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OBJECTIVE: The ability to apply results from a study to a broader population remains a primary objective in translational science. Distinct from intrinsic elements of scientific rigor, the extrinsic concept of generalization requires there be alignment between a study cohort and population in which results are expected to be applied. Widespread efforts have been made to quantify representativeness of study cohorts. These techniques, however, often consider the study and target cohorts as monolithic collections that can be directly compared. Overlooking known impacts to health from socio-demographic and environmental factors tied to individual's geographical location, and potentially obfuscating misalignment in underrepresented population subgroups. This manuscript introduces several measures to account for geographic information in the assessment of cohort representation. METHODS: Metrics were defined across two themes: First, measures of recruitment, to assess if a study cohort is drawn at an expected rate and in an expected geographical pattern with respect to individuals in a reference cohort. Second, measures of individual characteristics, to assess if the individuals in the study cohort accurately reflect the sociodemographic, clinical, and geographic diversity observed across a reference cohort while accounting for the geospatial proximity of individuals. RESULTS: As an empirical demonstration, methods are applied to an active clinical study examining asthma in Black/African American patients at a US Midwestern pediatric hospital. Results illustrate how areas of over- and under-recruitment can be identified and contextualized in light of study recruitment patterns at an individual-level, highlighting the ability to identify a subset of features for which the study cohort closely resembled the broader population. In addition they provide an opportunity to dive deeper into misalignments, to identify study cohort members that are in some way distinct from the communities for which they are expected to represent. CONCLUSION: Together, these metrics provide a comprehensive spatial assessment of a study cohort with respect to a broader target population. Such an approach offers researchers a toolset by which to target expected generalization of results derived from a given study.
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Seleção de Pacientes , Humanos , Estudos de Coortes , Masculino , Feminino , Criança , Asma , Adolescente , Sistemas de Informação GeográficaRESUMO
BACKGROUND: Most neighborhood food and activity related environment research in children has been cross-sectional. A better understanding of prospective associations between these neighborhood environment factors and children's weight status can provide stronger evidence for informing interventions and policy. This study examined associations of baseline and changes in neighborhood healthy food access and walkability with changes in children's weight status over 5 years. METHODS: Height, weight, and home address were obtained for 4,493 children (> 75% were Black or Latinx) from primary care visits within a large pediatric health system. Eligible participants were those who had measures collected during two time periods (2012-2014 [Time 1] and 2017-2019 [Time 2]). Data were integrated with census tract-level healthy food access and walkability data. Children who moved residences between the time periods were considered 'movers' (N = 1052; 23.4%). Mixed-effects models, accounting for nesting of children within census tracts, were conducted to model associations of baseline and changes in the neighborhood environment variables with Time 2 weight status (BMIz and overweight or obese vs. healthy weight). Models adjusted for weight status and child and neighborhood sociodemographics at baseline. RESULTS: Children living in a neighborhood with [ample] healthy food access at Time 1 had a lower BMIz at Time 2, regardless of mover status. A decrease in healthy food access was not significantly associated with children's weight status at Time 2. Baseline walkability and improvements in walkability were associated with a lower BMIz at Time 2, regardless of mover status. CONCLUSIONS: Findings provide evidence that residing in a neighborhood with healthy food access and walkability may support a healthy weight trajectory in children. Findings on changes in the neighborhood environment suggested that improved walkability in the neighborhood may support children's healthy weight. The greater and more consistent findings among movers may be due to movers experiencing greater changes in neighborhood features than the changes that typically occur within a neighborhood over a short period of time. Future research is needed to investigate more robust environmental changes to neighborhoods.
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Saúde da Criança , Alimentos , Humanos , Criança , Estudos Transversais , Programas Governamentais , Nível de SaúdeRESUMO
While a significant proportion of the population suffer from migraine, the existing research literature does not provide a clear indication as to whether migraineurs experience objective cognitive deficits outside of acute migraine attacks. This meta-analysis was conducted to investigate which cognitive domains if any were affected by migraine, by synthesising the existing research quantitatively. The meta-analysis was prospectively registered with the PROSPERO International prospective register of systematic reviews (registration no.: CRD42019134138). A search of the electronic databases PubMed, Ovid MEDLINE, and PsycINFO was conducted for journal articles published between January 1980 and January 2020. Seventeen studies met the inclusion criteria, allowing for the calculation of pooled effect sizes between migraineurs (with and without aura) and healthy controls in the several cognitive domains. During the interictal period, migraineurs demonstrated a moderate, negative effect on complex attention immediate and delayed memory, spatial cognition, and executive functioning. This effect was not attributable to migraine history, attack frequency, or participant age. However, the lack of performance validity testing, and limited data on mood symptomatology and migraine medication use in the included studies may be confounds potentially overestimating the magnitude of effect. Comparison with a clinical control group, which may have accounted for some these extraneous variables, was unable to be conducted. Recommendations for comprehensive future neuropsychological research are provided.
