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 Five Facets Mindfulness Questionnaire (FFMQ) in a meditating and a non-meditating sample

The factor structure, internal consistency, construct validity, and predictive validity of the Dutch version of the Five Facet Mindfulness Questionnaire (FFMQ-NL) were studied in a sample of meditators (n = 288) and nonmeditators (n = 451). A five-factor structure was demonstrated in both samples, and the FFMQ-NL and its subscales were shown to have good internal consistencies. Meditators scored higher on all facets of the FFMQ-NL than the participants in the nonmeditating sample. For both samples, expected negative correlations between most mindfulness facets (all except for the Observing facet) and the constructs of alexithymia, thought suppression, rumination, worry, and dissociation were found. The Observing facet of the FFMQ-NL showed an unexpected positive correlation with thought suppression in the nonmeditating sample. Furthermore, as expected, mindfulness facets were negatively related to psychological symptoms, and all mindfulness facets except for Observing and Describing significantly predicted psychological symptoms. Overall, the Dutch FFMQ demonstrated favorable psychometric properties, commensurate with its (original) English language version.     

Lesbian, Gay, and Bisexual Identity Scale (LGBIS): construct validation, sensitivity analyses and other psychometric properties

According to Mohr and Fassinger (2006), identity is seen as both self-identification and collective identification with values, beliefs, traits or behaviours and attachments. Their Lesbian, Gay, and Bisexual (LGB) multidimensional identity model accounts for important variables regarding the constitution of identities. This model not only accesses numerous dimensions of the lives of LGB individuals, but is also based on a body of research that recognizes how LGB difficulties are caused by societal intolerance and marginalization (Mohr & Fassinger, 2000). The Lesbian, Gay, and Bisexual Identity Scale (LGBIS; Kendra & Mohr, 2008) constitutes an operationalization of this multidimensional model, and the aim of this article is to present its construct validity by analysing its factor structure using a sample of Portuguese lesbian, gay and bisexual participants. Results from exploratory and confirmatory factor analyses, as well as from factor invariance analysis across sub-samples are presented. In a general way, the factor structure obtained in this study follows the original proposal of Kendra and Mohr's (2008) LGBIS. Moreover, scale sensitivity analyses are presented in order to check for eventual differences in the factor structure and/or factor intercorrelations regarding participant gender and sexual orientation. These results are then discussed in the light of LGB identity models.     

Anxiety, depression and coping: CDI, MASC and CRI-Y for screening purposes in schools

This study used depression (CDI - Kovacs, 1981), anxiety (MASC - March, 1997) and coping strategy (CRI-Y - Moos, 1993) scales and studied the fitness and discriminant validity of reduced versions. The sample consisted of 916 Portuguese pupils, 54.3% feminine, aged 10 to 21 years old. The participants were selected from a set of public schools nation-wide. Two classes were chosen from the 5th to the 12th grades. A set of principal component analyses was carried out in a randomly chosen sample (n = 394) and all the three reduced measures were found to be strongly correlated with the previous. Confirmatory factor analyses (CFA) using the other part of the sample (n = 522) revealed adjustment indexes suggesting a good fit for both the whole model and gender and age groups separately. All scales revealed a good internal consistency. Globally, girls were more anxious and developed more coping strategies than boys. Older students tended to be less depressed, while younger adolescents present higher scores in depression and anxiety and less coping strategies. Reduced scales are sensitive to gender and age differences and can be used in school settings in order to establish a baseline and roadmaps for both universal and selective mental health school based programs.     

Cross-cultural confirmatory factor analysis of the CES-D in Spanish and Mexican dementia caregivers

The Center for Epidemiologic Studies-Depression Scale (CES-D) is the most frequently used scale for measuring depressive symptomatology in caregiving research. The aim of this study is to test its construct structure and measurement equivalence between caregivers from two Spanish-speaking countries. Face-to-face interviews were carried out with 595 female dementia caregivers from Madrid, Spain, and from Coahuila, Mexico. The structure of the CES-D was analyzed using exploratory and confirmatory factor analysis (EFA and CFA, respectively). Measurement invariance across samples was analyzed comparing a baseline model with a more restrictive model. Significant differences between means were found for 7 items. The results of the EFA clearly supported a four-factor solution. The CFA for the whole sample with the four factors revealed high and statistically significant loading coefficients for all items (except item number 4). When equality constraints were imposed to test for the invariance between countries, the change in chi-square was significant, indicating that complete invariance could not be assumed. Significant between-countries differences were found for three of the four latent factor mean scores. Although the results provide general support for the original four-factor structure, caution should be exercised on reporting comparisons of depression scores between Spanish-speaking countries.     

