OBJECTIVE: To describe immediate postpartum long-acting reversible contraception (IPP LARC) insertion rates during delivery hospitalizations at the state level and by payor type. STUDY DESIGN: This is a cross sectional study of 26 states and District of Columbia (DC) using 2020 State Inpatient Database. RESULTS: In 2020, IPP LARC insertion rates varied widely by states, ranging from 2.55 to 637.25 per 10,000 deliveries. Rates were higher for deliveries with Medicaid as primary expected payor than with private insurance in all states but DC. CONCLUSIONS: Rates of IPP LARC insertion varied in 2020 by state and were higher for deliveries with Medicaid as primary expected payor.

Introduction: We evaluated how the Affordable Care Act (ACA) Medicaid eligibility expansion affected perinatal insurance coverage patterns for Medicaid-enrolled beneficiaries who gave birth overall and by race/ethnicity. We also examined state-level heterogeneous impacts. Methods: Using the 2011–2013 Medicaid Analytic eXtract and the 2016–2018 Transformed Medicaid Statistical Information System Analytic File databases, we identified 1.4 million beneficiaries giving birth in 2012 (pre-ACA expansion cohort) and 1.5 million in 2017 (post-ACA expansion cohort). We constructed monthly coverage rates for the two cohorts by state Medicaid expansion status and obtained difference-in-differences estimates of the association of Medicaid expansion with coverage overall and by race/ethnicity group (non-Hispanic White, non-Hispanic Black, and Hispanic). To explore state-level heterogeneous impacts, we divided the expansion and non-expansion states into groups based on the differences in the income eligibility limits for low-income parents in each state between 2012 and 2017. Results: Medicaid expansion was associated with 13 percentage points higher coverage in the 9 to 12 months before giving birth, and 11 percentage points higher coverage at 6 to 12 months postpartum. Hispanic birthing individuals had the greatest relative increases in coverage, followed by non-Hispanic White and non-Hispanic Black individuals. In Medicaid expansion states, those who experienced the greatest increases in income eligibility limits for low-income parents generally saw the greatest increases in coverage. In non-expansion states, there was less heterogeneity between state groupings. Conclusions: Pregnancy-related Medicaid eligibility did not have major changes in the 2010s. However, states’ adoption of ACA Medicaid expansion after 2012 was associated with increased Medicaid coverage before, during, and after pregnancy. The increases varied by race/ethnicity and across states. © 2023

BACKGROUND: The objective was to assess mental health and substance use disorders (MSUD) at delivery hospitalization and readmissions after delivery discharge. METHODS: This is a population-based retrospective cohort study of persons who had a delivery hospitalization during January to September in the 2019 Nationwide Readmissions Database. We calculated 90-day readmission rates for MSUD and non-MSUD, overall and stratified by MSUD status at delivery. We used multivariable logistic regressions to assess the associations of MSUD type, patient, clinical, and hospital factors at delivery with 90-day MSUD readmissions. RESULTS: An estimated 11.8% of the 2,697,605 weighted delivery hospitalizations recorded MSUD diagnoses. The 90-day MSUD and non-MSUD readmission rates were 0.41% and 2.9% among delivery discharges with MSUD diagnoses, compared to 0.047% and 1.9% among delivery discharges without MSUD diagnoses. In multivariable analysis, schizophrenia, bipolar disorder, stimulant-related disorders, depressive disorders, trauma- and stressor-related disorders, alcohol-related disorders, miscellaneous mental and behavioral disorders, and other specified substance-related disorders were significantly associated with increased odds of MSUD readmissions. Three or more co-occurring MSUDs (vs one MSUD), Medicare or Medicaid (vs private) as the primary expected payer, lowest (vs highest) quartile of median household income at residence zip code level, decreasing age, and longer length of stay at delivery were significantly associated with increased odds of MSUD readmissions. CONCLUSION: Compared to persons without MSUD at delivery, those with MSUD had higher MSUD and non-MSUD 90-day readmission rates. Strategies to address MSUD readmissions can include improved postpartum MSUD follow-up management, expanded Medicaid postpartum coverage, and addressing social determinants of health.