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Transtornos Cognitivos , Transtornos de Enxaqueca , Humanos , Revisões Sistemáticas como Assunto , Transtornos Cognitivos/psicologia , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/psicologia , Função Executiva , CogniçãoRESUMO
AIMS: Patients with depression and bipolar disorder have previously been shown to have impaired white matter (WM) integrity compared with healthy controls. This study aimed to investigate potential sex differences that may provide further insight into the pathophysiology of these highly debilitating mood disorders. METHODS: Participants aged 17 to 30 years (168 with depression [60% females], 107 with bipolar disorder [74% females], and 61 controls [64% females]) completed clinical assessment, self-report measures, and a neuropsychological assessment battery. Participants also underwent magnetic resonance imaging from which diffusion tensor imaging data were collected among five fronto-limbic WM tracts: cingulum bundle (cingulate gyrus and hippocampus subsections), fornix, stria terminalis, and the uncinate fasciculus. Mean fractional anisotropy (FA) scores were compared between groups using analyses of variance with sex and diagnosis as fixed factors. RESULTS: Among the nine WM tracts analyzed, one revealed a significant interaction between sex and diagnosis, controlling for age. Male patients with bipolar disorder had significantly lower FA scores in the fornix compared with the other groups. Furthermore, partial correlations revealed a significant positive association between FA scores for the fornix and psychomotor speed. CONCLUSIONS: Our findings suggest that males with bipolar disorder may be at increased risk of disruptions in WM integrity, especially in the fornix, which is thought to be responsible for a range of cognitive functions. More broadly, our findings suggest that sex differences may exist in WM integrity and thereby alter our understanding of the pathophysiology of mood disorders.
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Substância Branca , Adolescente , Anisotropia , Imagem de Tensor de Difusão/métodos , Feminino , Humanos , Masculino , Transtornos do Humor/diagnóstico por imagem , Caracteres Sexuais , Substância Branca/diagnóstico por imagem , Substância Branca/patologiaRESUMO
Background: There have been mixed findings on the relationships between childhood obesity and macroscale retail food environments. The current study investigates associations of the neighborhood retail food environment with changes in children's weight status over 6 years in the Kansas City Metropolitan area. Methods: Anthropometrics and home addresses were collected during routine well-child visits in a large pediatric hospital (n = 4493; >75% were Black or Latinx children). Children had measures collected during two time periods ([Time 1] 2012-2014, [Time 2] 2017-2019). Establishment-level food environment data were used to determine the number of four types of food outlets within a 0.5-mile buffer from the children's residence: supermarkets/large grocery stores, convenience stores/small grocery stores, limited-service restaurants, and full-service restaurants. Children who moved residences between periods were "movers" (n = 1052). Associations of baseline and changes in food environment status with Time 2 weight status were assessed using mixed-effects models. Results: Movers who experienced no change in the number of convenience stores or small grocery stores within a 0.5-mile of their home had increased likelihoods of having overweight/obesity and less favorable BMIz changes, compared with movers who experienced a decrease in convenience stores/small grocery stores within a 0.5-mile distance. No associations were observed among nonmovers. Conclusion: Findings suggest that moving to an area with fewer unhealthy retail food outlets (e.g., convenience stores) is associated with a lower risk of obesity in children. Future research is needed to determine whether larger-scale changes to the retail food environment within a neighborhood can support children's healthy weight.
