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Background: Health systems need tools to assess patient's experience of service, but existing tools lack reliability and validity assessment. Our aim is to investigate the factor structure, reliability, validity, item parameters and interpretability of the parent version of the Experience of Service Questionnaire (ESQ) for practical use in Greece. Methods: A total of 265 caregivers that were using mental health services in Greece participated in this study as part of the Nationwide cross-sectional survey from the Child and Adolescent Mental Health Initiative (CAMHI). Confirmatory Factor Analysis was used to test factor structure. Reliability of all models were measured with omega coefficients. Tobit regression analysis was used to test for convergent and discriminant validity with specifically designed questions. Item parameters were assessed via Item Response Theory. Interpretability was assessed by means of IRT-based scores. Results: We found that ESQ is best represented and scored as a unidimensional construct, given potential subscales would not have enough reliability apart from a general factor. Convergent and discriminant validity was demonstrated, as caregivers who perceived that their child benefited from the received mental health care had 6.50 higher summed scores (SMD=1.14, p<0.001); while those who believed that their child needed additional help had 5.08 lower summed scores on the ESQ (SMD=-0.89, p<0.001). Average z-scores provided five meaningful categories of services, in terms of user satisfaction, compared to the national average. Conclusions: Our study presents evidence for the reliability and validity of the ESQ and provides recommendations for its practical use in Greece. ESQ can be used to measure experience of service and might help drive improvements in service delivery in the Greek mental health sector.
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The Child and Adolescent Mental Health Initiative (CAMHI) aims to enhance mental health care capacity for children and adolescents across Greece. Considering the need for evidence-based policy, the program developed an open-resource dataset for researching the field within the country. A comprehensive, mixed-method, community-based research was conducted in 2022/2023 assessing the current state, needs, barriers, and opportunities according to multiple viewpoints. We surveyed geographically distributed samples of 1,756 caregivers, 1,201 children/adolescents, 404 schoolteachers, and 475 health professionals using validated instruments to assess mental health symptoms, mental health needs, literacy and stigma, service use and access, professional practices, training background, and training needs and preferences. Fourteen focus groups were conducted with informants from diverse populations (including underrepresented minorities) to reach an in-depth understanding of those topics. A dataset with quantitative and qualitative findings is now available for researchers, policymakers, and society [ https://osf.io/crz6h/ and https://rpubs.com/camhi/sdashboard ]. This resource offers valuable data for assessing the needs and priorities for child and adolescent mental health care in Greece. It is now freely available to consult, and is expected to inform upcoming research and evidence-based professional training. This initiative may inspire similar ones in other countries, informing methodological strategies for researching mental health needs.
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Evidence-based information is essential for effective mental health care, yet the extent and accessibility of the scientific literature are critical barriers for professionals and policymakers. To map the necessities and make validated resources accessible, we undertook a systematic review of scientific evidence on child and adolescent mental health in Greece encompassing three research topics: prevalence estimates, assessment instruments, and interventions. We searched Pubmed, Web of Science, PsycINFO, Google Scholar, and IATPOTEK from inception to December 16th, 2021. We included studies assessing the prevalence of conditions, reporting data on assessment tools, and experimental interventions. For each area, manuals informed data extraction and the methodological quality were ascertained using validated tools. This review was registered in protocols.io [68583]. We included 104 studies reporting 533 prevalence estimates, 223 studies informing data on 261 assessment instruments, and 34 intervention studies. We report the prevalence of conditions according to regions within the country. A repository of locally validated instruments and their psychometrics was compiled. An overview of interventions provided data on their effectiveness. The outcomes are made available in an interactive resource online [ https://rpubs.com/camhi/sysrev_table ]. Scientific evidence on child and adolescent mental health in Greece has now been cataloged and appraised. This timely and accessible compendium of up-to-date evidence offers valuable resources for clinical practice and policymaking in Greece and may encourage similar assessments in other countries.
