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1.
Ultrasound ; 31(3): 186-194, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37538968

RESUMO

Introduction: A lack of patient safety research hampers capacity to improve safety in healthcare.Ultrasound is often considered 'safe' as it does not use ionising radiation, a simplistic view of patient safety. Understanding sonographers' actions towards patient safety is crucial; however, self-reported measures cannot always predict behaviour. This study is part of a PhD exploring patient safety in medical diagnostic ultrasound. The aim of this paper is to explore sonographers' responses to the patient safety concerns identified in Part one of this study. The ultimate aim of the study is to inform the final phase of the doctoral study which will consider the next steps in improving the quality and safety of healthcare experienced by patients. Methods: A qualitative study using semi-structured, one-on-one interviews. The Theory of Planned Behaviour (TPB) explained how sonographers respond to perceived patient safety risks in practice. Results: Thirty-one sonographers were interviewed. Based on the seven themes identified in Part one of the study, results showed that incongruences exist between identifying patient safety risks and the actions taken in practice to manage these risks. Conclusion: The TPB showed that behavioural, normative and control beliefs impact sonographers' responses to perceived patient safety risks in practice and can lead to risk avoidance. Lack of regulation in ultrasound creates a challenge in dealing with Fitness to Practice issues. Collective actions are required to support sonographers in taking appropriate actions to enhance patient safety from multiple stakeholders including accreditation bodies, regulatory authorities, educational institutions and employers.

2.
Clin Nutr ; 42(8): 1510-1520, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37330324

RESUMO

BACKGROUND & AIMS: Low-intake dehydration amongst older people, caused by insufficient fluid intake, is associated with mortality, multiple long-term health conditions and hospitalisation. The prevalence of low-intake dehydration in older adults, and which groups are most at-risk, is unclear. We conducted a high-quality systematic review and meta-analysis, implementing an innovative methodology, to establish the prevalence of low-intake dehydration in older people (PROSPERO registration: CRD42021241252). METHOD: We systematically searched Medline (Ovid), Cochrane CENTRAL, Embase (Ovid), CINAHL and Proquest from inception until April 2023 and Nutrition and Food Sciences until March 2021. We included studies that assessed hydration status for non-hospitalised participants aged ≥65 years, by directly-measured serum/plasma osmolality, calculated serum/plasma osmolarity and/or 24-h oral fluid intake. Inclusion, data extraction and risk of bias assessment was carried out independently in duplicate. RESULTS: From 11,077 titles and abstracts, we included 61 (22,398 participants), including 44 in quality-effects meta-analysis. Meta-analysis suggested that 24% (95% CI: 0.07, 0.46) of older people were dehydrated (assessed using directly-measured osmolality >300 mOsm/kg, the most reliable measure). Subgroup analyses indicated that both long-term care residents (34%, 95% CI: 0.09, 0.61) and community-dwelling older adults (19%, 95% CI: 0.00, 0.48) were highly likely to be dehydrated. Those with more pre-existing illnesses (37%, 95% CI: 0.14, 0.62) had higher low-intake dehydration prevalence than others (15%, 95% CI: 0.00, 0.43), and there was a non-significant suggestion that those with renal impairment (42%, 95% CI: 0.23, 0.61) were more likely to be dehydrated than others (23%, 95% CI: 0.03, 0.47), but there were no clear differences in prevalence by age, sex, functional, cognitive or diabetic status. GRADE quality of evidence was low as to the exact prevalence due to high levels of heterogeneity between studies. CONCLUSION: Quality-effects meta-analysis estimated that a quarter of non-hospitalised older people were dehydrated. Widely varying prevalence rates in individual studies, from both long-term care and community groups, highlight that dehydration is preventable amongst older people. IMPLICATIONS: One in every 4 older adults has low-intake dehydration. As dehydration is serious and prevalent, research is needed to better understand drinking behaviour and assess effectiveness of drinking interventions for older people.


