Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 60
Filtrar
1.
Nat Med ; 2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-38965435

RESUMO

Differential diagnosis of dementia remains a challenge in neurology due to symptom overlap across etiologies, yet it is crucial for formulating early, personalized management strategies. Here, we present an artificial intelligence (AI) model that harnesses a broad array of data, including demographics, individual and family medical history, medication use, neuropsychological assessments, functional evaluations and multimodal neuroimaging, to identify the etiologies contributing to dementia in individuals. The study, drawing on 51,269 participants across 9 independent, geographically diverse datasets, facilitated the identification of 10 distinct dementia etiologies. It aligns diagnoses with similar management strategies, ensuring robust predictions even with incomplete data. Our model achieved a microaveraged area under the receiver operating characteristic curve (AUROC) of 0.94 in classifying individuals with normal cognition, mild cognitive impairment and dementia. Also, the microaveraged AUROC was 0.96 in differentiating the dementia etiologies. Our model demonstrated proficiency in addressing mixed dementia cases, with a mean AUROC of 0.78 for two co-occurring pathologies. In a randomly selected subset of 100 cases, the AUROC of neurologist assessments augmented by our AI model exceeded neurologist-only evaluations by 26.25%. Furthermore, our model predictions aligned with biomarker evidence and its associations with different proteinopathies were substantiated through postmortem findings. Our framework has the potential to be integrated as a screening tool for dementia in clinical settings and drug trials. Further prospective studies are needed to confirm its ability to improve patient care.

2.
MicroPubl Biol ; 20242024.
Artigo em Inglês | MEDLINE | ID: mdl-38681673

RESUMO

Genetic screens are valuable for identifying novel genes involved in the regulation of developmental processes. To identify genes associated with cell growth regulation in Drosophila melanogaster , a mutagenesis screen was performed. Undergraduate students participating in Fly-CURE phenotypically characterized the E.4.1 mutant which is associated with rough eyes and antennae overgrowth. Following complementation analysis and subsequent genomic sequencing, E.4.1 was identified as a novel mutant allele of GstE14 , a gene involved in ecdysone biosynthesis important for the timing of developmental events. The abnormal eye and antenna phenotypes observed resulting from the loss of GstE14 suggest its role in tissue growth.

3.
medRxiv ; 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38585870

RESUMO

Differential diagnosis of dementia remains a challenge in neurology due to symptom overlap across etiologies, yet it is crucial for formulating early, personalized management strategies. Here, we present an AI model that harnesses a broad array of data, including demographics, individual and family medical history, medication use, neuropsychological assessments, functional evaluations, and multimodal neuroimaging, to identify the etiologies contributing to dementia in individuals. The study, drawing on 51,269 participants across 9 independent, geographically diverse datasets, facilitated the identification of 10 distinct dementia etiologies. It aligns diagnoses with similar management strategies, ensuring robust predictions even with incomplete data. Our model achieved a micro-averaged area under the receiver operating characteristic curve (AUROC) of 0.94 in classifying individuals with normal cognition, mild cognitive impairment and dementia. Also, the micro-averaged AUROC was 0.96 in differentiating the dementia etiologies. Our model demonstrated proficiency in addressing mixed dementia cases, with a mean AUROC of 0.78 for two co-occurring pathologies. In a randomly selected subset of 100 cases, the AUROC of neurologist assessments augmented by our AI model exceeded neurologist-only evaluations by 26.25%. Furthermore, our model predictions aligned with biomarker evidence and its associations with different proteinopathies were substantiated through postmortem findings. Our framework has the potential to be integrated as a screening tool for dementia in various clinical settings and drug trials, with promising implications for person-level management.

4.
Clin Obstet Gynecol ; 66(4): 864-883, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-37910097

RESUMO

Multiple gestations experience a slowing of fetal growth in the third trimester and have been described as having a higher risk of growth restriction. Whether this increased diagnosis of fetal growth restriction is physiological or pathologic is controversial. In an attempt to better identify those fetuses most at risk, twin-specific growth charts have been developed and tested. In addition, there are data to suggest that multiple gestations experience an increased risk of unexpected third-trimester stillbirth in apparently uncomplicated pregnancies. This chapter reviews the current data and recommendations for fetal growth assessment, antenatal surveillance, and delivery timing in uncomplicated multiple gestations.


