Self-awareness of Motor Dysfunction in Patients with Huntington's Disease in Comparison to Parkinson's Disease and Cervical Dystonia

Sitek, Emilia J.; Sołtan, Witold; Wieczorek, Dariusz; Schinwelski, Michał; Robowski, Piotr; Reilmann, Ralf; Guzińska, Katarzyna; Harciarek, Michał; Krysa, Wioletta; Sławek, Jarosław

doi:10.1017/s1355617711000725

Cited by 68 publications

(75 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, since HD is a neurodegenerative condition, individual’s in the later stages often exhibit anosognosia, or a lack of insight into one’s own symptoms and deficits (53–55). Anosognosia can compromise the reliability of a PRO, highlighting the importance of capturing information from another source (i.e., ClinRO and/or ObsRO).…”

Section: Discussionmentioning

confidence: 99%

Understanding the Outcomes Measures used in Huntington Disease Pharmacological Trials: A Systematic Review

Carlozzi

Miciura

Migliore

et al. 2014

Journal of Huntington's Disease

View full text Add to dashboard Cite

Background:The identification of the gene mutation causing Huntington disease has raised hopes for new treatments to ease symptoms and slow functional decline. As such, there has been a push towards designing efficient pharmacological trials (i.e., drug trials), especially with regard to selecting outcomes measures that are both brief and sensitive to changes across the course of the disease, from subtle prodromal changes, to more severe end-stage changes. Objectives: Recently, to aid in efficient development of new HD research studies, the National Institute of Neurological Disorders and Stroke (NINDS) published recommendations for measurement selection in HD. While these recommendations are helpful, many of the recommended measures have little published data in HD. As such, we conducted a systematic review of the literature to identify the most common outcomes measures used in HD clinical trials. Methods: Major medical databases, including PubMed, Embase, CINAHL, and the Cochrane Central Register of Controlled Trials, were used to identify peer-reviewed journal articles in English from 2001 through April 2013; 151 pharmacological trials were identified. Results: The majority of HD clinical trials employed clinician-reported outcomes measures (93%); patient reported outcome measures (11%) and observer reported outcome measures (3%) were used with much less frequency. Conclusions: We provide a review of the most commonly used measures across these trials, compare these measures to the clinical recommendations made by the NINDS working groups, and provide recommendations for selecting measures for future clinical trials that meet the Food and Drug Administration standards.

show abstract

Section: Discussionmentioning

confidence: 99%

Understanding the Outcomes Measures used in Huntington Disease Pharmacological Trials: A Systematic Review

Carlozzi

Miciura

Migliore

et al. 2014

Journal of Huntington's Disease

View full text Add to dashboard Cite

show abstract

“…These regions were previously implicated in studies of impaired self-awareness in neurodegenerative diseases, even in studies investigating diverse objects of self-awareness such as movement, emotion, and cognition (Salmon et al, 2006;Shibata et al, 2008;Hornberger et al, 2014). Interestingly, self-awareness of abnormal movements is more impaired in patients with Huntington's disease than those with Parkinson's disease, a difference attributed to the greater pathology of orbitofrontal-limbic regions in Huntington's disease (Sitek et al, 2011). The ventromedial and ventrolateral OFC are represented in two distinct networks involved in different aspects of processing the personal salience of information.…”

Section: Reward and Self-awarenessmentioning

confidence: 99%

Self-awareness in neurodegenerative disease relies on neural structures mediating reward-driven attention

