Huntington's disease (HD) is a progressive neurodegenerative autosomal dominant disease characterized by disturbed movements and behavior and cognitive decline. The motor disturbances are both choreiform and hypokinetic. As a result of the combination of these signs, it is known that many patients with HD suffer from dysphagia. Little is known about the frequency and the characteristics of dysphagia in HD. Well-balanced strategies for treatment and prevention of dysphagia in HD are lacking. Therefore, we have performed a detailed survey of the literature. We found that the patient groups studied were heterogeneous and the methods used were highly variable, and no balanced advice for prevention and treatment was systematically proven.

Huntington's disease (HD) is a progressive neurodegenerative autosomal dominant disease characterized by choreatic and hypokinetic movements, disturbed behaviour, and cognitive decline. Pneumonia is the most common cause of death, followed by cardiovasculair diseases. It has been suggested that choking is the causative underlying factor for pneumonia in HD. As a detailed specification of the type of pneumonia has never been performed, we analyzed the records of our Brain Bank containing 224 cases to determine the exact cause of death and type of pneumonia. The conclusion is that the majority (86.8%) of our HD patients where the cause of death could be identified died from aspiration pneumonia. Funding StatementThis study is funded by the Jacques and Gloria Gossweiler Foundation, a non-profit organization under the Swiss law. IntroductionHuntington's disease (HD) is a progressive neurodegenerative autosomal dominant disease characterized by disturbed movements, changes in behaviour, and cognitive decline. Although the motor disturbances are both choreatic and hypokinetic, chorea is the most characterizing. Choreatic movements are irregular, unwanted involving not only the limbs and the trunk but also the respiratory and buccolingual muscles. HD is caused by a CAG repeat expansion of the HTT gene on the short arm of chromosome 4. The mutant protein huntingtin causes neurodegeneration in the brain, particularly in the caudate nucleus and putamen. The mean age at onset is in the third and fourth decade of life and the disease duration about 15-20 years. [7] None of the reported studies mentioned any details about the type of pneumonia. Pneumonia has several causative factors of which aspiration seems an important one. Pneumonia can be classified into different types, such as community-acquired pneumonia (CAP), hospital-acquired pneumonia (HAP), chemical pneumonia, and aspiration pneumonia. Although the exact percentage is unknown, most HD patients have dysphagia, especially in the advanced stage of the disease, therefore, aspiration is the most likely cause of the fatal pneumonia. The aim of the present study is to find out how often aspiration pneumonia is the primary type of fatal pneumonia in HD. Materials and MethodsThe records of all deceased HD patients from the Leiden University Medical Center (LUMC) brainbank in the Netherlands were collected. The diagnosis of HD was confirmed by family history and post-mortem pathological investigation, and since 1993 in most cases by DNA analysis. From all files the following information was collected: DNA confirmation, gender, year of birth, year of death, age at onset, location of death, naturally death, total body autopsy, described primary cause of death, other described underlying causes of death, repeated pneumonias, special remarks. The special remarks contained all available information about the type of pneumonia and the macroscopic description of the content of the lungs at autopsy. The clinical data from the patients were analyzed, when available, espe...

Speech and language therapy has an important role to play in the management of communication problems in Huntington's disease.As the disease progresses the effectiveness of communication becomes increasingly compromised by a combination of changes in motor function, diminishing cognitive linguistic skills and neuropsychiatric changes, such as depression and apathy.Signs and symptoms associated with Huntington's disease are distinctive but there is considerable variation between individuals on the extent, rate and natural course of disability within the disease. For these reasons assessment and review must be comprehensive and consideration should be given to a number of factors such as mood, motivation and behavior, which will be pertinent to performance.As a variety of symptoms can affect communication no single course of treatment will be effective throughout the disease. The consensus of opinion is that the therapy management will vary and that interventions will at different times be rehabilitative, facilitative, informative and supportive.All interventions must be timely and responsive to the changing needs of the individual and to the challenges faced by the family and others.Augmentative and alternative communication can compensate for communication difficulties in Huntington's disease and can increase the individual's chance for participation in daily life but strategies need to be implemented while there is still motivation and learning capacity.It is vital to understand the value and importance in involving family and caregivers in developing and facilitating effective communication strategies. These are well recognized for the positive impact they can have on the overall well being of the individual with Huntington's disease.

SUMMARY Speech and language therapy has an important role in the management of Huntington’s disease (HD). Swallowing difficulties affect most individuals with HD. Throughout the disease process these difficulties require management with timely and effective therapeutic intervention. Currently there are no European guidelines for the assessment and management of swallowing impairments in HD. The European Huntington’s Disease Network (EHDN) Standards of Care Speech and Language Therapy Working Group has brought together expert speech and language therapists from across Europe to produce guidelines to improve the management of swallowing disorders for individuals with Huntington’s disease. The guidelines were developed with the aim of promoting timely and appropriate assessment of the swallowing process and focused management throughout all stages of the disease. Literature was systematically searched in an attempt to ensure that the recommendations are based on sound evidence. Where evidence was lacking, specific guidance is based on expert consensus. The provision of care varies widely between countries in Europe and the implementation of those guidelines should improve the quality of care delivered to individuals with HD.

We developed a valid and reliable 11-item scale to measure the severity of dysphagia in Huntington's disease.