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Poor social skills in autism spectrum disorder (ASD) are associated with reduced independence in daily life. Current interventions for improving the social skills of individuals with ASD fail to represent the complexity of real-life social settings and situations. Virtual reality (VR) may facilitate social skills training in social environments and situations similar to those in real life; however, more research is needed to elucidate aspects such as the acceptability, usability, and user experience of VR systems in ASD. Twenty-five participants with ASD attended a neuropsychological evaluation and three sessions of VR social skills training, which incorporated five social scenarios with three difficulty levels. Participants reported high acceptability, system usability, and user experience. Significant correlations were observed between performance in social scenarios, self-reports, and executive functions. Working memory and planning ability were significant predictors of the functionality level in ASD and the VR system's perceived usability, respectively. Yet, performance in social scenarios was the best predictor of usability, acceptability, and functionality level. Planning ability substantially predicted performance in social scenarios, suggesting an implication in social skills. Immersive VR social skills training in individuals with ASD appears to be an appropriate service, but an errorless approach that is adaptive to the individual's needs should be preferred.
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PURPOSE: Well-specified phonological representations are important for the development of spoken and written language. This study investigates the types of speech errors and the quality of phonological representations in Greek-speaking school-age children with high-functioning autism spectrum disorder (HF-ASD), as well as the relationship between stored phonological representations and speech output in this sample, according to Stackhouse and Wells' (1997) model. METHOD: All participants completed a phonological and a naming test, and a non-word repetition task. A receptive phonological task was administered to a subgroup of HF-ASD and typically developing (TD) participants. According to performance in the phonological test, the HF-ASD children were categorised as ASD with Speech Sound Disorder (SSD) or ASD without SSD. RESULT: The HF-ASD children made significantly more speech errors and showed significant difficulties in the repetition of non-words and the stored phonological representations compared to the TD group but had the same naming abilities with their TD peers. The ASD children with SSD and without SSD performed alike in the receptive task, indicating that both groups had unspecified phonological representations. CONCLUSION: These results support the hypothesis of distinct phonological representations for speech input and output and highlight the need of using receptive tasks to evaluate underlying phonological knowledge, a process which could allow clinicians to identify the level of speech breakdown.
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Trastorno del Espectro Autista , Trastornos del Desarrollo del Lenguaje , Trastorno Fonológico , Humanos , Niño , Fonética , Habla , LenguajeRESUMEN
Background: Several theories in autism posit that common aspects of the autism phenotype may be manifestations of an underlying differentiation in predictive abilities. The present study investigates this hypothesis in the context of strategic decision making in autistic participants compared to a control group. Method: Autistic individuals (43 adults, 35 male) and a comparison group (42 adults, 35 male) of age and gender matched individuals, played a modified version of the prisoner's dilemma (PD) task where they were asked, if capable, to predict their opponents' move. The predictive performance of the two groups was assessed. Results: Overall, participants in the autism group had a significantly lower number of correct predictions. Moreover, autistic participants stated, significantly more frequently than the comparison group, that they were unable to make a prediction. When attempting a prediction however, the success ratio did not differ between the two groups. Conclusions: These findings indicate that there is a difference in prediction performance between the two groups. Although our task design does not allow us to identify whether this difference is due to difficulty to form a prediction or a reluctance in registering one, these findings could justify a role for prediction in strategic decision making during the PD task.
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Trastorno Autístico , Masculino , Humanos , Trastorno Autístico/diagnóstico , Dilema del Prisionero , Toma de DecisionesRESUMEN
Theophrastus (381-278 B.C.), was the first to adopt the term character for the description of distinct inner psychological and moral features of an individual. In his classic book 'Characters' in a simple style wording he analyses some of his contemporary individuals. The character "Αναίσθητος" (Anaisthetos) has been translated in English as "The Obtuse Man" and in Modern Greek both as "Αναίσθητος", meaning lack of appreciation and "ΒραδÏνους", meaning slowness of mind. Theophrastus' description of this particular character is compatible with the co-occurrence in an adult of two Neurodevelopmental Disorders: the Attention-Deficit Hyperactivity Disorder (ADHD) and the Social Pragmatic Communication Disorder (SPCD), according to the 5th Diagnostic and Statistical Manual of Mental Disorders. Ten out of the twelve statements support the possible occurrence of ADHD while five of them the occurrence of SPCD. The description does not justify a diagnosis of an intellectual disability; therefore, we consider that in the Modern Greek vocabulary the original term «Αναίσθητος¼ ("Anaisthetos"), meaning lack of appreciation, is more accurately corresponding to this particular Theophrastus's character than "ΒραδÏνους" ("Obtuse"), which indicates the presence of low intellectual capacities. Also the lack of repetitive and restrictive interests and behaviours excludes Autism Spectrum Disorder as a possible diagnosis. Minor psychiatric disorders and traits according to the Peripatic School were attributed to the lack of rational control over appetites and behavior. Accordingly, «Αναίσθητος¼ is a phenomenological description of a stigmatizing inappropriate social behavior and the only help that might give is in increasing self-awareness. In our contemporary clinical practice, though, the early recognition and appropriate treatment of Neurodevelopmental Disorders in affected individuals, leads to a better clinical care and may diminish stigmatization. The co-existence of these two disorders in a character in such a different historical context reinforces their validity as diagnostic constructs and provides an example of co-occurrence of Neurodevelopmental Disorders.
