Wilson's disease (WD) is characterized by hepatic, neurological, and/or psychiatric disturbances. In some cases, liver transplantation is indicated. Because psychologists and other health care workers play an increasing role in the evaluation of individuals presenting for transplant, an understanding of the heterogeneous phenotype of WD is important for mental health professionals working in medical settings. This article reviews two cases of patients with WD (one probable, one confirmed) presenting for liver transplantation and a biopsychosocial assessment approach is demonstrated. Patients are presented in terms of medical, psychiatric, and psychosocial history, neuropsychological examination results, and the subsequent indications for liver transplantation. Both patients exhibited neurocognitive and psychiatric symptoms. One patient was determined to be a marginally suitable candidate for transplantation, whereas the other was considered at high risk for negative outcome post-transplant. This article demonstrates the importance of considering phenotypic presentation, neurocognitive function, psychiatric status, and psychosocial circumstances in assessing transplant readiness in patients with WD. A comprehensive and integrative biopsychosocial assessment approach is appropriate for evaluating patients with WD presenting for liver transplantation.
PREDICT-HD is a large-scale international study of people with the Huntington disease (HD) CAG-repeat expansion who are not yet diagnosed with HD. The objective of this study was to determine the stage in the HD prodrome at which cognitive differences from CAG-normal controls can be reliably detected.
Abstract Estimates of premorbid intellect are often used in neuropsychological assessment to make inferences about cognitive decline. To optimize the method of controlling for premorbid intellect in assessments of prodromal neurodegenerative disease, we examined performance on the American National Adult Reading Test (ANART; administered during Years 1 and 3) and the two-subtest version of the Wechsler Abbreviated Scale of Intelligence (WASI; administered in Years 2 and 4) in an ongoing prospective longitudinal study of 371 participants with prodromal Huntington disease and 51 participants with normal CAG repeats. Although both measures performed similarly, the ANART demonstrated slightly lower variability in performance over a 2-year period and had slightly higher test–retest reliability than the WASI. Keywords: Premorbid IQIntelligenceNeuropsychological assessmentAssessmentHuntington diseaseProdromal neurodegenerative disease Acknowledgments We would like to thank the National Institute of Neurological Disorders and Stroke grant # NS040068 and the High Q Foundation for the project entitled, “Neurobiological Predictors of Huntington's Disease (PREDICT-HD).” We would also like to acknowledge support from grant RR00059 from the General Clinical Research Centers Program, National Center for Research Resources, National Institutes of Health. We would like to recognize the National Research Roster for Huntington Disease Patients and Families (HD Roster) (NIH: N01 NS 3 2357) located at Indiana University School of Medicine. The HD Roster has been funded by the NIH since 1979 and serves to recruit patients and families interested in participating in HD research. Notes 1 Controls were selected as the normative sample because manualized norms for both the ANART and the WASI included different corrections. Specifically the WASI controls for age, while the ANART controls for both age and education. 2 This estimate is based on CAG repeats, which is stable, and age, which is constantly changing. 3 Please note that these models account for varying sample sizes across covariates. 4 Please note that these analyses account for varying sample sizes across covariates. 5 In general, individuals choosing to undergo gene testing typically have average to above average education (Quaid & Morris, Citation1993).
Social scientists, like those performing research at the Kinsey Institute for Research in Sex, Gender and Reproduction, may use surveys to gather large amounts of sensitive data. Unlike purely medical-related datasets, these social science datasets tend to be sparse and high-dimensional, which presents opportunities to characterize participants in the dataset in unique ways. These unique characterizations may enable individuals to be linked to external data in ways that have not been previously considered. Therefore, traditional approaches to de-identifying data, such as fulfilling HIPAA requirements, may not be sufficient for preventing the re-identification of participants in large social science datasets.
Previous studies of emotion recognition suggest that detection of disgust relies on processing within the basal ganglia and insula. Research involving individuals with symptomatic and pre-diagnostic Huntington's disease (HD), a disease with known basal ganglia atrophy, has generally indicated a relative impairment in recognizing disgust. However, some data have suggested that recognition of other emotions (particularly fear and anger) may also be affected in HD, and a recent study found fear recognition deficits in the absence of other emotion-recognition impairments, including disgust. To further examine emotion recognition in HD, we administered a computerized facial emotion recognition task to 475 individuals with the HD CAG expansion and 57 individuals without. Logistic regression was used to examine associations of emotion recognition performance with estimated proximity to clinical diagnosis (based on CAG repeat length and current age) and striatal volumes. Recognition of anger, disgust, fear, sadness and surprise (but not happiness) was associated with estimated years to clinical diagnosis; performance was unrelated to striatal volumes. Compared to a CAG-normal control group, the CAG-expanded group demonstrated significantly less accurate recognition of all negative emotions (anger, disgust, fear, sadness). Additionally, participants with more pronounced motor signs of HD were significantly less accurate at recognizing negative emotions than were individuals with fewer motor signs. Findings indicate that recognition of all negative emotions declines early in the disease process, and poorer performance is associated with closer proximity to clinical diagnosis. In contrast to previous results, we found no evidence of relative impairments in recognizing disgust or fear, and no evidence to support a link between the striatum and disgust recognition.
Longitudinal studies of neurocognitive function in prediagnosis Huntington disease (pre-HD) have been few, and duration of follow-up has been brief. In this study, 155 individuals at-risk for HD completed a battery of cognitive and motor tasks at two study visits approximately 10 years apart. Participants were classified as: (1) at-risk, without the CAG expansion (healthy controls, NC; n = 112), or (2) CAG expanded (CAG+; n = 43). To examine the rate of decline at different stages of the pre-HD period, participants in the CAG+ group were further characterized as converters (i.e., individuals who developed manifest HD over the course of the study; n = 21) or nonconverters (n = 22), and their performances were compared. The CAG+ group exhibited faster rates of neurocognitive decline over the course of the study, relative to the NC group. In addition, more rapid decline was associated with closer proximity to estimated age of disease onset in the CAG+ group. Faster rates of motor and psychomotor decline were observed in the CAG+ converter group, relative to the nonconverters. These findings suggest that neurocognitive decline in pre-HD, particularly in motor and psychomotor domains, begins insidiously and accelerates as individuals approach disease onset.