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1.
Eur J Neurosci ; 56(9): 5615-5636, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35799324

RESUMO

Down's syndrome is associated with pathological ageing and a propensity for early-onset Alzheimer's disease. The early symptoms of dementia in people with Down's syndrome may reflect frontal lobe vulnerability to amyloid deposition. Auditory predictive processes rely on the bilateral auditory cortices with the recruitment of frontal cortices and appear to be impaired in pathologies characterized by compromised frontal lobe. Hence, auditory predictive processes were investigated to assess Down's syndrome pathology and its relationship with pathological ageing. An auditory electroencephalography (EEG) global-local paradigm was presented to the participants, in which oddball stimuli could either violate local or higher level global rules. We characterised predictive processes in individuals with Down's syndrome and their relationship with pathological ageing, with a focus on the EEG event-related potential called Mismatch Negativity (MMN) and the P300. In Down's syndrome, we also evaluated the EEG components as predictor of cognitive decline 1 year later. We found that predictive processes of detection of auditory violations are overall preserved in Down's syndrome but also that the amplitude of the MMN to local deviancies decreases with age. However, the 1-year follow-up of Down's syndrome found that none of the ERPs measures predicted subsequent cognitive decline. The present study provides a novel characterization of electrophysiological markers of local and global predictive processes in Down's syndrome.


Assuntos
Doença de Alzheimer , Síndrome de Down , Adulto , Humanos , Síndrome de Down/diagnóstico , Síndrome de Down/patologia , Síndrome de Down/psicologia , Envelhecimento , Eletroencefalografia
2.
Int J Geriatr Psychiatry ; 35(6): 650-661, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32100307

RESUMO

The presence of age-related neuropathology characteristic of Alzheimer's disease (AD) in people with Down syndrome (DS) is well-established. However, the early symptoms of dementia may be atypical and appear related to dysfunction of prefrontal circuitry. OBJECTIVE: To characterize the initial informant reported age-related neuropsychiatric symptoms of dementia in people with DS, and their relationship to AD and frontal lobe function. METHODS: Non-amnestic informant reported symptoms (disinhibition, apathy, and executive dysfunction) and amnestic symptoms from the CAMDEX-DS informant interview were analyzed in a cross-sectional cohort of 162 participants with DS over 30 years of age, divided into three groups: stable cognition, prodromal dementia, and AD. To investigate age-related symptoms prior to evidence of prodromal dementia we stratified the stable cognition group by age. RESULTS: Amnestic and non-amnestic symptoms were present before evidence of informant-reported cognitive decline. In those who received the diagnosis of AD, symptoms tended to be more marked. Memory impairments were more marked in the prodromal dementia than the stable cognition group (OR = 35.07; P < .001), as was executive dysfunction (OR = 7.16; P < .001). Disinhibition was greater in the AD than in the prodromal dementia group (OR = 3.54; P = .04). Apathy was more pronounced in the AD than in the stable cognition group (OR = 34.18; P < .001). CONCLUSION: Premorbid amnestic and non-amnestic symptoms as reported by informants increase with the progression to AD. For the formal diagnosis of AD in DS this progression of symptoms needs to be taken into account. An understanding of the unique clinical presentation of DS in AD should inform treatment options.


Assuntos
Doença de Alzheimer , Apatia , Síndrome de Down , Doença de Alzheimer/diagnóstico , Estudos Transversais , Síndrome de Down/complicações , Lobo Frontal , Humanos , Testes Neuropsicológicos
3.
Int J Clin Oncol ; 25(10): 1763-1773, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32642850