Assuntos
Desidratação , Assistência de Longa Duração , Humanos , Idoso , Desidratação/epidemiologia , Prevalência , Estado Nutricional , Hospitalização
3.
Ultrasound ; 31(2): 127-138, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37144224

RESUMO

Introduction: Patient safety has been an undervalued component of quality healthcare but is a challenging area of research.Ultrasound is the most common imaging modality in the world. Research on patient safety in ultrasound is generally focused on bioeffects and safe operation of ultrasound equipment. However, other safety issues exist in practice that warrant consideration.This paper forms the first part of a PhD study exploring patient safety in medical diagnostic ultrasound, beyond the notion of bioeffects.The ultimate aim of the study is to inform the final phase of the research study which will consider the next steps in improving the quality and safety of healthcare experienced by patients. Methods: A qualitative study using semi-structured, one-on-one interviews. A thematic analysis categorised data into codes and generated final themes. Results: A heterogeneous mix of 31 sonographers, who reflected the profile of the profession in Australia, were interviewed between September 2019 and January 2020. Seven themes emerged from the analysis. These were bioeffects, physical safety, workload, reporting, professionalism, intimate examinations and infection control. Conclusion: This study presents a comprehensive analysis of sonographers' perceptions of patient safety in ultrasound imaging, not previously available in the literature. Consistent with the literature, patient safety in ultrasound tends to be viewed in technical terms through the potential for bioeffects of tissue damage or physical harm to the patient. However, other patient safety issues have emerged, and while not as well recognised, have the potential to negatively impact on patient safety.

4.
J Med Radiat Sci ; 69(3): 309-317, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35475599

RESUMO

INTRODUCTION: Interprofessional education (IPE) is implemented throughout the curricula of student healthcare professions as it is understood to provide positive impact on patient outcomes in the clinical environment. There are different methods to provide IPE such as through online learning or traditional face-to-face methods. However, there is a lack of research surrounding the use of Online Learning Environments (OLEs) to teach IPE. METHODS: In a pilot study, seventy-one undergraduate radiography students and twenty Master of Pharmacy students engaged in an ethical scenario using the OLE, Values Exchange (Vx). Following the activity, students were invited to complete an open-ended response question. Fourteen students responded and these data were used for qualitative analysis. RESULTS: A thematic analysis of the students' open-ended responses found the emergence of three major themes, namely; understanding the roles of other healthcare professionals, developing self-reflection skills and, preparing for the clinical environment. Students suggested that additional time allocated for undertaking the study would benefit their engagement in the activity. Students would benefit from added engagement in the Vx task in both the short and long term for IPE. CONCLUSION: Students are receptive in utilising contemporary approaches such as OLEs in furthering their IPE. Positive interpretations and suggestions by both radiography and pharmacy students in this study demonstrate how Vx as an OLE teaching tool can be used effectively. OLEs can overcome barriers that exist in face-to-face education experiences. OLEs should be considered for greater use within academic curricula of healthcare professions, but only if they have been evaluated for effectiveness.


Assuntos
Educação a Distância , Estudantes de Ciências da Saúde , Humanos , Educação Interprofissional , Relações Interprofissionais , Projetos Piloto
5.
Sci Rep ; 10(1): 20488, 2020 11 24.
Artigo em Inglês | MEDLINE | ID: mdl-33235210

RESUMO

Recent stroke studies have shown that the ipsi-lesional thalamus longitudinally and significantly decreases after stroke in the acute and subacute stages. However, additional considerations in the chronic stages of stroke require exploration including time since stroke, gender, intracortical volume, aging, and lesion volume to better characterize thalamic differences after cortical infarct. This cross-sectional retrospective study quantified the ipsilesional and contralesional thalamus volume from 69 chronic stroke subjects' anatomical MRI data (age 35-92) and related the thalamus volume to time since stroke, gender, intracortical volume, age, and lesion volume. The ipsi-lesional thalamus volume was significantly smaller than the contra-lesional thalamus volume (t(68) = 13.89, p < 0.0001). In the ipsilesional thalamus, significant effect for intracortical volume (t(68) = 2.76, p = 0.008), age (t(68) = 2.47, p = 0.02), lesion volume (t(68) = - 3.54, p = 0.0008), and age*time since stroke (t(68) = 2.46, p = 0.02) were identified. In the contralesional thalamus, significant effect for intracortical volume (t(68) = 3.2, p = 0.002) and age (t = - 3.17, p = 0.002) were identified. Clinical factors age and intracortical volume influence both ipsi- and contralesional thalamus volume and lesion volume influences the ipsilesional thalamus. Due to the cross-sectional nature of this study, additional research is warranted to understand differences in the neural circuitry and subsequent influence on volumetrics after stroke.


