Results of inaugural international Down Syndrome Societal Services and Supports survey.

PURPOSE: We previously designed the Down Syndrome Societal Services and Supports Survey (DS-4S) to measure country-specific supports for people with Down syndrome (DS) across multiple life domains (healthcare, education, policy, independence, and community inclusion). We now report and analyze the results. METHODS: We partnered with international DS consortia, who distributed the DS-4S to 154 cumulative members representing over 100 countries. Organizations were included if they had a holistic focus on the lives of people with DS and if at least 50% of their members either have DS or are family members of people with DS. Factor analysis was used to analyze the results. RESULTS: We received survey responses from 55 different organizations in 50 countries who met inclusion criteria. Each country had complete data for at least 4 of the 5 domains. The lowest 5 scores were from countries in Africa and Asia; the highest 5 scores were in Europe and North America. CONCLUSION: The responses to the DS-4S stratified countries within each surveyed domain. The DS-4S can now be used to track countries' progress over time and to determine which countries have best practices that might be replicated. We will publish the results and update them biennially at www.DownSyndromeQualityOfLife.com.

Designing an international survey for organisations serving people with Down syndrome.

BACKGROUND: Down syndrome is the most common liveborn genetic condition. However, there are no surveys measuring societal services and supports for people with Down syndrome. We developed a questionnaire so that initiatives could be targeted towards countries most in need of assistance. METHOD: We formed a geographically diverse group of physicians, family members of people with Down syndrome, and members of Down syndrome not-for-profit organisations to create a survey of societal services and supports. We used a modified Delphi method and disseminated the survey to Down syndrome non-profit organisations worldwide. RESULTS: Our survey consists of 61 items categorised within five domains: Education, Community Inclusion, Independence, Healthcare, and Social and Policy Issues. CONCLUSIONS: We developed a survey to measure societal services and supports available to people with Down syndrome as perceived by organisational leaders. Our methods might serve as a blueprint for other populations of people with intellectual and developmental disabilities.

Assessing Different Approaches to Leveraging Historical Smoking Exposure Data to Better Select Lung Cancer Screening Candidates: A Retrospective Validation Study.

INTRODUCTION: There is mounting interest in the use of risk prediction models to guide lung cancer screening. Electronic health records (EHRs) could facilitate such an approach, but smoking exposure documentation is notoriously inaccurate. While the negative impact of inaccurate EHR data on screening practices reliant on dichotomized age and smoking exposure-based criteria has been demonstrated, less is known regarding its impact on the performance of model-based screening. AIMS AND METHODS: Data were collected from a cohort of 37 422 ever-smokers between the ages of 55 and 74, seen at an academic safety-net healthcare system between 1999 and 2018. The National Lung Cancer Screening Trial (NLST) criteria, PLCOM2012 and LCRAT lung cancer risk prediction models were validated against time to lung cancer diagnosis. Discrimination (area under the receiver operator curve [AUC]) and calibration were assessed. The effect of substituting the last documented smoking variables with differentially retrieved "history conscious" measures was also determined. RESULTS: The PLCOM2012 and LCRAT models had AUCs of 0.71 (95% CI, 0.69 to 0.73) and 0.72 (95% CI, 0.70 to 0.74), respectively. Compared with the NLST criteria, PLCOM2012 had a significantly greater time-dependent sensitivity (69.9% vs. 64.5%, p < .01) and specificity (58.3% vs. 56.4%, p < .001). Unlike the NLST criteria, the performances of the PLCOM2012 and LCRAT models were not prone to historical variability in smoking exposure documentation. CONCLUSIONS: Despite the inaccuracies of EHR-documented smoking histories, leveraging model-based lung cancer risk estimation may be a reasonable strategy for screening, and is of greater value compared with using NLST criteria in the same setting. IMPLICATIONS: EHRs are potentially well suited to aid in the risk-based selection of lung cancer screening candidates, but healthcare providers and systems may elect not to leverage EHR data due to prior work that has shown limitations in structured smoking exposure data quality. Our findings suggest that despite potential inaccuracies in the underlying EHR data, screening approaches that use multivariable models may perform significantly better than approaches that rely on simpler age and exposure-based criteria. These results should encourage providers to consider using pre-existing smoking exposure data with a model-based approach to guide lung cancer screening practices.