Assuntos
Desenvolvimento Fetal , Gravidez Múltipla , Gravidez , Feminino , Humanos , Diagnóstico Pré-Natal , Natimorto , Retardo do Crescimento Fetal/diagnóstico , Ultrassonografia Pré-Natal , Gravidez de Gêmeos , Idade Gestacional
5.
JMIR Res Protoc ; 12: e46735, 2023 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-37698915

RESUMO

BACKGROUND: Children with neurodevelopmental disorders have a high risk of sleep disturbances, with insomnia being the most common sleep disorder (ie, chronic and frequent difficulties with going and staying asleep). Insomnia adversely affects the well-being of these children and their caregivers. Pediatric sleep experts recommend behavioral interventions as the first-line treatment option for children. Better Nights, Better Days for Children with Neurodevelopmental Disorders (BNBD-NDD) is a 5-session eHealth behavioral intervention delivered to parents to improve outcomes (eg, Pediatric Quality of Life Inventory [PedsQL]) for their children (ages 4-12 years) with insomnia and who have a diagnosis of mild to moderate attention-deficit/hyperactivity disorder, autism spectrum disorder, cerebral palsy, or fetal alcohol spectrum disorder. If cost-effective, BNBD-NDD can be a scalable intervention that provides value to an underserved population. OBJECTIVE: This protocol outlines an economic evaluation conducted alongside the BNBD-NDD randomized controlled trial (RCT) that aims to assess its costs, efficacy, and cost-effectiveness compared to usual care. METHODS: The BNBD-NDD RCT evaluates the impacts of the intervention on children's sleep and quality of life, as well as parents' daytime functioning and psychosocial health. Parent participants were randomized to the BNBD-NDD treatment or to usual care. The economic evaluation assesses outcomes at baseline and 8 months later, which include the PedsQL as the primary measure. Quality of life outcomes facilitate the comparison of competing interventions across different populations and medical conditions. Cost items include the BNBD-NDD intervention and parent-reported usage of private and publicly funded resources for their children's insomnia. The economic evaluation involves a reference case cost-effectiveness analysis to examine the incremental cost of BNBD-NDD per units gained in the PedsQL from the family payer perspective and a cost-consequence analysis from a societal perspective. These analyses will be conducted over an 8-month time horizon. RESULTS: Research funding was obtained from the Kids Brain Health Network in 2015. Ethics were approved by the IWK Health Research Ethics Board and the University of Calgary Conjoint Health Research Ethics Board in January 2019 and June 2022, respectively. The BNBD-NDD RCT data collection commenced in June 2019 and ended in April 2022. The RCT data are currently being analyzed, and data relevant to the economic analysis will be analyzed concurrently. CONCLUSIONS: To our knowledge, this will be the first economic evaluation of an eHealth intervention for insomnia in children with neurodevelopmental disorders. This evaluation's findings can inform users and stakeholders regarding the costs and benefits of BNBD-NDD. TRIAL REGISTRATION: ClinicalTrial.gov NCT02694003; https://clinicaltrials.gov/study/NCT02694003. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/46735.

6.
J Neurol ; 270(5): 2409-2415, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36943516

RESUMO

BACKGROUND: Neurological symptoms are common manifestation in acute COVID-19. This includes hyper- and hypokinetic movement disorders. Data on their outcome, however, is limited. METHODS: Cases with new-onset COVID-19-associated movement disorders were identified by searching the literature. Authors were contacted for outcome data which were reviewed and analyzed. RESULTS: Movement disorders began 12.6 days on average after the initial onset of COVID-19. 92% of patients required hospital admission (mean duration 23 days). In a fraction of patients (6 of 27; 22%; 4 males/2 females, mean age 66.8 years) the movement disorder (ataxia, myoclonus, tremor, parkinsonism) was still present after a follow-up period of 7.5 ± 3 weeks. Severe COVID-19 in general and development of encephalopathy were risk factors, albeit not strong predictors, for the persistence. CONCLUSIONS: The prognosis of new-onset COVID-19-associated movement disorder appears to be generally good. The majority recovered without residual symptoms within several weeks or months. Permanent cases may be due to unmasking of a previous subclinical movement disorder or due to vascular/demyelinating damage. Given the relatively low response rate of one third only and the heterogeneity of mechanisms firm conclusions on the (long-term) outome cannot, however, be drawn.


