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Item does not contain fulltext Recent studies show varying results on whether motor imagery capacity is compromised in individuals with cerebral palsy (CP). Motor imagery studies in children predominantly used the implicit hand laterality task. In this task participants judge the laterality of displayed hand stimuli. A more explicit way of studying motor imagery is mental chronometry. This paradigm is based on the comparison between the movement durations of actually performing a task and imagining the same task. The current study explored motor imagery capacity in CP by means of mental chronometry of a whole body task. Movement durations of 20 individuals with CP (mean age = 13 years, SD = 3.6) were recorded in two conditions: actual walking and imagined walking. Six unique trajectories were used that varied in difficulty via manipulation of walking distance and path width. We found no main effect of condition (actual walking versus imagining) on movement durations. Difficulty of the walking trajectory did affect movement durations. In general, this was expressed by an increase in movement durations with increasing difficulty of the task. No interaction between task difficulty and movement condition was found. Our results show that task difficulty has similar effects on movement durations for both actual walking and imagined walking. These results exemplify that the tested individuals were able to use motor imagery in an explicit task involving walking. Previous studies using the implicit hand laterality task showed varying results on motor imagery capacity in CP. We therefore conclude that motor imagery capacity is task dependent and that an explicit paradigm as the one used in this study may reveal the true motor imagery capacity. The implications of these findings for the use of motor imagery training are discussed. 7 p.

Item does not contain fulltext Stress causes the release of many transmitters and hormones, including corticosteroids. These molecules enter the brain and exert their effects through the mineralo- and glucocorticoid receptor. The former receptor plays an important role in neuronal stability. However, it also mediates rapid non-genomic corticosteroid effects that in synergy with other stress mediators activate limbic cells and promote behavioral choices allowing the organism to quickly respond to the imminent danger. Glucocorticoid receptors primarily mediate slow genomic effects, for instance in the hippocampus and prefrontal cortex, which are thought to contribute to contextual and higher cognitive aspects of behavioral performance several hours after stress. Rapid and slow effects interact and collectively contribute to successful behavioral adaptation. Long-term disturbances in the release pattern of corticosteroid hormones and in the responsiveness of their receptors give rise to structural and functional changes in neuronal properties which may contribute to the expression of psychopathology.

Contains fulltext : 116474.pdf (Publisher’s version ) (Closed access) Objectives: Previous research identified alexithymia as a potential risk factor for substance use disorders (SUD). More insight into the relation between alexithymia and SUD is needed in order to treat SUD effectively. Therefore, we investigated whether a familial vulnerability to alcoholism relates to the presence and severity of alexithymia in SUD patients. Method: Hospitalized, abstinent SUD-patients (n = 187), were assessed with the Toronto Alexithymia Scale (TAS-20) and Addiction Severity Index (EuropASI). A maternal, paternal, and total continuous measure of the Family History of Alcohol (FHA) was developed. Kruskal-Wallis tests and Spearman correlations were used to relate the composite scores of FHA to alexithymia as a categorical and continuous measure. Multivariate regression models were performed to control for the effects of confounders on the relation between FHA and alexithymia. Results: Compared to moderate (33%) and low (17%) alexithymic SUD-patients, high alexithymic (50%) patients were more likely to have fathers with alcohol problems (P = 0.004). Such a difference was not found for mothers with alcohol problems. The composite FHA-score was significantly associated with alexithymia (Rs = .19, P = 0.01). However, only a paternal FHA, independent from disturbed family functioning, related to the degree of alexithymia (beta = .13, P = 0.06), especially to the Difficulty Identifying Feelings as measured by the TAS-20 (beta = .16, P = 0.02). Conclusions: The relation between a paternal FHA and a higher degree of alexithymia in SUD-patients suggests that alexithymia could mediate the familiality of alcoholism or SUD in the paternal line. 7 p.

Although externalizing behavior problems show in general a high stability over time, the course of externalizing behavior problems may vary from individual to individual. Our main goal was to investigate the predictive role of parenting on externalizing behavior problems. In addition, we investigated the potential moderating role of gender and genetic risk (operationalized as familial loading of externalizing behavior problems (FLE), and presence or absence of the dopamine receptor D4 (DRD4) 7-repeat and 4-repeat allele, respectively). Perceived parenting (rejection, emotional warmth, and overprotection) and FLE were assessed in a population-based sample of 1768 10- to 12-year-old adolescents. Externalizing behavior problems were assessed at the same age and 2 1/2 years later by parent report (CBCL) and self-report (YSR). DNA was extracted from blood samples. Parental emotional warmth predicted lower, and parental overprotection and rejection predicted higher levels of externalizing behavior problems. Whereas none of the parenting factors interacted with gender and the DRD4 7-repeat allele, we did find interaction effects with FLE and the DRD4 4-repeat allele. That is, the predictive effect of parental rejection was only observed in adolescents from low FLE families and the predictive effect of parental overprotection was stronger in adolescents not carrying the DRD4 4-repeat allele. (C) 2012 Elsevier Ireland Ltd. All rights reserved.

