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.     

Movement or goal: goal salience and verbal cues affect preschoolers' imitation of action components

The impact of goal salience and verbal cues given by the model on 3- to 5-year-olds' reproduction of action components (movement or goal) was investigated in an imitation choice task. Preschoolers watched an experimenter moving a puppet up or down a ramp, terminating at one of two target objects. The target objects were either differently colored plastic bowls (low-salient group) or sociofunctionally relevant objects (high-salient group). While demonstrating the action in several trials, the model verbalized either the movement, the goal, both the movement and the goal, or none of the components. Children imitated the action on a second ramp with reversed positions of the target objects, so they needed to decide whether to reproduce the observed movement or the observed end state. In the high-salient group, preschoolers preferentially imitated the goal component, whereas in the low-salient group, they did not show a preference for one of the components. Across trials, preschoolers preferentially imitated the goal when this component or both components were verbalized, whereas they showed no preference when the movement or none of the components was emphasized. Yet, verbal cues seemed to have stronger effects in the low-salient condition. We conclude that sociofunctional salience of action goals and communicative cues of the model affect young children's representation of observed actions, leading to a selective reproduction of those action components that are relevant to the child.     

Hemispheric asymmetry in cross-race face recognition

This study examines two phenomena related to face perception, both of which depend on experience and holistic processing: perceivers process faces more efficiently in the right hemisphere of the brain (a hemispheric asymmetry), and they typically show greater recognition accuracy for members of their racial ingroup (a cross-race recognition deficit). The current study tests the possibility that these two effects are related. If asymmetry depends on experience, it should be particularly evident with (more familiar) ingroup faces; if cross-race recognition relies on holistic processing, it should be particularly evident for faces presented to the right hemisphere. Black and White participants viewed Black and White faces presented to either the left or right visual field. As predicted, participants showed a more pronounced asymmetry for ingroup (rather than outgroup) faces, and cross-race recognition deficits were more pronounced for stimuli presented to the left (rather than the right) visual field.     

Modulation of N400 in chronic non-fluent aphasia using low frequency Repetitive Transcranial Magnetic Stimulation (rTMS)

Low frequency Repetitive Transcranial Magnetic Stimulation (rTMS) has previously been applied to language homologues in non-fluent populations of persons with aphasia yielding significant improvements in behavioral language function up to 43 months post stimulation. The present study aimed to investigate the electrophysiological correlates associated with the application of rTMS through measurement of the semantic based N400 Event-related brain potentials (ERP) component. Low frequency (1 Hz) rTMS was applied to the anterior portion of the homologue to Broca’s area (pars triangularis), for 20 min per day for 10 days, using a stereotactic neuronavigational system. Twelve non-fluent persons with aphasia, 2-6 years post stroke were stimulated. Six participants were randomly assigned to receive real stimulation and six participants were randomly assigned to receive a blind sham control condition. ERP measures were recorded at baseline, 1 week and 2 months subsequent to stimulation. The findings demonstrate treatment related changes observed in the stimulation group when compared to the placebo control group at 2 months post stimulation indicating neuromodulation of N400 as a result of rTMS. No treatment related changes were identified in the stimulation group, when compared to the sham group from baseline to 1 week post stimulation. The electrophysiological results represent the capacity of rTMS to modulate neural language networks and measures of lexical-semantic function in participants with non-fluent aphasia and suggest that time may be an important factor in brain reorganization subsequent to rTMS.     

Resisting and Conforming to the ‘Lesbian Look’: The Importance of Appearance Norms for Lesbian and Bisexual Women

Appearance is one way in which lesbian and bisexual identities and affiliation to lesbian, gay, bisexual (LGB) subculture can be demonstrated. ‘Butch’ and ‘androgynous’ styles have been used by lesbian women to communicate a non‐heterosexual identity. However, some LGB appearance researchers have argued that there has been a mainstreaming and diversification of lesbian style in the last couple of decades, which has resulted in less distinction between lesbian and straight looks. This research draws on the Social Identity approach to explore contemporary style in lesbian and bisexual communities. Fifteen lesbian and bisexual women took part in semi‐structured interviews which were analysed using thematic analysis. Although some participants reported a diversification of lesbian style, most used the term ‘butch’ to describe lesbian style, and a ‘boyish’ look was viewed as the most common contemporary lesbian style. By contrast, most participants could not identify distinct bisexual appearance norms. The data provide evidence of conflicting desires (and expectations) to visibly project social identity by conforming to specific lesbian styles, and to be an authentic, unique individual by resisting these subcultural styles. Copyright © 2013 John Wiley & Sons, Ltd.     

Coping with COVID-19: Longitudinal Impact of the Pandemic on Adjustment and Links with Coping for Adolescents with and without ADHD

Research on Child and Adolescent Psychopathology - Understanding factors that foster resilience and buffer against the negative psychological impact of COVID-19 is critical to inform efforts to...     