RESUMO

PURPOSE: Posterior fossa brain tumours (PFT) and their treatment in young children are often associated with subsequent cognitive impairment. However, reported follow-up periods rarely exceed 10 years. This study reports very long-term cognitive consequences of surviving an early childhood PFT. METHODS: 62 adult survivors of a PFT, ascertained from a national register, diagnosed before 5 years of age, and a sibling control, received a single IQ assessment an average of 32 years (range 18-53) after initial diagnosis, using the Weschler Abbreviated Scale of Intelligence. Regression models were fitted to survivor-sibling pair differences on verbal and performance IQ (VIQ and PIQ) scores to investigate whether increasing time between PFT diagnosis and follow-up IQ assessment contributed to survivor-sibling IQ differences. RESULTS: At follow-up, survivors had, on average, VIQ 15 points and PIQ 19 points lower than their siblings. There was no significant effect of time since diagnosis on survivor-sibling VIQ difference. Survivors who received radiotherapy showed no significant effect of time since diagnosis on survivor-sibling PIQ difference. Survivors who did not receive radiotherapy demonstrated a trend for it to reduce. CONCLUSIONS: VIQ and PIQ deficits persist in adulthood, suggesting the effect of a fixed injury imposing on cognitive development, rather than an ongoing pathological process. IMPLICATIONS FOR CANCER SURVIVORS: The findings will help parents and others supporting survivors of an early life PFT to identify and plan for possible cognitive outcomes, and highlight the importance of early interventions to optimize cognitive function during the developmental period.


Assuntos
Neoplasias Encefálicas/psicologia , Sobreviventes de Câncer/psicologia , Cognição/fisiologia , Adolescente , Adulto , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/terapia , Pré-Escolar , Feminino , Humanos , Testes de Inteligência , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Irmãos , Adulto Jovem
4.
J Appl Res Intellect Disabil ; 32(6): 1412-1420, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31218787

RESUMO

OBJECTIVES: To understand the views of qualified medical practitioners regarding "reasonable adjustments" and the quality of the care and treatment provided to adults with intellectual disabilities when admitted to acute hospitals as inpatients. METHODS: Semi-structured interviews took place with 14 medical practitioners, seven from each of two acute hospitals, with a thematic analysis of the resulting data. RESULTS: All 14 medical practitioners reported problems in the diagnosis and treatment of patients with intellectual disabilities. Most participants attributed these difficulties to communication problems and/or behaviours that, in the context of a hospital ward, were non-conforming. However, a minority reported that, because they were likely to have multiple comorbid health conditions, patients with intellectual disabilities were more complex. In addition, half of all these respondents reported making little use of "reasonable adjustments" introduced to improve the quality of the care received by this group of patients. CONCLUSIONS: Medical practitioners should make better use of the "reasonable adjustments" introduced in the UK to address inequities in care and treatment received by patients with intellectual disabilities. However, training should also focus on the biomedical complexities often presented by these men and women.


Assuntos
Comunicação , Pessoal de Saúde , Hospitalização , Deficiência Intelectual , Qualidade da Assistência à Saúde , Hospitais , Humanos , Comportamento Problema , Pesquisa Qualitativa , Reino Unido
5.
Alzheimers Dement (Amst) ; 16(2): e12582, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38623384

RESUMO

INTRODUCTION: People with Down syndrome (DS) have a 75% to 90% lifetime risk of Alzheimer's disease (AD). AD pathology begins a decade or more prior to onset of clinical AD dementia in people with DS. It is not clear if plasma biomarkers of AD pathology are correlated with early cognitive and functional impairments in DS, and if these biomarkers could be used to track the early stages of AD in DS or to inform inclusion criteria for clinical AD treatment trials. METHODS: This large cross-sectional cohort study investigated the associations between plasma biomarkers of amyloid beta (Aß)42/40, total tau, and neurofilament light chain (NfL) and cognitive (episodic memory, visual-motor integration, and visuospatial abilities) and functional (adaptive behavior) impairments in 260 adults with DS without dementia (aged 25-81 years). RESULTS: In general linear models lower plasma Aß42/40 was related to lower visuospatial ability, higher total tau was related to lower episodic memory, and higher NfL was related to lower visuospatial ability and lower episodic memory. DISCUSSION: Plasma biomarkers may have utility in tracking AD pathology associated with early stages of cognitive decline in adults with DS, although associations were modest. Highlights: Plasma Alzheimer's disease (AD) biomarkers correlate with cognition prior to dementia in Down syndrome.Lower plasma amyloid beta 42/40 was related to lower visuospatial abilities.Higher plasma total tau and neurofilament light chain were associated with lower cognitive performance.Plasma biomarkers show potential for tracking early stages of AD symptomology.

