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.     

Validating Regulatory Sensory Processing Disorders Using the Sensory Profile and Child Behavior Checklist (CBCL 1?–5)

The objective was to validate Regulatory Sensory Processing Disorders’ criteria (DC:0-3R, 2005) using empirical data on the presence and severity of sensory modulation deficits and specific psychiatric symptoms in clinical samples. Sixty toddlers who attended a child mental health unit were diagnosed by a clinical team. The following two groups were created: toddlers with RSPD (N?=?14) and those with “other diagnoses in Axis I/II of the DC:0-3R″(OD3R) (N?=?46). Independently of the clinical process, parents completed the Infant Toddler Sensory Profile (as a checklist for sensory symptoms) and the Achenbach Behavior Checklist for ages 1?–5 (CBCL 1?–5). The scores from the two groups were compared. The results showed the following for the RSPD group: a higher number of affected sensory areas and patterns than in the OD3R group; a higher percentage of sensory deficits in specific sensory categories; and a higher severity of behavioral symptoms such as withdrawal, inattention, other externalizing problems and pervasive developmental problems in CBCL 1?–5. The results confirmed our hypotheses by indicating a higher severity of sensory symptoms and identifying specific behavioral problems in children with RSPD. The results revealed convergent validity between the instruments and the diagnostic criteria for RSPD and supported the validity of RSPD as a unique diagnosis. The findings also suggested the importance of identifying sensory modulation deficits in order to develop an early intervention to enhance the sensory capacities of children who do not fully satisfy the criteria for some DSM-IV-TR disorders.     

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.     

Auditory contagious yawning in domestic dogs (Canis familiaris): first evidence for social modulation

Dogs' capacity to 'catch' human yawns has recently attracted the attention of researchers in the field of animal cognition. Following recent studies suggesting that contagion yawning in humans, and some other primates, is empathy-related, some authors have considered the possibility that the same mechanism may underlie contagious yawning in dogs. To date, however, no positive evidence has been found, and more parsimonious hypotheses have been put forward. The present study explored the 'contagion-only' hypothesis by testing whether the mere sound of a human yawn can be sufficient to elicit yawning in dogs, in a way that is unaffected by social-emotional factors. Unexpectedly, results showed an interesting interplay between contagion and social effects. Not only were dogs found to catch human yawns, but they were also found to yawn more at familiar than unfamiliar yawns. Although not allowing for conclusive inferences about the mechanisms underlying contagious yawning in dogs, this study provides first data that renders plausible empathy-based, emotionally connected, contagious yawning in these animals.     

Symmetry axiom of Haken–Kelso–Bunz coordination dynamics revisited in the context of cognitive activity

We present an axiomatic derivation of a model proposed by Haken, Kelso, and Bunz (1985) that describes dynamical aspects of the rhythmic coordination between two limbs. Elaboration of this model has included a symmetry parameter that captures the coordination consequences of an inherent or imposed frequency difference between the limbs. We modified one of the axioms involved in the model derivation, a symmetry axiom, in order to incorporate a new symmetry parameter. This new parameter defines a shift between (a) the laboratory coordinate system, in which the behavior is observed, and (b) a second, postulated coordinate system. It is this second coordinate system, in which the relevant state dynamics is assumed to take place and in which the state dynamics evolves under the impact of an attractor. The state dynamics as described in the attractor coordinate system is then mapped by means of the new symmetry parameter to the laboratory coordinate system. We discuss analytically the bifurcation diagram of the model and determine main effects and interaction effects of manipulations related to the symmetry parameters and related to the mode of coordination (in-phase and anti-phase). The theoretical results are brought to bear on the challenging experimental observation that concurrent cognitive activity (counting, encoding, retrieving, sentence analysis) changes the location of the bimanual coordination attractor but not its strength. The theoretical results suggest that cognitive activity may have the effect it has because it shifts the attractor coordinate system relative to the laboratory coordinate system.     