ADHD Behaviors and Social Functioning in Preschool Children: The Moderating Role of Emotion Recognition

This study examined the moderating role of emotion recognition on the association between preschoolers’ ADHD behaviors and social functioning outcomes. Sixty preschoolers (48.3% female; M_age?=?3.94, SD_age?=?.56) were recruited from Head Start-affiliated classrooms. Teacher-rated ADHD behaviors and an objective measure of children’s emotion recognition were assessed at the beginning of the school year. Teacher ratings of social functioning outcomes were obtained approximately three months after the start of school. Hierarchical regressions examined the unique and interactive effects of ADHD behaviors and emotion recognition on preschoolers’ social functioning outcomes (i.e., oppositional behaviors, peer behavior problems, and social-emotional school readiness). The interaction between ADHD behaviors and emotion recognition predicted oppositional behaviors, peer behavior problems and social-emotional school readiness such that higher levels of emotion recognition appear to buffer the negative association between ADHD behaviors and adaptive social functioning. Preliminary considerations for interventions aimed at promoting preschoolers’ social functioning are discussed.

     

Assessing Psychosocial Distress in Cystic Fibrosis: Validation of the ‘Distress in Cystic Fibrosis Scale’

Experiences of anxiety and depression are common in adults with Cystic Fibrosis (AwCF) (e.g. Quittner in Thorax 69:1090-1097, 2014) and may impact on a wide range of important health-related behaviours, such as adherence to medication and timely attendance for medical review when experiencing pulmonary exacerbation. Common screening measures used in CF such as the PHQ-9 and GAD-7 may reflect an absence of anxiety or depression when clinically significant emotional difficulties are apparent on further assessment. This study preliminarily validated the previously developed Distress in Cystic Fibrosis Scale (DCFS) (Patel in Journal of Cystic Fibrosis 15:S26, 2016); a 23-item questionnaire to assess psychosocial distress in AwCF. Inpatient and outpatient participants with CF (N?=?119) completed a battery of questionnaires, including the DCFS. PCA results supported a single component model. The DCFS showed high internal consistency and correlated significantly with measures of mood and quality of life. The DCFS shows promise as a screening tool to assess clinically significant psychosocial distress in an adult CF population.

     

Immobility reaction at birth in newborn infant

Objective

To describe an immobility reaction (IR) that was not previously reported at or immediately after birth in human newborns.

Method

We analyzed 31 videos of normal term vaginal deliveries recorded from Time 0 of birth defined as the as the moment that lies between the birth of the thorax and the pelvis of the infant. We searched for perinatal factors associated with newborn's IR.

Results

IR at birth was observed in 8 of the 31 newborns. The main features of their behavior were immobilization, frozen face, shallow breathing and bradycardia. One of the 8 newborns had sudden collapse 2 h after birth. We found significant relationships between maternal prenatal stress (PS) and IR (p = .037), and a close to significant one between infants’ lividness at Time 0 and IR (p = .053). The first breath of the 31 newborns occurred before and was not associated with the first cry (p < .001).

Discussion

The main features of IR at birth are similar to those of the universal most severe response to severe stress or danger. The relationship with PS suggests that children who had IR at birth might be at risk for similar disorders as those associated with PS. Sudden neonatal collapse of one of the IR newborns needs further research to determine if they are at risk for sudden infant death syndrome.

Conclusion

This first report of an IR reaction at birth in human infants could open up new paths for improving early neonatal care. Further research is needed for maternal PS, stress hormones, umbilical cord blood pH measurements in IR newborns. The challenge of education and support for parents of IR newborns is outlined.     

Intramodal and crossmodal pairing and anchoring in comparisons of successive stimuli

Two experiments were conducted to study effects of modality, temporal position, and their interaction on comparisons of successive stimuli. In Experiment 1, intramodal (tone–tone and line–line) and crossmodal (tone–line and line–tone) stimulus pairs, with two interstimulus intervals (ISIs), 400 and 2,000 ms, were presented. Participants indicated which stimulus was the “stronger.” Time-order errors (TOEs) were assessed using the D% measure and were found in all types of pairs. Variation in TOEs across conditions was well accounted for by changes in parameters (stimulus weights, reference levels) in an extended version of Hellström’s sensation weighting (SW) model. With an ISI of 2,000 ms, the first stimulus had a lower weight (less impact on the response) than did the second stimulus. More negative TOEs were found with the longer ISI in all pair types except tone–line. In Experiment 2, participants indicated which of two lines was the longer or which of two tones was the louder. An intra- or crossmodal anchor, or no anchor, was interpolated between the stimuli. Anchoring tended to reduce the weight of the first stimulus, suggesting interference with memory, and to yield negative TOEs. Intramodal anchors yielded reduced weights of both stimuli, most dramatically for tones, suggesting an additional effect of stimulus interference. Response times decreased with crossmodal anchors. For line–line pairs, strong negative TOEs were found. In both experiments, the variation in TOE across conditions was well accounted for by the SW model.