BACKGROUND: Direct estimates of rare disease prevalence from public health surveillance may only be available in a few catchment areas. Understanding variation among observed prevalence can inform estimates of prevalence in other locations. The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) conducts population-based surveillance of major muscular dystrophies in selected areas of the United States. We identified sources of variation in prevalence estimates of Duchenne and Becker muscular dystrophy (DBMD) within MD STARnet from published literature and a survey of MD STARnet investigators, then developed a logic model of the relationships between the sources of variation and estimated prevalence. RESULTS: The 17 identified sources of variability fell into four categories: (1) inherent in surveillance systems, (2) particular to rare diseases, (3) particular to medical-records-based surveillance, and (4) resulting from extrapolation. For the sources of uncertainty measured by MD STARnet, we estimated each source's contribution to the total variance in DBMD prevalence. Based on the logic model we fit a multivariable Poisson regression model to 96 age-site-race/ethnicity strata. Age accounted for 74% of the variation between strata, surveillance site for 6%, race/ethnicity for 3%, and 17% remained unexplained. CONCLUSION: Variation in estimates derived from a non-random sample of states or counties may not be explained by demographic differences alone. Applying these estimates to other populations requires caution.

Hepatitis A virus can cause severe and prolonged illness in persons with HIV (PWH). In July 2020, the Advisory Committee on Immunization Practices (ACIP) expanded its recommendation for hepatitis A vaccination to include all PWH aged ≥1 year. We used a decision analytic model to estimate the value of vaccinating a cohort of adult PWH aged ≥20 years with diagnosed HIV in the United States using a limited societal perspective. The model compared 3 scenarios over an analytic horizon of 1 year: no vaccination, current vaccine coverage, and full vaccination. We incorporated the direct medical costs and nonmedical costs (i.e., public health costs and productivity loss). We estimated the total number of infections averted, cost to vaccinate, and incremental cost per case averted. Full implementation of the ACIP recommendation resulted in 775 to 812 fewer adult cases of hepatitis A in 1 year compared with the observed vaccination coverage. The incremental cost-effectiveness ratio for the full vaccination scenario was $48,000 for the 2-dose single-antigen hepatitis A vaccine and $130,000 for the 3-dose combination hepatitis A and hepatitis B vaccine per case averted, compared with the observed vaccination scenario. Depending on type of vaccine, full hepatitis A vaccination of PWH could lead to ≥80% reduction in the number of cases and $48,000 to $130,000 in additional cost per case averted. Data on hepatitis A health outcomes and costs specific to PWH are needed to better understand the longer-term costs and benefits of the 2020 ACIP recommendation.

AIM: To describe the education and employment transition experience of young adults with spina bifida (YASB) and investigate factors associated with employment. METHOD: We queried education and employment data from the US National Spina Bifida Patient Registry from 2009 to 2019. We applied generalized estimating equations models to analyze sociodemographic and disease-related factors associated with employment. RESULTS: A total of 1909 participants (850 males, 1059 females) aged 18 to 26 years contributed 4379 annual visits. Nearly 84% had myelomeningocele and, at last visit, the median age was 21 years (mean 21 years 5 months, SD 2 years 10 months). A total of 41.8% had at least some post-high school education, and 23.9% were employed. In a multivariable regression model, employment was significantly associated with education level, lower extremity functional level, bowel continence, insurance, and history of non-shunt surgery. This large, national sample of YASB demonstrated low rates of post-secondary education attainment and employment and several potentially modifiable factors associated with employment. INTERPRETATION: Specific sociodemographic, medical, and functional factors associated with employment are important for clinicians to consider when facilitating transition for YASB into adulthood. Additional research is needed to understand the impact of cognitive functioning and social determinants of health on transition success in YASB.

