Specific Cognitive Dysfunctions Research Articles

Cognitive dysfunction and psychopathology: a cohort study of adults with intellectual developmental disorder.

Cognitive impairment of intellectual developmental disorders (IDD) is determined by several different combinations of specific cognitive alterations. People with IDD present a rate of mental health problems that is up to 4 times higher than that of the general population. Despite this, the relationship between specific cognitive dysfunctions and co-occurring mental disorders has not been adequately studied. The aim of the present paper is to investigate the association between specific cognitive dysfunctions and specific psychiatric symptoms and syndromes in people with IDD. One hundred and twenty adults with mild to moderate IDD living in residential facilities underwent a clinical and instrumental assessment for specific cognitive and psychopathological features. Participants with IDD and ASD have significantly lower scores compared to those without respect to who has not the diagnosis on the Processing Speed Index (PSI) and Perceptual Reasoning Index (PRI) on the WAIS-IV and higher time scores on the TMT A. Moreover, there is a significant association between years of hospitalisation and TMT B and TMT BA time scores; the longer a participant with IDD was hospitalised, the worse their performance on the TMT. Although not statistically significant, many psychopathological clusters showed substantial cognitive profiles. Although further research is needed, neuropsychological and IQ tests scores seem to be differently associated to various psychopathological conditions co-occurring with IDD, and with ASD especially. Cognitive assessment seems to support diagnosis and treatment of psychopathological co-occurrences in persons with IDD, also in consideration of indirect implications including a better knowledge of the patient's characteristics beyond IQ deficit.

Specific cognitive dysfunctioning and vulnerability to specific psychopathology: A descriptive study on intellectual developmental disorder (intellectual disability)

IntroductionIntellectual Developmental Disorder (IDD) is diagnosed with cognitive and adaptive behaviour evaluations. There is increasing evidence of a high prevalence of psychiatric disorders comorbid with IDD. The relationship between specific cognitive dysfunctions and psychiatric vulnerability may provide the basis for a paradigm shift from “intellectually below average IQ” to “neuropsychological characterization”.Objectives1) reassessing an IDD sample in cognitive profile and psychiatric comorbidities 2) investigating the correlations between specific cognitive dysfunctions and specific psychiatric diagnoses in IDD.Methods120 individuals with IDD from 3 Italian facilities were consecutively evaluated, one group with mild IDD, using WAIS-IV or Leiter-3, TMT, Stroop and TOL tests, after which a professional caregiver did individual interviews (Vineland Adaptive Behavior Scale-II, SPAIDD-G, and STA-DI) to evaluate the patient adaptive behaviour, psychiatric comorbidities and presence of ASD. The second group (more severe IDD), was evaluated only with professional caregiver assessment tools.Results90 males and 30 females, mean age 57 years, institutionalized for a mean period of 36.44 years. 52% had no education, 19% a middle school diploma. IDD diagnoses: borderline 3%, mild 16%, moderate 11%, moderate-severe 4%, severe 59%, profound 0%.11% comorbid ASD diagnosis, 29% with ASD after diagnostic re-assessment (STA-DI). 89% physical comorbidities, 58% psychiatric comorbidities, 56% psychoses (Fig. 1). Psychiatric comorbidities re-assessment (SPAIDD-G) identified a significant number of disorders (Fig. 2), despite the medical records showed a low prevalence of psychiatric diagnoses. The consistent quantity of psychotropic drugs prescribed in the sample, possibly reflects the real prevalence of psychopathology. Pearson correlations (p<0.05). WAIS-IV and SPAIDD-G (N=29): Verbal Comprehension Index correlates with anxiety disorder and impulse control disorder; Perceptual Reasoning Index correlates with nutrition/feeding disorder; Processing Speed Index correlates with nutrition/feeding disorder and sexual disorder; IQ correlates with ASD, nutrition/feeding, anxiety, sexual disorders. Leiter-3 and SPAIDD-G (N=14): Form Completion and non-verbal IQ correlate with OCD negatively.Image:Image 2:ConclusionsIn conclusion, the SPAIDD-G evaluations revealed a greater prevalence of psychopathology than reported in the medical records. Using psychopathological screening tools can improve the diagnostic process in residential facilities for IDD cases. Pearson’s analyses revealed the need to further investigate the correlation between cognitive dysfunctions and psychopathological vulnerability, studying intelligence as a multi-component model and identifying specific behavioural and cognitive phenotypes in IDD cases.Disclosure of InterestNone Declared

Olfactory Impairment Correlates with Executive Functions Disorders and Other Specific Cognitive Dysfunctions in Parkinson's Disease.

