorea often involves making legions in the pallidum of the brain, known as a pallidotomy. During this procedure, an electrode is inserted into the brain, heated up, and then used to target specific nuclei. The other form of brains surgery, deep brain stimulation, uses electrical fields to attack its targets. Results essentially decrease inhibition of indirect pathways, which lead to the trademark excessive moments.

Deep Brain Stimulation (DBS) is a surgical implantation of electrodes into deep brain structures while patent is awake. Connection and implementation of a pulse generator occur under general anesthesia.

As with any brain surgery, there are certainly risks, as well as candidacy factors. While DBS and pallidotomies can have immediate results, a “honeymoon effect” can occur, in which results are not long lasting. To be a candidate for this type of surgery, one must express appropriate motor symptoms that are less prominent than ataxia or dystonia. The patient cannot have severe impairments to cognitive or physiological functions as the patient must be actively engaged in the operating room and programming period. It is unclear whether these procedures are associated with adverse cognitive effects. While DBS and pallidotomy can provide some relief, it has no impact on the slowing or stopping of the progression of Huntington’s disease. Other motor features will still express and cognitive/psychological symptoms can predominate. Unfortunately, it is costly as well and is not covered by many insurance plans.

Swallowing and Nutrition (Francis Walker,US)^

Huntington’s disease creates a metabolic inefficiency within an individual’s body. While appetite, food consumption and energy consumption increase in HD, weight loss is often present. Weight loss, especially in late stages, is often due to swallowing and increased movements. As for earlier stages, the causes are unclear. However, increased CAG length is associated with lower weight in HD patients.

Many problems arise with swallowing. Mylohyoid and geniohyoid muscle contractions within the throat are erratic and uncontrollable. This can lead to a delay in swallowing, retention of food in the mouth, incomplete or repeated swallows, and a lack of coordination between speaking, swallowing, and breathing. Additionally, impulsivity and eating too fast cause choking hazards. Chorea and impersistence of the tongue and pharynx result in a spillage of food.

Signs of trouble swallowing include repeated throat clearing, coughing, “wet mouth” speaking tones, progressive slowing of feeding, regurgitation, and congestion.

There are certain methodologies that can be used to ease difficulties associated with eating. In the early stages of the disease, avoid excessive eating. If weight loss is prominent, physicians should look for signs of gastritis or depression. During mid-stages, develop strategies to slow down and create smaller portions. Increased calories within meals as well as regular meal routines can help. In late stages, high-fat meals are essential for calories.

Below is a list of other tips and hints for caregivers responsible for HD patients’ meals:
• Use gravy sauces or condiments with dry foods.
• Crush medications in apple sauce.
• Avoid distractions and talking while eating.
• Learn the Heimlich maneuver.
• Place food on the back of the molars if the patient has trouble maneuvering food within the mouth.
• Use thickened liquids.
• If gurgling or wet sounds occur, ask the patient to cough.
• Make sure food is swallowed. Try swallowing twice, if needed.

Late stage treatment options and wishes in relation to quality of life (Raymund Roos, Netherlands)^

End-of-life treatments and plans can be difficult for families to think about, let alone plan. HD patients face a variety of dilemmas such as pneumonia, the decision to insert a feeding tube, use of deep sedation, and even, at times, physician assisted suicide or euthanasia.

The most common causes of death for HD patients include pneumonia, choking, suicide and euthanasia. It is important for medical professionals to understand the challenges their patients face and, if applicable, in their state or country, know the options and procedures if the patient requests death with dignity. The criteria for ending life include 1) voluntary participation, 2) suffering unbearably without relief, 3) a physician must have informed knowledge of the situation, 4) no reasonable or alternative solution exists, and 5) the procedure is performed professionally and carefully.

Dr. Raymund Ross conducted a survey study in the Netherlands, where the Termination of Life and Request and Assisted Suicide Act legalizes euthanasia under strict conditions. The aim of the study was to determine whether there were any end-of-life wishes present in Dutch HD patients. Furthermore, he attempted to understand if certain disease characteristics contributed to these wishes.

75% of survey participants indicated that they had thoughts about end-of-life alternatives due to the loss of their personal dignity. Often these patients had been exposed to family members who had suffered an earlier fate, which influences the patient’s decision as he/she understands the disease progression.

Dr. Raymund Ross explored the results of discussion of euthanasia with patients, which often decreased the amount of follow-through from the patient. He also encouraged physicians to take initiative to talk to patients about end-of-life matters early on, as to not complicate matters for their caregivers when the patient can no longer make decisions for his or herself.

Further Reading^

1. “Hereditary Disease Foundation – Predictive Test Guidelines.” Hereditary Disease Foundation. N.p., n.d. Web. 17 Jan. 2014. .
2. Semaka, A., L. Balneaves, and M. Hayden. “”Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease.” Journal of Genetic Testing (2013): 200-17. Print.
3. HSG Pharos Investigators. “At Risk for Huntington Disease: The PHAROS (Prospective Huntington At Risk Observational Study) Cohort Enrolled.” JAMA Neurology63.7 (2006): 991-96. Print.
4. Tabrizi Et Al. “Potential Endpoints for Clinical Trials in Premanifest and Early Huntington’s Disease in the TRACK-HD Study: Analysis of 24 Month Observational Data.” The Lancet 11.1 (2012): 42-53. Print.