Abstract:
:Attention-deficit and hyperactivity disorder (ADHD) is a common psychiatric disorder with a worldwide prevalence of 5-6% in children and 4.4% in adults. Recently, copy number variations (CNVs) have been implicated in different neurodevelopmental disorders such as ADHD. Based on these previous reports that focused on pediatric cohorts, we hypothesize that structural variants may also contribute to adult ADHD and that such genomic variation may be enriched for CNVs previously identified in children with ADHD. To address this issue, we performed for the first time a whole-genome CNV study on 400 adults with ADHD and 526 screened controls. In agreement with recent reports in children with ADHD or in other psychiatric disorders, we identified a significant excess of insertions in ADHD patients compared to controls. The overall rate of CNVs >100 kb was 1.33 times higher in ADHD subjects than in controls (p = 2.4e-03), an observation mainly driven by a higher proportion of small events (from 100 kb to 500 kb; 1.35-fold; p = 1.3e-03). These differences remained significant when we considered CNVs that overlap genes or when structural variants spanning candidate genes for psychiatric disorders were evaluated, with duplications showing the greatest difference (1.41-fold, p = 0.024 and 2.85-fold, p = 8.5e-03, respectively). However, no significant enrichment was detected in our ADHD cohort for childhood ADHD-associated CNVs, CNVs previously identified in at least one ADHD patient or CNVs previously implicated in autism or schizophrenia. In conclusion, our study provides tentative evidence for a higher rate of CNVs in adults with ADHD compared to controls and contributes to the growing list of structural variants potentially involved in the etiology of the disease.
journal_name
J Psychiatr Resjournal_title
Journal of psychiatric researchauthors
Ramos-Quiroga JA,Sánchez-Mora C,Casas M,Garcia-Martínez I,Bosch R,Nogueira M,Corrales M,Palomar G,Vidal R,Coll-Tané M,Bayés M,Cormand B,Ribasés Mdoi
10.1016/j.jpsychires.2013.10.022subject
Has Abstractpub_date
2014-02-01 00:00:00pages
60-7eissn
0022-3956issn
1879-1379pii
S0022-3956(13)00339-7journal_volume
49pub_type
杂志文章abstract::Alterations in the density and size of pyramidal neurons in the prefrontal cortex have been described in schizophrenia and mood disorder. However, the changes are generally modest and have not always been replicated. We investigated the possibility that specific pyramidal neuron sub-populations, defined by their immun...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/s0022-3956(03)00075-x
更新日期:2003-11-01 00:00:00
abstract::Studies investigating cortisol secretion in patients with generalized anxiety disorder (GAD) have reported heterogeneous findings. Further, current knowledge on the specificity of endocrine changes for GAD and/or comorbid major depression (MD) is limited. Hence, the current study investigated long-term integrated cort...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2016.09.024
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:To examine the possibility that structural damage to the brain may play a role in the pathogenesis of schizophrenia by measuring the level of plasma S-100B, a calcium-binding protein found predominantly in the cytosol of glial cells. METHOD:Fifty-seven Chinese psychiatric inpatients who met DSM-IV diagnosis of...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2005.11.006
更新日期:2007-01-01 00:00:00
abstract::The investigation of neural substrates of autism spectrum disorder using neuroimaging has been the focus of recent literature. In addition, machine-learning approaches have also been used to extract relevant information from neuroimaging data. There are only few studies directly exploring the inter-regional structural...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2012.11.017
更新日期:2013-04-01 00:00:00
abstract::Vasopressin 1B (V1B) receptor has a pivotal role in the regulation of the hypothalamus-adrenal-pituitary axis, and V1B receptor antagonists have shown efficacy in a number of preclinical models of depression. The efficacy and safety of, TS-121 (active ingredient: THY1773), a novel V1B receptor antagonist, was investig...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2020.05.017
更新日期:2020-09-01 00:00:00
abstract::The amygdala is innervated by the cholinergic system and is involved in major depressive disorder (MDD). Evidence suggests a hyper-activate cholinergic system in MDD. Hippocampal Cholinergic Neurostimulating Peptide (HCNP) regulates acetylcholine synthesis. The aim of the present work was to investigate expression lev...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2015.02.006
更新日期:2015-04-01 00:00:00
abstract::This study examined dispositional emotion-, personality/temperament-, and reward-related variables in relation to post-surgery eating pathology and weight-change among 107 adults who underwent Roux-en-Y gastric bypass (RYGB) or laparoscopic adjustable gastric banding (LAGB). As part of a prospective cohort study, annu...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2019.10.014