Assuntos
COVID-19 , Transtornos dos Movimentos , Masculino , Feminino , Humanos , Idoso , COVID-19/complicações , Seguimentos , Transtornos dos Movimentos/etiologia , Fatores de Risco , Tremor/complicações
7.
Semin Neurol ; 43(1): 4-16, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36893797

RESUMO

In this manuscript, we review the epidemiology of movement disorders including Parkinson's disease (PD), atypical parkinsonism, essential tremor, dystonia, functional movement disorders, tic disorders, chorea, and ataxias. We emphasize age-, sex-, and geography-based incidence and prevalence, as well as notable trends including the rising incidence and prevalence of PD. Given the growing global interest in refining clinical diagnostic skills in recognizing movement disorders, we highlight some key epidemiological findings that may be of interest to clinicians and health systems tasked with diagnosing and managing the health of patients with movement disorders.


Assuntos
Coreia , Tremor Essencial , Transtornos dos Movimentos , Doença de Parkinson , Transtornos Parkinsonianos , Humanos , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/epidemiologia , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia , Transtornos Parkinsonianos/diagnóstico , Ataxia
8.
Aust Educ Res ; 50(2): 519-536, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-34566240

RESUMO

Access to quality career advice is important for economic, personal and equity reasons, yet, in many countries around the world, career-education provision is of varying quality and quantity within school settings. Given the inconsistencies in career-education resourcing and provision, what is not clearly understood is how students from low socioeconomic status (low SES) backgrounds experience career-education provision and the extent to which it shapes their post-school futures. Drawing on Australian research, this paper explores the career-education experiences of high-school students from low SES backgrounds. Bourdieu's tools of field, habitus and capital are used as a theoretical framework to understand how career education can influence students' imagining and achieving their career goals. The findings reported in this paper contribute nuanced understandings of career education to students from low SES backgrounds and recommends how all students can benefit from an embedded approach to career education in schools.

9.
Nat Commun ; 13(1): 3404, 2022 06 20.
Artigo em Inglês | MEDLINE | ID: mdl-35725739

RESUMO

Worldwide, there are nearly 10 million new cases of dementia annually, of which Alzheimer's disease (AD) is the most common. New measures are needed to improve the diagnosis of individuals with cognitive impairment due to various etiologies. Here, we report a deep learning framework that accomplishes multiple diagnostic steps in successive fashion to identify persons with normal cognition (NC), mild cognitive impairment (MCI), AD, and non-AD dementias (nADD). We demonstrate a range of models capable of accepting flexible combinations of routinely collected clinical information, including demographics, medical history, neuropsychological testing, neuroimaging, and functional assessments. We then show that these frameworks compare favorably with the diagnostic accuracy of practicing neurologists and neuroradiologists. Lastly, we apply interpretability methods in computer vision to show that disease-specific patterns detected by our models track distinct patterns of degenerative changes throughout the brain and correspond closely with the presence of neuropathological lesions on autopsy. Our work demonstrates methodologies for validating computational predictions with established standards of medical diagnosis.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Aprendizado Profundo , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/psicologia , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/patologia , Progressão da Doença , Humanos , Neuroimagem/métodos
10.
Infant Ment Health J ; 43(2): 266-286, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35170777

RESUMO

The growth in professional development for the infant-early childhood workforce has necessitated the implementation of novel, sustainable approaches to meet infant early childhood mental health (IECMH) training and reflective supervision consultation (RSC) needs. The 12-month pilot of a US statewide reflective consultation (RC) group model included IECMH consultants, grant specialists, supervisors, and program managers (n = 38) and their group reflective consultants (n = 6). The pilot evaluation provided an opportunity to design a study that assessed the impact of RC on infant-early childhood professionals. The mixed-methods study included an assessment of consultees' reflective practice skills and experience of their work. Findings included consultees' self-reported increased reflective practice self-efficacy and increased use of reflective practice skills. While there were no changes in the Maslach Burnout Inventory (MBI) personal accomplishment, emotional exhaustion, or depersonalization results, qualitative findings indicated a decrease in burnout and an increase in relationship-based practice across professional roles. This unique pilot provides an example of an organizational approach to instituting RC with a broad spectrum of infant-early childhood professionals and yields valuable information about the impacts of RC models on such professionals' work experience and professional practice.