Epileptic spasms in individuals with Down syndrome: A review of the current literature.

Epilepsy can occur in individuals with Down syndrome (DS), with epileptic spasms representing the most frequent seizure type in this population. Epileptic spasms can have devastating consequences on the development of individuals with the condition. This review sought to explore the lifetime prevalence and underlying mechanism of epileptic spasms in this population. We also aimed to review the response rate to various treatments, the relapse rate, and the development of subsequent epilepsy or autism in this population. A comprehensive literature search was conducted for articles discussing the lifetime prevalence, diagnosis, treatment, outcomes, or underlying etiology of epileptic spasms in animal models or individuals with DS. According to available literature, the global clinic-based lifetime prevalence of epilepsy in individuals with DS ranged from 1.6% to 23.1%, with epileptic spasms representing 6.7%-66.7% of these cases. Response rate to treatment with adrenocorticotropic hormone/corticosteroids was highest (81%) and has the most literature supporting its use, with other regimens, including vigabatrin and other antiepileptic drugs, having lower response rates. Epileptic spasms occur more frequently in children with DS than in the general population, though more studies are needed to determine the true lifetime prevalence of epileptic spasms in this population. Generally, children with DS and epileptic spasms tend to be more responsive to treatment and have better outcomes than children with epileptic spasms of unknown etiology (ie, without DS), in terms of response and relapse rates as well as the development of intractable epilepsy (eg, Lennox-Gastaut syndrome).

Epileptic Spasms in Patients With Down Syndrome: Experiences From Caregivers.

Epileptic spasms are the most common type of seizure in infants with Down syndrome; however, the scope of current literature is largely limited to treatment options. We performed a chart review of patients seen at a Down syndrome specialty clinic to identify potential developmental sequelae of Down syndrome and epileptic spasms. We further interviewed parents of the children with Down syndrome and epileptic spasms to identify areas for improvement in counseling, diagnosis, and follow-up. Persistent developmental delays and autism spectrum disorder were highly prevalent in our patients. Caregivers attributed delays in treatment to insufficient counseling and awareness of epileptic spasms. They also identified inadequate emotional support after the diagnosis of the spasms. When counseling parents of infants with Down syndrome, pediatricians should educate about epileptic spasms. If spasms are diagnosed, providing emotional support with frequent follow-up is important. Furthermore, clinicians should monitor for signs of epilepsy and autism spectrum disorder.

Neighborhood Disadvantage and Lung Cancer Incidence in Ever-Smokers at a Safety Net Health-Care System: A Retrospective Study.

BACKGROUND: Neighborhood circumstances have an influence on multiple health outcomes, but the association between neighborhood conditions and lung cancer incidence has not been studied in sufficient detail. The goal of this study was to understand whether neighborhood conditions are independently associated with lung cancer incidence in ever-smokers after adjusting for individual smoking exposure and other risk factors. METHODS: A cohort of ever-smokers aged ≥ 55 years was assembled from 19 years of electronic health record data from our academic community health-care system. Patient demographic characteristics and other measures known to be associated with lung cancer were ascertained. Patient addresses at their index visit were geocoded to the census block group level to determine the area deprivation index (ADI), drawn from 5-year estimates from the American Community Survey. A multivariate Cox proportional hazards model was fit to assess the association between ADI and time to lung cancer diagnosis. Tests of statistical significance were two-sided. RESULTS: The study included 19,867 male subjects and 21,748 female subjects. Fifty-three percent of the patients were white, 38% were black, and 5% were Hispanic. Of these, 1,149 developed lung cancer. After adjusting for known risk factors, patients residing in the most disadvantaged areas had a significantly increased incidence of lung cancer compared with those in the least disadvantaged areas (hazard ratio, 1.29; 95% CI 1.07-1.55). CONCLUSIONS: Census-derived estimates of neighborhood conditions have a powerful association with lung cancer incidence, even when adjusting for individual variables. Further research investigating the mechanisms that link neighborhood conditions to lung cancer is warranted.