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1.
J Neurodev Disord ; 6(1): 42, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25937842

RESUMO

BACKGROUND: Down syndrome (DS), or trisomy 21, is one of the most common autosomal mutations. People with DS have intellectual disability (ID) and are at significantly increased risk of developing Alzheimer's disease (AD). The biological associates of both ID and AD in DS are poorly understood, but glutamate has been proposed to play a key role. In non-DS populations, glutamate is essential to learning and memory and glutamate-mediated excitotoxicity has been implicated in AD. However, the concentration of hippocampal glutamate in DS individuals with and without dementia has not previously been directly investigated. Proton magnetic resonance spectroscopy ((1)H MRS) can be used to measure in vivo the concentrations of glutamate-glutamine (Glx). The objective of the current study was to examine the hippocampal Glx concentration in non-demented DS (DS-) and demented DS (DS+) individuals. METHODS: We examined 46 adults with DS (35 without dementia and 11 with dementia) and 39 healthy controls (HC) using (1)H MRS and measured their hippocampal Glx concentrations. RESULTS: There was no significant difference in the hippocampal Glx concentration between DS+ and DS-, or between either of the DS groups and the healthy controls. Also, within DS, there was no significant correlation between hippocampal Glx concentration and measures of overall cognitive ability. Last, a sample size calculation based on the effect sizes from this study showed that it would have required 6,257 participants to provide 80% power to detect a significant difference between the groups which would indicate that there is a very low likelihood of a type 2 error accounting for the findings in this study. CONCLUSIONS: Individuals with DS do not have clinically detectable differences in hippocampal Glx concentration. Other pathophysiological processes likely account for ID and AD in people with DS.

2.
Psychiatr Danub ; 23 Suppl 1: S50-6, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21894103

RESUMO

INTRODUCTION: Prescribing Observatory for Mental Health (POMH-UK) runs national audit-based quality improvement programmes open to all specialist mental health services in the UK to help improve prescribing practice in discrete areas. AIMS: The baseline sample and this re-audit represent the largest audits of antipsychotic prescribing in PWLD that have been conducted to date; and thus provide the most generalisable picture of such prescribing nationally. METHODOLOGY: A case note audit of use of antipsychotic medication in PWLD was conducted using standard data collection tool provided by POMH-UK. Trust wide, 7 clinical teams in Essex and Bedfordshire & Luton, participated in the re-audit. Analysis and benchmarking was conducted centrally by POMH-UK and an individualised Trust report was compiled by POMH-UK for local review and consideration. STANDARDS: The indication for treatment with antipsychotic medication should be documented in the clinical records (Deb 2006). The continuing need for antipsychotic medication should be reviewed at least once a year (Deb 2006). Side effects of antipsychotic medication should be reviewed at least once a year. This review should include assessment for the presence of extrapyramidal side effects (EPS), and screening for the 4 aspects of the metabolic syndrome: obesity, hypertension, impaired glucose tolerance and dyslipidaemia (NICE schizophrenia guideline update CG82, 2009). FINDINGS: Out of three standards measured, Standard One maintained 100% throughout the baseline and re-audit and Standard Two achieved over 90% throughout baseline and re-audit. Standard 3 has improved from baseline to re-audit. Overall, there has been clear improvement in all 3 standards from baseline audit.


Assuntos
Antipsicóticos/uso terapêutico , Deficiências da Aprendizagem/complicações , Auditoria Médica/métodos , Padrões de Prática Médica/estatística & dados numéricos , Esquizofrenia/tratamento farmacológico , Humanos , Auditoria Médica/estatística & dados numéricos , Esquizofrenia/complicações , Reino Unido
3.
Psychiatr Danub ; 23 Suppl 1: S178-81, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21894131

RESUMO

BACKGROUND: The proper label to describe people receiving care has evoked considerable debate and controversy among providers and bio-ethicists. Fashionable terms in current use include "patient, client, consumer, customer and service user." There is little evidence to show that changes in nomenclature actually take patients preferences as to how they would like to be addressed into account AIMS: This aim of this study is to survey the views of the people with learning disability in inpatient settings to establish the term they prefer. This is the first study of its kind looking at the views of people with learning disability about how they would like to be addressed and to identify factors associated with various preferences. METHOD: Approval was obtained from the local clinical governance board. The target population covered a tertiary level inpatient service including acute assessment and respite services, forensic (male/female and low/medium secure services) and CAMHS LD covering the Coventry, Warwickshire and Birmingham areas (rural and inner city population). Participants were provided with an information sheet on the research project. The questionnaire was administered by means of a joint interview carried out by the authors of the study. Dictionary definitions were analyzed as to the derivation and connotations of various terminologies. A questionnaire was developed which was tailored for use in PWLD after consultation with Speech & Language Therapists and local peer review. Responses were than analyzed to identify factors associated with various preferences. RESULTS: Evidence indicates lack of universality in preferences for terms and suggests the need for dialogue about preferred terms between service providers and recipients. This study shows a preference for the term "patient" in all categories that were measured within an LD inpatient setting and very interesting demographic preferences were identified. A more differentiated approach may be suggested by taking professional background and some demographic characteristics into consideration. A positive therapeutic relationship is a fundamental component of psychiatry and should take into account patients' preferences regarding how they are addressed by professionals.


Assuntos
Deficiências da Aprendizagem/psicologia , Satisfação do Paciente/estatística & dados numéricos , Autoimagem , Identificação Social , Terminologia como Assunto , Adulto , Atitude Frente a Saúde , Feminino , Humanos , Pacientes Internados/psicologia , Pacientes Internados/estatística & dados numéricos , Masculino , Relações Profissional-Paciente , Inquéritos e Questionários
4.
Arch Gen Psychiatry ; 62(12): 1360-5, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16330724

RESUMO

CONTEXT: Down syndrome (DS) is the most common genetic cause of mental retardation. However, the biological determinants of this are poorly understood. The serum sodium/myo-inositol cotransporter gene is located on chromosome 21, and myo-inositol affects neuronal survival and function. Nevertheless, few in vivo studies have examined the role of myo-inositol in DS. OBJECTIVE: To determine if people with DS have significant differences in brain myo-inositol concentration from controls and if, within people with DS, this is related to cognitive ability. DESIGN: A case-control study. SETTING: Outpatient. PARTICIPANTS: The sample was composed of 38 adults with DS without dementia (age range, 18-66 years) and 42 healthy controls (age range, 19-66 years). The DS and control groups did not differ significantly in age, sex, ethnic origin, apolipoprotein E status, or handedness. MAIN OUTCOME MEASURES: Hippocampal myo-inositol concentration and cognitive performance, as measured by the Cambridge Cognitive Examination. RESULTS: Hippocampal myo-inositol concentration was significantly higher in people with DS than in controls (P = .006), and within people with DS, increased myo-inositol concentration was significantly negatively correlated with overall cognitive ability (P = .04). CONCLUSIONS: Adults with DS have a significantly increased brain concentration of myo-inositol, and this is associated with reduced cognitive ability. Future studies are required to relate myo-inositol concentration in people with DS to brain development and increased risk for developing Alzheimer disease.


Assuntos
Síndrome de Down/diagnóstico , Hipocampo/química , Inositol/análise , Espectroscopia de Ressonância Magnética/estatística & dados numéricos , Testes Psicológicos/estatística & dados numéricos , Adulto , Assistência Ambulatorial , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Prótons
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