Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed.

Depinning and vortex-glass-like transition in Nb with uncorrelated disorder

Studies of the third harmonic of the AC-susceptibility were conducted to detect the boundaries of the linear regime of the magnetic response of granular Nb samples. These studies reveal the extent of the region, on the phase diagram, where the magnetic response is linear, which corresponds to the disordered phase of Vortex Matter. The present work addresses the correlation between a linear response and experimental parameters such as the frequency and the amplitude of the excitation field. The order-disorder border has been extracted from the onset temperature of the third harmonic measured at low-frequencies and low-excitation fields in the presence of dc magnetic fields. © 2008 IOP Publishing Ltd.

O ambiente educativo e o desenvolvimento do indivíduo portador do transtorno do déficit de atenção e hiperatividade (TDAH)

The pedagogical context can become a mediator between teaching and learning process. In a research conducted to obtain a Master’s degree, I could see how intentional organized environment refl ects in the knowledge appropriation and internalization historically produced. The objective of this study is to raise hypothesis about the favoring of the potentiating context of learning in the development of the individual with the Attention Defi cit Hyperactivity Disorder (ADHD) as well as on the organization of pedagogic environment to mediate the actions of teaching and reading learning. It is the concern to meet children with behavior considered inappropriate for the classroom environment and failure before situations that involve them. The hypothesis is that when the teaching and learning environment provides motivation to the student and awakens in him the desire to produce knowledge and take ownership of it, it is possible that it may have a potentiating development of learning. As theoretical support, I used texts from Luria (1987, 1994), Vygotsky (1994), Vigotskii, Luria and Leontiev (1998), Beaton (2005),Graeff and Vaz (2008), Pastura, Mattos and Araujo (2005). The bibliographic research was the methodology used for the study.

Stabilometric parameters analysis in children with visual disorder

Background: Although postural changes were already reported in blind adults, no previous study has investigated postural stability in blind children. Moreover, there are few studies which used a stabilometric instrument to measure postural balance. In this study we evaluated stabilometric paramaters in blind children. Methods: We evaluated children between 7 to 12 years old, they were divided into two groups: Blind (n = 11) and age-matched control (n = 11) groups by using computerized stabilometry. The stabilometric examination was performed taking the gravity centers displacement of the individual projected into the platform. Thirthy seconds after the period in which this information was collected, the program defined a medium-pressure center, which was used to define x and y axes displacement and the distance between the pressure center and the platform center. Furthermore, the average sway rate and the body sway area were obtained by dividing the pressure center displacement and the time spent on the task; and by an ellipse function (95% percentille), respectively. Percentages of anterior, posterior, left and right feet weight also were calculated. Variables were compared by using the Student’s t test for unpaired data. Significance level was considered for p <0.05. Results: Displacement of the x axis (25.55 ± 9.851 vs. -3.545 ± 7.667; p <0.05) and average sway rate (19.18 ± 2.7 vs. -10.55 ± 1.003; p <0.001) were increased in the blind children group. Percentage of left foot weight was reduced (45.82 ± 2.017 vs. 52.36 ± 1.33; p <0.05) while percentage of right foot weight was increased (54.18 ± 2.17 vs. 47.64 ± 1.33; p <0.05) in blind children. Other variables did not show differences. Conclusions: Blind children present impaired stabilometric parameters.

Suicide attempts are associated with worse quality of life in patients with bipolar disorder type I

Background: The association between suicidal behavior and quality of life (QoL) in bipolar disorder (BD) is poorly understood. Worse QoL has been associated with suicide attempts and suicidal ideation in schizophrenic patients, but this relationship has not been investigated in BD. This study tested whether a history of suicide attempts was associated with poor QoL in a well-characterized sample of patients with BD, as has been observed in other psychiatric disorders and in the general population. Methods: One hundred eight patients with Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition BD type I (44 with previous suicide attempts, 64 without previous suicide attempts) were studied. Quality of life was assessed using the World Health Organization's Quality of Life Instrument Short Version. Depressive and manic symptoms were assessed using the Hamilton Depression Rating Scale-17 items and the Young Mania Rating Scale. Results: Patients with BD and previous suicide attempts had significantly lower scores in all the 4 domains of the World Health Organization's Quality of Life Instrument Short Version scale than did patients with BD but no previous suicide attempts (physical domain P=.001; psychological domain P <.0001; social domain P=.001, and environmental domain P=.039). In the euthymic subgroup (n=70), patients with previous suicide attempts had significantly lower scores only in the psychological and social domains (P=.020 and P=.004). Limitations: This was a cross-sectional study, and no causal associations can be assumed. Conclusions: Patients with BD and a history of previous suicide attempts seem to have a worse QoL than did patients who never attempted suicide. Poorer QoL might be a marker of poor copying skills and inadequate social support and be a risk factor for suicidal behavior in BD. Alternatively, poorer QoL and suicidal behavior might be different expressions of more severe BD. (C) 2012 Elsevier Inc. All rights reserved.

