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The present study evaluates the efficacy of behavioural therapy adapted for shift work disorder with a randomised control design in a healthcare population. Forty-three night shift workers (m. age: 34 years; 77% women) experiencing shift work disorder were randomised to either the behavioural therapy for shift work disorder (BT-SWD) or a waiting-list control group offered after the waiting period. Participants completed questionnaires on insomnia, sleepiness and mental health pre- and post-treatment, pre- and post-waiting, and at follow-up, and a sleep diary. As night shift workers alternate between sleeping during the day after their night shifts and transitioning to nighttime sleep on days off, insomnia severity and sleep variables were analysed for daytime and nighttime sleep. The BT-SWD involved sleep restriction therapy, stimulus control and fixed sleep periods in the dark. Statistical analyses were performed under intent-to-treat and per-protocol approaches. Repeated-measures two-way ANCOVA analysis, controlling for age, sex and pre-treatment daytime total sleep time, was performed with Bonferroni corrections, and between-group effect sizes computed. Fourteen participants dropped out after randomisation. Under the intent-to-treat analysis, BT-SWD participants had a significant greater decrease in daytime insomnia severity and an increase in daytime total sleep time at post-treatment than the control group, with large between-group effect sizes (-1.25 and 0.89). These corresponding results were also significant with large effect sizes under the per-protocol analysis. Sleepiness, anxiety and depression levels improved at post-treatment and maintained at follow-up when the BT-SWD treated controls were added to the BT-SWD group. The behavioural therapy for shift work disorder can be used to improve the sleep and mental health of healthcare night workers.
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PURPOSE: Electroconvulsive therapy (ECT) is effective for treating several psychiatric disorders. However, only a minority of patients are treated with ECT. It is of primary importance to characterize their profile for epidemiological purposes and to inform clinical practice. We aimed to characterize the longitudinal profile of psychopathology and services utilization of patients first treated with ECT. METHODS: We conducted a population-based comparative study using data from a national administrative database in Quebec. Patients who received a first ECT between 2002 and 2016 were compared to controls who were hospitalized in psychiatry but did not receive ECT. We performed descriptive analyses to compare psychiatric diagnoses, domains of psychopathology (internalizing, externalizing and thought/psychotic disorders), medical services and medication use in the 5 years prior to the ECT or hospitalization. RESULTS: 5 080 ECT patients were compared with 179 594 controls. Depressive, anxiety, bipolar and psychotic disorders were more frequent in the ECT group. 96.2% of ECT patients had been diagnosed with depression and 53.8% with a primary psychotic disorder. In the ECT group, 1.0% had been diagnosed exclusively with depression and 47.0% had disorders from that belong to all three domains of psychopathology. Having both internalizing and thought/psychotic disorders was associated with an increased likelihood of receiving ECT vs having internalizing disorders alone (unadjusted OR = 2.93; 95% CI = 2.63, 3.26). All indicators of mental health services utilization showed higher use among ECT patients. CONCLUSION: Our results provide robust evidence of complex longitudinal psychopathology and extensive services utilization among ECT patients.
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Trastorno Bipolar , Terapia Electroconvulsiva , Trastornos Psicóticos , Humanos , Trastorno Bipolar/terapia , Quebec/epidemiología , Utilización de Instalaciones y Servicios , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/terapiaRESUMEN
BACKGROUND: We have shown that electroretinograms can discriminate between patients with severe mental illness (SMI) and healthy controls in previous studies. We now intend to enhance the development and clinical utility of ERG as a biological tool to monitor the risk of SMI. METHODOLOGY: A sample of 301 SMI patients (bipolar disorder or schizophrenia) and 200 controls was first split into a training (N = 401) and testing dataset (N = 100). A logistic regression using ERG was modeled in the training data, while external validation and discriminative ability were assessed in the testing data. A decision curve analysis was used to test clinical usefulness. Moreover, the identification of thresholds of uncertainty based on the two-graph ROC and the interval of uncertainty was used to enhance prediction. RESULTS: The discriminative assessment of the ERG showed very high sensitivity (91%) and specificity (89%) after considering uncertainty levels. Furthermore, for prediction probabilities ranging from 0.14 to 0.95 in the testing data, the net benefit of using our ERG model to decide whether to intervene or not exceeded that of never or always intervening. CONCLUSION: The ERG predicted SMI risk with a high level of accuracy when uncertainty was accounted for. This study further supports the potential of ERG to become a useful clinical decision tool to decide the course of action for subjects at risk of SMI. However, further investigation is still needed in longitudinal studies to assess the external validity of the instrument.