El crecimiento en cuanto al desarrollo profesional para los trabajadores del área de infancia y temprana niñez ha necesitado de la implementación de acercamientos novedosos y sostenibles para cumplir con las necesidades de entrenamiento y consulta de supervisión con reflexión (RSC) del campo de la salud mental en la infancia y temprana niñez (IECMH). El plan piloto de 12 meses de un modelo de grupo de consulta con reflexión (RC) a lo largo y ancho de los estados de Estados Unidos incluyó consultores de IECMH, especialistas en fondos de financiación, supervisores y directores de programas (n = 38) y los consultores d reflexión de sus grupos (n = 6). L evaluación del plan piloto proveyó una oportunidad para diseñar un estudio que evaluara los impactos que RC tiene en los profesionales de infancia y temprana niñez. El estudio de métodos combinados incluyó una evaluación de las habilidades prácticas y experiencias reflexivas de trabajo de los consultantes. Los resultados incluyen los auto reportes de los consultantes sobre el aumento de la práctica reflexiva de auto eficacia y el aumento del uso de las habilidades de la práctica con reflexión. Aunque no se dieron cambios en cuanto a los logros personales, el agotamiento emocional o los resultados de despersonalización en el Inventario de Agotamiento de Maslach (MBI), los resultados cualitativos indicaron una baja en el agotamiento y un aumento en la práctica basada en la relación a lo largo de los roles profesionales. Este plan piloto único ofrece un ejemplo de un acercamiento organizacional para instituir RC con un enfoque amplio de los profesionales de la infancia y temprana niñez y aporta información de valor acerca de los impactos que los modelos RC tienen sobre las experiencias de trabajo y la práctica profesional de esos profesionales.


La croissance de la formation professionnelle pour les professionnels de la santé des nourrissons et de la petite enfance a nécessité la mise en place d'approches innovatrices et durables afin de remplir les besoins de formation et de consultation de supervision réflective (RSC) de la santé mentale du nourrisson et de la petite enfance (IECMH). Une étude pilote de 12 mois d'un modèle de groupe de consultation réflective (abrégé RC en anglaise) dans un état des Etats-Unis a inclus des consultants IECMH, des spécialistes des subventions, des superviseurs et des gestionnaires de programme (n = 38) et leurs consultants de groupe de réflexion (n = 6). Cette évaluation pilote a présenté l'opportunité de concevoir une étude évaluant les impacts de la RC sur les professionnels de la santé des nourrissons et de la petite enfance. Cette méthode d'étude mixte a inclus une évaluation des compétences en pratique réflective des personnes consultées et de leurs expériences de leur travail. Les résultats ont inclus une pratique d'auto-efficacité réflective plus élevée (auto-rapportée par les consultés) et une utilisation de compétences de pratique de réflexion plus élevée. Bien qu'il n'y ait pas eu de changements dans la réalisation personnelle, l'épuisement émotionnel ou les résultats de dépersonnalisation de l'Inventaire de Burnout de Maslach (MBI) les résultats qualitatifs ont indiqué une baisse du burnout et une augmentation de la pratique basée sur la relation au travers des rôles professionnels. Cette étude pilote unique offre un exemple d'une approche organisationnelle de l'institution de la RC avec un grand éventail de professionnels de la santé des nourrissons et de la petite enfance et offre des renseignements très utiles sur les impacts des modèles de RC sur l'expérience du travail de tels professionnels et leur pratique professionnelle.