Olfactory and cognitive disorders represent important non-motor symptoms in Parkinson's disease (PD). No clear evidence was reported about association of specific cognitive domains and olfactory impairment. The aim of this study was to evaluate the association between olfactory dysfunction and specific cognitive domains in PD patients compared to controls. 178 PD patients and 98 controls were enrolled and evaluated for odor threshold (OT), discrimination (OD), identification (OI), and TDI score using the Sniffin' Sticks test. Cognitive function was evaluated using the Montreal Cognitive Assessment scale with six sub-scores: Orientation (OIS), Attention (AIS), Language (LIS), Visuospatial (VIS), Memory (MIS), and Executive index scores (EIS). Statistically significant correlations were observed between OT versus, LIS, and between TDI score versus EIS. Multivariate linear regression analysis, including age and sex which are well-known predictors of olfactory dysfunction, showed that, among specific cognitive domains, only LIS was significant predictor for OT, VIS was a significant predictor for OD, while both EIS and AIS were significant predictors for OI, and finally only EIS was significant predictor for TDI score. Olfactory disorders in PD patients appear commonly related to dysfunction of specific cognitive domains, with strict association between global olfactory impairment and executive function deficits.

Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale

The cerebellar cognitive affective syndrome scale (CCAS-S) was designed to detect specific cognitive dysfunctions in cerebellar patients but is scarcely validated in spinocerebellar ataxias (SCA). The objective of this study is to determine the usefulness of the CCAS-S in a Cuban cohort of SCA2 patients and the relationship of its scores with disease severity. The original scale underwent a forward and backward translation into Spanish language, followed by a pilot study to evaluate its comprehensibility. Reliability, discriminant, and convergent validity assessments were conducted in 64 SCA2 patients and 64 healthy controls matched for sex, age, and education. Fifty patients completed the Montreal Cognitive Assessment (MoCA) test. The CCAS-S showed an acceptable internal consistency (Cronbach's alpha = 0.74) while its total raw score and the number of failed tests showed excellent (ICC = 0.94) and good (ICC = 0.89) test-retest reliability, respectively. Based on original cut-offs, the sensitivity of CCAS-S to detect possible/probable/definite CCAS was notably high (100%/100%/91%), but specificities were low (6%/30/64%) because the decreased specificity observed in four items. CCAS-S performance was significantly influenced by ataxia severity in patients and by education in both groups. CCAS-S scores correlated with MoCA scores, but showed higher sensitivity than MoCA to detect cognitive impairments in patients. The CCAS-S is particularly useful to detect cognitive impairments in SCA2 but some transcultural and/or age and education-dependent adaptations could be necessary to improve its diagnostic properties. Furthermore, this scale confirmed the parallelism between cognitive and motor deficits in SCA2, giving better insights into the disease pathophysiology and identifying novel outcomes for clinical trials.

Clinical and Neuropsychological Correlates of Prefrailty Syndrome.