Assuntos
Acidente Vascular Cerebral/patologia , Tálamo/patologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Biológicos , Tamanho do Órgão , Projetos Piloto , Acidente Vascular Cerebral/diagnóstico por imagem , Tálamo/diagnóstico por imagem , Fatores de Tempo
6.
Front Neurosci ; 14: 336, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32425745

RESUMO

Blood Oxygen Level Dependent (BOLD) functional MRI is a complex neurovascular signal whose magnitude depends on baseline physiological factors such as cerebral blood flow (CBF). Because baseline CBF varies across the brain and is altered with aging, the interpretation of stand-alone aging-related BOLD changes can be misleading. The primary objective of this study was to develop a methodology that combines task fMRI and arterial spin labeling (ASL) techniques to sensitize task-induced BOLD activity by covarying out the baseline physiology (i.e., CBF) in an aging model. We recruited 11 younger and 13 older healthy participants who underwent ASL and an overt language fMRI task (semantic category member generation). We measured in-scanner language performance to investigate the effect of BOLD sensitization on BOLD-behavior relationships. The results demonstrate that our correction approach is effective at enhancing the specificity and sensitivity of the BOLD signal in both groups. In addition, the correction strengthens the statistical association between task BOLD activity and behavioral performance. Although CBF has inherent age dependence, our results show that retaining the age factor within CBF aides in greater sensitization of task fMRI signals. From a cognitive standpoint, compared to young adults, the older participants showed a delayed domain-general language-related task activity possibly due to compromised vessel compliance. Further, assessment of functional evolution of corrected BOLD activity revealed biphasic BOLD dynamics in both groups where BOLD deactivation may reflect greater semantic demand or increased premium on domain general executive functioning in response to task difficulty. Although it was promising to note that the predictability of behavior using the proposed methodology outperforms other methodologies (i.e., no correction and normalization by division), and provides moderate stability and adequate power, further work with a larger cohort and other task designs is necessary to improve the stability of predicting associated behavior. In summary, we recommend correction of task fMRI signals by covarying out baseline CBF especially when comparing groups with different neurovascular properties. Given that ASL and BOLD fMRI are well established and widely employed techniques, our proposed multi-modal methodology can be readily implemented into data processing pipelines to obtain more accurate BOLD activation maps.

7.
J Int Neuropsychol Soc ; 26(10): 939-953, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32342828

RESUMO

OBJECTIVE: Right cerebellar-left frontal (RC-LF) white matter integrity (WMI) has been associated with working memory. However, prior studies have employed measures of working memory that include processing speed and attention. We examined the relationships between the RC-LF WMI and processing speed, attention, and working memory to clarify the relationship of RC-LF WMI with a specific cognitive function. Right superior longitudinal fasciculus II (SLF II) WMI and visual attention were included as a negative control tract and task to demonstrate a double dissociation. METHODS: Adult survivors of childhood brain tumors [n = 29, age: M = 22 years (SD = 5), 45% female] and demographically matched controls were recruited (n = 29). Tests of auditory attention span, working memory, and visual attention served as cognitive measures. Participants completed a 3-T MRI diffusion-weighted imaging scan. Fractional anisotropy (FA) and radial diffusivity (RD) served as WMI measures. Partial correlations between WMI and cognitive scores included controlling for type of treatment. RESULTS: A correlational double dissociation was found. RC-LF WMI was associated with auditory attention (FA: r = .42, p = .03; RD: r = -.50, p = .01) and was not associated with visual attention (FA: r = -.11, p = .59; RD: r = -.11, p = .57). SLF II FA WMI was associated with visual attention (FA: r = .44, p = .02; RD: r = -.17, p = .40) and was not associated with auditory attention (FA: r = .24, p = .22; RD: r = -.10, p = .62). CONCLUSIONS: The results show that RC-LF WMI is associated with auditory attention span rather than working memory per se and provides evidence for a specificity based on the correlational double dissociation.


