Action plans internally generated (IG) from memory are thought to be regulated by the supplementary motor area (SMA), whereas plans externally guided (EG) online using sensory cues are believed to be controlled by the premotor cortex. This theory was investigated in an event-related fMRI study that separated the time course of activation before and during movement to distinguish advance planning from online control. In contrast to prevailing theory, the SMA was not more important for online control of IG actions. EG movement was distinguished from IG movement by greater activation in a more distributed right hemisphere parietal-frontal network than previously reported. Comparisons between premovement and movement periods showed that frontostriatal networks are central for preparing actions before movement onset. However, unlike cortical and cerebellar regions, the basal ganglia exhibited planning-related activity before, but not during, movement. These findings indicate that the basal ganglia mediate planning and online control processes in different ways and suggest a specific role for the striatum in internally planning sequences of actions before they are implemented.

Purpose

Huntington disease (HD) is a chronic, debilitating genetic disease that affects physical, emotional, cognitive, and social health. Existing patient-reported outcomes (PROs) of health-related quality of life (HRQOL) used in HD are neither comprehensive, nor do they adequately account for clinically meaningful changes in function. While new PROs examining HRQOL (i.e., Neuro-QoL-Quality of Life in Neurological Disorders and PROMIS-Patient-Reported Outcomes Measurement Information System) offer solutions to many of these shortcomings, they do not include HD-specific content, nor have they been validated in HD. HDQLIFE addresses this by validating 12 PROMIS/Neuro-QoL domains in individuals with HD and by using established PROMIS methodology to develop new, HD-specific content.

Methods

New item pools were developed using cognitive debriefing with individuals with HD, and expert, literacy, and translatability reviews. Existing item banks and new item pools were field tested in 536 individuals with prodromal, early-, or late-stage HD.

Results

Moderate to strong relationships between Neuro-QoL/PROMIS measures and generic self-report measures of HRQOL, and moderate relationships between Neuro-QoL/PROMIS and clinician-rated measures of similar constructs supported the validity of Neuro-QoL/PROMIS in individuals with HD. Exploratory and confirmatory factor analysis, item response theory, and differential item functioning analyses were utilized to develop new item banks for Chorea, Speech Difficulties, Swallowing Difficulties, and Concern with Death and Dying, with corresponding six-item short forms. A four-item short form was developed for Meaning and Purpose.

Conclusions

HDQLIFE encompasses both validated Neuro-QoL/PROMIS measures, as well as five new scales in order to provide a comprehensive assessment of HRQOL in HD.