6.
J Appl Res Intellect Disabil ; 26(5): 370-83, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23925960

RESUMO

BACKGROUND: While several validated measures of the life circumstances of people with intellectual disabilities (ID) have been developed, this stream of research has not yet been well integrated with environmentally oriented criminological theory to explain offending among people with ID. In this study, we attempt to provide a preliminary integration through an investigation of the relationship between contemporary life experiences, well-being, choice and offending among people with ID, exploring the relevance of two classic criminological theories (theories of strain and social control). MATERIALS AND METHODS: Questionnaire measures were used to compare a range of 'ordinary' life experiences [the 'Life Experiences Checklist' (LEC)], subjective well-being (the 'Personal Well-being Index - ID') and the extent of choice (the 'Choice Questionnaire'), between offenders (N = 27) and non-offenders (N = 19) with ID recruited through integrated (NHS and Local Authority) multi-disciplinary teams (community teams for adults with learning disabilities). RESULTS: Using regression analyses to explore the strength of associations with offending, it was found that an indicator of impoverished personal relationships, from the LEC provided the best predictor of offending. This finding appears to favour criminological explanations based on social control. CONCLUSIONS: Existing measures of life circumstances can be used to explore environmentally oriented criminological theories, bringing benefits to our understanding and treatment of offenders with ID living in community settings.


Assuntos
Criminosos/psicologia , Deficiência Intelectual/psicologia , Teoria Psicológica , Adulto , Criminologia/métodos , Feminino , Psiquiatria Legal/métodos , Humanos , Masculino , Serviços de Saúde Mental , Pessoa de Meia-Idade , Características de Residência , Índice de Gravidade de Doença , Adulto Jovem
7.
J Appl Res Intellect Disabil ; 26(2): 167-80, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23281218

RESUMO

BACKGROUND: The Equipping Youth to Help One Another Programme (EQUIP) was designed for young offenders to address a developmental delay in moral reasoning, distorted cognitions and social skills. METHODS: The present authors undertook a single case series study and piloted an adapted version of the EQUIP programme with three men with intellectual disabilities and four men with a diagnosis of Asperger Syndrome, all of whom were detained in a medium-secure forensic unit for people with intellectual disabilities. Treatment was delivered over a 12-week period, and participants took part in four-one-hour sessions per week. RESULTS: The results suggested that treatment was successful at increasing moral reasoning ability, reducing distorted cognitions and improving ability to choose effective solutions to problems. However, treatment did not have a significant effect upon anger. CONCLUSIONS: The EQUIP programme is a promising treatment, but further research is needed to investigate its effectiveness with men with intellectual or other developmental disabilities.


Assuntos
Síndrome de Asperger/reabilitação , Criminosos/psicologia , Pacientes Internados/psicologia , Deficiência Intelectual/reabilitação , Avaliação de Programas e Projetos de Saúde , Adulto , Ira , Cognição , Tomada de Decisões , Inglaterra , Hospitais Especializados , Humanos , Masculino , Princípios Morais , Projetos Piloto , Resolução de Problemas , Comportamento Social , Inquéritos e Questionários , Adulto Jovem
8.
Int Rev Res Dev Disabil ; 62: 227-263, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-37396708

RESUMO

Down syndrome (DS) is now viewed as a genetic type of Alzheimer's disease (AD), given the near-universal presence of AD pathology in middle adulthood and the elevated risk for developing clinical AD in DS. As the field of DS prepares for AD clinical intervention trials, there is a strong need to identify cognitive measures that are specific and sensitive to the transition from being cognitively stable to the prodromal (e.g., Mild Cognitive Impairment-Down syndrome) and clinical AD (e.g., Dementia) stages of the disease in DS. It is also important to determine cognitive measures that map onto biomarkers of early AD pathology during the transition from the preclinical to the prodromal stage of the disease, as this transition period is likely to be targeted and tracked in AD clinical trials. The present chapter discusses the current state of research on cognitive measures that could be used to screen/select study participants and as potential outcome measures in future AD clinical trials with adults with DS. In this chapter, we also identify key challenges that need to be overcome and questions that need to be addressed by the DS field as it prepares for AD clinical trials in the coming years.

