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1.
Intern Med J ; 54(3): 503-510, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38251817

RESUMO

The Australian Commission of Safety and Quality in Health Care mandates the application of the eight National Safety and Quality Health Service Standards to minimise high-risk adverse events in hospital settings for all Australian patients. It acknowledges that adults with intellectual disability require reasonable adjustments to the application of the standards to optimise the impact of the quality and safety measures for this group. The paper proposes a system whereby reasonable adjustments can be developed for this population. First, particular criteria, items or actions of a standard are selected for the formulation of reasonable adjustments. Second, the adjustments are broken down into categories of alterations to usual knowledge, process, content and organisation involved in compliance with the chosen aspect of the standard. Third, the categories of reasonable adjustments are simultaneously influenced and shaped by aspects of living with intellectual disability, disability supports and a health-disability sectoral interface.


Assuntos
Deficiência Intelectual , Adulto , Humanos , Deficiência Intelectual/epidemiologia , Austrália/epidemiologia , Hospitais , Pacientes , Serviços de Saúde
2.
Intern Med J ; 51(11): 1963-1968, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34796628

RESUMO

Contemporary disability principles and values suggest that adults with intellectual disability should be able to access and participate in any mainstream service rather than having a separate service for them. In the case of healthcare services, achievement of optimal access to and participation in healthcare by adults with intellectual disability requires the presence of both adequate disability supports for the person and reasonable adjustments to generic health systems to enable a person-centred approach to care. Development of an interface between people with lived experience of intellectual disability, disability and health sectors help clarify the required nature of disability supports and types of adjustments to mainstream health services. The article describes a case study of an adult with intellectual disability with a serious illness warranting palliative care, and focusses on the reasonable adjustments to mainstream core palliative care principles for adults with intellectual disability.


Assuntos
Deficiência Intelectual , Cuidados Paliativos , Adulto , Atenção à Saúde , Humanos , Deficiência Intelectual/terapia
3.
Intern Med J ; 48(3): 351-359, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29512328

RESUMO

Preventable poor health outcomes for adults with intellectual disability in health settings have been known about for years. Subsequent analysis and the sorts of reasonable adjustments required in health and disability support settings to address these health gaps are well described, but have not really been embedded in practice in any significant way in either setting. As far as health is concerned, implementation of the National Disability Insurance Scheme (NDIS, the Scheme) affords an opportunity to recognise individual needs of people with intellectual disability to provide reasonable and necessary functional support for access to mainstream health services, to build capacity of mainstream health providers to supply services and to increase individual capacity to access services. Together these strands have potential to transform health outcomes. Success of the Scheme, however, rests on as yet incompletely defined operational interaction between NDIS and mainstream health services and inherently involves the disability sector. This interaction is especially relevant for adults with intellectual disability, known high users of hospitals and for whom hospital outcomes are particularly poor and preventable. Keys to better hospital outcomes are first, the receiving of quality person-centred healthcare from physicians and hospitals taking into account significance of intellectual disability and second, formulation of organised quality functional supports during hospitalisation. Achieving these require sophisticated engagement between consumers, the National Disability Insurance Agency, Commonwealth, State and Territory government leaders, senior hospital and disability administrators, NDIS service providers and clinicians and involves cross fertilisation of values, sharing of operational policies and procedures, determination of boundaries of fiscal responsibility for functional supports in hospital.


Assuntos
Nível de Saúde , Hospitais/tendências , Seguro por Deficiência/tendências , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/terapia , Atividades Cotidianas , Adulto , Austrália/epidemiologia , Hospitalização/economia , Hospitalização/tendências , Humanos , Seguro por Deficiência/economia , Deficiência Intelectual/economia , Qualidade da Assistência à Saúde/economia , Qualidade da Assistência à Saúde/tendências
4.
Clin Case Rep ; 12(8): e9214, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39077724

RESUMO

It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.

6.
Alzheimers Res Ther ; 3(2): 13, 2011 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-21542885

RESUMO

The clinical and scientific study of dementia in adults with Down syndrome led to the development of the amyloid hypothesis as a fundamental concept in Alzheimer's disease pathogenesis. The journey started with the discovery of the structure and metabolic processing of ß-amyloid brain deposits associated with Alzheimer's dementia in adults with Down syndrome, and then the prediction and confirmation of the amyloid precursor protein gene on chromosome 21. The processes and genes responsible for tau hyperphosphorylation contributing to toxic brain deposits were additionally identified. With increasing sophistication in genetic experimental techniques, additional mechanisms associated with excessive amyloid deposits were postulated and tested in brains of people with Down syndrome and Alzheimer's disease and in those with early-onset Alzheimer's disease. This in turn led to the proposal and testing for particular genetic defects associated with familial early-onset Alzheimer's disease. Nearly 200 genetic causes of early-onset types of Alzheimer's disease have since been identified. Only a minority of these causes are on chromosome 21, although the aetiology of excess amyloid production remains fundamental to their pathogenesis. Knowledge of the pathogenic mechanisms of Alzheimer's disease in predisposed families and in people with Down syndrome is a step closer to prevention or cure of this devastating disease.

