Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement.
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ABSTRACT:
SUBMITTER: Skakkebæk A
PROVIDER: S-EPMC6226182 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement.
Skakkebæk Anne A Moore Philip J PJ Pedersen Anders Degn AD Bojesen Anders A Kristensen Maria Krarup MK Fedder Jens J Hertz Jens Michael JM Østergaard John R JR Wallentin Mikkel M Gravholt Claus Højbjerg CH
PloS one 20181109 11
Klinefelter syndrome (KS) (47, XXY) is the most common sex chromosome disorder, with a prevalence of 1 in every 660 newborn males. Despite the profound adverse effects of anxiety and depression, and their greater prevalence in KS populations, no research has been conducted to date to identify the determinants of anxiety and depression among patients with KS. We examined the relationships between personality traits, social engagement, and anxiety and depression symptoms among KS patients (n = 69) ...[more]
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Project description:IntroductionThe determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education.MethodsSixty-nine patients with KS and 69 controls were assessed in terms of IQ, NEO personality inventory, the Autism Spectrum Quotient (AQ) scale, and measures of cognitive performance reflecting working memory and executive function.ResultsPatients with KS performed more poorly on memory and executive-function tasks. Patients with KS also exhibited greater neuroticism and less extraversion, openness, and conscientiousness than controls. Memory deficits among patients with KS were associated with lower intelligence, while diminished executive functioning was mediated by both lower intelligence and less social engagement.ConclusionOur results suggest that among patients with KS, memory deficits are principally a function of lower general intelligence, while executive-function deficits are associated with both lower intelligence and poorer social skills. This suggests a potential influence of social engagement on executive cognitive functioning (and/or vice-versa) among individuals with KS, and perhaps those with other genetic disorders. Future longitudinal research would be important to further clarify this and other issues discussed in this research.
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Project description:ObjectivePatients with primary Sjögren's Syndrome (pSS) have diminished health quality and fatigue, arthralgia along with dryness of the mouth and eyes have major impact on their psychological and social aspects of life. The purpose of this study was to determine psychological features of patients with pSS. We analyzed personality, depression and anxiety of patients with primary Sjögren's Syndrome (pSS) in comparison with patients with rheumatoid arthritis (RA) and healthy controls (HC) and assessed their association with sociodemographic factors and comorbidity.MethodsIn 105 pSS patients (mean age 51.34 years, mean disease duration 5.98 years), 52 RA patients (mean age 51.37 years, mean disease duration 8.10 years) and 54 HC (mean age 51.35 years) clinical and sociodemographic characteristics were determined and results analyzed. At enrollment patients and controls completed the Revisited NEO Personality Inventory Five-Factor model (NEO-PI-R), the Zung Self-Rating Depression Scale and the Zung Self-Rating Anxiety Scale. Statistical analyses were performed using SPSS [Version 16.0]. The relative size of the effect was assessed based on standardized estimates of effect size (d).ResultsPatients with pSS, similarly to RA patients had higher scores of Neuroticism (d = 0.46, p = 0.007) and lower scores of Extraversion (d = 0.51, p = 0.001) and Openness for experience (d = 0.65, p = 0.013) compared to HC. There was no significant differences between pSS group and HC in the depression (d = 0.171, p>0.05). However, patients with pSS had higher anxiety in comparison to HC (p<0.0001). In multivariate models, education and satisfaction with family relationships were significant predictors for psychological characteristics of patients, independently of clinical diagnosis.ConclusionsOur study is the first to show that patients with pSS scored high on neuroticism and anxiety and low on sociability. Education and satisfaction with family relationships predisposed to their psychological profile. Psychological assessment of patients with pSS may improve understanding and treatment of this clinical condition.
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Project description:To contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47,XYY syndrome (XYY) or 47,XXY Klinefelter syndrome (KS) and controls and investigate the effect of prenatal diagnosis on the phenotype.Patients included 26 boys with 47,XYY, 82 boys with KS, and 50 control boys (ages 4-15 years). Participants and parents completed a physical examination, behavioral questionnaires, and intellectual assessments.Most boys with XYY or KS had Child Behavior Checklist parental ratings within the normal range. On the Child Behavior Checklist, mean problem behaviors t scores were higher in the XYY versus KS groups for the Problem Behavior, Externalizing, Withdrawn, Thought Problems, and Attention Problems subscales. On the Conners' Parent Rating Scale-Revised, the XYY versus KS group had increased frequency of hyperactive/impulsive symptoms (P < .006). In addition, 50% and 12% of the XYY and KS groups, respectively, had scores >15 for autism screening from the Social Communication Questionnaire. For the boys with KS, prenatal diagnosis was associated with fewer problem behaviors.A subset of the XYY and KS groups had behavioral difficulties that were more severe in the XYY group. These findings could guide clinical practice and inform patients and parents. Boys diagnosed with XYY or KS should receive a comprehensive psychoeducational evaluation and be screened for learning disabilities, attention-deficit/hyperactivity disorder, and autism spectrum disorders.