9.
Alzheimers Dement (Amst) ; 14(1): e12361, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36212742

RESUMO

Introduction: The development of valid methods to diagnose prodromal Alzheimer's disease (AD) in adults with Down syndrome (DS) is one of the many goals of the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS). Methods: The diagnostic utility of a modified Cued Recall Test (mCRT) was evaluated in 332 adults with DS ranging from 25 to 81 years of age. Total recall was selected a priori, as the primary indicator of performance. Multiple regression and receiver-operating characteristic (ROC) analyses were used to compare diagnostic groups. Results: Performance on the mCRT, as indicated by the total recall score, was highly sensitive to differences between diagnostic groups. ROC areas under the curve (AUCs) ranging from 0.843 to 0.955, were observed. Discussion: The mCRT has strong empirical support for its use in clinical settings, as a valuable tool in studies targeting biomarkers of AD, and as a potential outcome measure in clinical trials targeting AD in this high-risk population.

10.
Neurobiol Aging ; 119: 36-45, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35964542

RESUMO

This study investigates whether tau has (i) an independent effect from amyloid-ß on changes in cognitive and functional performance and (ii) a synergistic relationship with amyloid-ß in the exacerbation of decline in aging Down syndrome (DS). 105 participants with DS underwent baseline PET [18F]-AV1451 and PET [11C]PiB scans to quantify tau deposition in Braak regions II-VI and the Striatum and amyloid-ß status respectively. Linear Mixed Effects models were implemented to assess how tau and amyloid-ß deposition are related to change over three time points. Tau was a significant independent predictor of cognitive and functional change. The three-way interaction between time, [11C]PiB status and tau was significant in the models of episodic memory and visuospatial cognition. Baseline tau is a significant predictor of cognitive and functional decline, over and above the effect of amyloid-ß status. Results suggest a synergistic relationship between amyloid-ß status and tau as predictors of change in memory and visuospatial cognition.


Assuntos
Peptídeos beta-Amiloides , Disfunção Cognitiva , Síndrome de Down , Proteínas tau , Peptídeos beta-Amiloides/metabolismo , Encéfalo/metabolismo , Cognição/fisiologia , Envelhecimento Cognitivo/fisiologia , Disfunção Cognitiva/metabolismo , Disfunção Cognitiva/psicologia , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/metabolismo , Síndrome de Down/psicologia , Humanos , Tomografia por Emissão de Pósitrons/métodos , Proteínas tau/metabolismo
11.
Neurobiol Aging ; 115: 112-121, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35418341

RESUMO

Down's syndrome results from trisomy of chromosome 21, a genetic change which also confers a probable 100% risk for the development of Alzheimer's disease neuropathology (amyloid plaque and neurofibrillary tangle formation) in later life. We aimed to assess the effectiveness of diffusion-weighted imaging and connectomic modelling for predicting brain amyloid plaque burden, baseline cognition and longitudinal cognitive change using support vector regression. Ninety-five participants with Down's syndrome successfully completed a full Pittsburgh Compound B (PiB) PET-MR protocol and memory assessment at two timepoints. Our findings indicate that graph theory metrics of node degree and strength based on the structural connectome are effective predictors of global amyloid deposition. We also show that connection density of the structural network at baseline is a promising predictor of current cognitive performance. Directionality of effects were mainly significant reductions in the white matter connectivity in relation to both PiB+ status and greater rate of cognitive decline. Taken together, these results demonstrate the integral role of the white matter during neuropathological progression and the utility of machine learning methodology for non-invasively evaluating Alzheimer's disease prognosis.