7.
J Intellect Dev Disabil ; 33(1): 48-58, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18300167

RESUMO

BACKGROUND: Little is known about the cardiovascular disease (CVD) risk factor profile for older adults with intellectual disability (ID). As many CVD risk factors are treatable by lifestyle changes, confirmation of the risk factor profile for older adults with ID could substantially impact upon preventive health practices for this group. METHOD: Medical charts of all adults aged 40 years or over attending a specialised ageing clinic for adults with ID between January 2002 and June 2005 were reviewed. RESULTS: Overall, 155 adults' charts were reviewed and 8 (5%) had diagnosed CVD. Risk factor assessments found 18% with hypertension (of 73% checked), 8% with elevated glucose (of 97% checked), 27% with elevated total cholesterol (of 94% checked), 70% overweight or obese (of 55% checked), 11% current or ex-smokers (100% checked), and 96% with inadequate daily exercise (100% checked). Only the prevalence of hypertension and smoking increased significantly with age. CONCLUSION: Apart from lack of exercise (which was much more prevalent than for the general population) and overweight or obesity, the overall CVD risk factor profile of supported older adults with ID appears generally more favourable compared to the age-matched general population, although the occurrence of all risk factors is still common. Healthy lifestyle programs for this population should focus on implementation of exercise and nutrition strategies.


Assuntos
Doenças Cardiovasculares/epidemiologia , Avaliação Geriátrica/estatística & dados numéricos , Deficiência Intelectual/epidemiologia , Auditoria Médica , Adulto , Fatores Etários , Idoso , Doenças Cardiovasculares/prevenção & controle , Estudos Transversais , Exercício Físico , Feminino , Humanos , Hipercolesterolemia/epidemiologia , Hipercolesterolemia/prevenção & controle , Hipertensão/epidemiologia , Hipertensão/prevenção & controle , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Obesidade/prevenção & controle , Sobrepeso/epidemiologia , Sobrepeso/prevenção & controle , Estado Pré-Diabético/epidemiologia , Estado Pré-Diabético/prevenção & controle , Queensland , Estudos Retrospectivos , Fatores de Risco , Fumar/efeitos adversos , Fumar/epidemiologia
8.
Adv Urol ; : 193694, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18604290

RESUMO

Priapism is a urological emergency with multiple aetiologies including drug induced. Currently, there have been no reports of priapism induced by the combination of ecstasy and marijuana. We speculated on the potential mechanisms for acute drug-induced priapism resulting from ingestion of these two common illicit drugs.

9.
J Intellect Dev Disabil ; 32(1): 45-50, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17365367

RESUMO

BACKGROUND: Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions. METHOD: In a hospital-based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions. RESULTS: From January 2003 to March 2005, 57 patients attended the clinic, average age 37 years (SD = 13, range 17-63), 34(60%) male, and 12(21%) with a history of institutionalisation. Of these, 56 were found to have at least one gastrointestinal concern. Of the genotypic conditions, the prevalence was as follows: 6(12%) of 51 tested had likely celiac disease, 1(2%) had achalasia, 1(2%) inflammatory bowel disease, 1(2%) cholelithiasis, 2(4%) unexplained abnormal liver function tests, 1(2%) extrinsic oesophageal compression, and 5(9%) gastro-oesophageal reflux. Of the environmental conditions, 29(67%) of 43 tested had H. pylori infection; 13(25%) of 53 tested had hepatitis B infection (including 2 HbsAg positive, 0 HbeAg positive), 22(42%) non-immune and 4(7%) not tested; 17(36%) of 47 tested were immune to hepatitis A, 30(64%) non-immune and 10(18%) not tested. Of the conditions of uncertain link with Down syndrome, 11(19%) of the 57 patients had unexplained constipation; 11(19%) had unexplained chronic diarrhoea; 1(2%) had haemochromatosis; and 39(68%) presented with overnutrition. CONCLUSION: On specific enquiry, a majority of adults with DS have a gastrointestinal condition. As many of the conditions require hospital services, specially designed protocols in this setting should be developed.


