Monitoring the Motor Phenotype in Huntington’s Disease by Analysis of Keyboard Typing During Real Life Computer Use

2021 ◽  
pp. 1-10
Author(s):  
Christina Lang ◽  
Christopher Gries ◽  
Katrin S. Lindenberg ◽  
Jan Lewerenz ◽  
Stefanie Uhl ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Manifestation ◽  
Real Life ◽  
Fine Motor ◽  
Healthy Controls ◽  
Prodromal Phase ◽  
Cross Sectional ◽  
Keyboard Typing ◽  
Motor Phenotype

Background: Besides cognitive and psychiatric abnormalities, motor symptoms are the most prominent in Huntington’s disease. The manifest disease is preceded by a prodromal phase with subtle changes such as fine motor disturbances or concentration problems. Objective: Movement disorders show a high variation in their clinical manifestation depending on condition and external influences. Therefore, devices for continuous measurements, which patients use in their daily life and which can monitor motor abnormalities, in addition to the medical examination, might be useful. The aim of current scientific efforts is to find markers that reflect the prodromal phase in gene carriers. This is important for future interventional studies, as future therapies should be applied at the stage of neuronal dysfunction, i.e., before the clinical manifestation. Methods: We performed a software-supported, continuous monitoring of keyboard typing on the participants’ own computer to evaluate this method as a tool to assess the motor phenotype in HD. We included 40 participants and obtained sufficient data from 25 participants, 12 of whom were manifest HD patients, 7 HD gene expansion carriers (HDGEC) and 6 healthy controls. Results: In a cross-sectional analysis we found statistically significant higher typing inconsistency in HD patients compared to controls. Typing inconsistency compared between HDGEC and healthy controls showed a trend to higher inconsistency levels in HDGEC. We found correlations between typing cadence and clinical scores: the UHDRS finger tapping item, the composite UHDRS and the CAP score. Conclusion: The typing cadence inconsistency is an appropriate marker to evaluate fine motor skills of HD patients and HDGEC and is correlated to established clinical measurements.

Objective motor phenotype assessment of gait and posture in pre-manifest and symptomatic Huntington's disease

2009 ◽  
Vol 36 (S 02) ◽  
Author(s):  
H Beckmann ◽  
S Rumpf ◽  
N Bechtel ◽  
HW Lange ◽  
C Saft ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Motor Phenotype

scholarly journals Differential Diagnosis of Chorea—HIV Infection Delays Diagnosis of Huntington’s Disease by Years

2021 ◽  
Vol 11 (6) ◽  
pp. 710
Author(s):  
Jannis Achenbach ◽  
Simon Faissner ◽  
Carsten Saft
Keyword(s):  
Hiv Infection ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Onset ◽  
Diagnostic Delay ◽  
Depression Scale ◽  
Cag Repeat ◽  
Psychiatric Disease ◽  
Disease Manifestation ◽  
Cross Sectional

Background: There is a broad range of potential differential diagnoses for chorea. Besides rare, inherited neurodegenerative diseases such as Huntington’s disease (HD) chorea can accompany basal ganglia disorders due to vasculitis or infections, e.g., with the human immunodeficiency virus (HIV). The clinical picture is complicated by the rare occurrence of HIV infection and HD. Methods: First, we present a case suffering simultaneously from HIV and HD (HIV/HD) focusing on clinical manifestation and disease onset. We investigated cross-sectional data regarding molecular genetic, motoric, cognitive, functional, and psychiatric disease manifestation of HIV/HD in comparison to motor-manifest HD patients without HIV infection (nonHIV/HD) in the largest cohort of HD patients worldwide using the registry study ENROLL-HD. Data were analyzed using ANCOVA analyses controlling for covariates of age and CAG repeat length between groups in IBM SPSS Statistics V.25. Results: The HD diagnosis in our case report was delayed by approximately nine years due to the false assumption that the HIV infection might have been the cause of chorea. Out of n = 21,116 participants in ENROLL-HD, we identified n = 10,125 motor-manifest HD patients. n = 23 male participants were classified as suffering from HIV infection as a comorbidity, compared to n = 4898 male non-HIV/HD patients. Except for age, with HIV/HD being significantly younger (p < 0.050), we observed no group differences regarding sociodemographic, genetic, educational, motoric, functional, and cognitive parameters. Male HIV/HD patients reported about a 5.3-year-earlier onset of HD symptoms noticed by themselves compared to non-HIV/HD (p < 0.050). Moreover, patients in the HIV/HD group had a longer diagnostic delay of 1.8 years between onset of symptoms and HD diagnosis and a longer time regarding assessment of first symptoms by the rater and judgement of the patient (all p < 0.050). Unexpectedly, HIV/HD patients showed less irritability in the Hospital Anxiety and Depression Scale (all p < 0.05). Conclusions: The HD diagnosis in HIV-infected male patients is secured with a diagnostic delay between first symptoms noticed by the patient and final diagnosis. Treating physicians therefore should be sensitized to think of potential alternative diagnoses in HIV-infected patients also afflicted by movement disorders, especially if there is evidence of subcortical atrophy and a history of hyperkinesia, even without a clear HD-family history. Those patients should be transferred for early genetic testing to avoid further unnecessary diagnostics and improve sociomedical care.

