Study Protocol for the Development of a European eHealth Platform to Improve Quality of Life in Individuals With Huntington's Disease and Their Partners (HD-eHelp Study): A User-Centered Design Approach

Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease that affects the quality of life (QoL) of HD gene expansion carriers (HDGECs) and their partners. Although HD expertise centers have been emerging across Europe, there are still some important barriers to care provision for those affected by this rare disease, including transportation costs, geographic distance of centers, and availability/accessibility of these services in general. eHealth seems promising in overcoming these barriers, yet research on eHealth in HD is limited and fails to use telehealth services specifically designed to fit the perspectives and expectations of HDGECs and their families. In the European HD-eHelp study, we aim to capture the needs and wishes of HDGECs, partners of HDGECs, and health care providers (HCPs) in order to develop a multinational eHealth platform targeting QoL of both HDGECs and partners at home.Methods: We will employ a participatory user-centered design (UCD) approach, which focusses on an in-depth understanding of the end-users' needs and their contexts. Premanifest and manifest adult HDGECs (n = 76), partners of HDGECs (n = 76), and HCPs (n = 76) will be involved as end-users in all three phases of the research and design process: (1) Exploration and mapping of the end-users' needs, experiences and wishes; (2) Development of concepts in collaboration with end-users to ensure desirability; (3) Detailing of final prototype with quick review rounds by end-users to create a positive user-experience. This study will be conducted in the Netherlands, Germany, Czech Republic, Italy, and Ireland to develop and test a multilingual platform that is suitable in different healthcare systems and cultural contexts.Discussion: Following the principles of UCD, an innovative European eHealth platform will be developed that addresses the needs and wishes of HDGECs, partners and HCPs. This allows for high-quality, tailored care to be moved partially into the participants' home, thereby circumventing some barriers in current HD care provision. By actively involving end-users in all design decisions, the platform will be tailored to the end-users' unique requirements, which can be considered pivotal in eHealth services for a disease as complex and rare as HD

Dysphagia in Huntington's Disease: A Review

Abstract 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. Keywords Huntington's disease Á Dysphagia Á Deglutition Á Deglutition disorders 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. Choreiform movements are irregular and involuntary in HD and involve not only limbs but respiratory and bucolingual muscles, comparable to dancing (chorea = dancing in Greek). 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. Onset of HD on average occurs in the third or fourth decade of life and lasts about 15-20 years [1] Methods Literature searches were performed using OVID Medline -2009), OVID Embase (1985-2009), Omega (1985-2009), PubMed (1985-2009), and EBSCO Cinahl (1985-2009 to identify evidence about the theme of dysphagia in HD. Search terms included aerophagia, aspiration, asphyxiation, chest infection, choking, cineradiography, coughing, deglutition disorders, drinking, dysarthria, dysphagia, eating, drinking, fluoroscopy, food, ingestion, laryngeal chorea, mastication, penetration, phases of ingestion, pneumonia, swallowing, tongue, voice, and voice disorders in HD. The relevant studies Results Five studies The overall conclusion one can draw from these studies is that dysphagic features occur especially in the preparatory oral, oral, and pharyngeal phases of ingestion. The main problems in the preparatory oral phase are the postural instability, rapidly and impulsively consuming food, and poor lingual control. In the oral phase, the main problems are uncoordinated swallow, repetitive swallow, and residue after the swallow. In the pharyngeal phase the main problems are coughing, choking, and aspiration Discussion The techniques used to examine dysphagia in HD are different and only some can be beneficial for patients; therefore, their outcomes can be somewhat questionable. For example, along with the videofluoroscopic swallowing study, Kagel and Leopold [15] used compensatory techniques like reducing chorea by manually positioned extremities, a wedge supporting the midthoracic to lumbar spine, and the clinician giving cues to help the patients maintain an erect trunk and neutral neck postures. Furthermore, before the patients ingested a test substance, the patients were fed a lemon ice bolus. This lemon ice bolus was intended to stimulate oropharyngeal sensory systems and slow oropharyngeal movements. Logemann et al. 123 In our experience we have found similar abnormalities in all the swallowing problems summarized in [22] developed a Swallowing Disturbance Questionnaire (SDQ) for Parkinson's disease (PD). This questionnaire asks about experiencing swallowing disturbances and compares its findings to an objective assessment. This SDQ emerged as a validated tool to detect early dysphagia in PD patients 123 Recommendation The majority of articles that examined therapeutic outcomes for HD were derived from observational studies with few patients and poor methodology. Lack of randomized control trials is apparent. There is further need for research on treatment outcome in HD so that clinicians may use evidence-based practice to assist clinical decision making

Oral feeding in Huntington’s disease: a guideline document for speech and language therapists

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

Palliative care in advanced Huntington’s disease: a scoping review

Abstract Background As Huntington’s disease (HD) is a progressive disease for which there is no cure yet, patients in the advanced stage of HD may benefit from palliative care. Objective To review the literature focusing on palliative care in advanced stage HD, and the level of evidence. Methods Publications between 1993 and October 29th, 2021 from 8 databases (Embase, Web of Science, Cochrane, Emcare, PsycINFO, Academic Search Premier, PMC PubMed Central and Pubmed) were included. The literature was deductively classified based on topics that are part of the definition of palliative care, or as care-related topics that emerged from the literature. Levels of evidence I (high) – V (low) were determined as defined by the Joanna Briggs Institute. Results Our search resulted in 333 articles, 38 of which were included. The literature covered four domains of palliative care: physical care, psychological care, spiritual care, and social care. Four other topics in the literature were: advance care planning, end-of-life needs assessments, pediatric HD care, and need for health care services. Most literature was underpinned by a low level of evidence, except for the topics on social care (Level III-V), advance care planning (Level II-V) and end-of-life needs assessments (Level II-III). Conclusions To deliver adequate palliative care in advanced HD, both general and HD-specific symptoms and problems need to be addressed. As the level of evidence in existing literature is low, further research is essential to improve palliative care and to meet patient’s wishes and needs