Assuntos
Doença de Alzheimer , Amiloidose , Síndrome de Down , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/patologia , Amiloide/metabolismo , Proteínas Amiloidogênicas , Amiloidose/patologia , Encéfalo/metabolismo , Cognição , Síndrome de Down/psicologia , Humanos , Placa Amiloide/diagnóstico por imagem , Placa Amiloide/patologia , Máquina de Vetores de Suporte
12.
Autism ; 25(8): 2209-2222, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34132124

RESUMO

LAY ABSTRACT: Many autistic people report difficulties making decisions during everyday tasks, such as shopping. To examine the effect of sounds on decision-making, we developed a supermarket task where people watched a film shown from the shopper's perspective and were asked to make decisions between different products. The task was divided into three sections and participants completed each section in a different auditory environment: (1) no sounds, (2) non-social sounds (e.g. fridges humming) and (3) social sounds (e.g. people talking). Thirty-eight autistic and 37 neurotypical adults took part. We measured decision-making by examining how long it took to make a decision and how consistent people were with their decisions. We also measured heart rate variability because this biological response provides a measure of anxiety. After the supermarket shopping task, participants told us in their own words about their experiences. Autistic participants said that they found the non-social and social sound conditions more difficult than the no sound condition, and autistic participants found the social sound condition more negative than neurotypical participants. However, decision-making and heart rate variability were similar for autistic and neurotypical participants across the sound conditions, suggesting that these measures may not have been sensitive enough to reflect the experiences the autistic participants reported. Further research should consider alternative measures to explore the experiences reported by autistic people to help us understand which specific aspects of the environment autistic people are sensitive to. This, in turn, may enable more specific and evidence-based autism-friendly changes to be made.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Adulto , Transtornos de Ansiedade , Frequência Cardíaca , Humanos
13.
Brain Sci ; 11(8)2021 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-34439728

RESUMO

BACKGROUND: Acute regression has been reported in some individuals with Down syndrome (DS), typically occurring between the teenage years and mid to late 20s. Characterized by sudden, and often unexplained, reductions in language skills, functional living skills and reduced psychomotor activity, some individuals have been incorrectly diagnosed with Alzheimer's disease (AD). METHODS: This paper compares five individuals with DS who previously experienced acute regression with a matched group of 15 unaffected individuals with DS using a set of AD biomarkers. RESULTS: While the sample was too small to conduct statistical analyses, findings suggest there are possible meaningful differences between the groups on proteomics biomarkers (e.g., NfL, total tau). Hippocampal, caudate and putamen volumes were slightly larger in the regression group, the opposite of what was hypothesized. A slightly lower amyloid load was found on the PET scans for the regression group, but no differences were noted on tau PET. CONCLUSIONS: Some proteomics biomarker findings suggest that individuals with DS who experience acute regression may be at increased risk for AD at an earlier age in comparison to unaffected adults with DS. However, due to the age of the group (mean 38 years), it may be too early to observe meaningful group differences on image-based biomarkers.

14.
J Clin Med ; 10(19)2021 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-34640600

RESUMO

The purpose of this review is to compare and highlight the clinical and pathological aspects of genetic versus acquired Alzheimer's disease: Down syndrome-associated Alzheimer's disease in (DSAD) and Autosomal Dominant Alzheimer's disease (ADAD) are compared with the late-onset form of the disease (LOAD). DSAD and ADAD present in a younger population and are more likely to manifest with non-amnestic (such as dysexecutive function features) in the prodromal phase or neurological features (such as seizures and paralysis) especially in ADAD. The very large variety of mutations associated with ADAD explains the wider range of phenotypes. In the LOAD, age-associated comorbidities explain many of the phenotypic differences.