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Trastorno Bipolar , Trastornos Mentales , Esquizofrenia , Humanos , Trastornos Mentales/diagnóstico , Monitoreo Fisiológico , Estudios LongitudinalesRESUMEN
OBJECTIVE: The goal of this study was to validate the French version of the Quality of Life in Bipolar Disorder (QoL.BD) scale, a condition-specific measure for bipolar disorder (BD). METHOD: The QoL.BD scale was translated into French in accordance with the recommendations for transcultural adaptation. It was administered to 125 participants with BD living in Quebec, Canada. Construct validity was evaluated through correlations with other measures of self-reported quality of life (QoL), functioning, and symptoms. Factorial structure was examined through an exploratory factor analysis. RESULTS: Internal reliability and test-retest reliability standards were met. Correlations in expected directions with other QoL, functioning, and depressive symptom scales supported convergent validity. The item loadings structure of the French QoL.BD largely replicated the original English version, with some modifications. CONCLUSION: The French version of the QoL.BD (full and brief) is comparable in its psychometric properties to the English version. It is a valid and sound measure for the evaluation of the QoL of French-speaking patients with BD.
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Trastorno Bipolar , Calidad de Vida , Comparación Transcultural , Humanos , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , TraduccionesRESUMEN
ABSTRACT: Depression is a major mental health disorder, and its pathophysiology is still largely unknown, as is the action mechanism of electroconvulsive therapy (ECT). Some evidence suggests that inflammation might play a role in depression, and several studies have attempted to demonstrate a link between ECT and cytokines. This systematic review used a qualitative analysis to assess the effect of ECT on inflammatory markers as it relates to the clinical response of depressive symptoms in major depressive disorders. The bibliographic search engines CINAHL, Embase, PsychInfo, and PubMed were used to identify articles published up to July 2020. Search terms related to depression, ECT, and inflammation were used. Descriptive statistical analyses were performed to relate changes in inflammatory markers to clinical response to ECT. Twenty-five studies were included in the analysis. No systematic increases or decreases were found in a given inflammatory marker over the ECT; however, we observed that tumor necrosis factor α and interleukin-6 (IL-6) were more often found to be decreased after ECT, whereas IL-8 and IL-10 were more often found to be increased after treatment. No trend in correlation was found between the degree of clinical improvement of depressive symptoms and the variation of any inflammatory markers, despite positive clinical response to ECT. Great heterogeneity with regard to methodology used and lack of power of the studies included in this review could explain the lack of systematic change and correlation found in this study. Future research conducted on this subject should take into account these methodological limitations to allow subsequent meta-analysis.
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Trastorno Depresivo Mayor , Terapia Electroconvulsiva , Biomarcadores , Citocinas , Depresión/terapia , Trastorno Depresivo Mayor/terapia , Terapia Electroconvulsiva/métodos , Humanos , Resultado del TratamientoRESUMEN
Recent studies have used results on SNP association with schizophrenia (SZ) and bipolar disorder (BD) to create polygenic risk scores (PRS) discriminating non-familial unrelated patients from controls. Little is known about the role of PRS in densely affected multigenerational families. We tested PRS differences between affected SZ and BD family members from their non-affected adult relatives (NAARs) in Eastern Quebec Kindreds and from controls. We examined 1227 subjects: from 17 SZ and BD kindreds, we studied 153 patients (57 SZ, 13 schizoaffective, and 83 BD) and 180 NAARs, and 894 unrelated controls from the Eastern Quebec population. PRS were derived from published case-control association studies of SZ and BD. We also constructed a combined SZ and BD PRS by using SNPs from both SZ and BD PRS. SZ patients had higher SZ PRS than controls (p = 0.0039, R2 = 0.027) and BD patients had higher BD PRS than controls (p = 0.013, R2 = 0.027). Differences between affected subjects and NAARs and controls were significant with both SZ and BD PRS. Moreover, a combined SZ-BD PRS was also significantly associated with SZ and BD when compared to NAARs (p = 0.0019, R2 = 0.010) and controls (p = 0.0025, R2 = 0.028), revealing a SZ-BD commonality effect in PRS at the diagnosis level. The SZ and the BD PRS, however, showed a degree of specificity regarding thought disorder symptoms. Overall, our report would confirm the usefulness of PRS in capturing the contribution of common genetic variants to the risk of SZ and BD in densely affected families.