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Population-level efforts are needed to increase levels of physical activity and healthy eating to reduce and manage chronic diseases such as obesity, cardiovascular disease, and type 2 diabetes. Interventions to increase public transit use may be one promising strategy, particularly for low-income communities or populations of color who are disproportionately burdened by health disparities and transportation barriers. This study employs a natural experiment design to evaluate the impacts of a citywide zero-fare transit policy in Kansas City, Missouri, on ridership and health indicators. In Aim 1, comparison to 9 similar cities without zero-fare transit is used to examine differential changes in ridership from 3 years before to 4 years after the adoption of zero-fare. In Aim 2, Kansas City residents are being recruited from a large safety net health system to compare health indicators between zero-fare riders and non- riders. Longitudinal data on BMI, cardiometabolic markers, and economic barriers to health are collected from the electronic health record from 2017 to 2024. Cross-sectional data on healthy eating and device-measured physical activity are collected from a subsample of participants as part of the study procedures (N = 360). Numerous baseline characteristics are collected to account for differences between Kansas City and comparison city bus routes (Aim 1) and between zero-fare riders and non-riders within Kansas City (Aim 2). Evidence on how zero-fare transit shapes population health through mechanisms related to improved economic factors, transportation, physical activity, and healthy eating among low-income groups is expected.
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Determinantes Sociais da Saúde , Meios de Transporte , Humanos , Missouri , Feminino , Masculino , Adulto , Exercício Físico , Estudos Transversais , Pessoa de Meia-IdadeRESUMO
It is now widely accepted that in addition to motor coordination, the cerebellum is also involved in the modulation of cognitive and affective processes. Despite alcoholic cerebellar degeneration (ACD) being the most common form of cerebellar disorder, little systematic investigation of cerebellar-mediated cognitive and affective deficits has occurred in chronic alcoholics. Forty-nine chronic alcoholics and 29 healthy control participants underwent testing of cognitive and affective function, along with measurement of cerebellar ataxia using the International Cooperative Ataxia Rating Scale (Trouillas et al., Journal of the Neurological Sciences 145:205-11, 1997). The alcoholic group demonstrated significantly poorer performance as compared to the control group in a number of domains, including visuospatial and language skills, psychomotor speed, new learning and memory, executive functioning, and emotional regulation and affect processing. There were no differences between the alcoholic and control groups in immediate attention and working memory abilities. Years of heavy drinking and total period of abstinence were found to be the best predictors of cognitive and emotional function in the alcoholic group. After accounting for alcohol chronicity, there was still a relationship between the degree of clinical signs of ACD and some areas of cognitive and emotional functioning, including language, executive functioning, processing speed and affect processing. The results suggest that some of the cognitive and affective deficits observed in chronic alcoholics may be mediated, at least in part, by cerebellar dysfunction. These findings add support to the theory of disruption to bidirectional cerebro-cerebellar circuitry underlying cognitive and affective deficits in chronic alcoholics.
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Alcoolismo/fisiopatologia , Doenças Cerebelares/fisiopatologia , Transtornos Cognitivos/fisiopatologia , Emoções , Testes Neuropsicológicos , Temperança , Adulto , Idoso , Alcoolismo/epidemiologia , Alcoolismo/psicologia , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/psicologia , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Temperança/psicologiaRESUMO
BACKGROUND: DNA methylation is a critical molecular mark involved in cellular differentiation and cell-specific processes. Single-cell whole genome DNA methylation profiling methods hold great potential to resolve the DNA methylation profiles of individual cell-types. Here we present a method that couples single-cell combinatorial indexing (sci) with enzymatic conversion (sciEM) of unmethylated cytosines. RESULTS: The sciEM method facilitates DNA methylation profiling of single-cells that is highly correlated with single-cell bisulfite-based workflows (r2 > 0.99) whilst improving sequencing alignment rates, reducing adapter contamination and over-estimation of DNA methylation levels (CpG and non-CpG). As proof-of-concept we perform sciEM analysis of the temporal lobe, motor cortex, hippocampus and cerebellum of the human brain to resolve single-cell DNA methylation of all major cell-types. CONCLUSION: To our knowledge sciEM represents the first non-bisulfite single-cell DNA methylation sequencing approach with single-base resolution.