Hypertensive disorders in pregnancy (HDPs), defined as prepregnancy (chronic) or pregnancy-associated hypertension, are common pregnancy complications in the United States.* HDPs are strongly associated with severe maternal complications, such as heart attack and stroke (1), and are a leading cause of pregnancy-related death in the United States.(†) CDC analyzed nationally representative data from the National Inpatient Sample to calculate the annual prevalence of HDP among delivery hospitalizations and by maternal characteristics, and the percentage of in-hospital deaths with an HDP diagnosis code documented. During 2017-2019, the prevalence of HDP among delivery hospitalizations increased from 13.3% to 15.9%. The prevalence of pregnancy-associated hypertension increased from 10.8% in 2017 to 13.0% in 2019, while the prevalence of chronic hypertension increased from 2.0% to 2.3%. Prevalence of HDP was highest among delivery hospitalizations of non-Hispanic Black or African American (Black) women, non-Hispanic American Indian and Alaska Native (AI/AN) women, and women aged ≥35 years, residing in zip codes in the lowest median household income quartile, or delivering in hospitals in the South or the Midwest Census regions. Among deaths that occurred during delivery hospitalization, 31.6% had any HDP documented. Clinical guidance for reducing complications from HDP focuses on prompt identification and preventing progression to severe maternal complications through timely treatment (1). Recommendations for identifying and monitoring pregnant persons with hypertension include measuring blood pressure throughout pregnancy,(§) including self-monitoring. Severe complications and mortality from HDP are preventable with equitable implementation of strategies to identify and monitor persons with HDP (1) and quality improvement initiatives to improve prompt treatment and increase awareness of urgent maternal warning signs (2).

INTRODUCTION/AIMS: The multidisciplinary Duchenne muscular dystrophy (DMD) Care Considerations were developed to standardize care and improve outcomes. We provide cumulative cost estimates for selected key preventive (i.e., excluding new molecular therapies and acute care) elements of the care considerations in eight domains (neuromuscular, rehabilitation, respiratory, cardiac, orthopedic, gastrointestinal, endocrine, psychosocial management) independent of completeness of uptake or provision of non-preventive care. METHODS: We used de-identified insurance claims data from a large Midwestern commercial health insurer during 2018. We used Current Procedural Terminology and National Drug codes to extract unit costs for clinical encounters representing key preventive elements of the DMD Care Considerations. We projected per-patient cumulative costs from ages 5 to 25years for these elements by multiplying a schedule of recommended frequencies of preventive services by unit costs in 2018 US dollars. RESULTS: Assuming a diagnosis at age 5years, independent ambulation until age 11, and survival until age 25, we estimated 670 billable clinical events. The 20-year per-patient cumulative cost was $174,701 with prednisone ($2.3 million with deflazacort) and an expected total of $12,643 ($29,194) for out-of-pocket expenses associated with those events and medications. DISCUSSION: Standardized monitoring of disease progression and treatments may reduce overall costs of illness. Costs associated with these services would be needed to quantify potential savings. Our approach demonstrates a method to estimate costs associated with implementation of preventive care schedules.