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Trastorno Bipolar/genética , Esquizofrenia/genética , Adulto , Trastorno Bipolar/psicología , Estudios de Casos y Controles , Familia , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Herencia Multifactorial/genética , Polimorfismo de Nucleótido Simple/genética , Quebec , Factores de Riesgo , Psicología del EsquizofrénicoRESUMEN
Background and Introduction: Telerehabilitation after total knee arthroplasty (TKA) is supported by strong evidence on the effectiveness of such intervention and from a cost-benefit point of view. Satisfaction of patients toward in-home telerehabilitation after TKA has not yet been examined thoroughly in large-scale clinical trials. This study aims to compare satisfaction level of patients following in-home telerehabilitation (TELE) after TKA to one of the patients following a usual face-to-face home visit (STD) rehabilitation. Secondarily, to determine if any clinical or personal variables were associated to the level of satisfaction. MATERIALS AND METHODS: This study was embedded in a multicenter randomized controlled trial with 205 patients randomized into two groups. Rehabilitation intervention was the same for both groups; only approach for service delivery differed (telerehabilitation or home visits). Participants were assessed at baseline (before TKA), at hospital discharge, and at 2 and 4 months postdischarge (E4) using functional outcomes. Patient satisfaction was measured using the validated Health Care Satisfaction Questionnaire (HCSQ) at E4. RESULTS: Characteristics of all participants were similar at baseline. Satisfaction level of both groups did not differ and was very high (over 85%). It was neither correlated to personal characteristics nor to improvements of functional level from preoperative to E4. Satisfaction was rather found associated to walking and stair-climbing performances. CONCLUSIONS: These results, in conjunction with evidences of clinical effectiveness and cost benefits demonstrated in the same sample of patients, strongly support the use of telerehabilitation to improve access to rehabilitation services and efficiency of service delivery after TKA.
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Artroplastia de Reemplazo de Rodilla/rehabilitación , Terapia por Ejercicio/métodos , Satisfacción del Paciente , Telerrehabilitación/métodos , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Relaciones Profesional-Paciente , Método Simple Ciego , Resultado del TratamientoRESUMEN
BACKGROUND: Audio/video-mediated communication between patients and clinicians using videoconferencing over telecommunication networks is a key component of providing teletreatments in rehabilitation. OBJECTIVE: The objectives of this study were to (1) document the conditions of use, performance, and reliability of videoconferencing-based communication in the context of in-home teletreatment (TELE) following total knee arthroplasty (TKA) and (2) assess from the perspective of the providers, the quality attributes of the technology used and its impact on clinical objectives. MATERIALS AND METHODS: Descriptive embedded study in a randomized controlled trial using a sample of 97 post-TKA patients, who received a total of 1,431 TELE sessions. Technical support use, service delivery reliability, performance, and use of network connection were assessed using self-report data from a costing grid and automated logs captured from videoconferencing systems. Physical therapists assessed the quality and impact of video-mediated communications after each TELE session on seven attributes. RESULTS: Installation of a new Internet connection was required in 75% of the participants and average technician's time to install test and uninstall technology (including travel time) was 308.4 min. The reliability of service delivery was 96.5% of planned sessions with 21% of TELE session requiring a reconnection during the session. Remote technical support was solicited in 43% of the sessions (interventions were less than 3-min duration). Perceived technological impacts on video-mediated communications were minimal with quality of the overall technical environment evaluated as good or acceptable in 96% of the sessions and clinical objectives reached almost completely or completely in 99% of the sessions. CONCLUSIONS: In-home rehabilitation teletreatments can be delivered reliably but requires access to technical support for the initial setup and maintenance. Optimization of the processes of reliably connecting patients to the Internet, getting the telerehabilitation platform in the patient's home, installing, configuring, and testing will be needed to generalize this approach of service delivery.