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Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), we used ExpansionHunter, REviewer, and polymerase chain reaction validation to assess 21 neurodegenerative disease-associated STRs in whole-genome sequencing data from 608 patients with sporadic ALS, 68 patients with sporadic FTD, and 4703 matched controls. We also propose a data-derived outlier detection method for defining allele thresholds in rare STRs. Excluding C9orf72 repeat expansions, 17.6% of clinically diagnosed ALS and FTD cases had at least one expanded STR allele reported to be pathogenic or intermediate for another neurodegenerative disease. We identified and validated 162 disease-relevant STR expansions in C9orf72 (ALS/FTD), ATXN1 [spinal cerebellar ataxia type 1 (SCA1)], ATXN2 (SCA2), ATXN8 (SCA8), TBP (SCA17), HTT (Huntington's disease), DMPK [myotonic dystrophy type 1 (DM1)], CNBP (DM2), and FMR1 (fragile-X disorders). Our findings suggest clinical and pathological pleiotropy of neurodegenerative disease genes and highlight their importance in ALS and FTD.
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Esclerose Lateral Amiotrófica , Demência Frontotemporal , Ataxias Espinocerebelares , Humanos , Demência Frontotemporal/genética , Esclerose Lateral Amiotrófica/genética , Proteína C9orf72/genética , Expansão das Repetições de DNA/genética , Ataxias Espinocerebelares/genética , Proteína do X Frágil da Deficiência Intelectual/genéticaRESUMO
BACKGROUND: Alcoholism is the most common cause of cerebellar dysfunction, yet estimates of the incidence of alcoholic cerebellar degeneration (ACD) vary greatly, with differences in methodologies contributing to these disparate findings. This study set out to characterize the frequency and pattern of clinical signs of ACD in an alcoholic group using the International Cooperative Ataxia Rating Scale (ICARS). METHODS: We compared the performance of 49 alcoholics and 29 control participants. The relative contributions of demographic and alcohol consumption variables to ICARS scores in the alcoholic group were also examined. RESULTS: The alcoholic group demonstrated significantly poorer performance on all of the ICARS subscales as compared with the control group. Within the alcoholic group, performance was more impaired on the speech scale than on all of the other scales, except the lower limb component of the kinetic scale, and less impaired on the oculomotor scale compared with all other scales. Years of heavy drinking and lifetime alcohol consumption correlated with total ICARS scores; however, maximum daily consumption was actually negatively correlated with ICARS scores. Of the alcohol history variables, years of heavy drinking was the best predictor of total ICARS scores, making a 19% unique contribution, followed by the period of abstinence from alcohol, which uniquely contributed 7% of the variance. There were high correlations between age and male gender and the alcohol consumption variables; however, age and gender were still found to uniquely contribute 5 and 7% respectively to the variance in total ICARS scores. CONCLUSIONS: ACD may affect up to two-thirds of chronic alcoholics. Assessing the number of years an individual has been drinking beyond a certain threshold can give a good indication of the likelihood of ACD. Age, gender, and the source of the clinical sample may significantly contribute to the prevalence of ACD and require further detailed investigation.
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Alcoólicos , Alcoolismo/epidemiologia , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/epidemiologia , Índice de Gravidade de Doença , Adulto , Feminino , Humanos , Internacionalidade , Masculino , Pessoa de Meia-Idade , Fatores de TempoRESUMO
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read sequencing with Oxford Nanopore's ReadUntil function for parallel genotyping of all known neuropathogenic STRs in a single assay. Our approach enables accurate, haplotype-resolved assembly and DNA methylation profiling of STR sites, from a list of predetermined candidates. This correctly diagnoses all individuals in a small cohort (n = 37) including patients with various neurogenetic diseases (n = 25). Targeted long-read sequencing solves large and complex STR expansions that confound established molecular tests and short-read sequencing and identifies noncanonical STR motif conformations and internal sequence interruptions. We observe a diversity of STR alleles of known and unknown pathogenicity, suggesting that long-read sequencing will redefine the genetic landscape of repeat disorders. Last, we show how the inclusion of pharmacogenomic genes as secondary ReadUntil targets can further inform patient care.
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Sequenciamento por Nanoporos , Alelos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Repetições de Microssatélites/genética , Análise de Sequência de DNARESUMO
Topographical disorientation is the impairment or inability to successfully navigate in three-dimensional space. Differing topographical disorientation syndromes have been associated with distinct lesion sites in the acquired brain injury (ABI) literature. This meta-analysis attempted to investigate the relationship between lesion location and dysfunctions in specific navigational abilities resulting in topographical disorientation in individuals with ABI, as measured by their performance on experimental and neuropsychological tests. It was expected that focal lesions would be associated with a specific navigational deficit in one ability, with relative sparing of other navigational abilities. Twenty-six papers met the inclusion criteria for the analysis. Results indicated that ABI populations performed worse on all measures of navigation, with moderate to large effect sizes. Dysfunctions in three core navigational skills were consistent with the available lesion studies: a feature/landmark processing unit, a spatial processing unit, and a spatial/feature binding and associative learning unit. A sequential processing model was created to attempt to best represent the transfer of information between these units and the process by which navigational knowledge is generated. The model was then used to assess the validity of existing models of navigation and topographical disorientation.
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Lesões Encefálicas , Navegação Espacial , Processamento Espacial , Confusão , Humanos , Testes Neuropsicológicos , Percepção Espacial , SíndromeRESUMO
Identified genetic mutations cause 20% of frontotemporal dementia (FTD) and 5-10% of amyotrophic lateral sclerosis (ALS) cases: however, for the remainder of patients the origin of disease is uncertain. The overlap in genetic, clinical and pathological presentation of FTD and ALS suggests these two diseases are related. Post-mortem, ~ 95% of ALS and ~ 50% of FTD patients show redistribution of the nuclear protein TDP-43 to the cytoplasm within affected neurons, while ~ 5% ALS and ~ 10% FTD show mislocalisation of FUS protein. We exploited these neuropathological features to develop an unbiased method for the in vitro quantification of cytoplasmic TDP-43 and FUS. Utilising fluorescently-tagged cDNA constructs and immunocytochemistry, the fluorescence intensity of TDP-43 or FUS was measured in the nucleus and cytoplasm of cells, using the freely available software CellProfiler. Significant increases in the amount of cytoplasmic TDP-43 and FUS were detectable in cells expressing known FTD/ALS-causative TARDBP and FUS gene mutations. Pharmacological intervention with the apoptosis inducer staurosporine and mutation in a secondary gene (CYLD) also induced measurable cytoplasmic mislocalisation of endogenous FUS and TDP-43, respectively. These findings validate this methodology as a novel in vitro technique for the quantification of TDP-43 or FUS mislocalisation that can be used for initial prioritisation of predicted FTD/ALS-causative mutations.
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Esclerose Lateral Amiotrófica/genética , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Demência Frontotemporal/genética , Testes Genéticos/métodos , Mutação/genética , Proteína FUS de Ligação a RNA/genética , Proteína FUS de Ligação a RNA/metabolismo , Animais , Linhagem Celular , Citoplasma/genética , Citoplasma/metabolismo , Enzima Desubiquitinante CYLD/genética , Humanos , Neurônios/citologia , Neurônios/metabolismo , Estaurosporina/genéticaRESUMO
OBJECTIVE: To determine whether video-based coping skills (VCS) training with telephone coaching reduces psychosocial and biological markers of distress in primary caregivers of a relative with Alzheimer's disease or related dementia (ADRD). METHODS: A controlled clinical trial was conducted with 116 ADRD caregivers who were assigned, alternately as they qualified for the study, to a Wait List control condition or the VCS training arm in which they viewed two modules/week of a version of the Williams LifeSkills Video adapted for ADRD family care contexts, did the exercises and homework for each module presented in an accompanying Workbook, and received one telephone coaching call per week for 5 weeks on each week's two modules. Questionnaire-assessed depressive symptoms, state and trait anger and anxiety, perceived stress, hostility, caregiver self-efficacy, salivary cortisol across the day and before and after a stress protocol, and blood pressure and heart rate during a stress protocol were assessed before VCS training, 7 weeks after training was completed, and at 3 months' and 6 months' follow-up. RESULTS: Compared with controls, participants who received VCS training plus telephone coaching showed significantly greater improvements in depressive symptoms, trait anxiety, perceived stress, and average systolic and diastolic blood pressures that were maintained over the 6-month follow-up period. CONCLUSIONS: VCS training augmented by telephone coaching reduced psychosocial and biological indicators of distress in ADRD caregivers. Future studies should determine the long-term benefits to mental and physical health from this intervention. TRIAL REGISTRATION: http://www.clinicaltrials.gov; #NCT00396825.
