BackgroundWorking memory (WM) deficits have a negative impact on treatment adherence and quality of life. Efficient and effective interventions are needed in order to improve the cognitive functioning of those affected, especially in low-resource communities. Computer-based rehabilitation programmes (CBRP) are low-cost therapeutic approaches for WM deficits. Perceptions and experiences of target users may influence whether CBRP constitute an effective therapeutic option for adults with cognitive impairment in under-resourced environments.AimThe goal of the study was to explore the experiences of a group of volunteers with WM deficits (associated with diagnoses of HIV and schizophrenia), in terms of the perceived barriers they encountered during their participation in a CBRP.MethodsA qualitative, descriptive research design was implemented. Short interviews and field notes were used in order to investigate the experiences of nine participants in relation to the CBRP. The sample included four participants living with HIV and five with schizophrenia, all with WM deficits.ResultsUsing a thematic analysis, eight barriers were identified: unawareness of the cognitive deficit, anticipation of negative results, stigma, difficulties accessing a computer and/or Internet connection, ill health, negative emotional experiences, daily routine challenges and non-conducive or sabotaging environments. A representational model of these barriers is proposed.ConclusionThe implementation of a cognitive rehabilitation strategy should not only take into consideration issues of access to particular strategies and materials but should also be preceded by an exploration of how individual and contextual barriers are experienced by the potential users, as these contribute to the risk of dropout.

The Rey Auditory Verbal Learning Test (RAVLT) is a neuropsychological tool widely used to assess functions such as attention, memory, and learning ability in the auditory-verbal domain. Norms for the test have been developed in many different languages and they show different relationships with demographic variables. The main objective of this research was to develop specific norms for the Venezuelan population, with particular focus on the influences of age, education, gender, and socioeconomic status. A Spanish version of the test was administered to a quota sample of 629 healthy adults. Pearson's correlation analysis (p < .001) showed a significant association between RAVLT performance and age (r = -.401), education (r = .386), and socioeconomic status (r = -.196), but not between RAVLT performance and gender (r = -.054). Due to the strength of the correlations, only age and education were considered in the development of final norms.

Background Huntington's disease like 2 (HDL2) is the most common Huntington's disease (HD) phenocopy in many countries and described as the phenocopy with the greatest resemblance to HD. The current clinical description of HDL2 is based on retrospective data. It is unknown whether HDL2 has clinical features that distinguish it from HD. Objective To describe the HDL2 phenotype and compare it to HD systematically. Methods A blinded cross‐sectional design was used to compare the HDL2 (n = 15) and HD (n = 13) phenotypes. African ancestry participants underwent assessments, including the Unified Huntington's Disease Rating Scale (UHDRS). The UHDRS motor component was video recorded and evaluated by blinded experts and the inter‐rater reliability calculated. Results Both groups were homogeneous in terms of demographics and disease characteristics. However, HDL2 patients presented three years earlier with more prominent dysarthria and dystonia. Raters could not distinguish between the two diseases with a high level of agreement. No significant differences in the TMS between HDL2 and HD were found. In both disorders, disease duration correlated with motor scores, with the exception of chorea. Psychiatric and cognitive scores were not significantly different between the groups. Conclusions The HDL2 phenotype is similar to HD and is initially characterized by dementia, chorea, and oculomotor abnormalities, progressing to a rigid and bradykinetic state, suggesting the UHDRS is useful to monitor disease progression in HDL2. Although HDL2 patients scored higher on some UHDRS domains, this did not differentiate between the two diseases; it may however be emerging evidence of HDL2 having a more severe clinical phenotype.

No abstract

Huntington's Disease-Like 2 (HDL2), caused by a CTG/CAG expansion in JPH3 on chromosome 16q24, is the most common Huntington's Disease (HD) phenocopy in populations with African ancestry. Qualitatively, brain MRIs of HDL2 patients have been indistinguishable from HD. To determine brain regions most affected in HDL2 a cross-sectional study using MRI brain volumetry was undertaken to compare the brains of nine HDL2, 11 HD and nine age matched control participants. Participants were ascertained from the region in South Africa with the world's highest HDL2 incidence. The HDL2 and HD patient groups showed no significant differences with respect to mean age at MRI, disease duration, abnormal triplet repeat length, or age at disease onset. Overall, intracerebral volumes were smaller in both affected groups compared to the control group. Comparing the HDL2 and HD groups across multiple covariates, cortical and subcortical volumes were similar with the exception that the HDL2 thalamic volumes were smaller. Consistent with other similarities between the two diseases, these results indicate a pattern of neurodegeneration in HDL2 that is remarkably similar to HD. However smaller thalamic volumes in HDL2 raises intriguing questions into the pathogenesis of both disorders, and how these volumetric differences relate to their respective phenotypes.