EEG microstate analysis in drug-naive patients with panic disorder

Patients with panic disorder (PD) have a bias to respond to normal stimuli in a fearful way. This may be due to the preactivation of fear-associated networks prior to stimulus perception. Based on EEG, we investigated the difference between patients with PD and normal controls in resting state activity using features of transiently stable brain states (microstates). EEGs from 18 drug-naive patients and 18 healthy controls were analyzed. Microstate analysis showed that one class of microstates (with a right-anterior to left-posterior orientation of the mapped field) displayed longer durations and covered more of the total time in the patients than controls. Another microstate class (with a symmetric, anterior-posterior orientation) was observed less frequently in the patients compared to controls. The observation that selected microstate classes differ between patients with PD and controls suggests that specific brain functions are altered already during resting condition. The altered resting state may be the starting point of the observed dysfunctional processing of phobic stimuli.

Change mechanisms of schema-centered group psychotherapy with personality disorder patients

Background This study addressed the temporal properties of personality disorders and their treatment by schema-centered group psychotherapy. It investigated the change mechanisms of psychotherapy using a novel method by which psychotherapy can be modeled explicitly in the temporal domain. Methodology and Findings 69 patients were assigned to a specific schema-centered behavioral group psychotherapy, 26 to social skills training as a control condition. The largest diagnostic subgroups were narcissistic and borderline personality disorder. Both treatments offered 30 group sessions of 100 min duration each, at a frequency of two sessions per week. Therapy process was described by components resulting from principal component analysis of patients' session-reports that were obtained after each session. These patient-assessed components were Clarification, Bond, Rejection, and Emotional Activation. The statistical approach focused on time-lagged associations of components using time-series panel analysis. This method provided a detailed quantitative representation of therapy process. It was found that Clarification played a core role in schema-centered psychotherapy, reducing rejection and regulating the emotion of patients. This was also a change mechanism linked to therapy outcome. Conclusions/Significance The introduced process-oriented methodology allowed to highlight the mechanisms by which psychotherapeutic treatment became effective. Additionally, process models depicted the actual patterns that differentiated specific diagnostic subgroups. Time-series analysis explores Granger causality, a non-experimental approximation of causality based on temporal sequences. This methodology, resting upon naturalistic data, can explicate mechanisms of action in psychotherapy research and illustrate the temporal patterns underlying personality disorders.

Brain electrical microstates in subjects with panic disorder

Brain electrical microstates represent spatial configurations of scalp recorded brain electrical activity and are considered to be the basic elements of stepwise processing of information in the brain. In the present study, the hypothesis of a temporo-limbic dysfunction in panic disorder (PD) was tested by investigating the topographic descriptors of brain microstates, in particular the one corresponding to the Late Positive Complex (LPC), an event-related potential (ERP) component with generators in these regions. ERPs were recorded in PD patients and matched healthy subjects during a target detection task, in a central (CC) and a lateral condition (LC). In the CC, a leftward shift of the LPC microstate positive centroid was observed in the patients with PD versus the healthy control subjects. In the LC, the topographic descriptor of the first microstate showed a rightward shift, while those of both the second and the fourth microstate, corresponding to the LPC, revealed a leftward shift in the PD patients versus the healthy control subjects. These findings indicate an overactivation of the right hemisphere networks involved in early visual processing and a hypoactivation of the right hemisphere circuits involved in LPC generators in PD. In line with this interpretation, the abnormal topography of the LPC microstate, observed in the CC, was associated with a worse performance on a test exploring right temporo-hippocampal functioning. Topographical abnormalities found for the LPC microstate in the LC were associated with a higher number of panic attacks, suggesting a pathogenetic role of the right temporo-hippocampal dysfunction in PD.