OBJECTIVE: Studies from Europe1 reported a reduction in the preterm birth rates early in the COVID-19 pandemic, but data from other world regions offered conflicting evidence.2 In the United States, evidence on preterm birth and stillbirth rates during the pandemic is also mixed.3,4 Existing studies were often limited to specific US hospitals or states or had missing information on stillbirths. We examined the temporal changes in US preterm birth and stillbirth rates by comparing the prepandemic rates with those during a period of reduced population movement (lockdown) and we investigated the geographic variation in the changes by census regions. | | STUDY DESIGN: We used IQVIA's PharMetrics Plus database (IQVIA, Durham, NC) a large convenience sample of claims data that included about one-fifth of US births covered by commercial health insurance, to compare rates between the lockdown period (AprilJune 2020) and a comparison prepandemic period (AprilJune 2019). We identified singleton delivery hospitalizations at 20 weeks gestation using International Classification of Diseases, Tenth Revision, and Current Procedural Terminology codes. We extracted information about the weeks of gestation and birth outcomes (live birth or stillbirth) for each delivery. Preterm birth rates (birth at <37 weeks gestation), late preterm birth rates (birth at 34 to 36 weeks gestation), and early preterm birth rates (birth at <34 weeks gestation) were examined. Stillbirth rates were also examined. We used a logistic regression to compare the birth outcome rates between the 2 time periods, adjusting for census region and maternal age. Although race and ethnicity data were available through data linkages for 12% of the sample, the missing or unknown category in the linked data was still more than 30%, limiting our ability to adjust for or stratify by this variable. We reported the adjusted rate measured in percentage point (%), adjusted rate difference (ARD), and adjusted rate ratio using predictive margins from each regression model. To examine geographic variation, we used interaction terms between the indicator variables for the time period and census region. | | RESULTS: Among 165,433 privately-insured women with singleton deliveries at 20 weeks gestation during the study periods, 0.2% were stillbirths, and 99.8% were live births; and of the live births, approximately 7% were preterm in both the time periods (Table 1). The adjusted rate of preterm birth during the 2020 lockdown was lower than the adjusted rate during the same months in 2019 (7.0% vs 7.4%; ARD=0.4%; 95% CI, 0.6 to 0.1). There was no change in the adjusted rate of stillbirth (ARD=0.02%; 95% CI, 0.07 to 0.02). The reduction in preterm birth was driven by the decrease in late preterm birth (ARD=0.3%; 95% CI, 0.6 to 0.1) (Table 2). The largest reduction in preterm birth was in the Northeast (ARD=1.1; 95% CI, 1.8 to 0.5) (Table 2).

OBJECTIVE: To assess variations in low-risk cesarean delivery rates in the United States using the Society for Maternal-Fetal Medicine (SMFM) definition of low-risk for cesarean delivery and to identify factors associated with low-risk cesarean deliveries. METHODS: From hospital discharge data in the 2018 National Inpatient Sample and State Inpatient Databases, we identified deliveries that were low-risk for cesarean delivery using the SMFM definition based on the International Classification of Diseases, Tenth Revision, Clinical Modification codes. We estimated national low-risk cesarean delivery rates overall and by patient characteristics, clinically relevant conditions not included in the SMFM definition, and hospital characteristics based on the nationally representative sample of hospital discharges in the National Inpatient Sample. Multivariate logistic regressions were estimated for the national sample to identify factors associated with low-risk cesarean delivery. We reported low-risk cesarean delivery rates for 27 states and the District of Columbia based on the annual state data that represented the universe of hospital discharges from participating states in the State Inpatient Databases. RESULTS: Of an estimated 3,634,724 deliveries in the 2018 National Inpatient Sample, 2,484,874 low-risk deliveries met inclusion criteria. The national low-risk cesarean delivery rate in 2018 was 14.6% (95% CI 14.4-14.8%). The rates varied widely by state (range 8.9-18.6%). Nationally, maternal age older than 40 years, non-Hispanic Black or Asian race, private insurance as primary payer, admission on weekday, obesity, diabetes, or hypertension, large metropolitan residence, and hospitals of the South census region were associated with low-risk cesarean delivery. CONCLUSION: Approximately one in seven low-risk deliveries was by cesarean in 2018 in the United States using the SMFM definition and the low-risk cesarean delivery rates varied widely by state.

INTRODUCTION/AIMS: Duchenne and Becker muscular dystrophies (DBMD) are X-linked neuromuscular disorders characterized by progressive muscle weakness, leading to decreased mobility and multisystem complications. We estimate productivity costs attributable to time spent by a parent caring for a male child under the age of 18 years with DBMD, with particular focus on female caregivers of boys with Duchenne muscular dystrophy (DMD) who have already lost ambulation. METHODS: Primary caregivers of males with DBMD in the Muscular Dystrophy Surveillance and Research Tracking Network (MD STARnet) were surveyed during 2011-2012 on family quality of life measures, including labor market outcomes. Of 211 respondents, 96 female caregivers of boys with DBMD were matched on state, year of survey, respondent's age, child's age, and number of minor children with controls constructed from Current Population Survey extracts. Regression analysis was used to estimate labor market outcomes and productivity costs. RESULTS: Caregivers of boys with DBMD worked 296 hours less per year on average than caregivers of unaffected children, translating to a $8816 earnings loss in 2020 U.S. dollars. Caregivers of boys with DMD with ≥4 years of ambulation loss had a predicted loss in annualized earnings of $23 995, whereas caregivers of boys with DBMD of the same ages who remained ambulatory had no loss of earnings. DISCUSSION: Female caregivers of non-ambulatory boys with DMD face additional household budget constraints through income loss. Failure to include informal care costs in economic studies could understate the societal cost-effectiveness of strategies for managing DMD that might prolong ambulation. This article is protected by copyright. All rights reserved.