15.
Brain Commun ; 3(1): fcaa198, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33543138

RESUMO

Positron emission tomography imaging of glucose hypometabolism and amyloid deposition are two well-established methods to evaluate preclinical changes in Alzheimer's disease and people with Down syndrome. However, the use of both imaging modalities may overburden participants, particularly those with intellectual disabilities and cognitive impairment. The relative tracer delivery of the [11C]-Pittsburgh Compound B has been proposed as a viable surrogate for cerebral perfusion. Here, we studied the impact of amyloid pathology on perfusion changes in Down syndrome and evaluated its associations with cognitive impairment. In total, 47 adults with Down syndrome underwent the [11C]-Pittsburgh Compound B imaging and structural imaging. The structural data were processed with Freesurfer to obtain anatomical segmentations and cortical thickness. The relative tracer delivery from [11C]-Pittsburgh Compound B was derived using a simplified reference tissue model. The sample was stratified into those with minimal amyloid burden (n = 25) and those with elevated amyloid (n = 22). We found significant and widespread reductions of cerebral perfusion in those with elevated amyloid burden, independent of age, gender, cognitive function and cortical thickness. In addition, cerebral perfusion was associated with the cognitive impairment among the Down syndrome group with elevated amyloid burden. These findings highlight the promising utility of the relative tracer delivery of the [11C]-Pittsburgh Compound B as a surrogate index in clinical trials for monitoring disease progression or tracking physiologic changes over time in Down syndrome.

16.
Lancet Neurol ; 20(8): 605-614, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34302785

RESUMO

BACKGROUND: Adults with Down syndrome are at an ultra-high risk of Alzheimer's disease, but diagnosis of Alzheimer's disease in this population is challenging. We aimed to validate the clinical utility of plasma neurofilament light chain (NfL) for the diagnosis of symptomatic Alzheimer's disease in Down syndrome, assess its prognostic value, and establish longitudinal changes in adults with Down syndrome. METHODS: We did a multicentre cohort study, including adults with Down syndrome (≥18 years), recruited from six hospitals and university medical centres in France, Germany, Spain, the UK, and the USA, who had been assessed, followed up, and provided at least two plasma samples. Participants were classified by local clinicians, who were masked to biomarker data, as asymptomatic (ie, no clinical suspicion of Alzheimer's disease), prodromal Alzheimer's disease, or Alzheimer's disease dementia. We classified individuals who progressed along the Alzheimer's disease continuum during follow-up as progressors. Plasma samples were analysed retrospectively; NfL concentrations were measured centrally using commercial kits for biomarker detection. We used ANOVA to evaluate differences in baseline NfL concentrations, Cox regression to study their prognostic value, and linear mixed models to estimate longitudinal changes. To account for potential confounders, we included age, sex, and intellectual disability as covariates in the analyses. FINDINGS: Between Aug 2, 2010, and July 16, 2019, we analysed 608 samples from 236 people with Down syndrome: 165 (70%) were asymptomatic, 32 (14%) had prodromal Alzheimer's disease, and 29 (12%) had Alzheimer's disease dementia; ten [4%] participants were excluded because their classification was uncertain. Mean follow-up was 3·6 years (SD 1·6, range 0·6-9·2). Baseline plasma NfL concentrations showed an area under the receiver operating characteristic curve of 0·83 (95% CI 0·76-0·91) in the prodromal group and 0·94 (0·90-0·97) in the dementia group for differentiating from participants who were asymptomatic. An increase of 1 pg/mL in baseline NfL concentrations was associated with a 1·04-fold risk of clinical progression (95% CI 1·01-1·07; p=0·0034). Plasma NfL concentrations showed an annual increase of 3·0% (95% CI 0·4-5·8) per year in the asymptomatic non-progressors group, 11·5% (4·9-18·5) per year in the asymptomatic progressors group, and 16·0% (8·4-24·0) per year in the prodromal Alzheimer's disease progressors group. In participants with Alzheimer's disease dementia, NfL concentrations increased by a mean of 24·3% (15·3-34·1). INTERPRETATION: Plasma NfL concentrations have excellent diagnostic and prognostic performance for symptomatic Alzheimer's disease in Down syndrome. The longitudinal trajectory of plasma NfL supports its use as a theragnostic marker in clinical trials. FUNDING: AC Immune, La Caixa Foundation, Instituto de Salud Carlos III, National Institute on Aging, Wellcome Trust, Jérôme Lejeune Foundation, Medical Research Council, National Institute for Health Research, EU Joint Programme-Neurodegenerative Disease Research, Alzheimer's society, Deutsche Forschungsgemeinschaft, Stiftung für die Erforschung von Verhaltens und Umwelteinflüssen auf die menschliche Gesundheit, and NHS National Institute of Health Research Applied Research Collaborations East of England, UK.