Assuntos
Esgotamento Profissional , Serviços de Saúde Mental , Criança , Cuidado da Criança , Pré-Escolar , Pessoal de Saúde/psicologia , Humanos , Lactente , Encaminhamento e Consulta
11.
Nat Rev Neurol ; 18(2): 117-124, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34987232

RESUMO

Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing is increasingly performed in individuals with these diagnoses to inform prognosis, refine management and provide information about recurrence risk in the family. For neurogenetic conditions associated with intellectual disability and ASD, data on natural history in adults are scarce; however, as older adults with these disorders are identified, it is becoming clear that some conditions are associated with both neurodevelopmental problems and neurodegeneration. Moreover, emerging evidence indicates that some neurogenetic conditions associated primarily with neurodegeneration also affect neurodevelopment. In this Perspective, we discuss examples of diseases that have developmental and degenerative overlap. We propose that neurogenetic disorders should be studied continually across the lifespan to understand the roles of the affected genes in brain development and maintenance, and to inform strategies for treatment.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Idoso , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Testes Genéticos , Humanos , Deficiência Intelectual/diagnóstico , Longevidade
12.
J Pediatr Psychol ; 46(9): 1051-1062, 2021 09 27.
Artigo em Inglês | MEDLINE | ID: mdl-34472600

RESUMO

OBJECTIVE: The COVID-19 pandemic has the potential to disrupt the lives of families and may have implications for children with existing sleep problems. As such, we aimed to: (1) characterize sleep changes during the COVID-19 pandemic in children who had previously been identified as having sleep problems, (2) identify factors contributing to sleep changes due to COVID-19 safety measures, and (3) understand parents' and children's needs to support sleep during the pandemic. METHODS: Eighty-five Canadian parents with children aged 4-14 years participated in this explanatory sequential, mixed-methods study using an online survey of children's and parents' sleep, with a subset of 16 parents, selected based on changes in their children's sleep, participating in semi-structured interviews. Families had previously participated in the Better Nights, Better Days (BNBD) randomized controlled trial. RESULTS: While some parents perceived their child's sleep quality improved during the COVID-19 pandemic (14.1%, n = 12), many parents perceived their child's sleep had worsened (40.0%, n = 34). Parents attributed children's worsened sleep to increased screen time, anxiety, and decreased exercise. Findings from semi-structured interviews highlighted the effect of disrupted routines on sleep and stress, and that stress reciprocally influenced children's and parents' sleep. CONCLUSIONS: The sleep of many Canadian children was affected by the first wave of the COVID-19 pandemic, with the disruption of routines influencing children's sleep. eHealth interventions, such as BNBD with modifications that address the COVID-19 context, could help families address these challenges.


Assuntos
COVID-19 , Pandemias , Canadá , Criança , Humanos , Pais , SARS-CoV-2 , Sono
13.
Mov Disord ; 36(11): 2681-2687, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34415653

RESUMO

BACKGROUND: PLXNA1 encodes for Plexin-A, a transmembrane protein expressed in the developing nervous system. Mutations in this gene have been associated with developmental delay but have not been previously associated with the development of parkinsonism. OBJECTIVES: To describe the case of a 38-year-old patient with developmental delay who developed parkinsonism later in life. METHODS: Post-mortem exome sequencing was performed with confirmation by Sanger sequencing. Brain autopsy was also performed. RESULTS: Post-mortem exome sequencing on the proband identified a heterozygous predicted nonsense PLXNA1 variant (c.G3361T:p.Glu1121Ter). Pathology demonstrated arhinencephaly with brainstem heterotopia, diffuse Lewy body disease, and frontotemporal lobar dementia-tau. CONCLUSIONS: This case of a patient with developmental delay and parkinsonism with PLXNA1 mutation highlights a need for assessing long-term outcomes of individuals with neurodevelopmental disorders, as well as the need for genetic testing in adults. It also suggests that the link between PLXNA1 and α-synuclein should be explored in the future. © 2021 International Parkinson and Movement Disorder Society.


