Psychogenetics of Turner syndrome: an investigation of 28 subjects and respective controls using the Bender test and Piagetian scales

Piagetian scales and the Bender visual motor gestalt test (BT) were applied to 28 subjects with universal 45, X Turner syndrome (TS), and their respective controls, in order to investigate their cognitive performance. Dermatoglyphics were also analyzed to obtain clues concerning embryological changes that may have appeared during development of the nervous system and could be associated with cognitive performance of TS patients. Dermatoglyphic pattern distribution was similar to that reported in previous studies of TS individuals: ulnar loops in the digital patterns and finger ridge, a-b, and A'-d counts were more frequent, while arch and whorl patterns were less frequent compared to controls. However, we did not find higher frequencies of hypothenar pattern, maximum atd angle, and ulnarity index in our TS subjects, unlike other investigations. Furthermore, we found significant differences between TS and control T line index values. The BT scores were also lower in probands, as has been previously reported, revealing a neurocognitive deficit of visual motor perception in TS individuals, which could be due to an absence of, or deficiency in, cerebral hemispheric lateralization. However, TS subjects seemed to improve their performance on BT with age. Cognitive performance of the TS subjects was not significantly different from that of controls, confirming a previous study in which TS performance was found to be similar to that of the normal Brazilian population. There were significant correlations between BT scores and Piagetian scale levels with dermatoglyphic parameters. This association could be explained by changes in the common ectodermal origin of the epidermis and the central nervous system. TS subjects seem to succeed in compensating their spatial impairments in adapting their cognitive and social contacts. We concluded that genetic counseling should consider cognitive and psychosocial difficulties presented by TS subjects, providing appropriate treatment and orientation for them and their families.

Effects of goal difficulty and temporality in motor skill acquisition using the Bachman ladder

The effects of different types of goal setting on motor skill learning were investigated. 100 individuals (64 men, 36 women) without experience in the performance of the Bachman ladder task participated. Participants were randomly assigned to one of five goal groups: (a) generic, (b) long-term, difficult, (c) long-term, easy; (d) short- and long-term, difficult, and (e) short- and long-term, easy. In the acquisition phase, participants performed 200 trials, and in the transfer and retention phases, each performed 50 trials. The dependent variable was the number of steps achieved in blocks of 10 trials. The results showed that the groups had similar performances in both the transfer and retention phases. Setting of generic, difficult, easy, long- and short-term, and self-setting goals all enabled similar effects on motor learning.

Relative frequency of knowledge of results and task complexity in the motor skill acqusition

The aim of this study was to investigate the effects of knowledge of results (KR) frequency and task complexity on motor skill acquisition. The task consisted of throwing a bocha ball to place it as close as possible to the target ball. 120 students ages 11 to 73 years were assigned to one of eight experimental groups according to knowledge of results frequency (25, 50, 75, and 100%) and task complexity (simple and complex). Subjects performed 90 trials in the acquisition phase and 10 trials in the transfer test. The results showed that knowledge of results given at a frequency of 25% resulted in an inferior absolute error than 50% and inferior variable error than 50, 75, and 100 I frequencies, but no effect of task complexity was found.

Two times three little pigs: Dysfluency, cognitive complexity and autism

This paper presents an analysis of dysfluencies in two oral tellings of a familiar children's story by a young boy with autism. Thurber & Tager-Flusberg (1993) postulate a lower degree of cognitive and communicative investment to explain a lower frequency of non-grammatical pauses observed in elicited narratives of children with autism in comparison to typically developing and intellectually disabled controls. we also found a very low frequency of non-grammatical pauses in our data, but indications of high engagement and cognitive and communicative investment. We point to a wider range of disfluencies as indicators of cognitive load, and show that the kind and location of dysfluencies produced may reveal which aspects of the narrative task are creating the greatest cognitive demand: here, mental state ascription, perspectivization, and adherence to story schema. This paper thus generates analytical options and hypotheses that can be explored further in a larger population of children with autism and typically developing controls.

Excitability changes in human forearm corticospinal projections and spinal reflex pathways during rhythmic voluntary movement of the opposite limb

Rhythmic movements brought about by the contraction of muscles on one side of the body give rise to phase-locked changes in the excitability of the homologous motor pathways of the opposite limb. Such crossed facilitation should favour patterns of bimanual coordination in which homologous muscles are engaged simultaneously, and disrupt those in which the muscles are activated in an alternating fashion. In order to examine these issues, we obtained responses to transcranial magnetic stimulation (TMS), to stimulation of the cervicomedullary junction (cervicomedullary-evoked potentials, CMEPs), to peripheral nerve stimulation (H-reflexes and f-waves), and elicited stretch reflexes in the relaxed right flexor carpi radialis (FCR) muscle during rhythmic (2 Hz) flexion and extension movements of the opposite (left) wrist. The potentials evoked by TMS in right FCR were potentiated during the phases of movement in which the left FCR was most strongly engaged. In contrast, CMEPs were unaffected by the movements of the opposite limb. These results suggest that there was systematic variation of the excitability of the motor cortex ipsilateral to the moving limb. H-reflexes and stretch reflexes recorded in right FCR were modulated in phase with the activation of left FCR. As the f-waves did not vary in corresponding fashion, it appears that the phasic modulation of the H-reflex was mediated by presynaptic inhibition of Ia afferents. The observation that both H-reflexes and f-waves were depressed markedly during movements of the opposite indicates that there may also have been postsynaptic inhibition or disfacilitation of the largest motor units. Our findings indicate that the patterned modulation of excitability in motor pathways that occurs during rhythmic movements of the opposite limb is mediated primarily by interhemispheric interactions between cortical motor areas.

Clinical measures of obesity and weight loss in men

OBJECTIVES: (?) To determine the relationship between waist circumference and body weight in overweight men both before and after participation in a weight loss program; and (2) to make recommendations for the appropriate use of these measures at various stages of weight toss. DESIGN: Weight and waist circumference measures were taken in two diverse groups of men both before and 1-2y after commencing a men's 'waist loss' program. Regression analyses were used to assess the relationship between weight and waist measures. SUBJECTS: One group of 42 retired Caucasian men from New South Wales, and one group of 45 indigenous men from the Torres Strait region of Northern Australia. RESULTS: There were differences in the relationships of weight and waist circumference before the program and change in weight and change in waist circumference after weight loss. These differences were similar in both groups of men (indigenous men and retired Caucasian men), with a 1 cm waist loss being on average equivalent to about 3/4 kg, but with wide variability, suggesting inter-individual variation in fat losses from different depots. This variation suggests that neither weight nor waist alone is a sufficient measure of fat loss for men. CONCLUSIONS: Weight and waist circumference should both be used at various stages in the clinical situation to assess change in body fat in men involved in obesity reduction.

A twin study of psychometric intelligence and efficiency of information processing

Intelligence (IQ) can be seen as the efficiency of mental processes or cognition, as can basic information processing (IP) tasks like those used in our ongoing Memory, Attention and Problem Solving (MAPS) study. Measures of IQ and IP are correlated and both have a genetic component, so we are studying how the genetic variance in IQ is related to the genetic variance in IP. We measured intelligence with five subscales of the Multidimensional Aptitude Battery (MAB). The IP tasks included four variants of choice reaction time (CRT) and a visual inspection time (IT). The influence of genetic factors on the variances in each of the IQ, IP, and IT tasks was investigated in 250 identical and nonidentical twin pairs aged 16 years. For a subset of 50 pairs we have test–retest data that allow us to estimate the stability of the measures. MX was used for a multivariate genetic analysis that addresses whether the variance in IQ and IP measures is possibly mediated by common genetic factors. Analyses that show the modeled genetic and environmental influences on these measures of cognitive efficiency will be presented and their relevance to ideas on intelligence will be discussed.

Career versus motherhood? A case study describing a cognitive-existential approach to the dilemma

The present paper reports a case study concerning a professional woman in her 30s, who presented to the Occupational Health department of a metropolitan hospital with work stress stemming from accelerating work demands and marital problems related to the decision about whether to start a family or continue her career. No clinical diagnosis was warranted; however, Maslach Burnout Inventory Scores indicated a high degree of emotional exhaustion and moderate levels of depersonalisation, offset by a high sense of personal accomplishment in her work role. The client also demonstrated severe stress and moderate depression on the Depression-Anxiety-Stress Scale (DASS-21). The case was conceptualised from a combined cognitive-existential perspective. The woman's cognitions about her work, relationship, and prospective motherhood roles were identified, as well as underlying existential issues such as finding a meaning in life and a fear of being alone and unloved. Eight sessions of therapy incorporated components of cognitive and existential therapies, aimed at managing stress and improving marital adjustment. Posttreatment results showed substantial reductions in all the measures of distress, while personal accomplishment remained high. The woman and her husband decided to defer starting a family until other issues had been addressed.

