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.     

Alteration of cingulate long-term plasticity and behavioral sensitization to inflammation by environmental enrichment

Exposure to an enriched environment (EE) has been shown to induce cortical plasticity. Considerable amount of research is focused on the effects of EE in the hippocampus; however, effects of EE on other brain regions and the mechanisms involved are not well known. To investigate this, we induced cortical plasticity by placing mice in an EE for one month and measured the effects of EE in the anterior cingulate cortex (ACC). Here, we show that EE enhanced the expression of the plasticity gene, egr-1, in the ACC of EE animals accompanied by enhanced cingulate long-term potentiation (LTP) and decreased cingulate long-term depression (LTD). The increased NMDA receptor NR2B/NR2A subunits current ratio is associated with the plasticity seen in the ACC while total protein levels remain unchanged. Furthermore, behavioral experiments show that these mice exposed to EE demonstrate enhanced responses to acute and long-term inflammation. Our findings suggest that exposure to EE alters physiological properties within the ACC which results in enhanced responses to inflammation.     

Evaluating the Invariance of the Factor Structure of the EPQ–R–N Among Adolescents

We examined the factor structure of the Neuroticism scale of the Eysenck Personality Questionnaire (EPQ–R–N; S. B. G. Eysenck, Eysenck & Barrett, 1985) and its factor invariance across sex and racial/ethnic groups in a sample of 1,979 adolescents. Using confirmatory factor analyses, we compared a hierarchical model to previous models of the EPQ–R–N and to single-factor and 3-factor structures. The hierarchical factor structure in which a general factor coexists with 3 group factors (depression, social concerns, and worry) was superior to alternative models. The general factor accounted for more than 60% of the variance in EPQ–R–N total scores and was invariant across sex and ethnicity. The 3 group factors varied across ethnicity and sex. We discuss the implications of these findings for conceptualization and assessment of neuroticism using the EPQ–R–N.     

Attributional Style,Self-Esteem,and Celebrity Worship

Two studies were carried out to investigate the relationship between attributional style (Study 1), self-esteem (Study 2), and different forms of celebrity worship. Entertainment social celebrity worship (the most normal form considered) was unrelated to attributional style or self-esteem; intense personal celebrity worship was related positively to self-esteem but also to a propensity toward stable and global attributions; and borderline pathological celebrity worship (the most negative form considered) was related to external, stable, and global attributions. These results were independent of whether participants were located in Europe or North America, and are discussed in terms of whether celebrity worship should be regarded as positive or negative and as a unitary concept.     

Perception of temporal order in vowel sequences with and without formant transitions.

Temporal-order perception of phoneme segments in running speech is much superior to temporal-order perception in repeating vowel sequences. The more rapid rates possible in running speech may be due largely to the presence of formant transitions. In a series of five experiments we observed that many temporal-order misjudgements of repeating vowels can be explained in terms of auditory stream segregation, triggered for the most part by discontinuities in first-formant frequencies of adjacent vowels. Streaming, however, can be suppressed by formant transitions appropriate for the perception of stop consonants and by continuous transitions resembling those in coarticulated vowels. At rapid sequence rates, when the constraints of auditory streaming are removed, correct temporal-order identification is limited by linguistic transformations of vowels into other phoneme segments.