Journal of Huntington's Disease - Volume 13, issue 3

Authors: Saft, Carsten | Jessen, Julia | Hoffmann, Rainer | Lukas, Carsten | Skodda, Sabine

Article Type: Short Communication

Abstract: Speech alterations have been reported in manifest Huntington’s disease (HD) and premanifest mutation carriers (preHD). The aim of our study was to explore these alterations in preHD and whether they can be used as biomarkers. 13 preHD mutation carriers performed reading task, sustained phonation task and syllable repetition tasks at baseline and after 21 months, as well as clinical examination and MRI. Syllable repetition capacity and self-chosen velocity of single syllable repetition differed significantly between time points. There were no changes in clinical ratings or MRI volumetry. Measurements of speech might be sensitive tools for monitoring subclinical changes in preHD.

Keywords: Huntington’s disease, dysarthria, speech, phonation, prodromal biomarker

DOI: 10.3233/JHD-240021

Citation: Journal of Huntington's Disease, vol. 13, no. 3, pp. 369-373, 2024

Authors: Jones, Una | Hamana, Katy | Busse, Monica

Article Type: Research Article

Abstract: Background: Clinical guidelines recommend that people with Huntington’s disease (HD) should exercise to maintain/improve fitness and motor function, yet physical activity levels remain low in this group. Promotion of physical activity is often via care partners with little evidence that they are supported in this role. Objective: The aim was to co-design a resource for care partners of people with HD to support promotion of physical activity. Methods: A four-step co-design approach was used to develop a care partner resource. Five care partners took part in an online workshop exploring experiences and the knowledge, support and …skills needed by care partners to promote physical activity. A co-design team (n  = 7) developed a prototype that was user tested by three people who had attended the workshop. Findings from user testing were used to develop the final resource. Results: An easy to read, image-based prototype was developed that contained tips on planning activity, safety and activity examples. User testing identified the need for grouping of activities suitable for 10, 20, and 30 minutes of available time, information on maintaining and improving activity and re-organization of information to support engagement of activity. Conclusions: A resource for care partners that has been translated into seven languages was developed to promote physical activity. User testing indicated confidence in using the resource and appreciation of the autonomy provided to the person with HD to plan activities. Further work is needed to evaluate the impact of the resource in promotion of physical activity and the impact on care partner burden. Show more

Keywords: Co-design, physical activity, exercise, care partner, Huntington’s disease

DOI: 10.3233/JHD-240014

Citation: Journal of Huntington's Disease, vol. 13, no. 3, pp. 375-383, 2024

Authors: Petrillo, Jennifer | Sawant, Ruta | Elliott, Emma | Cleanthous, Sophie | Rogers, Rebecca | Cano, Stefan | Baradaran, Sarah | Johannesen, Jason

Article Type: Research Article

Abstract: Background: The Huntington’s Disease (HD) Everyday Functioning (Hi-DEF) is a new patient-reported outcome (PRO) instrument designed to measure the impact of cognitive impairment on daily functioning in the early stages of HD. Objective: To assess the measurement properties and finalize item content of the Hi-DEF. Methods: A cross-sectional, observational psychometric validation study was conducted among individuals with early stages of HD at 9 US centers of excellence. Rasch Measurement Theory (RMT) analysis of the initial draft version of the Hi-DEF (47 items) and subscales (i.e., ‘Home’, ‘At work’, ‘Driving’, and ‘Communication’) was conducted to examine measurement …properties including sample-to-scale targeting, suitability of response scale (ordering of response thresholds), scale cohesiveness (item fit), local independence, and person fit. Results: 151 participants (mean age 47 years (SD 12), 59% female) were included. Seven items were removed based on dependency and item fit. The remaining 40-item version of the Hi-DEF demonstrated good measurement properties. Across the four subscales, targeting ranged from 49–70% (72% full scale), reliability ascertained by person separation index ranged from 0.53–0.87 (0.92 full scale), response scales were ordered for 25–100% of items (75% full scale), 0–12% items displayed misfit (2% full scale), and 0–1% (2% full scale) item pairs displayed dependency. Conclusions: Our study supports the psychometric integrity of the Hi-DEF as a reliable and valid new PRO instrument designed to assess the impact of cognitive impairment on daily functioning in the early stages of HD. Future work will evaluate the external validity and utility in clinical trial applications. Show more

Keywords: Huntington’s disease, executive function, activities of daily living, psychometrics, Hi-DEF, patient-reported outcomes

DOI: 10.3233/JHD-240001

Citation: Journal of Huntington's Disease, vol. 13, no. 3, pp. 385-397, 2024

Authors: Song, Wenxin | Daneman, Lauren | Cohen-Oram, Alexis | Aradi, Stephen

Article Type: Letter

Abstract:  Huntington’s disease (HD) is an autosomal dominant disorder that affects the basal ganglia, caused by CAG repeats in the huntingtin gene. Delusional infestation (DI) is a rare psychotic manifestation of the disease. This report presents two cases of HD patients with DI, both middle-aged females. The first patient achieved remission of DI with olanzapine, later cross-tapered to risperidone, but had spontaneous relapses. The second experienced gradual resolution of DI with risperidone in the setting of iron repletion and amantadine discontinuation, although her other psychotic symptoms remained. These cases shed light on an uncommon condition and may help guide understanding of …the most effective treatment for it. Show more

Keywords: Huntington’s disease, delusion, infestation, parasitosis, psychiatry, neurology

DOI: 10.3233/JHD-240013

Citation: Journal of Huntington's Disease, vol. 13, no. 3, pp. 399-401, 2024

Article Type: Meeting Report

DOI: 10.3233/JHD-249003

Citation: Journal of Huntington's Disease, vol. 13, no. 3, pp. 403-403, 2024