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Project description:BackgroundDepression and anxiety are common psychiatric complications affecting patients with diabetes mellitus. However, data on the prevalence of depression, anxiety, and associated factors among Malaysian diabetic patients is scarce. The Anxiety, Depression, and Personality Traits in Diabetes Mellitus (ADAPT-DM) study aimed to determine the prevalence of depression and anxiety, and their associated factors in the Malaysian diabetic population.MethodsThis cross-sectional study recruited 300 diabetic patients via convenience sampling from the Endocrine outpatient clinic of Universiti Kebangsaan Malaysia Medical Centre, a tertiary referral healthcare facility in Kuala Lumpur. Socio-demographic characteristics and clinical history were obtained from each participant. The Generalised Anxiety Disorder-7 (GAD-7) was administered to assess anxiety symptoms, the Beck Depression Inventory (BDI) to assess depressive symptoms, the Big Five Inventory (BFI) to evaluate personality traits, and the World Health Organization Quality of Life-BREF (WHOQOL-BREF) to measure quality of life (QOL). Stepwise multiple logistic regression analyses were performed to determine the association between various factors, and depression and anxiety.ResultsThe prevalence of depression was 20% (n = 60) while anxiety was 9% (n = 27). Co-morbid depression (adjusted odds ratio [OR] = 9.89, 95% confidence interval [CI] = 2.63-37.14, p = 0.001) and neuroticism (adjusted OR = 11.66, 95% CI = 2.69-50.47, p = 0.001) increased the odds of developing anxiety, while conscientiousness (adjusted OR = 0.45, 95% CI = 0.23-0.80, p = 0.004) and greater psychological-related QOL (adjusted OR = 0.47, 95% CI = 0.29-0.75, p = 0.002) were protective. Co-morbid anxiety (adjusted OR = 19.83, 95% CI = 5.63-69.92, p < 0.001) increased the odds of depression, while older age (adjusted OR = 0.96, 95% CI = 0.93-0.98, p = 0.002), social relationship-related QOL (adjusted OR = 0.84, 95% CI = 0.71-.0.99, p = 0.047), and physical health-related QOL (adjusted OR = 0.69, 95% CI = 0.58-0.83, p < 0.001) were protective.ConclusionsThe study findings signify the need to screen for co-morbid depression and anxiety, as well as personality traits and QOL, and to include psychosocial interventions when planning a multidisciplinary approach to managing diabetes.
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Project description:The widelyvariable phenotypic spectrum and the different severity of symptoms in men with Klinefelter syndrome (KS) suggest a role for epigenetic mediators. Therefore, the aim of this study is to evaluate the possible involvement of miRNAs in the clinical manifestations of KS. To accomplish this, we performed a transcriptome analysis in peripheral blood mononuclear cells (PBMCs) of 10 non-mosaic KS patients, 10 aged-matched healthy men and 10 aged-matched healthy female controls with normal karyotype. After RNA extraction from PBMC and the preparation of RNA libraries, the samples were sequenced using next generation high-throughput sequencing technology. Expression profiling analysis revealed a significant differential expression of 2 miRNAs in KS compared to male controls. In particular, MIR3648 resulted significantly (q-value?<?0.0001) down-regulated by -19.084- fold, while MIR3687was strongly down-regulated (q-value?<?0.0001) considering KS patients. These results were confirmed by qRT-PCR. The functional analysis of the two transcripts showed that they seem to play a role in breast cancer, hemopoietic abnormalities, immune defects and adipocyte differentiation and fat cell maturation. Therefore, we speculate that both miRNAs may play a role in the immune and metabolic disorders and in the risk of breast cancer development in men with KS.
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Project description:Individuals with Angelman syndrome (AS) are characterized by severe cognitive impairments alongside an enhanced drive for social engagement. As knowledge on imitation skills in this population is limited, we conducted the first controlled study of imitation in AS. We examined how 23 individuals with AS and 21 typically developing young children with similar mental age imitated novel actions in response to socially or non-socially engaging models, and in response to video-recorded versus live demonstrations of novel actions. Individuals with AS imitated as frequently and as accurately as typical young children in response to live demonstrations; but they imitated less frequently and less accurately in response to video-recorded demonstrations. Further, imitation was modulated by whether the demonstrator was socially engaging or emotionally neutral in the AS group, while this modulation was not present in the comparison group. Individuals with higher mental age imitated more frequently and more accurately across groups. Imitation performance in AS appears to be more modulated by the social context compared to typical infants and young children with similar mental age, possibly reflecting an enhanced drive for social engagement. A socially engaging instructional style might facilitate imitative learning in this population.
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