We investigated cross-sectional associations between children's neurodevelopment and their gut microbiota composition. Study children (36 months of age) lived in rural China (n = 46). Neurodevelopment was assessed using the Bayley Scales of Infant Development, 2nd Edition, yielding the Mental Developmental Index (MDI) and Psychomotor Developmental Index (PDI). Children's gut microbiota was assessed using 16S rRNA gene profiling. Microbial diversity was characterized using alpha diversity patterns. Additionally, 3 coabundance factors were determined for the 25 most abundant taxa. Multivariable linear regression models were constructed to examine the relationships between Bayley scores (MDI and PDI) and children's gut microbiota. In adjusted models, MDI and PDI scores were not associated with alpha diversity indices. However, in adjusted models, MDI and PDI scores were positively associated with the first coabundance factor, which captured positive loadings for the genera Faecalibacterium, Sutterella, and Clostridium cluster XIVa. For an interquartile range increase in the first coabundance factor, MDI scores increased by 3.9 points [95% confidence interval (CI): 0, 7.7], while PDI scores increased by 8.6 points (95% CI 3.1, 14). Our results highlight the potential for gut microbial compositional characteristics to be important correlates of children's Bayley Scales performance at 36 months of age.

BACKGROUND: Individuals with spina bifida are at increased risk for urinary tract infection (UTI), however there are few population-based investigations of the burden of UTI hospitalizations. OBJECTIVE: We assessed rates and risk factors for UTI hospitalization in individuals with and without spina bifida. METHODS: We conducted a retrospective cohort study to estimate rates of UTI hospitalization by spina bifida status. We included individuals enrolled in Tennessee Medicaid who lived in one of the Emerging Infections Program's Active Bacterial Surveillance counties between 2005 and 2013. Spina bifida was primarily defined and UTI hospitalizations were identified using International Classification of Diseases, Ninth Revision diagnoses. We also studied a subset without specific health conditions potentially associated with UTI. We used Poisson regression to calculate rate ratios (RR) of UTIs for individuals with versus without spina bifida, adjusting for race, sex and age group. RESULTS: Over the 9-years, 1,239,362 individuals were included and 2,493 met criteria for spina bifida. Individuals with spina bifida had over a four-fold increased rate of UTI hospitalization than those without spina bifida-in the overall study population and in the subset without specific, high-risk conditions (adjusted rate ratios: 4.41, 95% confidence intervals: 3.03, 6.43) and (4.87, 95% CI: 2.99, 7.92), respectively. We detected differences in rates of UTI hospitalization by race and sex in individuals without spina bifida that were not seen among individuals with spina bifida. CONCLUSIONS: Individuals with spina bifida had increased rates of UTI hospitalizations, and associated demographic patterns differed from those without spina bifida.