Assuntos
Demência Frontotemporal , Doença por Corpos de Lewy , Transtornos Parkinsonianos , Adulto , Encéfalo/patologia , Demência Frontotemporal/patologia , Humanos , Doença por Corpos de Lewy/patologia , Mutação/genética , Proteínas do Tecido Nervoso/genética , Transtornos Parkinsonianos/genética , Transtornos Parkinsonianos/patologia , Receptores de Superfície Celular
14.
Genet Med ; 23(9): 1715-1725, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34054129

RESUMO

PURPOSE: To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b during development. METHODS: We assembled ten patients from seven families with biallelic or de novo PLXNA1 variants. We describe genotype-phenotype correlations, investigated the variants by structural modeling, and used Morpholino knockdown experiments in zebrafish to characterize the embryonic role of plxna1a and plxna1b. RESULTS: Shared phenotypic features among patients include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Notably, seizures were predominantly reported in patients with monoallelic variants. Structural modeling of missense variants in PLXNA1 suggests distortion in the native protein. Our zebrafish studies enforce an embryonic role of plxna1a and plxna1b in the development of the central nervous system and the eye. CONCLUSION: We propose that different biallelic and monoallelic variants in PLXNA1 result in a novel neurodevelopmental syndrome mainly comprising developmental delay, brain, and eye anomalies. We hypothesize that biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect.


Assuntos
Anormalidades do Olho , Transtornos do Neurodesenvolvimento , Animais , Anormalidades do Olho/genética , Estudos de Associação Genética , Humanos , Proteínas do Tecido Nervoso/genética , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Receptores de Superfície Celular , Peixe-Zebra/genética
15.
Eur J Nucl Med Mol Imaging ; 48(11): 3522-3529, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33839891

RESUMO

PURPOSE: Up to 25% of patients diagnosed as idiopathic Parkinson's disease (IPD) have an atypical parkinsonian syndrome (APS). We had previously validated an automated image-based algorithm to discriminate between IPD, multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). While the algorithm was accurate with respect to the final clinical diagnosis after long-term expert follow-up, its relationship to the initial referral diagnosis and to the neuropathological gold standard is not known. METHODS: Patients with an uncertain diagnosis of parkinsonism were referred for 18F-fluorodeoxyglucose (FDG) PET to classify patients as IPD or as APS based on the automated algorithm. Patients were followed by a movement disorder specialist and subsequently underwent neuropathological examination. The image-based classification was compared to the neuropathological diagnosis in 15 patients with parkinsonism. RESULTS: At the time of referral to PET, the clinical impression was only 66.7% accurate. The algorithm correctly identified 80% of the cases as IPD or APS (p = 0.02) and 87.5% of the APS cases as MSA or PSP (p = 0.03). The final clinical diagnosis was 93.3% accurate (p < 0.001), but needed several years of expert follow-up. CONCLUSION: The image-based classifications agreed well with autopsy and can help to improve diagnostic accuracy during the period of clinical uncertainty.


Assuntos
Atrofia de Múltiplos Sistemas , Transtornos Parkinsonianos , Encéfalo/diagnóstico por imagem , Tomada de Decisão Clínica , Diagnóstico Diferencial , Fluordesoxiglucose F18 , Humanos , Atrofia de Múltiplos Sistemas/diagnóstico por imagem , Transtornos Parkinsonianos/diagnóstico por imagem , Incerteza
16.
Am J Obstet Gynecol ; 224(6): 603.e1-603.e9, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33771495