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Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastornos del Neurodesarrollo , Masculino , Adulto , Humanos , Trastorno del Espectro Autista/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastornos del Neurodesarrollo/diagnóstico , Conducta Social , Manual Diagnóstico y Estadístico de los Trastornos MentalesRESUMEN
BACKGROUND: Prisoner's dilemma is one of the most popular concepts among scientific literature. In medical literature the majority of prisoner's dilemma experiments with human participants implement computerized means. Despite this, there is no shared validated tool for prisoner's dilemma tasks. METHODS: The application is developed in Javascript programming language and makes use of the pixijs library for WebGL rendering. To create a custom trial, a set of variables have to be set. These refer to the linguistics, user controls, available choices, computer strategy, interaction flow (simultaneous or sequential), opponent's choice prediction requirement, noise induction, human opponent behavior simulation, the way resulted data will be handled and more. Results are in JSON format and include time interval data. RESULTS: We have developed an application which, given the various parameters experimenter can modify, is able to simulate a large number of single player prisoner's dilemma versions. It is open source with no installation requirement, executable by any modern internet browser remotely or locally with the ability to post data results either locally or remotely. Experimenter only has to modify certain starting values in order to create his design of choice. Two examples are included, with initial settings and results, to demonstrate the use and validity of the application. CONCLUSIONS: Our aim is to assist future researchers in their methodological designs. In this scope, our application, has the minimum requirements, can be served either locally or remotely, has a wide range of modifiable parameters and takes care of the resulted data. In the long term, a shared and validated tool would contribute to increasing methodologies' credibility and mitigating cross-validation discrepancies.
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Teoría del Juego , Dilema del Prisionero , Simulación por Computador , Conducta Cooperativa , HumanosRESUMEN
Parenting a child with autism can be particularly stressful and challenging, especially during periods of crises. This study focuses on parenting children with autism during the COVID-19 pandemic in comparison to the economic crisis, six years ago. We administered the same set of questionnaires (CES-D, F-COPES, PSI-SF, and WHOQoL-BREF), along with a demographic characteristic and a COVID-19-related questionnaire to the same group of parents of children with autism as we did six years ago. Results indicated that during the COVID-19 crisis, the level of parenting stress and the distress due to personal factors related to demands of parenting, were significantly lower compared to the economic crisis, while the environment facet of quality of life was significantly higher. The depressive symptomatology was elevated during both periods. Finally, when addressing the pandemic crisis, parents were more likely to passively accept problematic issues, less able to obtain social support, and less able to acquire and accept help from others. In our sample, findings differentiate the genre of crises through the parents' responses regarding the sense of competence in their parental role, their quality of life, and the coping strategies they implemented. The study implies that each crisis must be confronted with particular responses to particular needs.
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The Prisoner's Dilemma (PD) is one of the most popular concepts amongst the scientific literature. The task is used in order to study different types of social interactions by giving participants the choice to defect or cooperate in a specific social setting/dilemma. This review focuses on the technical characteristics of the PD task as it is used in medical literature and describes how the different PD settings could influence the players' behaviour. We identify all the studies that have used the PD task in medical research with human participants and distinguish, following a heuristic approach, seven parameters that can differentiate a PD task, namely (a) the opponent parties' composition; (b) the type of the opponent as perceived by the players; (c) the interaction flow of the game; (d) the number of rounds; (e) the instructions narrative and options that are given to players; (f) the strategy and (g) the reward matrix and payoffs of the game. We describe how each parameter could influence the final outcome of the PD task and highlight the great variability concerning the settings of these parameters in medical research. Our aim is to point out the heterogeneity of such methods in the past literature and to assist future researchers with their methodology design.
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Conducta Cooperativa , Dilema del Prisionero , Humanos , Recompensa , Interacción Social , Evolución BiológicaRESUMEN
The original English language Empathy Quotient (EQ) is a self-reporting questionnaire that measures the construct of empathy in adults of normal intelligence. The EQ is sensitive to gender, and neurodevelopmental disorders. The EQ has been translated to many languages all over the world. The EQ - Greek version may be available through open access from www.autismresearchcentre.com. Aim of the present study was to validate the EQ- Greek version.The study took place in the 1st and 2nd Departments of Psychiatry of the National and Kapodistrian University of Athens (NKUA), "Eginition" and "Attikon" Hospitals respectively, and in the Korydallos Prison Psychiatric Clinic in Athens. Two groups completed the original 60 items version. One group consisted of general population and volunteer students from post graduate training programs (normal control group, N= 127) and the other group of patients recruited from the Adult Neurodevelopmental Disorders Unit of the 1st Department of Psychiatry of NKUA, the outpatients' clinic of the 2nd Department of Psychiatry of NKUA and the Korydallos Prison Psychiatric Clinic (patient group, N=196). Three versions of the EQ were examined: the EQ-40, EQ-28 and EQ-15. All versions showed very good internal validity: Cronbach's a value was 0.902, 0.892 and 0.793 respectively. They all showed good test-retest variability: the Intraclass Correlation Coefficient was 0.928, 0.924 and 0.855 respectively. Concurrent validity examined by the correlation analysis with the Interpersonal Reactivity Index (IRI) showed non-significant correlations between the EQ and the IRI. Exploratory Factor Analysis (EFA) indicated a one-factor structure for the three versions. Confirmatory Factor Analysis (CFA) for the one-factor structure showed a good fit for all the three versions. CFA for the three-factor structures (Cognitive Empathy, Emotional Empathy, Social Skills) showed also a good fit for EQ-28 and the EQ-15. When the EQ-40 was used as a measure of empathy in a single dimension in adults, the EQ discriminated the normal control group from the patients' group. The mean EQ score for the total sample was 35.84 with the lowest scoring being among Autism Spectrum Disorder (ASD) patients. As expected, females scored higher than males (p<0.001). To conclude, the Greek version of EQ showed good psychometric properties and could serve as a useful tool for clinicians to assess empathy in clinical populations and especially in subjects with ASD and other neurodevelopmental disorders.
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Trastorno del Espectro Autista , Empatía , Adulto , Análisis Factorial , Femenino , Humanos , Masculino , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , TraducciónRESUMEN
This study assessed the co-occurrence of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in newly diagnosed adults of normal intelligence and the contribution of trait-based dimensions deriving from the Barkley Adult ADHD Rating Scale-IV (BAARS-IV), the Autism-Spectrum Quotient (AQ), and the Empathy Quotient (EQ) to the differentiation of patients with ADHD, ASD, and ADHD/ASD. A total of 16.1% of patients with ADHD received a co-occurring ASD diagnosis, while 33.3% of patients with ASD received an ADHD diagnosis. Subjects with ADHD or ADHD/ASD had higher scores in all ADHD traits compared to ASD subjects. Compared to the ADHD group, the ASD group had AQ scores that were significantly greater, except for attention to detail. ADHD/ASD co-occurrence significantly increased the score of attention to detail. The total EQ score was greater in the ADHD group. In the stepwise logistic regression analyses, past hyperactivity, current inattention and impulsivity, attention switching, communication, imagination, and total EQ score discriminated ADHD patients from ASD patients. Attention to detail, imagination, and total EQ score discriminated ADHD cases from ADHD/ASD cases, while past hyperactivity and current impulsivity discriminated ASD subjects from ADHD/ASD subjects. Our findings highlight the importance of particular trait-based dimensions when discriminating adults with ADHD, ASD, and co-occurring ADHD/ASD.
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The emotion of disgust evolved as a way to protect oneself from illness and is associated with aspects of disease avoidance. Disgust Scale-Revised (DS-R) (Olatunji et al., 2008) measures the disgust propensity of three kinds of disgust (core, animal reminder, contamination). Contextual factors, such as academic background, might influence DS-R scoring, especially among medical students, where the notion of disease is central. We examined DS-R scoring and the choice of postgraduate studies in medical (n = 94) and psychology (n = 97) students. In an anonymous web-based survey, participants completed the DS-R and a questionnaire including plans for postgraduate studies. Females outnumbered males and scored higher in total DS-R score (p = 0.003). Psychology students scored higher in all three kinds of disgust (p < 0.001 for core disgust and animal reminder, p = 0.069 for contamination disgust), indicating a higher level of disease avoidance. Medical students willing to follow Internal Medicine scored higher in core disgust (p < 0.05), while psychology students willing to study Experimental Psychology scored lower in the animal reminder subscale (p = 0.019 and p < 0.001 for the association between these subscales and the orientation of Medical and Psychology Students, respectively). In conclusion, disgust propensity as rated by DS-R is related to academic background and orientation preferences in postgraduate studies.
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BACKGROUND: Co-occurring psychiatric disorders in adults with Attention Deficit Hyperactivity Disorder (ADHD) and/or Autism Spectrum Disorder (ASD) contribute to the burden of the healthcare and possibly to the delay of diagnosis. Aim of the study was to clinically assess the prevalence and compare lifetime co-occurring psychopathology in a sample of newly diagnosed ADHD and/or ASD adults and discuss the diagnostic challenges they pose. METHODS: The lifetime prevalence rates of ten of the most frequently co-occurring psychiatric diagnoses was registered in 336 adults of normal intelligence who underwent a thorough clinical evaluation for the diagnosis of ADHD and/or ASD for the first time in their lives. Four study groups were formed: the ADHD (n = 151), the ASD (n = 58), the ADHD+ASD (n = 28) and the nonADHD/nonASD (NN) (n = 88) group. RESULTS: At least one co-occurring psychopathology was found in 72.8% of the ADHD group, in 50% of the ASD group, in 72.4% of the ADHD+ASD group and in 76.1% of the NN group (p = 0.004). In all groups the most frequent psychiatric disorder was depressive disorder. The only significant difference regarding the patterns of psychiatric co-occurrence between the ADHD and the nonADHD groups (ASD and NN groups) was found for SUD (p = 0.001). Also, the proportion of subjects with Bipolar Disorder was significantly greater in the NN group as compared to those with ASD (p = 0.025). CONCLUSIONS: Our results support the high prevalence of co-occurring psychiatric disorders in adults with ADHD and/or ASD with the ASD group presenting the lowest rate. The most marked difference between the ADHD and the nonADHD groups was found for SUD. Moreover, our findings highlight the need for a thorough clinical assessment of all referred patients both in the presence and absence of ADHD and/or ASD.
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Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Adulto , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Humanos , PrevalenciaRESUMEN
Nitric oxide (NO), a small molecule generated ubiquitously, targets a plethora of tissues to regulate both physiological and pathophysiological functions. NO overproduction, stimulated by microenvironmental conditions, is the main component that dysregulates the tight balance between its beneficial and damaging roles in ocular homeostasis. Considering the protective functions of NO against glaucoma, its endogenous release facilitates aqueous humor drainage and regulates ocular blood flow, maintaining a normal intraocular pressure. NO overproduction generates free radicals, such as peroxynitrite, which induce a vicious circle of vascular disharmony and dysregulation, transient ischemia, nitrosative stress, neuronal degeneration, and permanent glaucomatic injury. Helicobacter pylori (Hp) is considered a burdening factor of glaucoma. NO overproduction and possible systematic dispersion in Hp infection (Hp-I) could suggest a potential pathophysiological bridge between these conditions. In this review, we aim to elucidate the role of NO in glaucoma with respect to Hp-I, with the aim to stimulate further studies.