PURPOSE: Chronic kidney disease affects 25-50% of patients with spina bifida. Guidelines recommend kidney function surveillance in these patients, but practice patterns are unknown. Variations in kidney function surveillance were assessed across patients with spina bifida, with the hypothesis that the treating clinic and spina bifida type would be associated with kidney function surveillance. MATERIALS AND METHODS: A retrospective cohort study was conducted from 2013-2018 within the National Spina Bifida Patient Registry in the United States. Follow-up was anchored at the 2013 visit. Participants with either an outcome event within 2 years of follow-up or >2 years of follow-up without an outcome event were included. Primary outcome was kidney function surveillance, defined as at least one renal ultrasound and serum creatinine within 2 years of follow-up. Primary exposures were clinic and spina bifida type, which were analyzed with covariates including sociodemographic and clinical characteristics in logistic regression models for their association with the outcome. Sensitivity analyses were performed using different kidney function surveillance definitions. RESULTS: Of 8351 total patients, 5445 were included, with median 3.0 years' follow-up. Across 23 treating clinics, kidney function surveillance rates averaged 62% (range 6-100%). In multivariable models, kidney function surveillance was associated with clinic, younger age, functional lesion level, non-ambulatory status, and prior bladder augmentation. Treating clinic remained a significant predictor of kidney function surveillance in all sensitivity analyses. CONCLUSIONS: Within the National Spina Bifida Patient Registry, wide variation exists in practice of kidney function surveillance across treating clinics, despite adjustment for key patient characteristics.

Using national data, we examined emergency department (ED) encounters during 2006-2011 for which a diagnosis code for fragile X syndrome (FXS) was present (n = 7,217). Almost half of ED visits coded for FXS resulted in hospitalization, which is much higher than for ED visits not coded for FXS. ED visits among females coded for FXS were slightly more likely to result in hospitalization. These findings underscore the importance of surveillance systems that could accurately identify individuals with FXS, track healthcare utilization and co-occurring conditions, and monitor quality of care in order to improve care and reduce FXS-associated morbidity.

The multidisciplinary model (MCM) is described as one that utilizes skills and experience from practitioners belonging to various disciplines, each treating patients from a specific clinical perspective.(1) The Spina Bifida Association (SBA) supports and recommends that clinical care for people with Spina Bifida (SB) be provided in specialty clinics of which the MCM is an example; that care be coordinated; and that there be a plan for transitional care.(2) This paper explores the challenges the MCM faces with a transitioning and aging population in a care system that calls for a positive patient experience, engaged health care professionals, desired outcomes, with consideration of cost.

OBJECTIVE: Research has not examined the use of health care by patients with myotonic muscular dystrophy (MMD), but it would provide insights into this population, which is prone to comorbidities and high service needs. This study is an analysis of this understudied subgroup, using a unique linked dataset to examine the characteristics and healthcare utilization patterns for people with MMD. METHODS: This analysis used 3 South Carolina datasets (2009-2014). The subjects included individuals with at least 1 encounter with an International Classification of Diseases, Ninth Revision, Clinical Modification code of 359.21. The variables included sex, race, visit type, payer, and diagnoses. The analyses examined characteristics and number of encounters. RESULTS: The subjects were predominately female, white, and 45 to 64 years old. A total of 44.6% of the study population had at least 1 inpatient visit, whereas 64.2% had at least 1 emergency department visit. A majority of the subjects had at least 1 office visit (55.0%), and most (85.3%) did not have a home health encounter. CONCLUSIONS: Investigation of the reasons for these inpatient and emergency department encounters may be helpful in identifying ways to deliver high-quality care.

OBJECTIVE: To estimate differences in the length of stay and costs for comparable hospitalizations of patients with spina bifida (SB) with and without pressure injuries. DESIGN: Retrospective, cross-sectional, observational study. SETTING: Nationwide Inpatient Sample from years 2010 to 2014. PARTICIPANTS: Hospitalized patients with SB. Hospitalizations among patients with SB and pressure injuries (n=3888) were matched to hospitalizations among patients with SB but without pressure injuries (n=3888). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Differences in length of stay and total costs between the two groups. RESULTS: After successful matching, multivariate modelling of costs and length of stay on matched sample showed that hospitalizations with pressure injuries had an increased 1.2 inpatient days and excess average costs of $1,182. CONCLUSIONS: The estimated average cost of hospitalization increased by 10%, and the estimated average length of stay increased by 24% in the presence of pressure injuries among hospitalized patients with SB, compared with their peers without these injuries. These results highlight the substantial morbidity associated with pressure injuries, which are potentially preventable before or during hospitalizations among persons with SB.