更新日期:2020-01-01 00:00:00
abstract::Sexual child abuse is one of the most destructive events for child development. One possible approach to avert it is the preventive treatment of individuals with a sexual interest in children. The aim of the current eye tracking study was to compare people with a self-reported sexual interest in children who participa...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2017.10.004
更新日期:2018-01-01 00:00:00
abstract::Exposure to early life stress (ELS) is strongly associated with poor treatment outcomes, particularly for trauma-associated disorders such as depression. Little research to date, however, has examined the potential effects of ELS on outcomes with newer treatments, such as repetitive transcranial magnetic stimulation (...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2014.01.014
更新日期:2014-05-01 00:00:00
abstract::Schizophrenic patients are known to experience difficulties in emotional information processing, yet knowledge of their physiological responsivity to emotional stimuli is limited. The purpose of this study was to investigate the physiological reactions of schizophrenic patients to emotional stimuli. We presented pictu...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2004.11.004
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:At effective doses, patients with major depressive disorder (MDD) treated with duloxetine have been found to experience significant symptom improvement as measured by HAMD(17) total score. In addition, duloxetine-treated patients have significantly higher remission and response rates compared with placebo. Th...
journal_title:Journal of psychiatric research
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.jpsychires.2006.06.013
更新日期:2007-04-01 00:00:00
abstract::This study explored the effect of elevated systemic cortisol levels on plasma epinephrine and norepinephrine, and hemodynamic variables, in patients with active Cushing's syndrome; ratings of depressed mood were also obtained. Norepinephrine levels were significantly negatively correlated with 24 h urinary free cortis...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/0022-3956(95)00017-y
更新日期:1995-09-01 00:00:00
abstract:BACKGROUND:Previous research has demonstrated altered neuronal responses to visual stimulation with food in anorexia nervosa, varying with the motivational state of hunger or satiety. The aim of the present fMRI study was to assess hunger- and satiety-dependent alterations in the gustatory processing of stimulation wit...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2010.07.012
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND:Dimenhydrinate (DMH) is an antihistamine used to treat nausea and vomiting. Although widely available in pharmacies as an over the counter medication, there have been reports of potential DMH tolerance and dependence and a possible euphoric potential accompanying heavy use (>100 mg/day). Despite the potentia...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2020.10.032
更新日期:2020-10-30 00:00:00
abstract::The implicit and explicit memory in patients with obsessive-compulsive disorder (OCD) was investigated using the event-related potential (ERP). For the assessment of implicit memory, a lexical decision task was administered. Among a total of 320 words and 140 non-words, 200 words were repeated, while the remaining 120...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2005.05.007
更新日期:2006-09-01 00:00:00
abstract::Gilles de la Tourette syndrome (GTS) can manifest as debilitating, medically-refractory tics for which deep brain stimulation (DBS) of the centromedian-parafascicular complex (CM) can provide effective treatment. However, patients have reported benefit with activation of contacts dorsal to the CM and likely in the ven...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2020.09.024
更新日期:2021-01-01 00:00:00
abstract::Although serotonin (5-HT) genes are thought to be involved in the etiology of bulimia nervosa and binge eating, findings from molecular genetic studies are inconclusive. This may be due to limitations of past research, such as a failure to consider the influence of quantitative traits and gene-environment interactions...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2009.05.002
更新日期:2009-12-01 00:00:00
abstract::We compared unipolar depressed patients (N = 32) with normal controls (N = 38) for their prolactin responses on the thyrotropin releasing hormone test. Depressed patients showed prolactin responses similar to sex matched controls. Among the depressed patients there were no significant differences for prolactin respons...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/0022-3956(88)90007-6
更新日期:1988-01-01 00:00:00