Assuntos
Síndrome de Down/complicações , Gastroenteropatias/epidemiologia , Ambulatório Hospitalar , Adolescente , Adulto , Feminino , Gastroenterologia , Gastroenteropatias/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade
10.
J Clin Microbiol ; 41(10): 4700-4, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14532206

RESUMO

Helicobacter pylori infection is common among adults with intellectual disability. The acceptabilities and accuracies of different diagnostic tests in this population are unknown. We aimed to determine (i) patient acceptability and (ii) performance characteristics of serology, fecal-antigen, and urea breath tests among adults with intellectual disability. One hundred sixty-eight such adults underwent H. pylori testing with serology and fecal-antigen tests, and a portion underwent treatment. One year later, the participants were retested with fecal-antigen, serology, and urea breath tests. The numbers of specimens obtained and difficulties in collection reported by caregivers were noted. Test performance characteristics were assessed among participants and 65 of their caregivers, using serology as the reference. All participants provided at least one specimen, despite reported collection difficulties for 23% of fecal and 27% of blood specimens. Only 25% of the participants provided breath specimens; failure to perform this test was associated with lower intellectual ability and higher maladaptive behavior. The sensitivity, specificity, and positive and negative predictive values of the fecal test (baseline and 12 months versus caregivers) were 70 and 63 versus 81, 93 and 95 versus 98, 96 and 92 versus 93, and 53 and 74 versus 93%, respectively; those of the urea breath test (12 months versus caregivers) were 86 versus 100, 88 versus 95, 75 versus 89, and 94 versus 100%, respectively. With assistance, fecal or blood specimens for H. pylori assessment can be provided by most patients with intellectual disability regardless of their level of function or behavior. Only those with greater ability can perform the urea breath test. Using serology as the reference test, the limitations of performance characteristics of the fecal-antigen and urea breath tests are similar to those among a control group of caregivers.


Assuntos
Infecções por Helicobacter/diagnóstico , Helicobacter pylori/isolamento & purificação , Deficiência Intelectual/complicações , Adulto , Anticorpos Antibacterianos/sangue , Antígenos de Bactérias/análise , Testes Respiratórios , Cuidadores , Fezes/microbiologia , Infecções por Helicobacter/complicações , Infecções por Helicobacter/microbiologia , Helicobacter pylori/imunologia , Humanos , Valor Preditivo dos Testes , Fatores de Risco , Sensibilidade e Especificidade , Ureia
11.
Am J Med Genet A ; 120A(2): 191-8, 2003 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-12833399

RESUMO

Dementia of the Alzheimer type (DAT) is common in older persons with Down syndrome (DS). There are three common alleles of the apolipoprotein E (ApoE) gene (Sigma 2, Sigma 3, and Sigma 4) resulting in three different isoforms (E2, E3, and E4) and six different genotypes (2,2; 2,3; 2,4; 3,3; 3,4; and 4,4). Sigma 4 is a risk factor for DAT whereas Sigma 2 appears prophylactic. As hepatitis B virus (HBV) infection and hypothyroidism also are common in DS, we evaluated associations between ApoE type, HBV status, and thyroid status in a sample of older persons with DS (n = 55; mean age, 44.3 +/- 10.8 years) using chi-squared analysis. Participants were classified as E2 (2,2 or 2,3), E3 (3,3), or E4 (3,4 or 4,4); positive for markers of HBV infection in the present or past (i.e., total HBcAb+ and/or HBsAg+ with or without infectivity, defined as HBV+) or negative for markers of HBV infection (defined as HBV-) and, currently receiving thyroid hormone supplement (defined as "hypothyroidism") or having normal thyroid function. The majority of the HBV+ were currently HBcAb+ and HBsAb+, but not HBsAg+. In females, there was an ApoE allele effect on thyroid status (P < or = 0.01), E2 being negatively (P < or = 0.01) and E4 being positively (P < or = 0.05) associated with "hypothyroidism". There was no evidence for an ApoE allele effect on thyroid status in males. There was no evidence for an ApoE allele effect on HBV status, or for an HBV status effect on thyroid status. As thyroid status can affect cognitive function, ApoE allele effects in DAT may, in part, be thyroid effects.


Assuntos
Apolipoproteínas E/genética , Síndrome de Down/complicações , Síndrome de Down/genética , Hepatite B/complicações , Glândula Tireoide/fisiologia , Adulto , Feminino , Genótipo , Anticorpos Anti-Hepatite B/sangue , Antígenos de Superfície da Hepatite B/sangue , Vírus da Hepatite B/imunologia , Humanos , Hipotireoidismo/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Isoformas de Proteínas/genética , Fatores Sexuais , Tireotropina/sangue
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