INTRODUCTION: This study examines gender differences in adult hospitalizations with myotonic dystrophy (DM). METHODS: From the Nationwide Inpatient Sample (NIS) 2010-2014, we identified 1,891 adult hospitalizations with a DM diagnosis and constructed a comparison group of hospitalizations without DM using propensity score matching. We calculated relative risk by gender for 44 clinical diagnoses that each accounted for at least 5% of DM hospitalizations. RESULTS: Hospitalizations with DM were longer (4.8 vs. 4.1 days, P<.0001) and more costly ($13,241 vs. $11,458, P<.001) than those without DM. More than half (25 of 44) of the conditions co-occurring with DM hospitalizations did not differ in their relative risks by gender. For those that differed by gender, only five were specific to DM, compared with hospitalizations without DM. DISCUSSION: The results highlight the importance of comprehensive and coordinated care for DM rather than gender-oriented care in the inpatient setting. This article is protected by copyright. All rights reserved.

With data quality issues with administrative claims and medically derived datasets, a dataset derived from a combination of sources may be more effective for research. The purposes of this article is to link an EMR-based data warehouse with state administrative data to study individuals with rare diseases; to describe and compare their characteristics; and to explore research with the data. These methods included subjects with diagnosis codes for one of three rare diseases from the years 2009-2014; Spina Bifida, Muscular Dystrophy, and Fragile X Syndrome. The results from the combined data provides additional information that each dataset, by itself, would not contain. The simultaneous examination of data such as race/ethnicity, physician and other outpatient visit data, charges and payments, and overall utilization was possible in the combined dataset. It is also discussed that combining such datasets can be a useful tool for the study of populations with rare diseases.

BACKGROUND: There is a need to examine health care utilization of individuals with the rare conditions muscular dystrophies, spina bifida, and fragile X syndrome. These individuals have a greater need for health care services, particularly inpatient admissions. Prior studies have not yet assessed 30-day all-cause readmission rates. OBJECTIVE: To estimate 30-day hospital readmission rates among individuals with three rare conditions. HYPOTHESIS: Rare conditions patients will have a higher 30-day all-cause readmission rate than those without. METHODS: Data from three sources (2007-2014) were combined for this case-control analysis. A cohort of individuals with one of the three conditions was matched (by age in 5 year age groups, gender, and race) to a comparison group without a rare condition. Inpatient utilization and 30-day all-cause readmission rates were compared between the two groups. Logistic regression analyses compared the odds of a 30-day all-cause readmission across the two groups, controlling for key covariates. RESULTS: A larger proportion in the rare condition group had at least one inpatient visit (46.1%) vs. the comparison group (23.6%), and a higher 30-day all-cause readmission rate (Spina Bifida-46.7%, Muscular Dystrophy-39.7%, and Fragile X Syndrome-35.8%) than the comparison group (13.4%). Logistic regression results indicated that condition status contributed significantly to differences in readmission rates. CONCLUSIONS: Higher rates of inpatient utilization and 30-day all-cause readmission among individuals with rare conditions vs. those without are not surprising, given the medical complexity of these individuals, and indicates an area where unfavorable outcomes may be improved with proper care coordination and post discharge care.

PURPOSE: Achieving bladder continence among people with Spina bifida is a lifetime management goal. We investigated bladder continence status over time and factors associated with this status among people with SB. MATERIALS AND METHODS: We used National Spina Bifida Patient Registry data collected from 2009 through 2015 and applied generalized estimating equation models to analyze factors associated with bladder continence status. RESULTS: This analysis included 5,250 participants with SB in a large, multi-institutional patient registry who contributed 12,740 annual clinic visit records during the study period. At last follow-up, mean age was 16.6 years, 22.4% of the participants had undergone bladder continence surgery, 92.6% used some form of bladder management, and 45.8% reported bladder continence. In a multivariable regression model, the likelihood of bladder continence was significantly higher among those who were older, female, non-Hispanic white, had a non-myelomeningocele diagnosis, a lower level of lesion, a higher mobility level, and private insurance. Both continence surgery history and current management were also associated with continence independent of all other factors (adjusted ORs and 95% CI: 1.9, 1.7 - 2.1, and 3.8, 3.2 - 4.6, respectively). The association between bladder management and continence was stronger for those with a myelomeningocele diagnosis (adjusted OR=4.6) than with non-myelomeningocele (OR= 2.8). CONCLUSIONS: In addition to demographic, social, and clinical factors, surgical intervention and bladder management are significantly and independently associated with bladder continence status among people with SB. The association between bladder management and continence was stronger among people with myelomeningocele.