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 clinical pain acceptance Q-sort: a tool for assessment and facilitation of pain acceptance

The topic of pain acceptance can be clinically difficult to raise in a respectful way. This article introduces a method of managing the topic of pain acceptance in daily clinical practice: The clinical pain acceptance Q-sort. The Q-sort procedure comprises 13 small cards with printed statements concerning pain acceptance on the one side, score numbers on the other side. The procedure involves the patient handling and prioritizing the statements in a personally meaningful order. Both quantitative and qualitative use of the tool is possible. The method has a three-fold outcome: (1) topics of pain acceptance are presented in a multi-faceted way for the chronic pain patient, (2) an approximate assessment of the level of pain acceptance issues is offered to the clinician, and (3) good opportunities for a therapeutic discussion on pain acceptance are made available. The clinical pain acceptance Q-sort procedure may positively contribute to daily clinical work with pain acceptance in a straightforward way. The method provides options for assessment of pain acceptance, for better understanding of the patient, and for clinical training in psychological pain management.     

The prevalence of symptoms of Post-Traumatic Stress Disorder among soldiers with amputation of a limb or spinal injury: a report from a rehabilitation centre in Sri Lanka

Post-Traumatic Stress Disorder has been identified as one of the most commonly occurring mental illnesses in combatants. This study was conducted to determine the prevalence of Post-Traumatic Stress Disorder among soldiers who had undergone amputation of a lower or an upper limb or sustained a spinal cord injury in the battlefield, and to compare the prevalence among these categories. The research presented seeks to increase the awareness of this condition among those treating war casualties so that appropriate treatment choices could be made to address them. The study was carried out in 2009 at a rehabilitation centre for combatants of war. Data were collected from 96 male army veterans between the ages of 18-49 years using a pre-tested self-administered questionnaire based on the Diagnostic and Statistical Manual of Mental Disorders, the Impact of Event Scale and the PTSD symptom scale. Soldiers with injuries sustained at least four weeks prior to the study were selected by a convenience sampling technique. Soldiers with multiple injuries, head injuries or those diagnosed with psychiatric disorders were excluded. The results revealed that 41.7% of the study population was compatible with the diagnosis of Post-Traumatic Stress Disorder. Within the three groups, 42.5% of the lower limb amputees, 33.3% of the upper limb amputees and 45.7% of the participants with spinal cord injury had symptoms compatible with Post-Traumatic Stress Disorder. There was no difference between the prevalence among the different injury categories considered. This study highlights the need to pay more attention in providing psychological care as a part of the overall health management of injured combatants. Early preparation of soldiers for stressors of war and screening for and proper management of Post-Traumatic Stress Disorder will improve the overall outcome of rehabilitation.     

Quantitative autism traits in first degree relatives: evidence for the broader autism phenotype in fathers, but not in mothers and siblings

Autism spectrum disorder (ASD) symptoms are present in unaffected relatives and individuals from the general population. Results are inconclusive, however, on whether unaffected relatives have higher levels of quantitative autism traits (QAT) or not. This might be due to differences in research populations, because behavioral data and molecular genetic research suggest that the genetic etiology of ASD is different in multiplex and simplex families. We compared 117 unaffected siblings and 276 parents of at least one child with ASD with 280 children and 595 adults from the general population on the presence of QAT using the Social Responsiveness Scale (SRS). Mean SRS scores for siblings, control children, parents and control adults were 25.4, 26.6, 33.7 and 32.9. Fathers of children with ASD showed significantly higher levels of QAT than controls, but siblings and mothers did not. We could not detect a statistically significant difference in SRS scores between relatives from simplex and multiplex families. These results do not support the theory of differential (genetic) etiology in multiplex and simplex families and suggest that a carried genetic risk is generally not expressed phenotypically in most relatives, except in fathers.