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Artroplastia de Reemplazo de Rodilla/rehabilitación , Telerrehabilitación/organización & administración , Comunicación por Videoconferencia/organización & administración , Anciano , Femenino , Humanos , Internet/normas , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Factores Socioeconómicos , Telerrehabilitación/normas , Comunicación por Videoconferencia/normasRESUMEN
BACKGROUND: Millions of children are born to parents affected by major psychoses. Cognitive dysfunctions seen in patients are already detectable in these children. In parallel, childhood maltreatment increases the risk of adult psychoses through unknown mechanisms. We investigated whether high-risk offspring exposed to abuse/neglect displayed more cognitive precursors of adult psychoses in childhood and adolescence than nonexposed offspring. METHODS: We used a stepwise selection strategy from a 25-year follow-up of 48 densely affected kindreds including 1500 adults (405 patients with schizophrenia or bipolar disorder) to select high-risk offspring aged 6-22 years for inclusion in our study. All offspring were assessed for childhood trauma from direct interviews with the offspring, parents and relatives and from the review of lifetime medical records of parents and children and administered a neuropsychological battery including IQ and 4 of the most impaired neuropsychological domains in psychoses. RESULTS: Our study included 66 high-risk offspring. Those who were exposed to abuse/neglect had significantly lower IQ (effect size [ES] = 0.61) than nonexposed offspring and displayed poorer cognitive performance in visual episodic memory (ES = 0.67) and in executive functions of initiation (ES = 1.01). Moreover, exposed offspring presented more combinations of cognitive deficits that were associated with lower Global Assessment of Functioning scores. LIMITATIONS: Exposure to abuse/neglect was not assessed in the control group, thus the study could not test whether the effect of childhood maltreatment occurred only in a high-risk setting and not in the general population. CONCLUSION: In high-risk youths, maltreatment in childhood/adolescence may negatively impact cognitive domains known to be impaired in adults with psychoses, suggesting an early mediating effect in the association between abuse/neglect and adult psychoses. This finding provides a target for future developmental and preventive research.
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Trastorno Bipolar/diagnóstico , Maltrato a los Niños , Trastornos del Conocimiento/etiología , Cognición , Memoria , Esquizofrenia/diagnóstico , Adolescente , Adulto , Trastorno Bipolar/fisiopatología , Niño , Maltrato a los Niños/prevención & control , Femenino , Estudios de Seguimiento , Humanos , Masculino , Pruebas Neuropsicológicas , Padres , Riesgo , Esquizofrenia/fisiopatología , Escalas de Wechsler , Adulto JovenRESUMEN
BACKGROUND: Rehabilitation provided through home visits is part of the continuum of care after discharge from hospital following total knee arthroplasty (TKA). As demands for rehabilitation at home are growing and becoming more difficult to meet, in-home telerehabilitation has been proposed as an alternate service delivery method. However, there is a need for robust data concerning both the effectiveness and the cost of dispensing in-home telerehabilitation. OBJECTIVE: The objective of this study was to document, analyze, and compare real costs of two service delivery methods: in-home telerehabilitation and conventional home visits. METHODS: The economic analysis was conducted as part of a multicenter randomized controlled trial (RCT) on telerehabilitation for TKA, and involved data from 197 patients, post-TKA. Twice a week for 8 weeks, participants received supervised physiotherapy via two delivery methods, depending on their study group allocation: in-home telerehabilitation (TELE) and home-visit rehabilitation (VISIT). Patients were recruited from eight hospitals in the province of Quebec, Canada. The TELE group intervention was delivered by videoconferencing over high-speed Internet. The VISIT group received the same intervention at home. Costs related to the delivery of the two services (TELE and VISIT) were calculated. Student's t tests were used to compare costs per treatment between the two groups. To take distance into account, the two treatment groups were compared within distance strata using two-way analyses of variance (ANOVAs). RESULTS: The mean cost of a single session was Can $93.08 for the VISIT group (SD $35.70) and $80.99 for the TELE group (SD $26.60). When comparing both groups, real total cost analysis showed a cost differential in favor of the TELE group (TELE minus VISIT: -$263, 95% CI -$382 to -$143). However, when the patient's home was located less than 30 km round-trip from the health care center, the difference in costs between TELE and VISIT treatments was not significant (P=.25, .26, and .11 for the <10, 10-19, and 20-29 km strata, respectively). The cost of TELE treatments was lower than VISIT treatments when the distance was 30 km or more (30-49 km: $81<$103, P=.002; ≥50 km: $90<$152, P<.001). CONCLUSIONS: To our knowledge, this is the first study of the actual costs of in-home telerehabilitation covering all subcosts of telerehabilitation and distance between the health care center and the patient's home. The cost for a single session of in-home telerehabilitation compared to conventional home-visit rehabilitation was lower or about the same, depending on the distance between the patient's home and health care center. Under the controlled conditions of an RCT, a favorable cost differential was observed when the patient was more than 30 km from the provider. Stakeholders and program planners can use these data to guide decisions regarding introducing telerehabilitation as a new service in their clinic. TRIAL REGISTRATION: International Standard Registered Clinical Study Number (ISRCTN): 66285945; http://www.isrctn.com/ISRCTN66285945 (Archived by WebCite at http://www.webcitation.org/6WlT2nuX4).
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Artroplastia de Reemplazo de Rodilla/economía , Artroplastia de Reemplazo de Rodilla/rehabilitación , Telemedicina/economía , Telemedicina/métodos , Anciano , Costos y Análisis de Costo , Femenino , Humanos , Internet/economía , Masculino , Persona de Mediana EdadRESUMEN
It is well established that adversities and GRIN2B (coding an N-methyl-D-aspartate receptor subunit) are independently associated with behavioral and cognitive impairments in childhood. However, a high proportion of children exposed to adversities have good, long-term outcomes. We hypothesized that among children exposed to adversities, GRIN2B variants would predict the worst cognitive and behavioral outcomes. 6 single nucleotide polymorphisms of GRIN2B were genotyped in 625 children aged 6-11 years from an Italian community-based sample. The interacting effect of GRIN2B variants with 4 measures of adversities [low socioeconomic status (SES), preterm delivery, maternal smoking during pregnancy, and absence of breastfeeding] was investigated upon blindly assessed cognitive abilities (vocabulary, block design, digit spans of Wechsler's Intelligence Scale, and Rey complex figure) and parents-rated behavioral problems (Child Behavior Checklist/6-18). Rs2268119 × SES interaction (Hotelling's Trace = 0.07; F(12,1154) = 3.53; p = 0.00004) influenced behavior, with more attention problems among children in the 'either A/T or T/T genotype and low SES' group, compared to all other groups. This interaction effect was not significant in an independent, replication sample of 475 subjects from an Italian community-based sample. GRIN2B variants predict children with the worst outcome in attention functioning among children exposed to low SES. Our findings, if replicated, could help in the identification of children with the highest risk and may prompt cost-effective preventive/treatment strategies.
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Trastorno por Déficit de Atención con Hiperactividad/etiología , Trastorno por Déficit de Atención con Hiperactividad/genética , Interacción Gen-Ambiente , Receptores de N-Metil-D-Aspartato/genética , Clase Social , Poblaciones Vulnerables/estadística & datos numéricos , Niño , Femenino , Humanos , Italia , Masculino , Polimorfismo de Nucleótido SimpleRESUMEN
Cognitive impairments are central to schizophrenia, but their clinical utility for tagging heterogeneity in lifetime outcome and response to treatment is not conclusive. By exploiting four cognitive domains consistently showing large deficits in studies, we tested whether cluster analysis would define separate subsets of patients and then whether the disease heterogeneity marked by these clusters would be related to lifetime outcome and response to treatment. A total of 112 schizophrenia patients completed a neuropsychological evaluation. The PANSS, GAF-S and GAF-F were rated at the onset and endpoint of the illness trajectory. A blind judgment of the lifetime response to treatment was made. The first cluster presented near-normal cognitive performance. Two other clusters of severely impaired patients were identified: one generally impaired in the four cognitive domains and another selectively impaired in visual episodic memory and processing speed, each relating to a different lifetime evolution of disease and treatment response. Although the two impaired clusters were clinically indistinguishable in symptom severity and functioning at disease onset, patients with selective cognitive impairments demonstrated better improvement at outcome, whereas the generally impaired patients were more likely to be treatment refractory. The findings have implications for the management of patients and for clinical trials since particular combinations of cognitive deficits in patients would influence their treatment response.