Physical frailty is closely associated with cognitive impairment. We aim to investigate the neuropsychological profiles of prefrail and non-frail dementia-free community-dwelling older adults using a comprehensive neuropsychological evaluation, and to examine the association between specific frailty criteria and clinical and neuropsychological scores. Participants completed a comprehensive standardized neuropsychological evaluation (covering cognitive domains such as memory, executive functions, language and attention), and frailty assessment. Frailty was assessed according to biological criteria: unintentional weight loss, exhaustion, low physical activity, slowness, and weakness. The sample comprised 60 dementia-free community-dwelling adults, aged 65 years or older (range 65–89 years; 60.0% women). Forty-two participants were classified as robust (no frailty criteria present), and 18 as prefrail (1 or 2 frailty criteria present). We explored neurocognitive differences between the groups and examined the association between specific criteria of frailty phenotype and clinical and neuropsychological outcomes with bivariate tests and multivariate models. Prefrail participants showed poorer cognitive performance than non-frail participants in both memory and non-memory cognitive domains. However, delayed episodic memory was the only cognitive subdomain that remained significant after controlling for age, gender, and educational level. Gait speed was significantly associated with general cognitive performance, immediate memory, and processing speed, while grip strength was associated with visual episodic memory and visuoconstructive abilities. Both gait speed and grip strength were negatively associated with depressive scores. Our results suggest that prefrailty is associated with cognitive dysfunction. The fact that specific cognitive domains may be susceptible to subclinical states of physical frailty may have important clinical implications. Indeed, early detection of specific cognitive dysfunctions may allow opportunities for reversibility.

Relationships Between Cognitive Dysfunction and Health-Related Quality of Life Among Older Persons in Taiwan: A Nationwide Population-Based Survey.

To examine the relationships between cognitive dysfunction status and quality of life. Secondary analysis of a nationwide population-based survey (≥65 years) in Taiwan. The 5-dimension EuroQoL questionnaire (EQ-5D) was completed by 10 013 participants. Participants with mild cognitive impairment (MCI; odds ratio = 4.88), very mild dementia (VMD; 7.96), or dementia (32.85) were more likely than those with normal cognition to report self-care problems. Participants with MCI (3.86), VMD (9.26), or dementia (31.61) were more likely to have usual-activity problems, and those with MCI (3.04), VMD (3.82), or dementia (9.23) were more likely to have mobility problems. Participants with MCI (2.10 and 2.14), VMD (2.77 and 2.18), or dementia (3.04 and 3.02) were more likely to report pain/discomfort and anxiety/depression. Dementia was negatively associated with EQ-5D, especially self-care, usual activities, and mobility. Mild cognitive impairment or VMD was also negatively associated, with VMD more negatively associated. Developing interventions for patients with specific cognitive dysfunctions is critical.

Dealing with specific cognitive dysfunctions associated with psychiatric vulnerability in intellectual developmental disorders

IntroductionDespite the increasing evidence of common neurodevelopmental alterations and high simultaneous or sequential co-occurrence, the relationship between specific cognitive dysfunctions and psychiatric vulnerability has not been adequately studied, not even in people with intellectual developmental disorders (IDD), whose rate of mental health problems is up to 4 times higher than the general population.AimThe aim of the present paper is to investigate the correlation between specific cognitive dysfunctions or dysfunctional cognitive patterns and the presence of specific psychiatric symptoms and syndromes in people with IDD.MethodsA sample of 52 individuals with IDD consecutively attending a clinical facility for multidisciplinary evaluation, in Florence, Italy was assessed through the SPAID (psychiatric instrument for intellectual disabled adult) system, the WAIS III - R (Wechsler adult intelligence scale III – Revised), the TMT (trial making test), and other neuropsychological tools. Psychiatric diagnoses were formulated by expert clinicians in accordance to DC-LD or DM-ID criteria. The main procedure of the data statistical elaboration was the calculation of frequency and correlation indexes.ResultsSome relevant correlations have been found, that between executive frontal functions, autistic traits and impulse control disorder, and that between working memory and bipolar disorder were among the strongest.ConclusionsIn people with IDD some cognitive alterations or ‘characteristics’ significantly correlate with the presence of psychiatric disorders. The possibility to understand the nature of this relationship seems to increase with the degree of specificity of variables in both the cognitive and the psychopathological assessment.