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Glaucoma/metabolismo , Infecciones por Helicobacter/metabolismo , Helicobacter pylori/metabolismo , Óxido Nítrico/metabolismo , Ojo/metabolismo , Ojo/patología , Glaucoma/microbiología , Glaucoma/patología , Infecciones por Helicobacter/microbiología , Infecciones por Helicobacter/patología , Helicobacter pylori/patogenicidad , Humanos , Estrés NitrosativoRESUMEN
The aim of this study was to explore the relation between mothers' parenting stress and the functioning of the hypothalamic-pituitary-adrenal axis (HPAA), as expressed by daily salivary cortisol concentrations, in their children diagnosed with attention deficit hyperactivity disorder (ADHD). Seventy-five children aged 6-11 years diagnosed with ADHD predominant hyperactive-impulsive/combined (ADHD-HI/C, N = 49) and inattentive symptoms (ADHD-I, N = 26) and 45 healthy peers and their mothers participated in the study. Μothers completed measures assessing their children's ADHD status, perceived parenting stress (Parenting Stress Index - Short Form, PSI-SF), mothers' symptoms of psychopathology, social support and socioeconomic status. Children's salivary cortisol samples were collected at six different time points on a single day. Mothers of children with ADHD-HI/C reported higher levels of parenting stress than mothers of children with ADHD-I and controls. All PSI-SF subscales showed significant associations with children's cortisol awakening response (CAR) in both ADHD groups, with the exception of the parental distress subscale in the ADHD-I group. In both ADHD groups, the parent-child dysfunctional interaction subscale, the difficult child subscale and the PSI total score were significantly associated with children's CAR. An interrelation is revealed between mothers' high levels of parenting stress and HPAA functioning in children with ADHD. In this population, CAR has been identified as a sensitive peripheral measure of HPAA functioning in children. Lay summaryThis study showed that in families of children diagnosed with ADHD, there is a complex relation between the mothers' high levels of parenting stress and children's atypical hypothalamic-pituitary-adrenal axis functioning.
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Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Hidrocortisona/análisis , Madres/psicología , Responsabilidad Parental/psicología , Estrés Psicológico/fisiopatología , Adulto , Niño , Femenino , Humanos , Sistema Hipotálamo-Hipofisario/fisiopatología , Conducta Impulsiva , Masculino , Relaciones Madre-Hijo , Sistema Hipófiso-Suprarrenal/fisiopatología , Apoyo Social , Estrés Psicológico/psicologíaRESUMEN
OBJECTIVE: Pediatric obesity commonly co-exists with emotional and behavioral disorders, while disturbed cortisol concentrations have been reported in both obese and chronically stressed individuals with anxiety and/or depression. We investigated the prevalence of internalizing and externalizing problems, reported by both parents and children, in a clinical population of obese children (OC) compared to normal-weight children. We examined the role of cortisol as a potential mediator between obesity and such problems. DESIGN: We compared 110 obese with 31 normal-weight children. The Greek version of the child behavior checklist (CBCL) and the youth self-report (YSR) were used and salivary cortisol was determined serially five times a day. RESULTS: T-scores of internalizing problems (anxiety/depression, social withdrawal, somatic complains) reported by both children (49.3±12.3 vs. 43.2±9.1) and mothers (60.6±11.3 vs. 50.6±10.4) were significantly higher (p=0.03 and p<0.001, respectively) in the obese than in the lean children. Externalizing problems (delinquency, rule-breaking behaviors) reported only by mothers were significantly higher in the OC (57.2 ±10.5 vs. 48.2±13.3, p=0.003). The cortisol area under the curve (AUC) was significantly smaller (p=0.03) in the OC than in the controls; however, a cortisol correlation with internalizing/externalizing symptoms was not observed. CONCLUSIONS: There is a high prevalence of internalizing and externalizing problems in a clinical population of OC. A mediation effect of cortisol in the relation between internalizing/externalizing problems and obesity could not be supported.