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Antipsicóticos/uso terapéutico , Análisis por Conglomerados , Trastornos del Conocimiento/tratamiento farmacológico , Trastornos del Conocimiento/etiología , Esquizofrenia/complicaciones , Adulto , Atención , Función Ejecutiva , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Escalas de Valoración Psiquiátrica , Desempeño Psicomotor , Esquizofrenia/tratamiento farmacológico , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVE: To increase power to detect modifier loci conferring susceptibility to specific phenotypes such as disease diagnoses which are part of a broader disorder spectrum by jointly modeling a modifier and a broad susceptibility gene and to identify modifier loci conferring specific susceptibility to schizophrenia (SZ) or to bipolar disorder (BP) using the approach. METHODS: We implemented a two-locus linkage analysis model where a gene 1 genotype increases the risk of a broad phenotype and a gene 2 genotype modifies the expression of gene 1 by conferring susceptibility to a specific phenotype. RESULTS: Compared to a single-locus analysis within the broad phenotype, the proposed approach had greater power to detect the modifier gene 2 (0.96 vs. 0.54 under a simulation scenario including heterogeneity). In a sample of 12 mixed SZ and BP Eastern Quebec kindreds, D8S1110 at 8p22 showed the strongest evidence of linkage to a gene determining a specific phenotype (SZ or BP) among subjects susceptible to major psychosis because of putative genes at 10p13 (D10S245, conditional maximized LOD (cMOD) = 4.20, p = 0.0003) and 3q21-q23 (D3S2418, cMOD = 4.09, p = 0.0005). CONCLUSION: The proposed strategy is useful to detect modifier loci conferring susceptibility to a specific phenotype within a broader phenotype.
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Trastorno Bipolar/genética , Genes Modificadores , Ligamiento Genético , Fenotipo , Trastornos Psicóticos/genética , Esquizofrenia/genética , Alelos , Biología Computacional/métodos , Simulación por Computador , Frecuencia de los Genes , Sitios Genéticos , Marcadores Genéticos , Predisposición Genética a la Enfermedad/genética , Humanos , Escala de Lod , Modelos Genéticos , Linaje , PenetranciaRESUMEN
BACKGROUND: Neglected children are at high risk for significant difficulties in speech and language development. Because no longitudinal study has been conducted to date, the dynamic description of development during the preschool period is unknown. OBJECTIVES: Establish the developmental trajectories of speech sounds, receptive and expressive vocabulary, and morphosyntax among neglected children during the preschool years and compare them with those of non-neglected children. PARTICIPANTS AND SETTING: Participants are 69 neglected children and 99 same age non-neglected peers (37 and 46 males respectively) recruited at 36 months of age. Data were collected at home. METHODS: Data were collected at six-month intervals between the ages of 3 and 5.5 years using psychometrically robust tools. Neglected and control groups were compared according to age using repeated measures ANOVAs on all variables. A discrete mixture model for clustering longitudinal data was used for testing the heterogeneity of the language trajectories among neglected children. RESULTS: The language development of the neglected children as a whole group is lower than that of the control group for all variables. Two subgroups are identified within the neglected group: one with a developmental trajectory similar to that of the non-neglected children, and another whose trajectory is far below that of the control group. The effect sizes of these differences vary between 1.4 and 3 standard deviations under the mean. CONCLUSIONS: A large proportion of neglected children present significant speech and language difficulties from the age of 3, but some of them catch up and develop similarly to non-neglected children.
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Trastornos del Desarrollo del Lenguaje , Habla , Masculino , Humanos , Preescolar , Niño , Trastornos del Desarrollo del Lenguaje/epidemiología , Trastornos del Desarrollo del Lenguaje/etiología , Lenguaje , Desarrollo del Lenguaje , Estudios LongitudinalesRESUMEN
BACKGROUND: The retina is recognized as an accessible part of the brain due to their common embryonic origin. The electroretinogram (ERG) has proven to be a valuable tool for detecting schizophrenia and bipolarity. We therefore investigated its ability to detect ADHD. METHODS: The cone and rod luminance response functions of the ERG were recorded in 26 ADHD subjects (17 women and 9 men) and 25 controls (16 women and 9 men). RESULTS: No significant differences were found between the mixed groups, but sexual dysmorphia was observed in the significant results. In males, a significant prolonged cone a-wave latency was observed in the ADHD group. In females, we observed a significant decrease in the cone a- and b-wave amplitudes and a trend for a prolonged cone b-wave latency as well as a higher scotopic mixed rod-cone a-wave in the ADHD group. CONCLUSION: The data obtained in this study show the potential of the ERG to detect ADHD, warranting further large-scale studies.