RESUMO

BACKGROUND: Fetal growth restriction is associated with an increased risk for adverse neonatal outcomes. The Hadlock singleton growth reference is widely used to determine the estimated fetal weight percentile for both twin and singleton gestations. The Eunice Kennedy Shriver National Institute of Child Health and Human Development's twin-specific growth reference accounts for the different growth trajectory that twins follow during gestation. There is a lack of research comparing these different growth references in their ability to identify fetal growth restriction that is associated with adverse neonatal outcomes in dichorionic twin gestations. OBJECTIVE: This study aimed to compare a twin-specific growth reference (the Eunice Kennedy Shriver National Institute of Child Health and Human Development's twin-specific growth reference) and a singleton growth reference (Hadlock) in their ability to identify fetal growth restriction associated with adverse neonatal outcomes in dichorionic twin gestations. STUDY DESIGN: This was a retrospective cohort study of dichorionic twin gestations at ≥32 weeks' gestation delivered at a single institution between 2004 and 2019 with the serial growth ultrasounds and neonatal outcomes data available for analysis. Using their last growth ultrasound before delivery, twins were classified into the following 3 categories: fetal growth restriction according to both the Hadlock and Eunice Kennedy Shriver National Institute of Child Health and Human Development references, fetal growth restriction according to the Hadlock reference only, and no fetal growth restriction according to either reference, with fetal growth restriction defined as an estimated fetal weight of <10th percentile for gestational age. Multivariable generalized linear mixed models were used to assess the adverse neonatal outcomes via pair-wise comparisons between the groups, with a random-effects component to account for twin-pair correlations. RESULTS: A total of 1460 dichorionic twin infants were included with 8.1% (n=118) of cases classified as fetal growth restricted by both the Eunice Kennedy Shriver National Institute of Child Health and Human Development and Hadlock references, 8.8% (n=129) of cases classified as fetal growth restricted by the Hadlock reference only, and 83.1% (n=1213) of cases classified as no fetal growth restriction by either reference. Compared with twins with no fetal growth restriction by either reference, twins with fetal growth restriction by both references were more likely to experience mild (adjusted odds ratio, 2.38; confidence interval, 1.38-4.13) or severe (adjusted odds ratio, 2.82; confidence interval, 1.16-6.88) composite neonatal morbidity. Compared with twins with fetal growth restriction according to the Hadlock reference only, twins with fetal growth restriction according to both references were more likely to experience mild (adjusted odds ratio, 2.03; confidence interval, 1.00-4.14) but not severe (adjusted odds ratio, 3.70; confidence interval, 0.72-18.90) composite neonatal morbidity. Composite neonatal morbidity was not different between twins with fetal growth restriction according to the Hadlock reference only and those with no fetal growth restriction by either growth reference. CONCLUSION: The Eunice Kennedy Shriver National Institute of Child Health and Human Development's twin-specific growth reference better identifies the risk for adverse neonatal outcomes in dichorionic twin gestations diagnosed with fetal growth restriction. The use of the Hadlock singleton growth reference more than doubles the number of dichorionic twins identified with fetal growth restriction who seem to be at a low-risk for neonatal morbidity, leading to unnecessary maternal anxiety, increased antenatal testing, and possibly iatrogenic preterm delivery.


Assuntos
Retardo do Crescimento Fetal/diagnóstico , Gráficos de Crescimento , Gêmeos Dizigóticos , Adulto , Estudos de Casos e Controles , Feminino , Retardo do Crescimento Fetal/mortalidade , Humanos , Recém-Nascido , Modelos Lineares , Modelos Logísticos , Gravidez , Valores de Referência , Estudos Retrospectivos
17.
Neurology ; 96(5): 233-236, 2021 02 02.
Artigo em Inglês | MEDLINE | ID: mdl-32913017

RESUMO

OBJECTIVE: To obtain feedback from early career adult and pediatric neurologists about the psychiatry component of residency training. METHODS: A survey was developed and administered electronically to 4 cohorts of recently certified American Board of Psychiatry and Neurology diplomates. RESULTS: The response rate was 16% (431/2,677) and included 330 adult neurologists and 101 pediatric neurologists. Fewer than half of the respondents described themselves as extremely or quite satisfied with their psychiatry training whereas 26% of the adult neurologists and 33% of the pediatric neurologists felt slightly or not at all prepared for this component of practice. Four themes were identified in the respondents' suggestions for improving psychiatry training: provide more outpatient experience; provide more time/teaching in psychiatry; provide more experience with both pharmacologic and nonpharmacologic psychiatric treatments; and provide more exposure to patients with conditions likely to be encountered in neurology/child neurology practice. CONCLUSION: These recent graduates of adult and pediatric neurology residency programs felt underprepared for the psychiatric issues they encountered in their patients. They suggested a number of strategies for better alignment of psychiatry training with the likely demands of practice. A model curriculum recently developed by the American Academy of Neurology's Consortium of Neurology Program Directors and the American Association of Directors of Psychiatric Residency Training also provides guidance for both neurology and psychiatry program directors.