Predictors of neurocognitive impairment at 2 years after a first-episode major depressive disorder

BackgroundNeurocognitive impairment is a contributor to major depressive disorder (MDD). However, MDD patients show great variability in the level and course of deficits. The present longitudinal study was to identify predictors of neurocognitive impairment in first-episode MDD patients. MethodsNeurocognitive performance was analyzed in a cohort of 100 patients at 2years after a first-episode MDD. Subgroups, deficit type vs. non-deficit type, were compared on baseline clinical, neuropsychological, premorbid and sociodemographic characteristics. The analysis was performed using the multivariate logistic regression to obtain a model for neurocognitive impairment determination. The predicted probabilities of multivariate logistic regression were analyzed using receiver operating characteristic (ROC) curve. ResultsFifty-two percent of MDD participants presented general neurocognitive impairment. The regression analyses demonstrated that clinical and sociodemographic characteristics were not predictive variables. A model composed of processing speed, executive function, and attention, dexterity correctly classified 85.8% of the MDD patients with deficit type. ROC curve indicated that the changes of these three cognitions could identify MDD with deficit type from MDD with non-deficit type. In addition, ROC curve also indicated that processing speed and executive function could identify MDD from CN subjects. Finally, processing speed performance was negatively correlated with Hamilton Depression Scale scores in both MDD with deficit and non-deficit type. ConclusionThe present study provides novel insights on frequency and neurocognitive profile of subtypes of patients showing impairment. Our results suggest that processing speed impairment is a trait dimension of the disorder related to specific cognitive dysfunctions and the severity of depression.

Executive Functioning and Learning Skills of Adolescent Children Born at Fewer than 26 Weeks of Gestation.

AimsTo assess the cognitive and behavioral aspects of executive functioning (EF) and learning skills in extremely preterm (EPT) children compared with term control children aged 10 to 15 years.MethodsA total of 132 of 134 (98% of all eligible survivors) EPT children born at the 2 Swedish regional tertiary care centers from 1992 to 1998 (mean age = 12 years, mean birth weight = 718 g, and mean gestational age = 24.4 weeks) and 103 matched term controls were assessed. General intelligence was assessed using the Wechsler Intelligence Scale for Children (WISC-III-R), and cognitive aspects of EF were analyzed using EF-sensitive subscales of the WISC-III-R and Tower test of the Delis-Kaplan Executive Function Scale (D-KEFS). Behaviors related to EF and learning skills were assessed using the Five to Fifteen questionnaire, which is a validated parent and teacher instrument. Academic performance in school was assessed by teachers’ responses on Achenbach’s Teachers Report Form. Analyses performed included multivariate analyses of covariance (ANCOVA and MANCOVA) and logistic regression analyses.ResultsThe EPT children displayed significant deficits in cognitive aspects of EF compared with the controls, exhibiting decreases on the order of 0.9 SD to 1.2 SD for tasks of verbal conceptual reasoning, verbal and non-verbal working memory, processing speed and planning ability (P <0.001 for all). After excluding the children with major neurosensory impairment (NSI) or a Full Scale intelligence quotient (FSIQ) of < 70, significant differences were observed on all tests. Compared with controls, parents and teachers of EPT children reported significantly more EF-related behavioral problems. MANCOVA of teacher-reported learning skills in children with FSIQ >70 and without major NSI revealed no interactions, but significant main effects were observed for the behavioral composite executive function score, group status (EPT vs control) and FSIQ, for which all effect sizes were medium to large. The corresponding findings of MANCOVA of the parent-reported learning skills were very similar. According to the teachers’ ratings, the EPT children were less well adjusted to the school environment.ConclusionEPT children born in the 1990s who received active perinatal care are at an increased risk of executive dysfunction, even after excluding children with significant neurodevelopmental disabilities. Even mild to moderate executive dysfunctions has a significant impact on learning skills. These findings suggest the need for timely interventions that address specific cognitive vulnerabilities and executive dysfunctions.

