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1.
Ned Tijdschr Geneeskd ; 1632019 02 19.
Artigo em Holandês | MEDLINE | ID: mdl-30816663

RESUMO

When people with a mental disability fail to conceive naturally, they also like to be considered for fertility treatment. However, the GP, gynaecologist or fertility specialist may question their parenting competence. Physicians may and can refuse fertility treatment if they have reasons to suspect that the child will have a poor quality of life. We are using a case history to outline how a well-considered multidisciplinary recommendation can be made that does justice to the patient's request while causing the least amount of grief. The guiding principle in doing so is the moral consideration that the harm to the future child should not outweigh the harm to the parents.


Assuntos
Aconselhamento , Infertilidade/terapia , Pessoas com Deficiência Mental , Adulto , Feminino , Humanos , Equipe de Assistência ao Paciente , Recusa em Tratar/ética
2.
Dev Disabil Res Rev ; 18(1): 6-16, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23949824

RESUMO

Increases in the life expectancy of people with Intellectual Disability have followed similar trends to those found in the general population. With the exception of people with severe and multiple disabilities or Down syndrome, the life expectancy of this group now closely approximates with that of the general population. Middle and old age, which until 30 years ago were not recognized in this population, are now important parts of the life course of these individuals. Older adults with Intellectual Disabilities form a small, but significant and growing proportion of older people in the community. How these persons grow older and how symptoms and complications of the underlying cause of the Intellectual Disability will influence their life expectancy is of the utmost importance.


Assuntos
Envelhecimento , Deficiências do Desenvolvimento , Deficiência Intelectual , Expectativa de Vida , Adulto , Idoso , Idoso de 80 Anos ou mais , Síndrome de Angelman , Paralisia Cerebral , Síndrome de Cornélia de Lange , Síndrome de Down , Síndrome do Cromossomo X Frágil , Humanos , Pessoa de Meia-Idade , Mucopolissacaridose III , Fenilcetonúrias , Síndrome de Prader-Willi , Síndrome de Rett , Esclerose Tuberosa , Síndrome de Williams
3.
Amino Acids ; 38(3): 923-8, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19455393

RESUMO

Subjects with Down syndrome (DS) have abnormalities in virtually all aspects of the immune system and almost all will be affected with Alzheimer's disease (AD). It is thought that nitric oxide (NO) is involved in the pathophysiology of AD. In the present study, including a total of 401 elderly DS subjects, the spectrum of plasma amino acids and neopterin was investigated and related to development of AD. Concentrations of nearly all amino acids in DS subjects differed significantly from those of healthy controls. Neopterin was increased in DS subjects, especially in dementia. The production of NO as reflected by an increased citrulline/arginine ratio (Cit/Arg ratio) was enhanced during development of clinical dementia. Neopterin concentrations correlated to the Cit/Arg ratio only in the group of prevalent demented subjects (rho = 0.48, P = 0.006). The results of this study are suggestive for an increase in oxidative processes in DS subjects with AD.


Assuntos
Aminoácidos/sangue , Demência/sangue , Síndrome de Down/sangue , Neopterina/sangue , Óxido Nítrico/metabolismo , Doença de Alzheimer/sangue , Doença de Alzheimer/complicações , Aminoácidos/metabolismo , Aminoácidos Aromáticos/sangue , Aminoácidos de Cadeia Ramificada/sangue , Arginina/sangue , Citrulina/sangue , Estudos de Coortes , Demência/complicações , Demência/epidemiologia , Depressão/sangue , Depressão/complicações , Depressão/tratamento farmacológico , Síndrome de Down/complicações , Síndrome de Down/fisiopatologia , Epilepsia/sangue , Epilepsia/complicações , Epilepsia/tratamento farmacológico , Feminino , Humanos , Deficiência Intelectual/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estresse Oxidativo , Índice de Gravidade de Doença
4.
Neurobiol Aging ; 29(6): 828-35, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17250929

RESUMO

Apolipoprotein E (APOE) is consistently associated with dementia in the general population. Findings on the role of this gene in persons with Down's syndrome (DS) are inconclusive. We studied the effects of APOE on mortality and dementia in a longitudinal prospective study of a large population-based sample of persons with DS (n=425), demented and non-demented. There was evidence that APOE epsilon4 is correlated with the rate of decline in the social competence rating scale (SRZ) (p=0.04). In our population, we found overall a modest but not statistical significant effect on the prevalence of dementia (OR=1.57, 95%CI: 0.87-2.82). We did observed a significant long-term effect on the incidence of dementia (HR=4.66, 95%CI: 1.35-16.14), but for those with a follow-up less than 3 years the risk was not significantly increased: HR=0.83 (95%CI 0.35-1.94). When pooling our data in a meta-analysis, the APOE epsilon4 allele shows a 1.59-fold (95%CI: 1.19-2.12) increase in risk of dementia in persons with DS. We conclude that APOE is influencing the risk of dementia in persons with DS.


Assuntos
Apolipoproteínas E/genética , Demência/epidemiologia , Demência/genética , Síndrome de Down/epidemiologia , Síndrome de Down/genética , Medição de Risco/métodos , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Prevalência , Fatores de Risco
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