Assuntos
Síndrome de Down/diagnóstico , Proteínas de Neurofilamentos/sangue , Adulto , Fatores Etários , Idoso , Doença de Alzheimer/sangue , Doença de Alzheimer/etiologia , Apolipoproteína E4/genética , Estudos de Coortes , Progressão da Doença , Síndrome de Down/sangue , Síndrome de Down/psicologia , Feminino , Humanos , Deficiência Intelectual , Filamentos Intermediários , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Curva ROC , Fatores Sexuais
17.
J Health Serv Res Policy ; 13(2): 73-8, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18416911

RESUMO

OBJECTIVES: To examine attitudes to the Mental Capacity Act's new statutory Independent Mental Capacity Advocate (IMCA) service in England and Wales and consider the implications for its delivery. METHODS: Quantitative data describing all referrals to the seven pilot IMCA services (January 2006-March 2007) and qualitative data from semi-structured interviews with 18 doctors, 21 senior nurses and one discharge planning manager in four general hospitals in England. RESULTS: Of 127 hospital-based referrals to the seven pilot IMCA services, 29 (23%) were for patients facing serious medical treatments, 52% of whom were judged to lack decision-making capacity due to a learning disability; ninety-eight (77%) were for patients facing a change of accommodation upon hospital discharge, 62% of whom were elderly and lacked capacity due to dementia. While aware of the potential benefits of the IMCA service, clinicians were generally negative about the contribution advocates could make to patients' medical care and thought they could only contribute usefully in a minority of ethically complicated decisions. In contrast, they were more positive about the involvement of advocates in hospital discharge decisions and hoped that they would improve current discharge practice. CONCLUSIONS: Clinicians held ambivalent attitudes towards the involvement of a statutory IMCA service in medical decisions, reflecting beliefs that the service was largely impractical and unnecessary given current procedures for making medical decisions in patients' 'best interests'. Conversely, clinicians were more likely to support advocacy in discharge decisions because they believed that non-medically qualified advocates could make a valuable contribution to decisions that were seen as predominantly social and where practice was frequently considered deficient. By holding these beliefs, clinicians are failing to have due regard for the IMCA service as a statutory measure for safeguarding patients' interests.


Assuntos
Atitude do Pessoal de Saúde , Corpo Clínico Hospitalar , Competência Mental/legislação & jurisprudência , Defesa do Paciente/legislação & jurisprudência , Inglaterra , Fidelidade a Diretrizes , Hospitais Públicos , Humanos , Entrevistas como Assunto , Encaminhamento e Consulta
18.
Autism ; 22(5): 549-559, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-28425298

RESUMO

Autobiographical accounts and a limited research literature suggest that adults with autism spectrum disorders can experience difficulties with decision-making. We examined whether some of the difficulties they describe correspond to quantifiable differences in decision-making when compared to adults in the general population. The participants (38 intellectually able adults with autism spectrum disorders and 40 neurotypical adults) were assessed on three tasks of decision-making (Iowa Gambling Task, Cambridge Gamble Task and Information Sampling Task), which quantified, respectively, decision-making performance and relative attention to negative and positive outcomes, speed and flexibility, and information sampling. As a caution, all analyses were repeated with a subset of participants ( nASD = 29 and nneurotypical = 39) who were not taking antidepressant or anxiolytic medication. Compared to the neurotypical participants, participants with autism spectrum disorders demonstrated slower decision-making on the Cambridge Gamble Task, and superior performance on the Iowa Gambling Task. When those taking the medications were excluded, participants with autism spectrum disorders also sampled more information. There were no other differences between the groups. These processing tendencies may contribute to the difficulties self-reported in some contexts; however, the results also highlight strengths in autism spectrum disorders, such as a more logical approach to, and care in, decision-making. The findings lead to recommendations for how adults with autism spectrum disorders may be better supported with decision-making.