Prevalence of Alcohol-Related Problems in an Elderly Population and Their Association With Cognitive Impairment and Dementia

Background: Studies investigating the association between alcohol use and cognitive disorders in the elderly population have produced divergent results. Moreover, the role of alcohol in cognitive dysfunction is not clear. The aims of this study were to estimate the prevalence of alcohol-related problems in an elderly population from Brazil and to investigate their association with cognitive and functional impairment (CFI) and dementia. Methods: A community-based cross-sectional study was performed. A sample of 1,145 elderly people was examined in 2 phases. Several instruments were utilized in the first phase: the CAGE questionnaire was used to identify potential cases of alcohol-related problems, and a screening test for dementia was used to estimate CFI. The CAMDEX interview (Cambridge Examination) and DSM-IV (Diagnostic and Statistical Manual of Mental Disorders, 4th edition) criteria were used for the clinical diagnosis of dementia in the second phase. Results: ""Heavy alcohol use"" (CAGE >= 2) was found in 92 subjects (prevalence: 8.2%). It was associated with gender (males, p < 0.001), low education (only in females, p = 0.002), and low socioeconomic level (p = 0.001, in females; p = 0.002, in males). The Mini Mental State Examination exhibited a nonlinear relationship with alcohol-related problems in females; ""mild-moderate alcohol use"" (CAGE < 2) presented the highest score. A significant association between alcohol-related problems and cognitive dysfunction was found only in females. ""Heavy alcohol use"" was associated with higher CFI and dementia rates compared to ""mild-moderate alcohol use"" (p = 0.003 and p < 0.001, respectively). ""Mild-moderate alcohol use"" had a tendency of association with lower CFI and dementia rates when compared to ""no alcohol use"" (p = 0.063 and 0.050, respectively). Conclusion: Our findings suggest that alcohol use does not have a linear relationship with cognitive decline.

Rehabilitation of executive dysfunction: A controlled trial of an attention and problem solving treatment group

In this study, the effectiveness of a group-based attention and problem solving (APS) treatment approach to executive impairments in patients with frontal lobe lesions was investigated. Thirty participants with lesions in the frontal lobes, 16 with left frontal (LF) and 14 with right frontal (RF) lesions, were allocated into three groups, each with 10 participants. The APS treatment was initially compared to two other control conditions, an information/education (IE) approach and treatment-as-usual or traditional rehabilitation (TR), with each of the control groups subsequently receiving the APS intervention in a crossover design. This design allowed for an evaluation of the treatment through assessment before and after treatment and on follow up, six months later. There was an improvement on some executive and functional measures after the implementation of the APS programme in the three groups. Size, and to a lesser extent laterality, of lesion affected baseline performance on measures of executive function, but there was no apparent relationship between size, laterality or site of lesion and level of benefit from the treatment intervention. The results were discussed in terms of models of executive functioning and the effectiveness of domain specific interventions in the rehabilitation of executive dysfunction.

Pain Relief and Functional Recovery in Patients with Complex Regional Pain Syndrome after Motor Cortex Stimulation

In addition to pain and neurovegetative symptoms, patients with severe forms of complex regional pain syndrome (CRPS) develop a broad range of symptoms, including sensory disturbances, motor impairment and dystonic posturing. While most patients respond to medical therapy, some are considered refractory and become surgical candidates. To date, the most commonly used surgical procedure for CRPS has been spinal cord stimulation. This therapy often leads to important analgesic effects, but no sensory or motor improvements. We report on 2 patients with pain related to CRPS and severe functional deficits treated with motor cortex stimulation (MCS) who not only had significant analgesic effects, but also improvements in sensory and motor symptoms. In the long term (27 and 36 months after surgery), visual analog scale pain scores were improved by 60-70% as compared to baseline. There was also a significant increase in the range of motion in the joints of the affected limbs and an improvement in allodynia, hyperpathia and hypoesthesia. Positron emission tomography scan in both subjects revealed that MCS influenced regions involved in the circuitry of pain. Copyright (C) 2011 S. Karger AG, Basel

Cognitive impairment and dementia in neurocysticercosis A cross-sectional controlled study

