Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 6 de 6
Filtrar
1.
J Intellect Disabil Res ; 64(11): 825-833, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32939917

RESUMO

BACKGROUND: COVID-19 restrictions have significantly limited access to in-person educational and healthcare services for all, including individuals with intellectual and developmental disabilities (IDDs). The objectives of this online survey that included both national and international families were to capture changes in access to healthcare and educational services for individuals with IDDs that occurred shortly after restrictions were initiated and to survey families on resources that could improve services for these individuals. METHODS: This was an online survey for caregivers of individuals with (1) a genetic diagnosis and (2) a neurodevelopmental diagnosis, including developmental delay, intellectual disability, autism spectrum disorder or epilepsy. The survey assessed (1) demographics, (2) changes in access to educational and healthcare services and (3) available and preferred resources to help families navigate the changes in service allocation. RESULTS: Of the 818 responses (669 within the USA and 149 outside of the USA), most families reported a loss of at least some educational or healthcare services. Seventy-four per cent of parents reported that their child lost access to at least one therapy or education service, and 36% of respondents lost access to a healthcare provider. Only 56% reported that their child received at least some continued services through tele-education. Those that needed to access healthcare providers did so primarily through telemedicine. Telehealth (both tele-education and telemedicine) was reported to be helpful when available, and caregivers most often endorsed a need for an augmentation of these remote delivery services, such as 1:1 videoconference sessions, as well as increased access to 1:1 aides in the home. CONCLUSIONS: COVID-19 restrictions have greatly affected access to services for individuals with syndromic IDDs. Telehealth may provide opportunities for delivery of care and education in a sustainable way, not only as restrictions endure but also after they have been lifted.

2.
BMC Med ; 16(1): 101, 2018 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-29961422

RESUMO

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a worldwide prevalence of 1-2%. In low-resource environments, in particular, early identification and diagnosis is a significant challenge. Therefore, there is a great demand for 'language-free, culturally fair' low-cost screening tools for ASD that do not require highly trained professionals. Electroencephalography (EEG) has seen growing interest as an investigational tool for biomarker development in ASD and neurodevelopmental disorders. One of the key challenges is the identification of appropriate multivariate, next-generation analytical methodologies that can characterise the complex, nonlinear dynamics of neural networks in the brain, mindful of technical and demographic confounders that may influence biomarker findings. The aim of this study was to evaluate the robustness of recurrence quantification analysis (RQA) as a potential biomarker for ASD using a systematic methodological exploration of a range of potential technical and demographic confounders. METHODS: RQA feature extraction was performed on continuous 5-second segments of resting state EEG (rsEEG) data and linear and nonlinear classifiers were tested. Data analysis progressed from a full sample of 16 ASD and 46 typically developing (TD) individuals (age 0-18 years, 4802 EEG segments), to a subsample of 16 ASD and 19 TD children (age 0-6 years, 1874 segments), to an age-matched sample of 7 ASD and 7 TD children (age 2-6 years, 666 segments) to prevent sample bias and to avoid misinterpretation of the classification results attributable to technical and demographic confounders. A clinical scenario of diagnosing an unseen subject was simulated using a leave-one-subject-out classification approach. RESULTS: In the age-matched sample, leave-one-subject-out classification with a nonlinear support vector machine classifier showed 92.9% accuracy, 100% sensitivity and 85.7% specificity in differentiating ASD from TD. Age, sex, intellectual ability and the number of training and test segments per group were identified as possible demographic and technical confounders. Consistent repeatability, i.e. the correct identification of all segments per subject, was found to be a challenge. CONCLUSIONS: RQA of rsEEG was an accurate classifier of ASD in an age-matched sample, suggesting the potential of this approach for global screening in ASD. However, this study also showed experimentally how a range of technical challenges and demographic confounders can skew results, and highlights the importance of probing for these in future studies. We recommend validation of this methodology in a large and well-matched sample of infants and children, preferably in a low- and middle-income setting.


Assuntos
Transtorno do Espectro Autista/diagnóstico por imagem , Biomarcadores/química , Eletroencefalografia/métodos , Adolescente , Transtorno do Espectro Autista/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
3.
Brain Res Mol Brain Res ; 43(1-2): 117-31, 1996 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-9037525