Assuntos
Atenção/fisiologia , Neoplasias Cerebelares/fisiopatologia , Cerebelo/patologia , Imagem de Tensor de Difusão , Sobreviventes/psicologia , Substância Branca/patologia , Adolescente , Adulto , Anisotropia , Cerebelo/diagnóstico por imagem , Cognição , Transtornos Cognitivos/diagnóstico , Feminino , Humanos , Masculino , Memória de Curto Prazo , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/patologia , Testes Neuropsicológicos , Substância Branca/diagnóstico por imagem , Adulto Jovem
8.
Neuroimage Clin ; 23: 101894, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31229941

RESUMO

INTRODUCTION: In posterior fossa tumor survivors, lower white matter integrity (WMI) in the right cerebellar-left frontal pathway has been well documented and appears to be related to proximity to the cerebellum, radiation treatment, as well as time since treatment in both cranial radiation and surgery-only treatment groups. The current study investigated theories of transneural degeneration following cerebellar tumor resection that may underlie or relate to reductions in WMI and regional brain volumes using correlations. We hypothesized a positive relationship between the volume of the right cerebellum and known white matter output pathways, as well as with the volume of structures that receive cerebellar projections along the pathway. METHODS: Adult survivors of childhood brain tumors were recruited (n = 29; age, M = 22 years, SD = 5; 45% female). Age- and gender-matched controls were also included (n = 29). Participants completed 3 T diffusion-weighted and T1 MPRAGE MRI scans. Brain structure volume relative to intracranial vault served as regional volumetric measures. Fractional anisotropy (FA) and radial diffusivity (RD) served as WMI measures. In the survivor group, partial correlations between WMI and regional volume included controlling for disease severity. RESULTS: In posterior fossa tumor survivors, the volumes of the cerebellum, thalamus, and frontal lobe were correlated with WMI of the thalamic-frontal segment of the cerebellar-frontal pathway (r = 0.41-0.49, p < .05). Cerebellar atrophy was correlated with reduced WMI in the cerebellar-rubral segment (FA, r = -0.32 p > .05; RD, r = 0.53, p < .01). In the no-radiation survivor group, the regional volume of each structure along the pathway was associated with WMI in the cerebellar-rubral segment. In the radiation survivor group, significant correlations were found between the regional brain volume of each structure and the thalamic-frontal segment of the pathway. DISCUSSION: The results of this multimodal neuroimaging study provide correlational evidence that the mechanism of injury subsequent to brain tumor treatment may be different depending on type of treatment(s). Without radiation, the primary mechanism of injury is cerebellar tumor growth, resection, and hydrocephalus. Therefore, the most proximal connection to that injury (cerebellar-rubral pathway) was correlated with reductions in volume along the pathway. In contrast, the survivor group treated with radiation may have had possible radiation-induced demyelination of the thalamic-frontal portion of the pathway, based on a strong correlation with volume loss in the cerebellum, red nucleus, thalamus, and frontal lobe.


Assuntos
Sobreviventes de Câncer , Cerebelo/patologia , Lobo Frontal/patologia , Neoplasias Infratentoriais/patologia , Imageamento por Ressonância Magnética , Neuroimagem , Lesões por Radiação/patologia , Núcleo Rubro/patologia , Tálamo/patologia , Substância Branca/patologia , Adolescente , Adulto , Atrofia/patologia , Cerebelo/diagnóstico por imagem , Imagem de Tensor de Difusão , Feminino , Lobo Frontal/diagnóstico por imagem , Humanos , Neoplasias Infratentoriais/diagnóstico por imagem , Neoplasias Infratentoriais/terapia , Masculino , Vias Neurais/diagnóstico por imagem , Vias Neurais/patologia , Lesões por Radiação/diagnóstico por imagem , Núcleo Rubro/diagnóstico por imagem , Tálamo/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Adulto Jovem
9.
Neuropsychology ; 31(8): 900-920, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28857600

RESUMO

OBJECTIVE: The last 25 years have seen profound changes in neurocognitive rehabilitation that continue to motivate its evolution. Although the concept of nervous system plasticity was discussed by William James (1890), the foundation for experience-based plasticity had not reached the critical empirical mass to seriously impact rehabilitation research until after 1992. The objective of this review is to describe how the emergence of neural plasticity has changed neurocognitive rehabilitation research. METHOD: The important developments included (a) introduction of a widely available tool that could measure brain plasticity (i.e., functional MRI); (b) development of new structural imaging techniques that could define limits of and opportunities for neural plasticity; (c) deployment of noninvasive brain stimulation to leverage neural plasticity for rehabilitation; (d) growth of a literature indicating that exercise has positively impacts neural plasticity, especially for older persons; and (e) enhancement of neural plasticity by creating interventions that generalize beyond the boundaries of treatment activities. Given the massive literature, each of these areas is developed by example. RESULTS: The expanding influence of neural plasticity has provided new models and tools for neurocognitive rehabilitation in neural injuries and disorders, as well as methods for measuring neural plasticity and predicting its limits and opportunities. Early clinical trials have provided very encouraging results. CONCLUSION: Now that neural plasticity has gained a firm foothold, it will continue to influence the evolution of neurocognitive rehabilitation research for the next 25 years and advance rehabilitation for neural injuries and disease. (PsycINFO Database Record


Assuntos
Encefalopatias/reabilitação , Lesões Encefálicas/reabilitação , Encéfalo/fisiologia , Reabilitação Neurológica/tendências , Plasticidade Neuronal/fisiologia , Pesquisa de Reabilitação/tendências , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Encefalopatias/diagnóstico por imagem , Encefalopatias/fisiopatologia , Lesões Encefálicas/diagnóstico por imagem , Lesões Encefálicas/fisiopatologia , Neuroimagem Funcional , Humanos , Imageamento por Ressonância Magnética , Recuperação de Função Fisiológica , Reabilitação do Acidente Vascular Cerebral , Estimulação Transcraniana por Corrente Contínua
10.
Schizophr Bull ; 38(2): 263-71, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20554785

RESUMO

The goal of the present analyses was to examine the hypothesis that mild forms of thought disorder (TD) may serve as an indicator of genetic liability for schizophrenia. A subset of 232 subjects drawn from the New York High-Risk Project was used to compare individuals at high risk for schizophrenia (ie, offspring of parents with schizophrenia; n = 63) with 2 groups of individuals at low risk for schizophrenia (ie, offspring of parents with affective disorder [n = 52] and offspring of psychiatrically normal parents [n = 117]). Subjects were administered the Rorschach Inkblot Test, and their responses were assessed according to the Thought Disorder Index (TDI). The high-risk offspring displayed significantly more TD than the other 2 groups, as shown by significantly higher TDI scores. Moreover, they had more deviant verbalizations, according to their significantly higher scores on a composite Idiosyncratic Verbalizations score. As expected, the offspring who developed psychosis produced more TD in adolescence than those who did not develop psychosis. In the sample as a whole, TD scores during late adolescence/early adulthood were positively associated with schizotypal features during mid-adulthood. These findings support the assertion that the presence of TD serves as an endophenotypic marker of a schizophrenia diathesis.


Assuntos
Filho de Pais com Deficiência/psicologia , Endofenótipos , Esquizofrenia/genética , Transtorno da Personalidade Esquizotípica , Adolescente , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Teste de Rorschach , Psicologia do Esquizofrênico , Adulto Jovem
11.
Genet Epidemiol ; 32(5): 445-53, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18481795

RESUMO

The age of onset of Huntington's disease (HD) is inversely correlated with the CAG length in the HD gene. The CAG repeat length accounts for 70% of the variability in HD age of onset. However, 90% of individuals worldwide with expanded alleles possess between 40 and 50 CAG repeat lengths in their HD gene. For these people, the size of their repeat only determines 44% of the variability in their age of onset. Once the effect of the CAG repeat has been accounted for, the residual variance in age of onset is a heritable trait. Targeted candidate gene studies and a genome scan have suggested some loci as potential modifiers of the age of onset of HD. We analyzed the large Venezuelan kindreds in which the HD gene was originally identified. These kindreds offer greater analytic power than standard sib-pair designs. We developed novel pedigree-member selection procedures to maximize power. Using a 5,858-single-nucleotide-polymorphism marker panel, we performed a genomewide linkage analysis. We discovered two novel loci on chromosome 2. Chromosome 2p25 (logarithm of the odds ratio (LOD)=4.29) and 2q35 (LOD=3.39) may contain genes that modify age of onset. A third linkage peak on chromosome 6q22 (LOD=2.48) may confirm the most promising locus from a previous genome scan. Two other candidate loci are suggestive on chromosome 5 (LOD=3.31 at 5p14 and LOD=3.14 at 5q32). All these regions harbor candidate genes that are potential HD modifier genes. Finding these modifier genes can reveal accessible and promising new therapeutic pathways and targets to ameliorate and cure HD.