Poster Session III

W47. Human Superior Temporal Sulcus Subserves both Concrete and Abstract Social Cognition in Typical DevelopmentMbemba Jabbi*, Ranjani Prabhakaran, Victor Ekuta, Katherine Damme, Brett Cropp, Katherine Roe, Jonathan Shane Kippenhan, Philip Kohn, Alex Martin, Karen F. BermanNational Institute of Mental Health, National Institutes of Health, Bethesda, MarylandBackground: Lesion, electrophysiological and imaging studies in humans and non-human primates implicate the right superior temporal sulcus (STS) in mediating visuospatial awareness (Karnath 2001) and visual social information processing (Haxby et al. 2000). Millisecond-resolved STS oscillatory signals are implicated in decoding the emotional meaning of dynamic facial cues (Jabbi et al. 2014), and dysfunctions of the STS are associated with social cognitive deficits in autism, fragile X syndrome, and schizophrenia. Although the ability to decipher concrete social signals is shown to predict more complex social cognitive skills such as understanding other people’s mental states and intentions and adapting accordingly during social interactions (Ihnen et al. 1998), a convergent neural mechanism linking concrete and abstract social cognitive processes has not been identified. Here, we hypothesized that the magnitude of right STS responsiveness to concrete dynamic emotional cues would predict the neural network underpinnings of abstract social cognition.Methods: Participants: Eighteen typically developing children, ages 5-17 years (mean age=14.35 years; nine females) participated in two fMRI experiments. In experiment1, videos displaying highly concrete depictions of disgusting, pleasant and emotionally neutral facial expressions of gustatory experiences (Jabbi et al. 2007) were presented in a randomized event-related design during fMRI. Participants were required to watch the videos. In experiment2, videos of highly abstract (Weisberg et al. 2012) social and non-social scenes (moving geometric shapes symbolizing social interactions or routine mechanical operations, respectively) were presented to the same participants in a randomized event-related design. For both experiments, participants responded to a post stimulus button prompt after each trial Statistical Analyses: After preprocessing (8mm smoothing) and normalization using statistical parametric mapping (SPM5), one-sample T contrasts were run in SPM5 at the first level to localize BOLD reactivity to observing a) facial expressions of gustatory disgust or pleasure>neutral expressions as the contrast of interest for the concrete condition; and b) socially attributable interaction of geometric shapes>mechanical interaction as the contrast of interest for the abstract condition. The first level contrasts of experiment1 were then analyzed at the second level using a random effects analysis. We extracted right STS regional BOLD response values (percentage change) for each individual as elicited by concrete social cognition, and used these values as predictors of the same individuals’ whole-brain BOLD responses to abstract social cues at the second-level.Results: Viewing of concrete social cues resulted in BOLD response in bilateral STS, frontolimbic regions (bilateral amygdala, parahippocampal gyrus, midbrain and brainstem), as well as visual cortical regions, with the global maximum of activation being registered in the right STS [at MNI coordinate X, Y, Z=54, −44, 20] at p<0.001. The magnitude of BOLD response signals observed during viewing of gustatory facial emotions in the right STS, was found to be strongly predictive of the magnitude of BOLD response observed during abstract social attribution in the temporoparietal including STS, visual cortical areas, parahippocampal gyrus, bilateral amygdala and anterior insula, dorsolateral, dorsomedial and ventrolateral prefrontal cortices bilaterally at p<0.005 FDR corrected.Conclusions: Successful social information processing requires the intact functioning of a complex network of brain regions (Dolan, 2002; Adolphs 2010), but the neural signatures representing the human ability to decipher both concrete and abstract social signals remains largely undefined. Given the high prevalence of social cognitive dysfunctions such as autism and Fragile X syndrome coupled with a lack of well-defined neurobiological correlates of the associated social deficits, we took a novel developmental approach using the brain response patterns of the STS (a well-known social cognitive node) during concrete social cognition to predict regional BOLD response to abstract social cues. We showed that the magnitude of signal change in the right STS during concrete emotional processing was a strong predictor of the magnitude of an extensive network of sensorimotor and fronto-limbic regional response to abstract social cues in the same individuals. Such cross-task analyses, especially when combined with measures of social cognitive dysfunction in developmental cohorts, may hold promise for defining subtle network activation patterns that may serve as biomarkers for specific social cognitive dysfunctions in clinical populations such as autism spectrum disorder.Keywords: STS, Social Cognition, Developmental, fMRI.Disclosure: Nothing to Disclose.

