Presymptomatic Testing for Neurogenetic Diseases in Brazil: Assessing Who Seeks and Who Follows through with Testing

Diagnostic tests are available to detect several mutations related to adult-onset, autosomal dominant, neurodegenerative diseases. We aimed to describe our experience in a presymptomatic testing program run by the Brazilian Public Health System from 1999 to 2009. A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington’s disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7. Most were women (70%), married (54%), and had children prior to presymptomatic testing (67%). Their mean age at entrance was 34 (SD = 11 years). Educational level was above the average Brazilian standard. After receipt of genetic counseling, 100 individuals (54%) decided to undergo testing; of these, 51 were carriers. Since no individual returned for post-test psychological evaluation, we conducted a subsequent survey, unrelated to test disclosures. We contacted 57 individuals of whom 31 agreed to participate (24 had been tested, 7 had not). Several ascertainment concerns relating to these numerous losses prevented us from generalizing our results from this second survey. We concluded that: decision-making regarding presymptomatic testing seems to be genuinely autonomous, since after genetic counseling half the individuals who asked for presymptomatic testing decided in favor and half decided against it; general characteristics of Brazilians who sought presymptomatic testing were similar to many European samples studied previously; and individuals at risk for SCA3 may be at greater risk of depression. Although no clear-cut reason emerged for rejection of follow-up psychological sessions after presymptomatic testing, this finding suggests adjustments to our presymptomatic testing program are necessary.     

John Snow's Behaviorsphere

The Psychological Record - The near-legendary narratives of the scientific achievements of John Snow, a pioneer English epidemiologist who famously identified the source of the London's Broad...     

Target-biting behavior of individually and group-housed mice and rats

The effects of housing conditions (individual or grouped) on the biting of an inanimate target by confined male mice and rats were measured. It was observed that, for both mice and rats, individual housing markedly increased the number of target bites per session. These results indicate that the target-biting paradigm is sensitive to those factors responsible for the increase in fighting behavior following individual housing.     

The Tower of London Test: different scoring criteria for diagnosing Alzheimer's disease and mild cognitive impairment

The Tower of London (TOL) is used for evaluating planning skills, which is a component of the executive functions. Different versions and scoring criteria were developed for this task, and some of them present with different psychometrical properties. This study aimed to evaluate two specific scoring methods of the TOL in diagnosing Mild Cognitive Impairment and probable Alzheimer's disease. The TOL total scores from 60 patients of each diagnosis were compared with the performance of 60 healthy-aged controls using receiver operating characteristics analysis and multinomial logistic regression. Krikorian method better diagnosed Alzheimer's disease, while Portellas's was better at discriminating healthy controls from Mild Cognitive Impairment, but were not efficient at comparing this last group with Alzheimer's patients. Regression analysis indicates that in addition to screening tests, TOL improves the classification of the three groups. The results suggest the two scoring methods used for this task may be useful for different diagnostic purposes.     

Carers of adults with mental illness: Comparison of respite care users and non‐users

The aim of this study was to investigate the rate, type and duration of respite care use in carers of an adult with mental illness, and the differences between respite care users and non‐users on demographic, caregiving context and adjustment variables. A total of 106 carers completed a postal survey questionnaire. The majority (76%) of carers who accessed care used it weekly, fortnightly or monthly. The most common types of respite services were in‐home, day programs, and residential respite. The mean duration of respite care periods was 58.18 hr each time respite was used. Compared to respite care non‐users, carers who accessed respite care were more likely to live with their care‐recipient and provide more caregiving. They also reported more benefits associated with their caregiving. Findings suggest that respite care services need to be varied, available for carers on a weekly to monthly basis with a range in duration, but catering for higher use of 2‐day respite periods. Carers who are highly engaged in a range of caregiving tasks and who live with their care recipient are more likely to have a greater need for respite care. Future research should examine the effects of a range of respite care factors on carer adjustment outcomes.