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Adaptação Psicológica , Doença de Alzheimer/terapia , Cuidadores/educação , Cuidadores/psicologia , Ensino , Gravação em Vídeo/métodos , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/enfermagem , Depressão/terapia , Feminino , Seguimentos , Nível de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Inventário de Personalidade , Escalas de Graduação Psiquiátrica , Estresse Psicológico/terapia , Inquéritos e Questionários , Resultado do TratamentoRESUMO
Relatively consistent findings from recent studies using population-level data identify heightened physical and psychiatric morbidity in autistic people compared to the general population. Health problems that commonly present with autism spectrum disorder (ASD) are generally discussed in the literature as "co-occurring" or "comorbid" regardless of their known or hypothesized causal mechanisms. In this commentary, we introduce a new temporally focused terminology to describe health conditions that present with ASD. Emphasizing the temporal development of health conditions in research will help the field understand whether conditions are (1) "truly co-occurring" (share an etiologic origin with ASD in utero and are a defining characteristic of a subphenotype), (2) "resulting" (caused by ASD related disparity or the health effect of behaviors developed to cope with ASD symptoms), or (3) "associated" (conditions more common in individuals with ASD with etiology not yet known or hypothesized, or an artifact of diagnostic process or trends). Whether a health condition is "truly co-occurring", "resulting", or "associated" has implications for how we design interventions to prevent and treat health conditions in people on the autism spectrum. Ultimately, we think that using clear and temporally focused language can set us on a path to better deduce etiology and develop effective prevention and intervention efforts for health conditions that impact the lives of autistic individuals. We hope that this approach to temporal language to describe health conditions that present with ASD promotes thought and discussion in research, advocate, and autistic communities. Autism Research 2019, 12: 20-25. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Research finds autistic people have more health problems than the general population but we do not understand why. In this commentary, we argue researchers need to use language describing the timing of health problems in autistic people, specifying whether problems truly co-occur (share a cause), result from autism-related disparities, or are more common in autistic people for an unknown reason. Clarifying language can provide more specificity in research and improve efforts to prevent and treat health problems in autistic people.
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Transtorno do Espectro Autista/epidemiologia , Doença Crônica/epidemiologia , Nível de Saúde , Terminologia como Assunto , Adolescente , Comorbidade , Feminino , Humanos , Masculino , Sensibilidade e Especificidade , Tempo , Adulto JovemRESUMO
BACKGROUND: People on the autism spectrum may have more physical and mental health conditions in midlife and old age compared to the general population. This study describes the physical and mental health of a unique sample of all middle aged and older Wisconsin Medicaid beneficiaries with an autism spectrum disorder diagnosis and tests differences between those with and without co-occurring intellectual disability. METHOD: Using de-identified Medicaid claims data for 143 adults with a recorded autism spectrum disorder diagnosis aged 40-88 years with any Wisconsin Medicaid claims in 2012 through 2015, we extracted diagnoses for physical and mental health conditions from fee-for-service claims. Logistic regression analyses-controlling for sex, race, and age-compared the adjusted odds of physical and mental health conditions for those with and without intellectual disability. RESULTS: Many physical and mental health conditions, including immune conditions (70.6%), cardiovascular disease (49.0%) and its risk factors (46.2%), sleep disorders (85.3%), gastrointestinal disorders (49.7%), neurologic conditions (55.9%), and psychiatric disorders (72.0%) were highly prevalent in our full sample. Although there were many similarities between those individuals with and without co-occurring intellectual disability, middle aged and older adults on the autism spectrum had higher prevalence of epilepsy and lower prevalence of depression and anxiety compared to those without co-occurring intellectual disability. CONCLUSIONS: Findings suggest that people on the autism spectrum have a high prevalence of physical and mental health conditions in midlife and old age, regardless of intellectual disability status.
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The social work profession has not yet taken a leadership role in addressing the myriad of challenges that individuals on the autism spectrum encounter across the lifespan. In this essay, we argue that social workers are well equipped to engage in research and practice aimed at promoting full and meaningful inclusion in society, as well as social and economic justice, for individuals on the autism spectrum. We highlight short- and long-term goals that provide the social work profession with a framework to engage in research, practice, education, and advocacy aimed at supporting individuals on the autism spectrum and their families.
