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.     

How do spatial representations enhance cognitive numerical processing?

Several philosophical theories attempt to explain how actions performed in the world enhance cognitive processing: internalism, active externalism, and cognitive integration. The aim of this paper is to examine whether the use of spatial representations in arithmetic can shed light on this debate. Relying on philosophical analysis, on a discussion of empirical work in the cognitive neuroscience of number, and on a historical case study, I will show that spatial representations of number indicate an integration between internal and external cognitive processes.     

System of Spheres-based Multiple Contractions

We propose a new class of multiple contraction operations — the system of spheres-based multiple contractions — which are a generalization of Grove’s system of spheres-based (singleton) contractions to the case of contractions by (possibly non-singleton) sets of sentences. Furthermore, we show that this new class of functions is a subclass of the class of the partial meet multiple contractions.     

Evolved cognitive biases and the epistemic status of scientific beliefs

Our ability for scientific reasoning is a byproduct of cognitive faculties that evolved in response to problems related to survival and reproduction. Does this observation increase the epistemic standing of science, or should we treat scientific knowledge with suspicion? The conclusions one draws from applying evolutionary theory to scientific beliefs depend to an important extent on the validity of evolutionary arguments (EAs) or evolutionary debunking arguments (EDAs). In this paper we show through an analytical model that cultural transmission of scientific knowledge can lead toward representations that are more truth-approximating or more efficient at solving science-related problems under a broad range of circumstances, even under conditions where human cognitive faculties would be further off the mark than they actually are.