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Trastorno por Déficit de Atención con Hiperactividad , Electrorretinografía , Masculino , Humanos , Femenino , Electrorretinografía/métodos , Retina/fisiología , Visión Ocular , Biomarcadores , Estimulación Luminosa/métodos , Regulador Transcripcional ERGRESUMEN
Clinical diagnoses of complex diseases may often encompass multiple genetically heterogeneous disorders. One way of dissecting this heterogeneity is to apply latent class (LC) analysis to measurements related to the diagnosis, such as detailed symptoms, to define more homogeneous disease sub-types, influenced by a smaller number of genes that will thus be more easily detectable. We have previously developed a LC model allowing dependence between the latent disease class status of relatives within families. We have also proposed a strategy to incorporate the posterior probability of class membership of each subject in parametric linkage analysis, which is not directly transferable to genetic association methods. Under the framework of family-based association tests (FBAT), we now propose to make the contribution of an affected subject to the FBAT statistic proportional to his or her posterior class membership probability. Simulations showed a modest but robust power advantage compared to simply assigning each subject to his or her most probable class, and important power gains over the analysis of the disease diagnosis without LC modeling under certain scenarios. The use of LC analysis with FBAT is illustrated using autism spectrum disorder (ASD) symptoms on families from the Autism Genetics Research Exchange, where we examined eight regions previously associated to autism in this sample. The analysis using the posterior probability of membership to an LC detected an association in the JARID2 gene as significant as that for ASD (P = 3 × 10(-5)) but with a larger effect size (odds ratio = 2.17 vs. 1.55).
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Estudio de Asociación del Genoma Completo/estadística & datos numéricos , Modelos Genéticos , Niño , Trastornos Generalizados del Desarrollo Infantil/genética , Bases de Datos Genéticas , Enfermedad/genética , Familia , Femenino , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Modelos Estadísticos , Epidemiología Molecular/estadística & datos numéricos , ProbabilidadRESUMEN
OBJECTIVE: Delirium is a highly prevalent and deleterious disorder in terminally ill cancer patients. We assessed whether a multicomponent preventive intervention was effective in decreasing delirium incidence and severity among cancer patients receiving end-of-life care. METHODS: A cohort of 1516 patients was followed from admission to death at seven Canadian palliative care centers. In two of these centers, routine care included a delirium preventive intervention targeting physicians (written notice on selective delirium risk factors and inquest on intended medication changes), patients, and their family (orientation to time and place, information about early delirium symptoms). Delirium frequency and severity were compared between patients at the intervention (N = 674) and usual-care (N = 842) centers based on thrice-daily symptom assessments with the Confusion Rating Scale. RESULTS: The overall rate of adherence to the intervention was 89.7%. The incidence of delirium was 49.1% in the intervention group, compared with 43.9% in the usual-care group (odds ratio [OR] 1.23, P = 0.045). When confounding variables were controlled for, no difference was observed between the intervention and the usual-care groups in delirium incidence (OR 0.94, P = 0.66), delirium severity (1.83 vs. 1.92; P = 0.07), total days in delirium (4.57 vs. 3.57 days; P = 0.63), or duration of first delirium episode (2.9 vs. 2.1 days; P = 0.96). Delirium-free survival was similar in the two groups. CONCLUSION: A simple multicomponent preventive intervention was ineffective in reducing delirium incidence or severity among cancer patients receiving end-of-life care. Delirium prevention remains a difficult challenge in terminally ill cancer patients.