Shany‐Ur

Lin

Rosen

et al. 2014

Brain

111

108

View full text Add to dashboard Cite

Accurate self-awareness is essential for adapting one's tasks and goals to one's actual abilities. Patients with neurodegenerative diseases, particularly those with right frontal involvement, often present with poor self-awareness of their functional limitations that may exacerbate their already jeopardized decision-making and behaviour. We studied the structural neuroanatomical basis for impaired self-awareness among patients with neurodegenerative disease and healthy older adults. One hundred and twentyfour participants (78 patients with neurodegenerative diseases including Alzheimer's disease, behavioural variant frontotemporal dementia, right-temporal frontotemporal dementia, semantic variant and non-fluent variant primary progressive aphasia, and 46 healthy controls) described themselves on the Patient Competency Rating Scale, rating observable functioning across four domains (daily living activities, cognitive, emotional control, interpersonal). All participants underwent structural magnetic resonance imaging. Informants also described subjects' functioning on the same scale. Self-awareness was measured by comparing self and informant ratings. Group differences in discrepancy scores were analysed using general linear models, controlling for age, sex and disease severity. Compared with controls, patients with behavioural variant frontotemporal dementia overestimated their functioning in all domains, patients with Alzheimer's disease overestimated cognitive and emotional functioning, patients with right-temporal frontotemporal dementia overestimated interpersonal functioning, and patients with non-fluent aphasia overestimated emotional and interpersonal functioning. Patients with semantic variant aphasia did not overestimate functioning on any domain. To examine the neuroanatomic correlates of impaired self-awareness, discrepancy scores were correlated with brain volume using voxel-based morphometry. To identify the unique neural correlates of overlooking versus exaggerating deficits, overestimation and underestimation scores were analysed separately, controlling for age, sex, total intracranial volume and extent of actual functional decline. Atrophy related to overestimating one's functioning included bilateral, right greater than left frontal and subcortical regions, including dorsal superior and middle frontal gyri, lateral and medial orbitofrontal gyri, right anterior insula, putamen, thalamus, and caudate, and midbrain and pons. Thus, our patients' tendency to under-represent their functional decline was related to degeneration of domain-general dorsal frontal regions involved in attention, as well as orbitofrontal and subcortical regions likely involved in assigning a reward value to self-related processing and maintaining accurate self-knowledge. The anatomic correlates of underestimation (right rostral anterior cingulate cortex, uncorrected significance level) were distinct from overestimation and had a substantially smaller effect size. This suggests that underestimation or 'tarnishing' may be influ...

show abstract

“…6 Impaired self-awareness of the movement disorder is greater in HD than in Parkinson disease. 7 Patients with HD have impaired awareness of their cognitive, emotional, and functional capacity compared with companion ratings and objective assessments. 7,8 The PREDICT-HD Study is a longitudinal observational investigation of those with the HD mutation but who do not meet criteria for a diagnosis of HD at study entry.…”

mentioning

confidence: 99%

“…7 Patients with HD have impaired awareness of their cognitive, emotional, and functional capacity compared with companion ratings and objective assessments. 7,8 The PREDICT-HD Study is a longitudinal observational investigation of those with the HD mutation but who do not meet criteria for a diagnosis of HD at study entry. 9 In an earlier study of a subset of the PREDICT-HD sample, mutation carriers had significantly more frontal behaviors than noncarriers and a greater discrepancy in reporting frontal behaviors from the companion report in those closest to phenoconversion, consistent with unawareness.…”

mentioning

confidence: 99%

Unawareness of motor phenoconversion in Huntington disease

McCusker¹,

Gunn

Epping

et al. 2013

Neurology

View full text Add to dashboard Cite

Objective: To determine whether Huntington disease (HD) mutation carriers have motor symptoms (complaints) when definite motor onset (motor phenoconversion) is diagnosed and document differences between the groups with and without unawareness of motor signs. Methods:We analyzed data from 550 HD mutation carriers participating in the multicenter PREDICT-HD Study followed through the HD prodrome. Data analysis included demographics, the Unified Huntington's Disease Rating Scale (UHDRS) and the Participant HD History of symptoms, selfreport of progression, and cognitive, behavioral, and imaging measures. Unawareness was identified when no motor symptoms were self-reported but when definite motor HD was diagnosed.Results: Of 38 (6.91%) with onset of motor HD, almost half (18/38 5 47.36%) had no motor symptoms despite signs of disease on the UHDRS motor rating and consistent with unawareness. A group with motor symptoms and signs was similar on a range of measures to the unaware group. Those with unawareness of HD signs reported less depression. Patients with symptoms had more striatal atrophy on imaging measures.

show abstract

Self-awareness of Motor Dysfunction in Patients with Huntington's Disease in Comparison to Parkinson's Disease and Cervical Dystonia

Cited by 68 publications

References 36 publications

Understanding the Outcomes Measures used in Huntington Disease Pharmacological Trials: A Systematic Review

Understanding the Outcomes Measures used in Huntington Disease Pharmacological Trials: A Systematic Review

Self-awareness in neurodegenerative disease relies on neural structures mediating reward-driven attention

Unawareness of motor phenoconversion in Huntington disease

Contact Info

Product

Resources

About