Assuntos
Ligação Genética , Doença de Huntington/genética , Adulto , Idade de Início , Mapeamento Cromossômico , Cromossomos Humanos Par 2 , Cromossomos Humanos Par 6 , Genoma Humano , Humanos , Pessoa de Meia-Idade , Linhagem , Venezuela/epidemiologia
12.
Ann Hum Genet ; 71(Pt 3): 295-301, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17181545

RESUMO

Age of onset for Huntington's disease (HD) varies inversely with the length of the disease-causing CAG repeat expansion in the HD gene. A simple exponential regression model yielded adjusted R-squared values of 0.728 in a large set of Venezuelan kindreds and 0.642 in a North American, European, and Australian sample (the HD MAPS cohort). We present evidence that a two-segment exponential regression curve provides a significantly better fit than the simple exponential regression. A plot of natural log-transformed age of onset against CAG repeat length reveals this segmental relationship. This two-segment exponential regression on age of onset data increases the adjusted R-squared values by 0.012 in the Venezuelan kindreds and by 0.035 in the HD MAPS cohort. Although the amount of additional variance explained by the segmental regression approach is modest, the two slopes of the two-segment regression are significantly different from each other in both the Venezuelan kindreds [F(2, 439) = 11.13, P= 2 x 10(-5)] and in the HD MAPS cohort [F(2, 688) = 38.27, P= 2 x 10(-16)]. In both populations, the influence of each CAG repeat on age of onset appears to be stronger in the adult-onset range of CAG repeats than in the juvenile-onset range.


Assuntos
Doença de Huntington/genética , Repetições de Trinucleotídeos , Adulto , Idade de Início , Austrália , Criança , Estudos de Coortes , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Genéticos , América do Norte , Expansão das Repetições de Trinucleotídeos , Venezuela
13.
Brain Cogn ; 58(1): 109-18, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15878731

RESUMO

A duration-bisection procedure was used to study the effects of signal modality and divided attention on duration classification in participants at high genetic risk for schizophrenia (HrSz), major affective disorder (HrAff), and normal controls (NC). Participants learned short and long target durations during training and classified probe durations during test. All groups classified visual signals as shorter than equivalent duration auditory signals. However, the difference between auditory and visual signal classification was significantly larger for the HrSz group than for the NC group. We posit a model in which there is a clock rate difference between auditory and visual signals due to an attentional effect at the level of a mode switch that gates pulses into an accumulator. This attentionally mediated clock rate difference was larger for the HrSz participants than for the NC participants, resulting in a larger auditory/visual difference for the HrSz group.


Assuntos
Atenção/fisiologia , Área de Dependência-Independência , Transtornos do Humor/fisiopatologia , Esquizofrenia/fisiopatologia , Percepção do Tempo/fisiologia , Estimulação Acústica , Adulto , Criança , Saúde da Família , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Transtornos do Humor/diagnóstico , Transtornos do Humor/genética , Estimulação Luminosa , Valores de Referência , Fatores de Risco , Esquizofrenia/diagnóstico , Esquizofrenia/genética
14.
Behav Genet ; 35(3): 351-8, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15864450

RESUMO

This is the first report of data analyses from a consortium of longitudinal genetic-risk studies on offspring of schizophrenic parents (CLOSSER) who were followed from birth or mid-childhood to their early 20's or considerably older ages. Three of the CLOSSER studies provide data to enable us to address long-persisting questions in the schizophrenia literature concerning possible atypicality of hand dominance associated with the illness. Handedness, used as a proxy for cerebral lateralization, is a topic of considerable importance because of its potential to reveal mechanisms in the underlying pathophysiology of schizophrenia. We examine agreement among the CLOSSER studies with respect to possible deviance in handedness in subjects with schizophrenic parents (high-risk individuals) and specifically in those who have gone on to develop adult schizophrenia, compared with other subjects of these studies. Possible developmental delay in age at lateralization is also considered.


Assuntos
Lateralidade Funcional/genética , Esquizofrenia/genética , Adolescente , Adulto , Feminino , Humanos , Estudos Longitudinais , Masculino , Pais , Medição de Risco
15.
Proc Natl Acad Sci U S A ; 101(10): 3498-503, 2004 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-14993615

RESUMO

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a triplet (CAG) expansion mutation. The length of the triplet repeat is the most important factor in determining age of onset of HD, although substantial variability remains after controlling for repeat length. The Venezuelan HD kindreds encompass 18,149 individuals spanning 10 generations, 15,409 of whom are living. Of the 4,384 immortalized lymphocyte lines collected, 3,989 DNAs were genotyped for their HD alleles, representing a subset of the population at greatest genetic risk. There are 938 heterozygotes, 80 people with variably penetrant alleles, and 18 homozygotes. Analysis of the 83 kindreds that comprise the Venezuelan HD kindreds demonstrates that residual variability in age of onset has both genetic and environmental components. We created a residual age of onset phenotype from a regression analysis of the log of age of onset on repeat length. Familial correlations (correlation +/- SE) were estimated for sibling (0.40 +/- 0.09), parent-offspring (0.10 +/- 0.11), avuncular (0.07 +/- 0.11), and cousin (0.15 +/- 0.10) pairs, suggesting a familial origin for the residual variance in onset. By using a variance-components approach with all available familial relationships, the additive genetic heritability of this residual age of onset trait is 38%. A model, including shared sibling environmental effects, estimated the components of additive genetic (0.37), shared environment (0.22), and nonshared environment (0.41) variances, confirming that approximately 40% of the variance remaining in onset age is attributable to genes other than the HD gene and 60% is environmental.


Assuntos
Doença de Huntington/etiologia , Doença de Huntington/genética , Adolescente , Adulto , Idade de Início , Idoso , Criança , Pré-Escolar , Meio Ambiente , Feminino , Humanos , Doença de Huntington/epidemiologia , Masculino , Pessoa de Meia-Idade , Modelos Genéticos , Fenótipo , Expansão das Repetições de Trinucleotídeos , Venezuela/epidemiologia
16.
Schizophr Res ; 57(2-3): 173, 2002 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-12223248

RESUMO

It has been suggested that performance on the Wisconsin Card Sorting Test (WCST) may be an indicator of vulnerability to schizophrenia. WCST deficits have been demonstrated in schizophrenic patients and their relatives, but not as yet in their offspring. This study aimed to further establish the indicator potential of WCST deficits by analyzing data collected as part of the New York High-Risk Project (NYHRP), a longitudinal study of attention, cognition and clinical functioning in the offspring of schizophrenic (HRSz, n=73), affective disordered (HRAff, n=61) and normal comparison (NC, n=120) parents. Parental Research Diagnostic Criteria diagnoses were established by semi-structured interview (SADS-L). WCST testing was carried out when offspring were in their mid-20s. HRSz subjects performed significantly more poorly on the WCST than HRAff and NC subjects. High-risk subjects who developed psychotic symptoms prior to or shortly after testing did not differ significantly from HRSz subjects who did not become ill. Thus, WCST performance in the offspring of schizophrenics resembles that of schizophrenic patients and may distinguish HRSz from offspring at risk for nonschizophrenic illness. WCST deficits may be a specific familial indicator of vulnerability, but appear not to distinguish between those subjects at risk for schizophrenia who do or do not become ill.


Assuntos
Filho de Pais com Deficiência , Transtornos Cognitivos/epidemiologia , Predisposição Genética para Doença , Esquizofrenia/genética , Criança , Transtornos Cognitivos/diagnóstico , Feminino , Humanos , Modelos Lineares , Masculino , Análise Multivariada , Testes Neuropsicológicos , New York/epidemiologia , Esquizofrenia/epidemiologia
17.
J Psychiatr Res ; 27(4): 379-393, 1993.
Artigo em Inglês | MEDLINE | ID: mdl-22287799

RESUMO

One hundred and seventy-five offspring of parents in two psychiatrically ill groups and of normal controls in the New York High-Risk Project (NYHRP) were assessed for Axis II personality traits and disorders as defined by the Diagnostic and Statistical Manual of Mental Disorders, Third Edition, Revised (DSM-III-R). These offspring include: subjects at high risk for schizophrenia (HRSz, n = 48), all of whom have a parent with schizophrenic disorder; subjects at high risk for affective disorder (HRAff, n = 40), all of whom have a parent with affective disorder; and subjects at no increased risk for psychiatric illness (NC, n = 87), whose parents are psychiatrically normal. The trained interviewers, who administered a standardized direct interview, were blind to parental clinical status and to previous clinical status of the offspring.The rates for any personality disorder (PD) ranged from 7% to 20%. Comorbidity between Axis I and Axis II disorders was high for all groups.

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