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Delirio/prevención & control , Neoplasias/psicología , Cuidado Terminal , Enfermo Terminal/psicología , Anciano , Anciano de 80 o más Años , Canadá/epidemiología , Delirio/epidemiología , Delirio/etiología , Femenino , Humanos , Incidencia , Tiempo de Internación , Masculino , Persona de Mediana Edad , Neoplasias/complicaciones , Cuidados Paliativos , Grupo de Atención al Paciente , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
We previously proposed the electroretinogram (ERG) as a promising biomarker of major psychiatric disorders such as schizophrenia (SZ) and bipolar disorder (BP), given that we found anomalies in the ERG parameters of patients with these diagnoses as well as in their children who are at high risk (HR) of developing such disorders. The aim of the present study is to investigate the usefulness of the ERG for individual detection, among HR children, of an ERG profile resembling that of a SZ patient, as this may indicate a stronger likelihood of transition to psychosis. Using a logistic regression model previously derived from the ERG assessments of SZ patients and control (CT) subjects, individual risk scores were obtained for 61 HR and 80 CT youth. Those with a very high individual risk score were classified as "schizophrenia-like" (SZ-like). We found that the HR subjects were 3.5 times more likely to be classified as SZ-like than the CT subjects (95% CI [1.1-11.8]). Furthermore, among the HR subjects, we studied the relationship between the SZ-like classification and psychotic-like experiences and found that HR subjects classified as SZ-like were 2.7 times more likely than all remaining HR subjects to have experienced psychotic-like symptoms (95% CI [1.3-4.6]), and 6.8 times more likely than those with a very low individual risk score (95% CI [1.4-40.4]). Our results suggest that a model previously derived from ERG data on SZ patients could be a potential tool for early detection of the susceptibility to a psychotic-like disorder among familial HR children.
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INTRODUCTION: The COVID-19 pandemic and associated restrictive measures have caused important disruptions in economies and labour markets, changed the way we work and socialise, forced schools to close and healthcare and social services to reorganise. This unprecedented crisis forces individuals to make considerable efforts to adapt and will have psychological and social consequences, mainly on vulnerable individuals, that will remain once the pandemic is contained and will most likely exacerbate existing social and gender health inequalities. This crisis also puts a toll on the capacity of our healthcare and social services structures to provide timely and adequate care. The MAVIPAN (Ma vie et la pandémie/ My Life and the Pandemic) study aims to document how individuals, families, healthcare workers and health organisations are affected by the pandemic and how they adapt. METHODS AND ANALYSIS: MAVIPAN is a 5-year longitudinal prospective cohort study launched in April 2020 across the province of Quebec (Canada). Quantitative data will be collected through online questionnaires (4-6 times/year) according to the evolution of the pandemic. Qualitative data will be collected with individual and group interviews and will seek to deepen our understanding of coping strategies. Analysis will be conducted under a mixed-method umbrella, with both sequential and simultaneous analyses of quantitative and qualitative data. ETHICS AND DISSEMINATION: MAVIPAN aims to support the healthcare and social services system response by providing high-quality, real-time information needed to identify those who are most affected by the pandemic and by guiding public health authorities' decision making regarding intervention and resource allocation to mitigate these impacts. MAVIPAN was approved by the Ethics Committees of the Primary Care and Population Health Research Sector of CIUSSS de la Capitale-Nationale (Committee of record) and of the additional participating institutions. TRIAL REGISTRATION NUMBER: NCT04575571.
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COVID-19 , Pandemias , COVID-19/epidemiología , Salud Global , Humanos , Estudios Prospectivos , Salud PúblicaRESUMEN
In recent years, gene expression, genetic association, and metabolic studies have implicated the polyamine system in psychiatric conditions, including suicide. Given the extensive regulation of genes involved in polyamine metabolism, as well as their interconnections with the metabolism of other amino acids, we were interested in further investigating the expression of polyamine-related genes across the brain in order to obtain a more comprehensive view of the dysregulation of this system in suicide. To this end, we examined the expression of genes related to polyamine metabolism across 22 brain regions in a sample of 29 mood-disordered suicide completers and 16 controls, and identified 14 genes displaying differential expression. Among these, altered expression of spermidine/spermine N1-acetyltransferase, spermine oxidase, and spermine synthase, has previously been observed in brains of suicide completers, while the remainder of the genes represent novel findings. In addition to genes with direct involvement in polyamine metabolism, including S-adenosylmethionine decarboxylase, ornithine decarboxylase antizymes 1 and 2, and arginase II, we identified altered expression of several more distally related genes, including aldehyde dehydrogenase 3 family, member A2, brain creatine kinase, mitochondrial creatine kinase 1, glycine amidinotransferase, glutamic-oxaloacetic transaminase 1, and arginyl-tRNA synthetase-like. Many of these genes displayed altered expression across several brain regions, strongly implying that dysregulated polyamine metabolism is a widespread phenomenon in the brains of suicide completers. This study provides a broader view of the nature and extent of the dysregulation of the polyamine system in suicide, and highlights the importance of this system in the neurobiology of suicide.