Advancing psychotherapy and evidence-based psychological interventions.

Psychological models of mental disorders guide research into psychological and environmental factors that elicit and maintain mental disorders as well as interventions to reduce them. This paper addresses four areas. (1) Psychological models of mental disorders have become increasingly transdiagnostic, focusing on core cognitive endophenotypes of psychopathology from an integrative cognitive psychology perspective rather than offering explanations for unitary mental disorders. It is argued that psychological interventions for mental disorders will increasingly target specific cognitive dysfunctions rather than symptom-based mental disorders as a result. (2) Psychotherapy research still lacks a comprehensive conceptual framework that brings together the wide variety of findings, models and perspectives. Analysing the state-of-the-art in psychotherapy treatment research, "component analyses" aiming at an optimal identification of core ingredients and the mechanisms of change is highlighted as the core need towards improved efficacy and effectiveness of psychotherapy, and improved translation to routine care. (3) In order to provide more effective psychological interventions to children and adolescents, there is a need to develop new and/or improved psychotherapeutic interventions on the basis of developmental psychopathology research taking into account knowledge of mediators and moderators. Developmental neuroscience research might be instrumental to uncover associated aberrant brain processes in children and adolescents with mental health problems and to better examine mechanisms of their correction by means of psychotherapy and psychological interventions. (4) Psychotherapy research needs to broaden in terms of adoption of large-scale public health strategies and treatments that can be applied to more patients in a simpler and cost-effective way. Increased research on efficacy and moderators of Internet-based treatments and e-mental health tools (e.g. to support "real time" clinical decision-making to prevent treatment failure or relapse) might be one promising way forward.

Binge inhalation of toluene vapor produces dissociable motor and cognitive dysfunction in water maze tasks

Binge inhalation of toluene, a psychoactive chemical found in many household and industrial products, leads acutely to intoxication with comorbid impairments in motor function and cognitive abilities that appear to recover quickly. Recent evidence, however, indicates that the administration of toluene results in marked changes in neurons of the medial prefrontal cortex that persist for relatively longer periods compared with other brain regions. To elucidate the potential toluene-induced (∼5000 ppm) cognitive dysfunctions that continue following the recovery of locomotor abilities, rats were entered into a series of water maze tasks. Following acute toluene intoxication, rats were initially severely impaired in their swimming ability and in their ability to learn and perform a visible platform task. After about 20 min, swimming behavior mostly returned to normal, although cognitive impairments were still evident. Whereas rats with extensive toluene-free training in the maze were able to show normal spatial recall following toluene intoxication, the same acute toluene exposure severely impaired reversal learning, with the rats showing a marked perseveration for the previously learned platform location. Our results indicate that toluene inhalation results in specific cognitive dysfunctions that outlast major impairments in motor abilities, which may be related to impairments in medial prefrontal cortex activity.

Can genetics inform the management of cognitive deficits in schizophrenia?

There is no doubt that schizophrenia has a significant genetic component and a number of candidate genes have been identified for this debilitating disorder. Of note, several of these are implicated in cognition. Cognitive deficits constitute core symptoms of schizophrenia, and while current antipsychotic treatment strategies aim to help psychosis-related symptomatology, the cognitive symptom domain is largely inadequately treated. A number of other pharmacological approaches (e.g. using drugs that target specific neurotransmitter systems) have also been attempted for the amelioration of cognitive deficits in this population; however, these too have had limited success so far. Psychological interventions appear promising, though there has been speculation regarding whether or not these produce long-term functional improvements. Pharmacogenetic studies of the cognitive effects of currently available antipsychotics, although in relatively early stages, suggest that the treatment of cognitive deficits in schizophrenia may be advanced by focusing on genetic variants associated with specific cognitive dysfunctions in the general population and using this to match the most relevant pharmacological and/or psychological interventions with the genetic and cognitive profiles of the target population. Such a strategy would encourage bottom-up advances in drug development and provide a platform for individualised treatment of cognitive deficits in schizophrenia.