RESUMO

The expression of sodium channel alpha-, beta 1- and beta 2-subunit mRNAs was examined in adult rat DRG neurons in dissociated culture at 1 day in vitro and within sections of intact ganglia by in situ hybridization and reverse transcription polymerase chain reaction (RT-PCR). The results demonstrate that sodium channel alpha-subunit mRNAs are differentially expressed in small (< 25 microns diam), medium (25-45 microns diam.) and large (> 45 microns diam.) cultured DRG neurons at 1 day in vitro (div). Sodium channel mRNA I is expressed at higher levels in large neurons than small DRG neurons, while sodium channel mRNA II is variably expressed, with most cells lacking or exhibiting low levels of detectable signal of these mRNAs and limited numbers of neurons with moderate expression levels. DRG neurons generally exhibit negligible or low levels of hybridization signal for sodium channel mRNA III. Sodium channel mRNAs Na6 and NaG show similar patterns of expression, with most large and many medium DRG neurons exhibiting high levels of expression. The mRNA for the rat cognate of human sodium channel hNE-Na is detected in virtually every DRG neuron; most cells in all size classes exhibit moderate or high levels of hNE-Na expression. Sodium channel SNS mRNA is expressed in all size classes of DRG neurons, but shows greater expression in small and medium DRG neurons than in large neurons. The mRNA for the rat cognate of mouse sodium channel mNa 2.3 is not detected, or is detected at low levels, in most DRG neurons, regardless of size, although moderate expression is detected in some neurons. Sodium channel beta 1- and beta 2-subunit mRNAs exhibit similar expression patterns; they are detected in most DRG neurons, although the level of expression tends to be greater in large neurons than in small neurons. RT-PCR and in situ hybridization of intact adult DRG showed a similar pattern of expression of sodium channel mRNAs to that observed in DRG neurons in vitro. These results demonstrate that adult DRG neurons express multiple sodium channel mRNAs in vitro and in situ and suggest a molecular basis for the biophysical heterogeneity of sodium currents observed in these cells.


Assuntos
Gânglios Espinais/metabolismo , RNA Mensageiro/metabolismo , Canais de Sódio/metabolismo , Animais , Células Cultivadas , Feminino , Hibridização In Situ , Camundongos , Ratos , Ratos Sprague-Dawley
4.
Encephale ; 14 Spec No: 251-5, 1988 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-2905652

RESUMO

Neuroleptics remain useful in the treatment of schizophrenia, but tardive dyskinesia (TD) is a recognized serious side effect of long-term neuroleptic use in adults and children. Lack of proven effective treatment for TD makes prevention of TD a focus of clinical attention. In order to provide guidelines for the clinician, the literature regarding epidemiological risk factors for TD is reviewed. Clinical strategies for prevention of TD are discussed based on principles of: 1) being aware of risk factors for TD; 2) evaluating neuroleptic treatment; and 3) detecting early TD. The importance of patient participation in the clinical decision for long-term neuroleptic therapy cannot be overstressed.


Assuntos
Antipsicóticos/efeitos adversos , Discinesia Induzida por Medicamentos/prevenção & controle , Adulto , Criança , Discinesia Induzida por Medicamentos/etiologia , Humanos , Fatores de Risco
5.
Clin Infect Dis ; 33(5): 710-7, 2001 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-11486294

RESUMO

We assessed the relationship between dietary intake, body composition, and metabolic parameters in 85 consecutive human immunodeficiency virus (HIV)-infected patients with fat redistribution. Dietary history and values for fasting glucose, insulin, lipids, and oral glucose tolerance were obtained for 62 men and 23 women with HIV infection and fat redistribution (mean age +/- standard error of the mean [SEM], 43.5+/-0.9 years; mean body mass index [BMI] +/- SEM, 26.3+/-0.5 kg/m2). A multivariate regression analysis was used to predict insulin area under the curve (AUC) following the oral glucose tolerance test; this included age, sex, BMI, waist-to-hip ratio, kilocalories, duration of protease inhibitor (PI) use, fat redistribution pattern, alcohol intake, dietary fiber intake, and polyunsaturated-to-saturated (P:S) fat ratio. Only age (P=.004), PI use duration (P=.02), and P:S fat ratio (P=.003) were positively associated with insulin AUC. Dietary fiber intake was inversely associated with the insulin AUC (P=.001). In a similar analysis, alcohol consumption was a significant positive predictor of low-density lipoprotein cholesterol. Polyunsaturated fats, fiber, and alcohol are strongly associated with insulin resistance and hyperlipidemia in this population and may be important targets for dietary modification.


Assuntos
Tecido Adiposo/patologia , Comportamento Alimentar , Infecções por HIV/dietoterapia , Infecções por HIV/metabolismo , Tecido Adiposo/metabolismo , Adulto , Consumo de Bebidas Alcoólicas/metabolismo , Composição Corporal , Índice de Massa Corporal , Estudos de Casos e Controles , Ingestão de Energia , Feminino , Glucose/metabolismo , Infecções por HIV/patologia , Humanos , Insulina/metabolismo , Metabolismo dos Lipídeos , Masculino
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA