Related Experiment Video
Updated: Oct 26, 2025
Assessing Burrowing, Nest Construction, and Hoarding in Mice
Published on: January 5, 2012
Utility of Huntington's Disease Assessments by Disease Stage: Floor/Ceiling Effects
Daisy Abreu1, Jennifer Ware2, Nellie Georgiou-Karistianis3
1Associação para Investigação e Desenvolvimento da Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
Insights
Many clinical assessments for Huntington's disease (HD) show floor/ceiling effects early or throughout the disease. This impacts the selection of instruments for HD clinical studies and trials.
Area of Science:
- Neurology
- Clinical Research
- Biostatistics
Background:
- Clinimetric properties of clinical assessments are crucial for designing sound clinical studies and trials in Huntington's disease (HD).
- Understanding instrument constraints, such as floor and ceiling effects, is vital for accurate data interpretation across all disease stages.
- Enroll-HD, a global prospective observational study, provides a robust dataset for evaluating clinical assessments in HD.
Purpose of the Study:
- To examine well-established HD clinical assessments for floor/ceiling effects across all disease stages.
- To inform the selection of appropriate instruments for future HD studies and trials.
- To identify gaps in instrument utility throughout the disease life-course.
Main Methods:
- Analysis of publicly available data from 6,614 Huntington's disease gene-expansion carriers (HDGECs) from Enroll-HD.
- Participants were grouped into deciles based on baseline Composite Assessment of Predictive Scores (CAPS).
- Descriptive statistics and a skewness threshold of ±2 were used to identify floor/ceiling effects in 25 outcome measures across motor, function, cognition, and psychiatric/behavioral domains.
Main Results:
- Floor/ceiling effects were observed in early premanifest stages for most motor and functional assessments (e.g., TMS, TFC) and some cognitive tests (e.g., MMSE).
- Assessments like HADS-SIS scales and other cognitive measures showed no floor/ceiling effects across all disease stages.
- Certain measures, including PBA-s, exhibited floor/ceiling effects at all disease stages, while DCL showed expected ceiling effects from onset.
Conclusions:
- Current motor and functional assessments may lack sensitivity in early-stage Huntington's disease.
- The ubiquitous performance of some cognitive and psychiatric scales suggests their utility across the HD spectrum.
- Further development of sensitive instruments is needed, particularly for early-stage motor and functional deficits in HD research.
Abstract:
Introduction: An understanding of the clinimetric properties of clinical assessments, including their constraints, is critical to sound clinical study and trial design. Utilizing data from Enroll-HD-a global, prospective HD observational study and clinical research platform-we examined several well-established HD clinical assessments across all stages of disease for evidence of instrument constraints, specifically floor/ceiling effects, to inform selection of appropriate instruments for use in future studies/trials and identify gaps in instrument utility over the life-course of the disease. Material and Methods: Analyzing publicly available data from 6,614 HD gene-expansion carriers (HDGECs), we grouped participants into deciles based on baseline CAP score, which ranged from 26 to 229. We used descriptive statistics to characterize data distribution for 25 outcome measures (encompassing motor, function, cognition, and psychiatric/behavioral domains) in each CAP decile. A skewness statistic threshold of ±2 was defined a priori to indicate floor/ceiling effects. Results: We found evidence of floor/ceiling effects in the early premanifest stages of disease for most motor and function assessments (e.g., TMS, TFC) and select cognitive tasks (MMSE, Trail Making tests). Other cognitive assessments, and the HADS-SIS scales, performed well ubiquitously, with no evidence of floor/ceiling effects at any disease stage. Floor/ceiling effects were evident at every disease stage for certain assessments, including PBA-s measures. Ceiling effects were apparent for DCL from onset stages onwards, as expected. Discussion: Developing instruments sensitive to subtle differences in performance at the earlier stages of the disease spectrum, particularly in motor and function domains, is warranted.
More Related Videos
07:12Development of a Gaze-Contingent Display Framework Designed for Perceptual and Oculomotor Research with Simulated Central Vision Loss
Published on: April 11, 2025
07:42Dual-Task Stroop Paradigm for Detecting Cognitive Deficits in High-Functioning Stroke Patients
Published on: December 16, 2022