Assuntos
Competência Clínica , Currículo , Internato e Residência , Neurologistas , Neurologia/educação , Satisfação Pessoal , Psiquiatria/educação , Educação de Pós-Graduação em Medicina , Humanos , Pediatria/educação , Inquéritos e Questionários
18.
Aust Educ Res ; 48(4): 585-604, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33262554

RESUMO

This scoping review provides an overview of COVID-19 approaches to managing unanticipated school closures and available literature related to young people learning outside-of-school. A range of material has been drawn upon to highlight educational issues of this learning context, including psychosocial and emotional repercussions. Globally, while some countries opted for a mass school shut-down, many schools remained open for students from disadvantaged backgrounds. This partial closure not only enabled learning in smaller targeted groups but also offered a safe sanctuary for those who needed a regulated and secure environment. In Australia, if full school closures were to be enforced over a long period, a significant proportion of students from more vulnerable backgrounds would likely experience persistent disadvantage through a range of barriers: long-term educational disengagement, digital exclusion, poor technology management, and increased psychosocial challenges. This scoping review combines research on technology availability and learning, with analysis of the long-term educational impacts of navigating the COVID-19 disruption.

19.
Res Dev Disabil ; 107: 103792, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33126148

RESUMO

BACKGROUND/AIMS: Insomnia is highly prevalent in children with neurodevelopmental disorders (NDDs), yet little research exists on sleep treatment access, utilization, and provision in this population. This study explores barriers and facilitators to access, use, and provision of treatment for sleep problems as experienced by parents of children with NDDs, including Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder (ADHD), Cerebral Palsy (CP) and Fetal Alcohol Spectrum Disorder (FASD), and health care professionals who work with children with these conditions. METHOD: Transcripts from online focus groups and interviews, conducted separately with parents of children with NDDs (n = 43) and health care professionals (n = 44), were qualitatively analyzed using content analysis for key themes. RESULTS: Barriers included limited access to/availability of treatment, lack of knowledge/training, NDD-specific factors (e.g., symptoms, medications, and comorbidities), parent factors (e.g., capacity to implement treatment, exhaustion), and the challenging, intensive nature of sleep treatment. Facilitators included positive beliefs and attitudes, education, support, and ability to modify treatments for NDD symptoms. Barriers and facilitators were similar across all four NDDs. CONCLUSIONS: Results highlight a need for more education about sleep in NDDs and to develop accessible interventions, as well as the potential of a transdiagnostic approach to sleep treatment in this population.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtornos do Neurodesenvolvimento , Distúrbios do Início e da Manutenção do Sono , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Criança , Feminino , Pessoal de Saúde , Humanos , Pais , Gravidez , Distúrbios do Início e da Manutenção do Sono/terapia
20.
Crit Care Med ; 48(11): 1664-1669, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32804787

RESUMO

OBJECTIVES: To describe the risk factors for and outcomes after myoclonus in a cohort of patients with coronavirus disease 2019. DESIGN: Multicenter case series. SETTING: Three tertiary care hospitals in Massachusetts, Georgia, and Virginia. PATIENTS: Eight patients with clinical myoclonus in the setting of coronavirus disease 2019. INTERVENTIONS & MEASUREMENTS AND MAIN RESULTS: Outcomes in patients with myoclonus were variable, with one patient who died during the study period and five who were successfully extubated cognitively intact and without focal neurologic deficits. In five cases, the myoclonus completely resolved within 2 days of onset, while in three cases, it persisted for 10 days or longer. Seven patients experienced significant metabolic derangements, hypoxemia, or exposure to sedating medications that may have contributed to the development of myoclonus. One patient presented with encephalopathy and developed prolonged myoclonus in the absence of clear systemic provoking factors. CONCLUSIONS: Our findings suggest that myoclonus may be observed in severe acute respiratory syndrome coronavirus 2 infected patients, even in the absence of hypoxia. This association warrants further evaluation in larger cohorts to determine whether the presence of myoclonus may aid in the assessment of disease severity, neurologic involvement, or prognostication.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Infecções por Coronavirus/terapia , Mioclonia/etiologia , Pneumonia Viral/complicações , Pneumonia Viral/terapia , Adulto , Idoso , COVID-19 , Feminino , Seguimentos , Georgia , Humanos , Hipóxia , Masculino , Massachusetts , Pessoa de Meia-Idade , Mioclonia/diagnóstico , Mioclonia/terapia , Pandemias , SARS-CoV-2 , Virginia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA