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.     

The effects of switching between targets on the performance of a simple motor skill

Little direct evidence has emerged regarding the influence of switching between tasks on the performance of skills studied in the motor domain. The present study reported the results of two experiments that examined the effects of task switching on a simple object projection task, which presumably emphasized processes related to response planning and execution. The experimental task required participants to gently tap a knob to make it travel along two parallel rods until it reached a specified target distance. In both experiments, participants in the repeated conditions performed a single target distance while participants in the switched conditions alternated between two target distances. Results indicated that switching between targets degraded accuracy for the two short targets (30cm, Exp. 1; 20cm, Exp. 2). Results were consistent with the preservation of parameter values [Rosenbaum, D. A., Weber, R. J., Hazelett, W. M., & Hindorff, V. (1986). The parameter remapping effect in human performance. Evidence form tongue twisters and finger fumblers. Journal of Memory and Language, 25, 710-725; Sherwood, D. E. (2007). Separate movement planning and spatial assimilation effects in sequential bimanual aiming movements. Perceptual and Motor Skills, 105, 501-513] and suggested an additional role for persisting activation in accounting for spatial assimilation and magnitude effects.     

A Comparison of Within- and Across-Activity Choices for Reducing Challenging Behavior in Children with Autism Spectrum Disorders

Offering children with autism spectrum disorders (ASD) choices between activities (e.g., working on math or English), instructional materials (e.g., using a pen or pencil), or environmental arrangements (e.g., where to sit) has been shown to reduce challenging behavior maintained by escape from task demands. However, the majority of research investigating choice-based interventions for challenging behavior has examined across-activity choices (i.e., choosing between activities) and relatively few studies have examined within-activity choice (i.e., choosing between instructional materials or environmental arrangements). The purpose of this study is to replicate and extend previous research on choice-based challenging behavior interventions by comparing the effects of across-activity choices and within-activity choices on the escape-maintained challenging behavior of 4 children with ASD. An alternating treatment design was embedded within the “B” phase of an ABAB design in which the “A” phase represented a no-choice baseline condition. Both choice formats resulted in less challenging behavior than the baseline condition for all participants. Across-activity choice resulted in less challenging behavior than within-activity choice for 3 participants. Implications for research and practice are discussed.     

Morningness-eveningness, use of stimulants, and minor psychiatric disorders among undergraduate students

Morningness–eveningness dimension in humans have been indicated to influence social behavior and individual health. The aim of the present study was to investigate the association of the morningness–eveningness dimension with behavioral and health aspects in a sample of undergraduate students. We assessed demographic data; the Pittsburgh Sleep Quality Index was used to evaluate sleep quality; the Morningness/Eveningness Questionnaire to determine morningness–eveningness, and the Self‐Reporting Questionnaire to assess minor psychiatric disorders. A total of 372 students (66.7% females), on average 21.6 years old, participated in this study. Among them, 92.2% did not smoke, 58.9% engaged in physical activities, and 19.7% were night‐shift workers. In regard to morningness–eveningness, 55.9% of the participants were intermediate between evening (39.5%) and morning (4.6%) types. Poor sleep quality (OR = 1.89), minor psychiatric disorders (OR = 1.92), and tobacco consumption (OR = 3.65) predominated among evening types. Evening types were predominantly males (OR = 1.72). This study suggests that evening types are more vulnerable to sleep and psychiatric disturbances, and tend to smoke more than morning types.     

Behaviorally Based Interventions for Teaching Social Interaction Skills to Children with ASD in Inclusive Settings: A Meta-analysis

Behaviorally based interventions have been demonstrated to be effective to teach social interaction skills for children with autism spectrum disorders in general education. However, the overall and moderating effects of these interventions have not been previously investigated in inclusive settings. The goal of this study was to investigate the overall effectiveness and contextual factors that moderate intervention effectiveness in inclusive settings. Findings showed overall high effect size based on studies previously considered of methodological quality in single-case research. Interventions are demonstrated to be highly effective for children aged 2–10 years. While differences were found according to target social skills and behavioral components used, no differential effects were found regarding intervention implementer and peer training. The findings highlight the practical significance of behavioral interventions and guide educators toward more suitable evidence-based practices in inclusive settings.     

Using Structured Telephone Follow‐up Assessments to Improve Suicide‐Related Adverse Event Detection

Adverse event (AE) detection and reporting practices were compared during the first phase of the Emergency Department Safety Assessment and Follow‐up Evaluation (ED‐SAFE), a suicide intervention study. Data were collected using a combination of chart reviews and structured telephone follow‐up assessments postenrollment. Beyond chart reviews, structured telephone follow‐up assessments identified 45% of the total AEs in our study. Notably, detection of suicide attempts significantly varied by approach with 53 (18%) detected by chart review, 173 (59%) by structured telephone follow‐up assessments, and 69 (23%) marked as duplicates. Findings provide support for utilizing multiple methods for more robust AE detection in suicide research.