Indiscriminate behavior observed in the strange situation among institutionalized toddlers: Relations to caregiver report and to early family risk

Socially disinhibited or indiscriminate behavior (IB) has traditionally been investigated using caregiver reports. More recently, an observational measure based on the Strange Situation Procedure (M. Ainsworth, M. Blehar, E. Waters, & S. Wall, 1978), the Rating of Infant and Stranger Engagement (RISE; C. Riley, A. Atlas‐Corbett, & K. Lyons‐Ruth, 2005), was validated in home‐reared at‐risk children. The present study aimed to validate the RISE in an institutionally reared sample using the caregiver report, to assess whether IB assessed with the RISE was elevated among the institutionalized children, and to explore potential risk factors associated with IB. The study was conducted among 74 institutionalized toddlers aged 11 to 30 months. Sociodemographic questionnaires were used to assess pre‐admission experiences, and aspects of institutional placement were coded from the children's files in the institution and staff's report. Institutionalized children displayed high frequencies of IB as assessed on the RISE, and this instrument was validated against caregiver report. Pre‐admission experiences of the institutionalized children in their biological families—namely, prenatal risk and maternal emotional neglect risk—predicted IB. Results suggest that the RISE is adequate to use among institutionally reared toddlers and point to aspects of the early familial environment that may be implicated in IB.     

Asymmetric switch-costs and ERPs reveal facial identity dominance over expression

Previous studies on face processing have revealed an asymmetric overlap between identity and expression, as identity is processed irrespective of expression while expression processing partly depends on identity. To investigate whether this relative interaction is caused by dominance of identity over expression, participants performed familiarity and expression judgments during task switching. This paradigm reveals task-set dominance with a paradoxical asymmetric switch-cost (i.e., greater difference between switch and repeat trials when switching toward the dominant task). Event-related potentials (ERPs) were recorded to find the neural signature of the asymmetric cost. As expected, greater switch-cost was shown in the familiarity task with respect to response times, indicating its dominance over the expression task. Moreover, a left-sided ERP correlate of this effect was observed at the level of the frontal N2 component, interpreted as an index of modulations in endogenous executive control. Altogether, these results confirm the overlap between identity and expression during face processing and further indicate their relative dominance.     

Transitional and steady-state choice behavior under an adjusting-delay schedule

Twelve rats made repeated choices on an adjusting-delay schedule between a smaller reinforcer (A) that was delivered immediately after a response and a larger reinforcer (B) that was delivered after a delay which increased or decreased by 20% depending on the subject's choices in successive blocks of trials. In two phases of the experiment (100 sessions and 40 sessions), reinforcer sizes were selected which enabled theoretical parameters expressing the rate of delay discounting and sensitivity to reinforcer size to be estimated from the ratio of the indifference delays obtained in the two phases. Indifference delays, calculated from adjusting delays in the last 10 sessions of each phase, were shorter when the sizes of A and B were 14 and 25 μl of a 0.6 M sucrose solution than when they were 25 and 100 μl of the same solution. The ratio of the indifference delays was significantly smaller than that predicted on the basis of an assumed linear relation between reinforcer size and instantaneous reinforcer value, consistent with a previous proposal that this relation may be hyperbolic in form. Estimates of the rate of delay discounting based on the ratio of the two indifference delays (mean, 0.08 s(-1)) were similar to values obtained previously using different intertemporal choice protocols. Estimates of the size-sensitivity parameter (mean 113 μl) were similar to estimates recently derived from performance on progressive-ratio schedules. In both phases of the experiment, adjusting delays in successive blocks of trials were analyzed using the Fourier transform. The power spectrum obtained from individual rats had a dominant frequency that corresponded to a period of oscillation of the adjusting delay between 30 and 100 trial blocks (mean, 78). Power in the dominant frequency band was highest in the early sessions of the first phase and declined with extended training. It is suggested that this experimental protocol may have utility in neurobehavioral studies of intertemporal choice.     

Parental Marital Discord and Treatment Response in Depressed Adolescents

Evidence suggests that parental marital discord contributes to the development of internalizing and externalizing symptoms in children and adolescents. Few studies, however, have examined the association between parental marital discord and youth’s response to treatment. The present study examined the impact of interparental discord on treatment response in a randomized control trial of adolescents with major depression enrolled in the Treatment for Adolescents with Depression Study (TADS). Participants were 260 adolescents from two-parent households randomly assigned to one of four treatment groups: fluoxetine (FLX), cognitive behavior therapy (CBT), their combination (COMB), or placebo (PBO). Logistic regressions revealed that parental marital discord interacted with youth gender and co-morbid oppositionality symptoms to predict group differences in treatment response.