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Conducta del Adolescente , Conducta Infantil , Hidrocortisona/metabolismo , Trastornos del Neurodesarrollo/epidemiología , Obesidad Infantil/epidemiología , Saliva/metabolismo , Adolescente , Desarrollo del Adolescente , Factores de Edad , Estudios de Casos y Controles , Lista de Verificación , Niño , Desarrollo Infantil , Estudios Transversales , Femenino , Grecia/epidemiología , Humanos , Masculino , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/metabolismo , Trastornos del Neurodesarrollo/psicología , Obesidad Infantil/diagnóstico , Obesidad Infantil/metabolismo , Obesidad Infantil/psicología , Prevalencia , Psicometría , Factores de Riesgo , Encuestas y Cuestionarios , Factores de TiempoRESUMEN
Clinical genetic studies confirm the broader autism phenotype (BAP) in some relatives of individuals with autism, but there are few standardized assessment measures. We developed three BAP measures (informant interview, self-report interview, and impression of interviewee observational scale) and describe the development strategy and findings from the interviews. International Molecular Genetic Study of Autism Consortium data were collected from families containing at least two individuals with autism. Comparison of the informant and self-report interviews was restricted to samples in which the interviews were undertaken by different researchers from that site (251 UK informants, 119 from the Netherlands). Researchers produced vignettes that were rated blind by others. Retest reliability was assessed in 45 participants. Agreement between live scoring and vignette ratings was very high. Retest stability for the interviews was high. Factor analysis indicated a first factor comprising social-communication items and rigidity (but not other repetitive domain items), and a second factor comprised mainly of reading and spelling impairments. Whole scale Cronbach's alphas were high for both interviews. The correlation between interviews for factor 1 was moderate (adult items 0.50; childhood items 0.43); Kappa values for between-interview agreement on individual items were mainly low. The correlations between individual items and total score were moderate. The inclusion of several factor 2 items lowered the overall Cronbach's alpha for the total set. Both interview measures showed good reliability and substantial stability over time, but the findings were better for factor 1 than factor 2. We recommend factor 1 scores be used for characterising the BAP.
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Trastorno Autístico/diagnóstico , Entrevista Psicológica/métodos , Entrevista Psicológica/normas , Adolescente , Adulto , Anciano , Niño , Preescolar , Análisis Factorial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Países Bajos , Reproducibilidad de los Resultados , Conducta Social , Reino Unido , Adulto JovenRESUMEN
Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this 'general ring syndrome' consists of growth failure without malformations, few or no minor anomalies, and mild to moderate mental retardation. We reconsidered the ring chromosome 2 case previously published by Côté et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.
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Cromosomas Humanos Par 2/genética , Trastornos del Crecimiento/genética , Deformidades Congénitas de la Mano/genética , Discapacidad Intelectual/genética , Cromosomas en Anillo , Adulto , Deleción Cromosómica , Hibridación Genómica Comparativa , Femenino , Estudios de Seguimiento , HumanosRESUMEN
BACKGROUND: There are very few studies reporting on the prevalence and the contribution of not previously diagnosed ADHD in the clinical picture of other psychiatric disorders. The aim of our study is to determine the prevalence and clinical correlates of comorbid attention deficit/hyperactivity disorder (ADHD) in adult psychiatric outpatients with depressive or anxiety disorders. METHODS: During a 6-month period, 114 outpatients with depressive or anxiety disorders were evaluated for ADHD diagnosis. Assessment included interviews with both patient and relatives/friends and the use of a daily diary. Moreover, the patients completed the self-report scales Beck Depression Inventory (BDI), Spielberger's Anxiety Inventory (STAI), and the Symptom Checklist-90-R Rating Scale (SCL-90-R). RESULTS: A total of 22 out of 114 patients (19.3%) received an ADHD diagnosis for the first time in their life. Comorbid ADHD compared to non ADHD patients scored significantly higher (p < 0.05) for depression (BDI), state and trait anxiety (STAI) and in the following SCL-90-R factors: Positive Symptoms Distressing Index, Positive Symptoms Index, Somatization, Obsessive Compulsive, Depression, Anxiety, and Hostility. CONCLUSIONS: ADHD might go unrecognized among psychiatric outpatients. Patients with depressive or anxiety disorder reporting more severe symptomatology should be carefully screened for possible comorbid adult ADHD.