Search results for "endophenotype"
showing 10 items of 31 documents
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
2016
International audience; Learning disabilities (LDs) are a clinically and genetically heterogeneous group of diseases. Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabilities and LDs, highlighting the implication of neuron-specific post-mitotic transcription factors and synaptic proteins as candidate genes. We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in three patients. The 870 kb microdeletion encompassed the brain-expressed gene LRFN2, which encodes for a synaptic cell adhesion molecule. Neuropsychological assessment identified selective w…
A Genome-Wide Association Study of Attention Function in a Population-Based Sample of Children
2016
BACKGROUND: Attention function filters and selects behaviorally relevant information. This capacity is impaired in some psychiatric disorders and has been proposed as an endophenotype for Attention-Deficit/Hyperactivity Disorder; however, its genetic basis remains largely unknown. This study aimed to identify single nucleotide polymorphism (SNPs) associated with attention function. MATERIALS AND METHODS: The discovery sample included 1655 children (7-12 years) and the replication sample included 546 children (5-8 years). Five attention outcomes were assessed using the computerized Attentional Network Test (ANT): alerting, orienting, executive attention, Hit Reaction time (HRT) and the stand…
Bipolar disorders and Rorschach: State of the art
2010
International audience; This article is a review of the literature concerning the use of the Rorschach test in the context of bipolar disorders. Even though the first research dates back to the origin of the test, very few studies have been conducted so far. The known research mostly concerns: the description of the psychological functioning of bipolar patients throughout the different phases of the illness, the comparison with other psychopathological designs in order to set up a differential diagnosis (unipolar disorders, schizophrenic disorders, schizoaffective disorders) and to seek endophenotypes. This article aims at summarizing the findings of these studies and at discussing their me…
An Autistic Endophenotype and Testosterone Are Involved in an Atypical Decline in Selective Attention and Visuospatial Processing in Middle-Aged Women
2015
Mothers of offspring with autism spectrum disorders (ASD) could present mild forms of their children’s cognitive characteristics, resulting from prenatal brain exposure and sensitivity to testosterone (T). Indeed, their cognition is frequently characterized by hyper-systemizing, outperforming in tests that assess cognitive domains such as selective attention, and fine motor and visuospatial skills. In the general population, all these start to decline around the mid-forties. This study aimed to characterize whether middle-aged women who are biological mothers of individuals with ASD had better performance in the aforementioned cognitive skills than mothers of normative children (in both gro…
Disentangling common and specific neural subprocesses of response inhibition.
2012
article i nfo Response inhibition is disturbed in several disorders sharing impulse control deficits as a core symptom. Since response inhibition is a cognitively and neurally multifaceted function which has been shown to rely on differing neural subprocesses and neurotransmitter systems, further differentiation to define neurophys- iological endophenotypes is essential. Response inhibition may involve at least three separable cognitive sub- components, i.e. interference inhibition, action withholding, and action cancelation. Here, we introduce a novel paradigm - the Hybrid Response Inhibition task - to disentangle interference inhibition, action withholding and action cancelation and their…
Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean Spain…
2005
Both neural development and prefrontal cortex function are known to be abnormal in schizophrenia and bipolar disorder. In order to test the hypothesis that these features may be related with genes that regulate neuronal migration, we analyzed two genomic regions: the lissencephaly critical region (chromosome 17p) encompassing the LIS1 gene and which is involved in human lissencephaly; and the genes related to the platelet-activating-factor, functionally related to LIS1, in 52 schizophrenic patients, 36 bipolar I patients and 65 normal control subjects. In addition, all patients and the 25 control subjects completed a neuropsychological battery. Thirteen (14.8%) patients showed genetic varia…
Global and regional cortical thinning in first-episode psychosis patients: relationships with clinical and cognitive features
2010
BackgroundThe thickness of the cortical mantle is a sensitive measure for identifying alterations in cortical structure. We aimed to explore whether first episode schizophrenia patients already show a significant cortical thinning and whether cortical thickness anomalies may significantly influence clinical and cognitive features.MethodWe investigated regional changes in cortical thickness in a large and heterogeneous sample of schizophrenia spectrum patients (n=142) at their first break of the illness and healthy controls (n=83). Magnetic resonance imaging brain scans (1.5 T) were obtained and images were analyzed by using brains2. The contribution of sociodemographic, cognitive and clinic…
Increased impulsivity as a vulnerability marker for bipolar disorder: Evidence from self-report and experimental measures in two high-risk populations
2015
Abstract Background Heightened impulsivity has been suggested as a possible risk factor for bipolar disorder (BD). However, studies on high-risk populations are scarce and have mainly focused on individuals with a genetic risk. The present study investigated two high-risk samples for BD with regard to several aspects of the impulsivity construct. Methods Unaffected relatives of BD patients (genetically defined high-risk group, N=29) and participants scoring high on the Hypomanic Personality Scale (psychometrically defined high-risk sample, N=25) were being compared to respective control groups (N=27 and N=25) using a multi-method approach. Participants were accessed on the Barratt Impulsive…
Bipolar disorders and affective temperaments: a national family study testing the "endophenotype" and "subaffective" theses using the TEMPS-A Buenos …
2007
The purpose of this study is to examine the prevalence of affective temperaments between clinically unaffected relatives of bipolar patients and secondarily to investigate the impact of these "subaffective" forms on their quality of life (QoL).The study was performed in seven sites across Argentina. We administered the scales TEMPS-A and Quality of Life Index to a sample of 114 non-ill first degree relatives of bipolar disorder patients ("cases") and 115 comparison subjects without family history of affective illness ("controls"). We used The Mood Disorder Questionnaire to rule out clinical bipolarity.Mean scores on all TEMPS-A subscales were significantly higher in cases, except for hypert…
Bipolar I and Bipolar II Disorder: Cognition and Emotion Processing
2006
Background. Cognitive impairment may be part of the endophenotype of bipolar disorder (BP), but little is known about patterns and severity of impairment in BP subgroups and their relation to depression. The same applies to deficits in emotion processing known to be present in BP.Method. To explore the relationship between depression and impairment in cognition and emotion processing and the differences between BP subgroups, we assessed 36 (25 BP I and 11 BP II) patients using a cognitive battery and a facial emotion recognition task.Results. BP patients were impaired compared to published norms on memory, naming and executive measures (Binomial Single Proportion tests, p<0·05). Cognitiv…