Hemispheric asymmetry in visuospatial attention assessed with transcranial magnetic stimulation

Transcranial magnetic stimulation (TMS) was used to study visuospatial attention processing in ten healthy volunteers. In a forced choice recognition task the subjects were confronted with two symbols simultaneously presented during 120 ms at random positions, one in the left and the other in the right visual field. The subject had to identify the presented pattern out of four possible combinations and to press the corresponding response key within 2 s. Double-pulse TMS (dTMS) with a 100-ms interstimulus interval (ISI) and an intensity of 80% of the stimulator output (corresponding to 110-120% of the motor threshold) was applied by a non-focal coil over the right or left posterior parietal cortex (PPC, corresponding to P3/P4 of the international 10-20 system) at different time intervals after onset of the visual stimulus (starting at 120 ms, 270 ms and 520 ms). Double-pulse TMS over the right PPC starting at 270 ms led to a significant increase in percentage of errors in the contralateral, left visual field (median: 23% with TMS vs 13% without TMS, P=0.0025). TMS applied earlier or later showed no effect. Furthermore, no significant increase in contra- or ipsilateral percentage of errors was found when the left parietal cortex was stimulated with the same timing. These data indicate that: (1) parietal influence on visuospatial attention is mainly controlled by the right lobe since the same stimulation over the left parietal cortex had no significant effect, and (2) there is a vulnerable time window to disturb this cortical process, since dTMS had a significant effect on the percentage of errors in the contralateral visual hemifield only when applied 270 ms after visual stimulus presentation.

A randomized, double-blind, placebo-controlled pilot study of naltrexone in outpatients with bipolar disorder and alcohol dependence.

BACKGROUND: Alcohol dependence is extremely common in patients with bipolar disorder and is associated with unfavorable outcomes including treatment nonadherence, violence, increased hospitalization, and decreased quality of life. While naltrexone is a standard treatment for alcohol dependence, no controlled trials have examined its use in patients with co-morbid bipolar disorder and alcohol dependence. In this pilot study, the efficacy of naltrexone in reducing alcohol use and on mood symptoms was assessed in bipolar disorder and alcohol dependence. METHODS: Fifty adult outpatients with bipolar I or II disorders and current alcohol dependence with active alcohol use were randomized to 12 weeks of naltrexone (50 mg/d) add-on therapy or placebo. Both groups received manual-driven cognitive behavioral therapy designed for patients with bipolar disorder and substance-use disorders. Drinking days and heavy drinking days, alcohol craving, liver enzymes, and manic and depressed mood symptoms were assessed. RESULTS: The 2 groups were similar in baseline and demographic characteristics. Naltrexone showed trends (p < 0.10) toward a greater decrease in drinking days (binary outcome), alcohol craving, and some liver enzyme levels than placebo. Side effects were similar in the 2 groups. Response to naltrexone was significantly related to medication adherence. CONCLUSIONS: Results suggest the potential value and acceptable tolerability of naltrexone for alcohol dependence in bipolar disorder patients. A larger trial is needed to establish efficacy.

A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice.

While most effects of dopamine in the brain are mediated by the D1 and D2 receptor subtypes, other members of this G protein-coupled receptor family have potentially important functions. D3 receptors belong to the D2-like subclass of dopamine receptors, activation of which inhibits adenylyl cyclase. Using targeted mutagenesis in mouse embryonic stem cells, we have generated mice lacking functional D3 receptors. A premature chain-termination mutation was introduced in the D3 receptor gene after residue Arg-148 in the second intracellular loop of the predicted protein sequence. Binding of the dopamine antagonist [125I]iodosulpride to D3 receptors was absent in mice homozygous for the mutation and greatly reduced in heterozygous mice. Behavioral analysis of mutant mice showed that this mutation is associated with hyperactivity in an exploratory test. Homozygous mice lacking D3 receptors display increased locomotor activity and rearing behavior. Mice heterozygous for the D3 receptor mutation show similar, albeit less pronounced, behavioral alterations. Our findings indicate that D3 receptors play an inhibitory role in the control of certain behaviors.