abstract::Bipolar disorder (BD) is characterized by frequent recurrence, incomplete recovery, cognitive dysfunction and poor functioning. Impairment lingers in the interepisodic period and mechanisms leading to this dysfunctional state are not fully comprehended. To our knowledge the association of biological rhythm dysfunction...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2009.08.003
更新日期:2010-03-01 00:00:00
abstract::Research indicates that distress tolerance exhibits a complicated relationship with risk factors for suicidal behavior. Specifically, low self-reported distress tolerance has been linked to perceived burdensomeness and thwarted belongingness. Contrastingly, high self-reported distress tolerance has been linked to the ...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2012.02.015
更新日期:2012-06-01 00:00:00
abstract::In order to investigate the functional basis of the frequently described deficits of schizophrenia patients in Trail Making Test B (TMT-B) performance, the performance process was analyzed based on the interaction of eye and hand movements. In a longitudinal design, 23 acute schizophrenia patients, 17 acute depressive...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/s0022-3956(02)00050-x
更新日期:2002-11-01 00:00:00
abstract:BACKGROUND:Studies evaluating leptin levels in patients with first-episode psychoses (FEP) have been inconclusive, and apparently, the high levels of leptin reported in patients with schizophrenia may be associated with weight gain. The aim of this study was to evaluate leptin levels at the early stages of the disease ...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2019.01.006
更新日期:2019-04-01 00:00:00
abstract::Many individuals who die by suicide or attempt suicide have no pre-existing psychiatric record. In these cases determination of the presence of mental illness at the time of the suicidal act depends on diagnostic interviews with different informants, but the reliability of such interviews is unknown. To address this i...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2017.12.003
更新日期:2018-03-01 00:00:00
abstract::Trauma and stress-related disorders (e.g., Acute Stress Disorder; ASD and Post-Traumatic Stress Disorder; PTSD) that develop following a traumatic event are characterized by cognitive-affective dysfunction. The cognitive and affective functions disrupted by stress disorder are mediated, in part, by glutamatergic neura...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2017.04.010
更新日期:2017-08-01 00:00:00
abstract::Major depressive disorder (MDD) may involve alterations in brain functional connectivity in multiple neural circuits and present large-scale network dysfunction. Patients with treatment-resistant depression (TRD) and treatment-sensitive depression (TSD) show different responses to antidepressants and aberrant brain fu...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2016.07.011
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:The dexamethasone-corticotropin releasing hormone (Dex-CRH) test may differentially predict which depressed patients will respond to antidepressant medication. However, a comprehensive analysis of the safety of this test in psychiatric patients has not previously been performed. METHODS:We conducted a poole...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2010.04.020
更新日期:2011-01-01 00:00:00
abstract::Psychological distress and coping styles have been suggested to relate to altered function in the hypothalamic-pituitary-adrenal (HPA) axis, although there remains much to be understood about their relationships. High and low cortisol levels (or reactivity) both represent HPA axis dysfunction, with accumulated evidenc...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2010.02.007
更新日期:2010-10-01 00:00:00
abstract::The aim of this study was to estimate suicide risk during hospitalization and in the year following discharge for patients with mental disorders. All suicide cases in Sweden 18 years and older, between 1991 and 2003 (N=20,675; 70% male), were individually matched to 10 controls from the general Swedish population. Dis...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2010.02.003
更新日期:2010-09-01 00:00:00
abstract:INTRODUCTION:Doublecortin (DCX) and polysialilated neural cell adhesion molecule (PSA-NCAM), two proteins associated with immature neuronal phenotypes and elevated neuroplasticity in the adult brain, have recently been identified in the mammalian amygdala, and evidence from rodent studies suggests that stress may modif...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2012.11.013
更新日期:2013-03-01 00:00:00
abstract::Evidence is accumulating that aldosterone may exert central actions and influence mental functions. The aim of the present study was to test the hypothesis that major depressive disorder affects the diurnal variation of salivary aldosterone and that aldosterone concentrations reflect the duration and severity of the d...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2017.04.011
更新日期:2017-08-01 00:00:00