Self-concept, emotion and memory performance in schizophrenia

The “self-reference effect” describes better memory for material someone has related to one's self previously. Schizophrenia can affect aspects of the inner self such as own thoughts or actions. Schizophrenia symptoms, therefore, might not only have an influence on the self-concept, including the self-attribution of positive or negative personality traits, but also reduce the self-reference effect. 15 schizophrenia patients and 15 matched healthy controls were asked to decide on positive and negative personality traits across three separate conditions: self-evaluation, other evaluation (of an intimate person), and during a lexical control task, respectively. An unannounced recognition task followed. Patients revealed a negative bias in the evaluation of themselves and of the well-known other person. The reference to a person (oneself, close other) increased later recognition performance. However, patients with schizophrenia revealed an overall decreased recognition performance. The amount of patients’ passivity symptoms, i.e., an increase in the permeability of their “self–other boundary”, correlated negatively with their recognition performance for previously self-referred characteristics and traits referred to the intimate other. This was not the case for lexically processed stimuli or an increase of negative symptoms. Our data underline the necessity of taking into account symptom subgroups when dealing with specific cognitive dysfunctions in schizophrenia.

Cadherins as Targets for Genetic Diseases

The 6-billion human population provides a vast reservoir of mutations, which, in addition to the opportunity of detecting very subtle defects, including specific cognitive dysfunctions as well as late appearing disorders, offers a unique background in which to investigate the roles of cell-cell adhesion proteins. Here we focus on inherited human disorders involving members of the cadherin superfamily. Most of the advances concern monogenic disorders. Yet, with the development of single nucleotide polymorphism (SNP) association studies, cadherin genes are emerging as susceptibility genes in multifactorial disorders. Various skin and heart disorders revealed the critical role played by desmosomal cadherins in epidermis, hairs, and myocardium, which experience high mechanical stress. Of particular interest in that respect is the study of Usher syndrome type 1 (USH1), a hereditary syndromic form of deafness. Studies of USH1 brought to light the crucial role of transient fibrous links formed by cadherin 23 and protocadherin 15 in the cohesion of the developing hair bundle, the mechanoreceptive structure of the auditory sensory cells, as well as the involvement of these cadherins in the formation of the tip-link, a key component of the mechano-electrical transduction machinery. Finally, in line with the well-established role of cadherins in synaptic formation, maintenance, strength, and plasticity, a growing number of cadherin family members, especially protocadherins, have been found to be involved in neuropsychiatric disorders.

MRI and cognitive impairment in Parkinson's disease

Patients with Parkinson's disease (PD) may present impairment in cognitive functions even at early stages of the disease. When compared with the general population, their risk of dementia is five to six times higher. Recent investigations using structural MRI have shown that dementia in PD is related to cortical structural changes and that specific cognitive dysfunctions can be attributed to atrophy in specific structures. We review the structural MRI studies carried out in PD using either a manual region of interest (ROI) approach or voxel-based morphometry (VBM). ROI studies have shown that hippocampal volume is decreased in patients with PD with and without dementia; in addition, hippocampal atrophy correlated with deficits in verbal memory. VBM studies have demonstrated that dementia in PD involves structural changes in limbic areas and widespread cortical atrophy. Findings in nondemented patients with PD are less conclusive, possibly because cognitively heterogeneous groups of patients have been studied. Patients with PD with cognitive impairment and/or visual hallucinations present greater brain atrophy than patients without these characteristics. These findings suggest that cortical atrophy is related to cognitive dysfunction in PD and precedes the development of dementia. Structural MRI might therefore provide an early marker for dementia in PD.

Neuropsychologie in der Psychiatrie – Möglichkeiten und Probleme

Neuropsychology is becoming increasingly important in psychiatric settings. A major aspect of clinical neuropsychology in this area is the assessment of cognitive functioning. Cognitive deficits are common in patients with psychiatric disorders. An accurate analysis of impairments can help to develop treatment strategies that fit the individual's specific needs. However, results of neuropsychological assessments have to be interpreted cautiously in psychiatric patients, the extent to which specific cognitive dysfunctions can be explained as a result of abnormalities in brain structure and specific functional impairments is often exaggerated.

