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.     

Psychometric properties of the questionnaire of sociocultural influences on the aesthetic body shape model (CIMEC-26) in female Spanish adolescents

The purpose of the present study was to analyse the psychometric properties of the 'Questionnaire of Sociocultural Influences on the Aesthetic Body Shape Model' (CIMEC-26) in a Spanish adolescent population. This questionnaire measures the influence of agents and situations that transmit the current aesthetic model, and assesses environmental influences favouring thinness. The CIMEC-26 was administered to a sample of 4031 female primary and secondary school students ranging in age from 10 to 17 years (M?=?14, SD?=?1.34). Results suggested that the CIMEC-26 has acceptable internal consistency (α?=?.93). The oldest group (15-17 years) had the highest scores on all factors and the highest total scores, suggesting greater influence of the aesthetic body shape model and higher vulnerability to social pressure to achieve it. Factor analysis suggested three moderately interrelated components of the scale. Confirmatory factor analysis showed that both the three-factor solution and the original five-factor structure had good fit indices, although the latter showed the best fit. The CIMEC-26 proved to be an effective instrument for research on the social influence on the aesthetic body model in female adolescents.     

Acoustic markers associated with impairment in language processing in Alzheimer's Disease

This study broaches in a novel way the analysis of cognitive impairment characteristic of the early stages of Alzheimer's Disease (AD). Specifically, we attempt to determine the acoustic speech parameters that are sensitive to the onset of the disease, and their association with the language deficit characteristic of AD. Speech analysis was carried out on 21 elderly patients with AD using Praat software, which analyzes the acoustic components of speech. The data obtained were subjected to stepwise regression, using the overall scores obtained in the test as the criterion variable, and the scores on the frequency, amplitude and periodicity variables as predictors of performance. We found that the percentage of voiceless segments explains a significant portion of the variance in the overall scores obtained in the neuropsychological test. This component seems to be related mainly to the patient's ability in phonological fluency. This finding could permit the creation of a diagnostic test for AD through analysis of the acoustic speech parameters at very low cost in terms of both time and resources.     

Heterosexual romantic relationships, interpersonal needs, and quality of life in prison

The purpose of this study was to investigate the moderating effect of having vs. not having a and quality of life. In-person interviews were conducted with 55 male and 64 female inmates from the Topas Penitentiary (Spain). Higher levels of social loneliness and lower levels of sexual satisfaction were associated with lower levels of quality of life. In addition, the interaction between sexual satisfaction and romantic partner status was significant. Higher levels of sexual satisfaction were associated with higher levels of quality of life only for the group without a partner. These findings support a "bad is stronger than good" principle and indicate the detrimental aspects that can be associated with not having a satisfactory sexual life while incarcerated.     

Screening utility of the social anxiety screening scale in Spanish speaking adolescents

The aim of this study was to analyse the screening utility of the Social Anxiety Screening Scale (SASS/EDAS) in a sample of 227 adolescents with social anxiety disorder and 156 Without it (14-17 years). Results showed that the EDAS subscales (Avoidance, Distress and Interference) scores were reliable in terms of internal consistency (alpha > .80). All the subscales discriminated between adolescents with and without the disorder. They also showed a positive and significant correlation with other empirically validated measures of social anxiety. The three subscales indicated relevant sensitivity (69.16-84.14%), specificity (63.46-66.03%) and areas under the curve (.74-.81%). Binary logistic regression analyses indicated the adequate predictive utility of EDAS subscales, with the Distress subscale as the best diagnostic predictor. The data provide empirical evidence of the usefulness of EDAS as a screener for adolescent social anxiety disorder in terms of reliability, convergent and discriminant validity, diagnostic accuracy and clinical usefulness.     

Self-recognition and self-regulation: the relationship with socialization trajectories and children's sex

The initial process of self development involves interaction with others and the establishment of relationships taking different paths depending on the socio-cultural context. Self-recognition and self-regulation are considered manifestations of this development between 18 and 24 months of age. This study aimed at analyzing the relationship between these two aspects, maternal beliefs about autonomy and relatedness, as well as identifying differences between boys and girls in this developmental stage. Participants were 94 mothers of different educational levels and their children of 17-22 months of age in two Brazilian cities. Socialization Goals Inventory and Parental Practices in the First Year Inventory were used to collect data on mothers' beliefs. Children performed tasks related to self-recognition (the mirror test) and self-regulation (compliance to requests). The group of mothers studied valued both autonomy and interdependence. Children's responses are consistent with a perspective of relational autonomy, which value both independence and interdependence. Differences were found in relation to sex in both self-recognition and self-regulation, and baby girls showed superior performance than boys in both tasks.     

The memory failures of everyday questionnaire (MFE): internal consistency and reliability

The Memory Failures of Everyday Questionnaire (MFE) is one of the most widely-used instruments to assess memory failures in daily life. The original scale has nine response options, making it difficult to apply; we created a three-point scale (0-1-2) with response choices that make it easier to administer. We examined the two versions' equivalence in a sample of 193 participants between 19 and 64 years of age. The test-retest reliability and internal consistency of the version we propose were also computed in a sample of 113 people. Several indicators attest to the two forms' equivalence: the correlation between the items' means (r = .94; p < .001) and the order of the items' frequencies (r = .92; p < .001). However, the correlation between global scores on the two forms was not very high (r = .67; p < .001). The results indicate this new version has adequate reliability and internal consistency (r(xx) = .83; p < .001; alpha = .83; p < .001) equivalent to those of the MFE 1-9. The MFE 0-2 provides a brief, simple evaluation, so we recommend it for use in clinical practice as well as research.     

Psychological morbidity, illness representations, and quality of life in female and male patients with obstructive sleep apnea syndrome

Obstructive sleep apnea syndrome (OSAS) is a sleep-related breathing disorder that affects both women and men. The aim of this study was to characterize and investigate the differences in terms of anxiety, depression, illness perception, and quality of life between female and male OSAS patients from a total of 111 patients (33 women and 78 men) who were recently diagnosed with OSAS in an outpatient clinic of a University Hospital in Portugal. They underwent a standardized protocol that included evaluation to assess of psychological morbidity (anxiety and depression - Hospital Anxiety and Depression Scale), illness representations (Brief Illness Perception Questionnaire), and quality of life (Sleep Apnea Quality of Life Index). The most significant differences between female and male OSAS patients result of apnea/hypopnea index (AHI), after controlling for body mass index (p?相似文献   

Congruent visual information improves traffic signage

In the last five decades, cognitive scientists and the psychologists of reasoning have dedicated a lot of effort designing usable traffic signs. This study investigated the interference effect produced by the position of the sign elements in traffic signage on response accuracy and reaction time. Sixteen drivers performed a flanker interference reaction time task. Incongruent graphical/space solutions, actually used for the airport stack-type sign, lead to increased reaction time and a reduction in the proportion of correct answers. These results suggest that incongruent visual information should be avoided, as this might impair drivers’ performance. These findings provide important information for the specification of future signage design guidelines and for improving road safety.