Objectives: Neurocysticercosis (NCYST) is the most frequent CNS parasitic disease worldwide, affecting more than 50 million people. However, some of its clinical findings, such as cognitive impairment and dementia, remain poorly characterized, with no controlled studies conducted so far. We investigated the frequency and the clinical profile of cognitive impairment and dementia in a sample of patients with NCYST in comparison with cognitively healthy controls (HC) and patients with cryptogenic epilepsy (CE). Methods: Forty treatment-naive patients with NCYST, aged 39.25 +/- 10.50 years and fulfilling absolute criteria for definitive active NCYST on MRI, were submitted to a comprehensive cognitive and functional evaluation and were compared with 49 HC and 28 patients with CE of similar age, educational level, and seizure frequency. Results: Patients with NCYST displayed significant impairment in executive functions, verbal and nonverbal memory, constructive praxis, and verbal fluency when compared with HC (p < 0.05). Dementia was diagnosed in 12.5% patients with NCYST according to DSM-IV criteria. When compared with patients with CE, patients with NCYST presented altered working and episodic verbal memory, executive functions, naming, verbal fluency, constructive praxis, and visual-spatial orientation. No correlation emerged between cognitive scores and number, localization, or type of NCYST lesions on MRI. Conclusions: Cognitive impairment was ubiquitous in this sample of patients with active neurocysticercosis (NCYST). Antiepileptic drug use and seizure frequency could not account for these features. Dementia was present in a significant proportion of patients. These data broaden our knowledge on the clinical presentations of NCYST and its impact in world public health. Neurology (R) 2010;74:1288-1295

Disease-modifying properties of long-term lithium treatment for amnestic mild cognitive impairment: randomised controlled trial

Background Two recent clinical studies support the feasibility of trials to evaluate the disease-modifying properties of lithium in Alzheimer`s disease, although no benefits were obtained from short-term treatment. Aims To evaluate the effect of long-term lithium treatment on cognitive and biological outcomes in people with amnestic mild cognitive impairment (aMCI). Method Forty-five participants with aMCI were randomised to receive lithium (0.25-0.5mmol/l) (n=24) or placebo (n = 21) in a 12-month, double-blind trial. Primary outcome measures were the modification of cognitive and functional test scores, and concentrations of cerebrospinal fluid (CSF) biomarkers (amyloid-beta peptide (A beta(42)), total tau (T-tau), phosphorylated-tau) (P-tau). Trial registration: NCT01055392. Results Lithium treatment was associated with a significant decrease in CSF concentrations of P-tau (P=0.03) and better perform-ance on the cognitive subscale of the Alzheimer`s Disease Assessment Scale and in attention tasks. Overall tolerability of lithium was good and the adherence rate was 91%. Conclusions The present data support the notion that lithium has disease-modifying properties with potential clinical implications in the prevention of Alzheimer`s disease.

Influence of treadmill training on motor performance and organization of exploratory behavior in Meriones unguiculatus with unilateral ischemic stroke: Histological correlates in hippocampal CA1 region and the neostriatum

This study examined the effects of motor stimulation via treadmill on the behavior of male gerbils after external carotid ischemic brain lesion. The animals were assigned to five groups; ischemic with no stimulation (SIG), ischemic with stimulation (SIG 12/24/48/72 It after surgery), non-ischemic with no stimulation (CC), non-ischemic with stimulation (CE) and sham, surgery without occlusion with no stimulation (SH). All the animals were tested in the open-field (OF) and rotarod (RR), 4 days after surgery in order to evaluate exploratory behaviors and motor performance. Data were submitted to one-way variance (ANOVA) and Dunnett`s post hoc comparisons. SIG and SIG 12 groups showed a significant decrease in motor response (crossing) when compared to the control group (CC) (F = 20.65, P < 0.05) in the OF. SIG 12 group showed an increase in grooming behavior (F = 23.136, P < 0.05) and all ischemia groups (SIG, SIG 12/24/48/72) spent less time on the RR (F = 10.40, P < 0.05), when compared to the control group (CC). Histological analyses show extensive lesions in the hippocampus and neostriatum for all groups with ischemia (SIG, SIG 12/24/48/72), which are structures involved in the organization of motor behavior. Interestingly, the most pronounced damage was found in animals submitted to motor stimulation 12 h after ischemia which can be correlated to the increased number of grooming behavior showed by them in the OF. These findings suggest that motor stimulation through treadmill training improve motor behavior after ischemia, except when it starts 12h after surgery. (c) 2007 Elsevier Ireland Ltd. All rights reserved.

Stimulus competition in affective and relational learning

Evaluative learning theory states that affective learning, the acquisition of likes and dislikes, is qualitatively different from relational learning, the learning of predictive relationships among stimuli. Three experiments tested the prediction derived from evaluative learning theory that relational learning, but not affective learning, is affected by stimulus competition by comparing performance during two conditional stimuli, one trained in a superconditioning procedure and the other in a blocking procedure. Ratings of unconditional stimulus expectancy and electrodermal responses indicated stimulus competition in relational learning. Evidence for stimulus competition in affective learning was provided by verbal ratings of conditional stimulus pleasantness and by measures of blink startle modulation. Taken together, the present experiments demonstrate stimulus competition in relational and affective learning, a result inconsistent with evaluative learning theory. (C) 2001 Academic Press.