Contains fulltext : 116726.pdf (Publisher’s version ) (Closed access) OBJECTIVE: In a previous article reporting group data, we presented event-related potentials (ERPs), which were evoked by randomly presented target stimuli in a 'learning-oddball' task. These ERPs contained a large N2-P3 complex that decreased and a Contingent Negative Variation (CNV) that increased when the targets were presented in a regular fashion. Using the learning-oddball paradigm, the aim of the present paper was to determine ERP effects of introducing regularity in individual participants. METHODS: The data from the previous study were re-analyzed at the level of the individual participant, extracting individual sigmoid curves by means of wavelet-denoising and focusing on RTs, and CNV, N2, and P3 ERP components. RESULTS: Most participants displayed significant sigmoid curves with respect to the P3 component (22 of the 24 participants - 22/24), the N2 component (20/24), and/or the CNV (19/24) component. In contrast, reaction times (RTs) appeared less sensitive to incidental learning (15/24). Modest correlations were observed between RTs and N2 component amplitudes. CONCLUSIONS: It is possible to extract significant ERP changes to introducing regularity in individual participants. SIGNIFICANCE: Tracking ERP changes within the learning-oddball paradigm might be a useful tool to assess pattern detection capacities in individual patients. 8 p.

Item does not contain fulltext Previous research has suggested that abnormalities within the amygdala and prefrontal cortex (PFC) may underlie major depressive disorder (MDD). The contribution of microstructural alterations within these regions in adult MDD is still equivocal. Therefore, seventeen middle-aged medication-free remitted MDD patients and 21 matched never-depressed control subjects underwent structural magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Despite comparable amygdala volumes, remitted MDD patients revealed decreased mean diffusivity (MD) and increased fractional anisotropy (FA) within the left amygdala, which may be interpreted as greater cell density and increased number of fibers, respectively. This last notion was supported by probabilistic tractography results, which revealed increased connectivity from the left amygdala to the hippocampus, the cerebellum and the brain stem. Further, altered microstructure as indicated by increased MD possibly reflecting decreased cell density within the medial PFC (mPFC) was found. Taken together, the current DTI study shows that abnormal microstructure and connectivity of the amygdala and mPFC might be key factors in the pathophysiology of MDD that may account for functional changes. 9 p.

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as ‘ciliopathies’. However, disease mechanisms remain poorly understood. Here we identify by whole exome resequencing, mutations of MRE11, ZNF423, and CEP164 as causing NPHP-RC. All three genes function within the DNA damage response (DDR) pathway, hitherto not implicated in ciliopathies. We demonstrate that, upon induced DNA damage, the NPHP-RC proteins ZNF423, CEP164 and NPHP10 colocalize to nuclear foci positive for TIP60, known to activate ATM at sites of DNA damage. We show that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents, and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype. We identify TTBK2, CCDC92, NPHP3 and DVL3 as novel CEP164 interaction partners. Our findings link degenerative diseases of kidney and retina, disorders of increasing prevalence, to mechanisms of DDR.

Item does not contain fulltext BACKGROUND: Voice disorders have a multifactorial genesis and may be present in various ways. They can cause a significant communication handicap and impaired quality of life. OBJECTIVE: To assess the effect of vocal fold lesions and voice quality on voice handicap and psychosomatic well-being. METHODS: Female patients, aged 18-65 years, who were referred to the outpatient clinic with voice problems were subsequently assessed. Laryngostroboscopic examination and acoustic voice analysis were carried out, and the patients were asked to fill in the Voice Handicap Index (VHI) and Symptom Check List-90 questionnaires. RESULTS: Eighty-two patients were included. In 43 patients (52.4%), a vocal fold lesion was observed. The VHI and psychosomatic well-being did not differ significantly between patients with and without a vocal fold lesion. The patients with a vocal fold lesion showed lower scores on the Dysphonia Severity Index (DSI) compared with those without a vocal fold lesion. However, the DSI was not correlated with voice handicap and psychosomatic well-being, except for the VHI physical subscale. CONCLUSION: Objective measurement does not necessarily correlate with the subjective appraisal of the patient's voice handicap and psychosomatic well-being. Furthermore, the criterion of the presence of a vocal fold lesion as the base of indemnity that is applied by health insurance institutions should be questioned.

Contains fulltext : 110206.pdf (Publisher’s version ) (Closed access) BACKGROUND: The treatment of drooling is important to families that experience the daily impact and research to elucidate clinical factors that play a role in the outcome of drooling treatment should be encouraged. AIM: To define clinical factors that influence therapy outcome of submandibular Botulinum Toxin (BoNT-A) injections for drooling. METHODS: Prospectively collected data of 128 children with cerebral palsy were evaluated; 80 spastic and 48 dyskinetic movement disorder, mostly Gross Motor Function Classification System III and higher; over 70% had an IQ