Cognitive Dysfunctions Associated With PTSD: Evidence from World War II Prisoners of War

The authors aim to delineate cognitive dysfunction associated with posttraumatic stress disorder (PTSD) by evaluating a well-defined cohort of former World War II prisoners of war (POWs) with documented trauma and minimal comorbidities. The authors studied a cross-sectional assessment of neuropsychological performance in former POWs with PTSD, PTSD with other psychiatric comorbidities, and those with no PTSD or psychiatric diagnoses. Participants who developed PTSD had average IQ, while those who did not develop PTSD after similar traumatic experiences had higher IQs than average (approximately 116). Those with PTSD performed significantly less well in tests of selective frontal lobe functions and psychomotor speed. In addition, PTSD patients with co-occurring psychiatric conditions experienced impairment in recognition memory for faces. Higher IQ appears to protect individuals who undergo a traumatic experience from developing long-term PTSD, while cognitive dysfunctions appear to develop with or subsequent to PTSD. These distinctions were supported by the negative and positive correlations of these cognitive dysfunctions with quantitative markers of trauma, respectively. There is a suggestion that some cognitive decrements occur in PTSD patients only when they have comorbid psychiatric diagnoses.

Academic performance in children with rolandic epilepsy

The aim of this study was to investigate the frequency of reading, writing, and calculation disabilities in children with typical rolandic epilepsy (RE) and healthy control children. We also aimed to define the possible electroclinical markers of specific cognitive dysfunctions in RE. School abilities were evaluated and compared in 20 children (eight males, 12 females; mean age 10y 3mo [SD 1y 7mo]; range 7y 9mo‐12y 9mo) consecutively diagnosed with typical RE, and a group of 21 healthy controls (nine males, 12 females; mean age 10y 4mo [SD 1y 8mo]; range 7y 6mo‐13y 3mo). All the children received standardized neuropsychological tests. For each patient an exhaustive seizure diary was kept and all the sleep electroencephalogram (EEG) recordings were reviewed. Specific difficulties with reading, writing, and calculation (diagnosed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition) were found in nine out of 20 children with RE and two out of 21 healthy controls (χ2=0.01). The specific learning disabilities in the RE group were correlated with a marked increase in epileptiform discharges during sleep (χ2=0.02) and an early onset of epilepsy (χ2=0.02). Our findings suggest that seizure onset before age 8 years and epileptiform discharges (more than 50% of the sleep EEG recording) in several tracings over more than a year are relevant markers for identifying patients at risk of developing academic difficulties.

Academic performance in children with rolandic epilepsy.

The aim of this study was to investigate the frequency of reading, writing, and calculation disabilities in children with typical rolandic epilepsy (RE) and healthy control children. We also aimed to define the possible electroclinical markers of specific cognitive dysfunctions in RE. School abilities were evaluated and compared in 20 children (eight males, 12 females; mean age 10y 3mo [SD 1y 7mo]; range 7y 9mo-12y 9mo) consecutively diagnosed with typical RE, and a group of 21 healthy controls (nine males, 12 females; mean age 10y 4mo [SD 1y 8mo]; range 7y 6mo-13y 3mo). All the children received standardized neuropsychological tests. For each patient an exhaustive seizure diary was kept and all the sleep electroencephalogram (EEG) recordings were reviewed. Specific difficulties with reading, writing, and calculation (diagnosed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition) were found in nine out of 20 children with RE and two out of 21 healthy controls (chi2=0.01). The specific learning disabilities in the RE group were correlated with a marked increase in epileptiform discharges during sleep (chi2=0.02) and an early onset of epilepsy (chi2=0.02). Our findings suggest that seizure onset before age 8 years and epileptiform discharges (more than 50% of the sleep EEG recording) in several tracings over more than a year are relevant markers for identifying patients at risk of developing academic difficulties.