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Identifying modifiable correlates of good quality of life in adults with autism spectrum disorder is of paramount importance for intervention development as the population of adults with autism spectrum disorder increases. This study sought to examine social support and perceived stress as potential modifiable correlates of quality of life in adults with autism spectrum disorder. We hypothesized that adults with autism spectrum disorder without co-occurring intellectual disabilities ( N = 40; aged 18-44 years) would report lower levels of social support and quality of life than typical community volunteers who were matched for age, sex, and race ( N = 25). We additionally hypothesized that social support would buffer the effect of perceived stress on quality of life in adults with autism spectrum disorder. Results indicated that adults with autism spectrum disorder reported significantly lower levels of social support and quality of life than matched typical community volunteers. In addition, findings showed significant direct effects of social support and perceived stress on quality of life in adults with autism spectrum disorder. Social support did not buffer the effect of perceived stress on quality of life. Interventions that teach adults with autism spectrum disorder skills to help them better manage stress and cultivate supportive social relationships have the potential to improve quality of life.
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Transtorno do Espectro Autista/psicologia , Qualidade de Vida/psicologia , Apoio Social , Estresse Psicológico/psicologia , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Modelos Lineares , Masculino , Adulto JovemRESUMO
BACKGROUND: The rise in women's tobacco use and subsequent health complications has generated an increase in gender-related tobacco use research. However, no research has examined gender's influence on tobacco use among people with intellectual and developmental disabilities (IDD). OBJECTIVE: To examine 1) tobacco use prevalence rates among men and women with IDD, and 2) correlates of tobacco use among men and women with IDD. METHODS: This study examined gender differences in tobacco use among a sample of 3587 adult U.S. Special Olympics athletes who participated in health screenings from 2007 to 2014. The athletes were aged 18-89 (Mâ¯=â¯32.86); 55.8% were male. Prevalence rates were calculated for men and women, and logistic regression analyses were conducted to examine tobacco use's association with age, blood pressure, body mass index, family member tobacco use, and daily fruit and vegetable consumption for each gender. RESULTS: Women's tobacco use prevalence was 4.1%, and men's was 9.4%. The only variable significantly associated with women's tobacco use was family member use, while men's tobacco use was associated with age, systolic blood pressure, family member tobacco use, and fruit and vegetable consumption. CONCLUSION: Results shed light on possible courses of action for reducing tobacco use among women and men with IDD. Further research is needed to develop effective prevention and intervention approaches appropriate for people with IDD.
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Atletas , Deficiências do Desenvolvimento , Pessoas com Deficiência , Deficiência Intelectual , Esportes , Fumar Tabaco , Adulto , Feminino , Identidade de Gênero , Humanos , Modelos Logísticos , Masculino , Prevalência , Fatores Sexuais , Estados Unidos , Adulto JovemRESUMO
Very little is known about the health problems experienced by individuals with autism spectrum disorder (ASD) throughout their life course. We retrospectively analyzed diagnostic codes associated with de-identified electronic health records using a machine learning algorithm to characterize diagnostic patterns in decedents with ASD and matched decedent community controls. Participants were 91 decedents with ASD and 6,186 sex and birth year matched decedent community controls who had died since 1979, the majority of whom were middle aged or older adults at the time of their death. We analyzed all ICD-9 codes, V-codes, and E-codes available in the electronic health record and Elixhauser comorbidity categories associated with those codes. Diagnostic patterns distinguished decedents with ASD from decedent community controls with 75% sensitivity and 94% specificity solely based on their lifetime ICD-9 codes, V-codes, and E-codes. Decedents with ASD had higher rates of most conditions, including cardiovascular disease, motor problems, ear problems, urinary problems, digestive problems, side effects from long-term medication use, and nonspecific lab tests and encounters. In contrast, decedents with ASD had lower rates of cancer. Findings suggest distinctive lifetime diagnostic patterns among decedents with ASD and highlight the need for more research on health outcomes across the lifespan as the population of individuals with ASD ages. As a large wave of individuals with ASD diagnosed in the 1990s enters adulthood and middle age, knowledge about lifetime health problems will become increasingly important for care and prevention efforts. Autism Res 2018, 11: 1120-1128. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study looked at patterns of lifetime health problems to find differences between people with autism who had died and community controls who had died. People with autism had higher rates of most health problems, including cardiovascular, urinary, respiratory, digestive, and motor problems, in their electronic health records. They also had lower rates of cancer. More research is needed to understand these potential health risks as a large number of individuals with autism enter adulthood and middle age.