Assuntos
Atenção , Transtorno do Espectro Autista/psicologia , Tomada de Decisões , Análise e Desempenho de Tarefas , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Autorrelato , Adulto Jovem
19.
J Soc Welf Fam Law ; 29(2)2007 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-24187442

RESUMO

The Mental Capacity Act 2005 (MCA) authorises substitute decision-making in England and Wales, in relation to 'acts in connection with care or treatment', for a person lacking the capacity to make an autonomous decision, if it is both necessary and in his or her 'best interests'. The approach adopted by the MCA is consistent with the common law, but widens both the scope and procedures of a 'best interests' determination to allow for a general model of substitute decision-making in everyday health and social care. However, by decontextualising substitute decision-making, the MCA's procedures relating to 'best interests' may prove to be problematic in three ways: first, by failing to resolve adequately certain ethical dilemmas that pervade this area; secondly, by reducing applied substitute decision-making to a series of compulsory generalised instructions; and, finally, by necessitating deliberation but offering little practical guidance to the process of determination. Whilst the codification of five statutory principles in the MCA is designed to foster the empowerment of vulnerable adults, the realisation of these procedural and conceptual problems may have a negative impact on the implementation of the Act.

20.
Int J Law Psychiatry ; 46: 50-7, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27062108

RESUMO

The use of detention for psychiatric treatment is widespread and sometimes necessary. International human rights law requires a legal framework to safeguard the rights to liberty and personal integrity by preventing arbitrary detention. However, research suggests that extra-legal factors may influence decisions to detain. This article presents observational and interview data to describe how decisions to detain are made in practice in one jurisdiction (England and Wales) where a tension between policy and practice has been described. The analysis shows that practitioners mould the law into 'practical criteria' that appear to form a set of operational criteria for identifying cases to which the principle of soft paternalism may be applied. Most practitioners also appear willing, albeit often reluctantly, to depart from their usual reliance on the principle of soft paternalism and authorise detention of people with the capacity to refuse treatment, in order to prevent serious harm. We propose a potential resolution for the tension between policy and practice: two separate legal frameworks to authorise detention, one with a suitable test of capacity, used to enact soft paternalism, and the other to provide legal justification for detention for psychiatric treatment of the small number of people who retain decision-making capacity but nonetheless choose to place others at risk by refusing treatment. This separation of detention powers into two systems, according to the principle that justifies the use of detention would be intellectually coherent, consistent with human rights instruments and, being consistent with the apparent moral sentiments of practitioners, less prone to idiosyncratic interpretations in practice.


Assuntos
Internação Compulsória de Doente Mental/legislação & jurisprudência , Política de Saúde/legislação & jurisprudência , Transtornos Mentais/diagnóstico , Transtornos Mentais/terapia , Adulto , Comportamento Perigoso , Inglaterra , Feminino , Humanos , Entrevista Psicológica , Tempo de Internação/legislação & jurisprudência , Masculino , Competência Mental/legislação & jurisprudência , Competência Mental/psicologia , Transtornos Mentais/psicologia , Estudos Observacionais como Assunto , Paternalismo , Admissão do Paciente/legislação & jurisprudência , Defesa do Paciente/legislação & jurisprudência , Segurança do Paciente/legislação & jurisprudência , Medição de Risco/legislação & jurisprudência , Recusa do Paciente ao Tratamento/legislação & jurisprudência , Recusa do Paciente ao Tratamento/psicologia
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