scholarly journals Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Christoph Ohlmeier ◽  
Kai-Uwe Saum ◽  
Wolfgang Galetzka ◽  
Dominik Beier ◽  
Holger Gothe
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Claims Data ◽  
Routine Care ◽  
Care Utilization ◽  
Research Database ◽  
Cross Sectional ◽  
Case Identification ◽  
Starting Point ◽  
Icd 10

Abstract Background Huntington’s disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. HD is characterized by a triad of cognitive, behavioural and motor symptoms. Evidence on epidemiology and management of HD is limited, especially for Germany. This study aims to estimate the incidence and prevalence of HD and analyze the current routine care based on German claims data. Methods The source of data was a sample of the Institute for Applied Health Research Berlin (InGef) Research Database, comprising data of approximately four million insured persons from approximately 70 German statutory health insurances. The study was conducted in a retrospective cross-sectional design using 2015 and 2016 as a two-year observation period. At least two outpatient or inpatient ICD-10 codes for HD (ICD-10: G10) during the study period were required for case identification. Patients were considered incident if no HD diagnoses in the 4 years prior to the year of case identification were documented. Information on outpatient drug dispensations, medical aids and remedies were considered to describe the current treatment situation of HD patients. Results A 2-year incidence of 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.4–2.4) and a 2-year period prevalence of 9.3 per 100,000 persons (95%-CI: 8.3–10.4) was observed. The prevalence of HD increased with advancing age, peaking at 60–69 years (16.8 per 100,000 persons; 95%-CI: 13.4–21.0) and decreasing afterwards. The most frequently observed comorbidities and disease-associated symptoms in HD patients were depression (42.9%), dementia (37.7%), urinary incontinence (32.5%), extrapyramidal and movement disorders (30.5%), dysphagia (28.6%) and disorders of the lipoprotein metabolism (28.2%). The most common medications in HD patients were antipsychotics (66.9%), followed by antidepressants (45.1%). Anticonvulsants (16.6%), opioids (14.6%) and hypnotics (9.7%) were observed less frequently. Physical therapy was the most often used medical aid in HD patients (46.4%). Nursing services and speech therapy were used by 27.9 and 22.7% of HD patients, respectively, whereas use of psychotherapy was rare (3.2%). Conclusions Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research.

scholarly journals Cognitive and Motor Norms for Huntington’s Disease

2020 ◽  
Vol 35 (6) ◽  
pp. 671-682
Author(s):  
James A Mills ◽  
Jeffrey D Long ◽  
Amrita Mohan ◽  
Jennifer J Ware ◽  
Cristina Sampaio
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Word Reading ◽  
Natural Aging ◽  
Color Naming ◽  
Stroop Interference ◽  
Healthy Controls ◽  
Aging Effects ◽  
Motor Score

Abstract Background The progression of Huntington’s disease (HD) for gene-expanded carriers is well-studied. Natural aging effects, however, are not often considered in the evaluation of HD progression. Objective To examine the effects of natural aging for healthy controls and to develop normative curves by age, sex, and education from the distribution of observed scores for the Symbol Digit Modalities Test, Stroop Word Reading Test, Stroop Color Naming Test, Stroop Interference Test, Total Motor Score, and Total Functional Capacity (TFC) from the Unified Huntington’s Disease Rating Scale (UHDRS) along with a composite score. Methods After combining longitudinal REGISTRY and Enroll-HD data, we used quantile regression and natural cubic splines for age to fit models for healthy controls (N = 3,394; N observations = 8,619). Normative curves were estimated for the 0.05, 0.25, 0.50, 0.75, and 0.95 quantiles. Two types of reference curves were considered: unconditional curves were dependent on age alone, whereas conditional curves were dependent on age and other covariates, namely sex and education. Results Conditioning on education was necessary for the Symbol Digit, Stroop Word, Stroop Color, Stroop Interference, and composite UHDRS. Unconditional curves were sufficient for the Total Motor Score. TFC was unique in that the curve was constant over age with its intercept at the maximum score (TFC = 13). For all measures, sex effects were minimal, so conditioning on sex was unwarranted. Conclusions Extreme quantile estimates for each measure can be considered as boundaries for natural aging and scores falling beyond these thresholds are likely the result of disease progression. Normative curves and tables are developed and can serve as references for clinical characterization in HD.

Early‐Motor Phenotype Relates to Neuropsychiatric and Cognitive Disorders in Huntington's Disease

2020 ◽  
Vol 35 (5) ◽  
pp. 781-788 ◽  
Author(s):  
Parunyou Julayanont ◽  
Kenneth M. Heilman ◽  
Nikolaus R. McFarland
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Cognitive Disorders ◽  
Motor Phenotype

scholarly journals Cross-sectional and longitudinal voxel-based grey matter asymmetries in Huntington's disease

2018 ◽  
Vol 17 ◽  
pp. 312-324 ◽  
Author(s):  
Lora Minkova ◽  
Sarah Gregory ◽  
Rachael I. Scahill ◽  
Ahmed Abdulkadir ◽  
Christoph P. Kaller ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Grey Matter ◽  
Cross Sectional
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