PURPOSE: Recent studies have revealed that the lack of continuity in preparing patients with spina bifida to transition into adult-centered care may have detrimental health consequences. We sought to describe current practices of transitional care services offered at spina bifida clinics in the US. METHODS: Survey design followed the validated transitional care survey by the National Cystic Fibrosis center. Survey was amended for spina bifida. Face validity was completed. Survey was distributed to registered clinics via the Spina Bifida Association. Results were analyzed via descriptive means. RESULTS: Total of 34 clinics responded. Over 90 characteristics were analyzed per clinic. The concept of transition is discussed with most patients. Most clinics discuss mobility, bowel and bladder management, weight, and education plans consistently. Most do not routinely evaluate their process or discuss insurance coverage changes with patients. Only 30% communicate with the adult providers. Sexuality, pregnancy and reproductive issues are not readily discussed in most clinics. Overall clinics self-rate themselves as a 5/10 in their ability to provide services for their patients during transition. CONCLUSIONS: Characteristics of current transitional care services and formal transitional care programs at US clinics show wide variances in what is offered to patients and families.

OBJECTIVES: To evaluate growth patterns of ambulatory males with Duchenne muscular dystrophy (DMD) treated with corticosteroids compared with ambulatory, steroid-naive males with DMD and age-matched unaffected general-population males and to test associations between growth and steroid treatment patterns among treated males. STUDY DESIGN: Using data from the Muscular Dystrophy Surveillance, Tracking, and Research Network, we identified a total of 1768 height, 2246 weight, and 1755 body mass index (BMI) measurements between age 2 and 12 years for 324 ambulatory males who were treated with corticosteroids for at least 6 months. Growth curve comparisons and linear mixed-effects modeling, adjusted for race/ethnicity and birth year, were used to evaluate growth and steroid treatment patterns (age at initiation, dosing interval, duration, cumulative dose). RESULTS: Growth curves for ambulatory males treated with corticosteroids showed significantly shorter stature, heavier weight, and greater BMI compared with ambulatory, steroid-naive males with DMD and general-population US males. Adjusted linear mixed-effects models for ambulatory males treated with corticosteroids showed that earlier initiation, daily dosing, longer duration, and greater dosages predicted shorter stature with prednisone. Longer duration and greater dosages predicted shorter stature for deflazacort. Daily prednisone dosing predicted lighter weight, but longer duration, and greater dosages predicted heavier weight. Early initiation, less than daily dosing, longer duration, and greater doses predicted greater BMIs. Deflazacort predicted shorter stature, but lighter weight, compared with prednisone. CONCLUSION: Prolonged steroid use is significantly associated with short stature and heavier weight. Growth alterations associated with steroid treatment should be considered when making treatment decisions for males with DMD.

The mission of public health has been succinctly stated as “the fulfillment of society’s interest in assuring conditions in which people can be healthy” (1). Public and private institutions charged with this mission monitor population health and respond when threats arise. These may be sudden health crises (eg, infectious outbreaks), persistent health problems (eg, chronic diseases), or buildups of environmental risk factors (eg, pollution). Public health practitioners use a combination of disciplines that include basic science, clinical research, epidemiology, statistics, behavioral research, health care services, economics, and policy to identify the primary or secondary causes of health threats and then systematically prevent, mitigate, or suppress these causes in entire populations. This approach has been tremendously successful against infectious diseases and has had notable successes against injuries, accidents, and major chronic diseases (2,3). The purpose of this essay is to highlight the case of a group of nearly 7,000 rare (low-prevalence) diseases, mostly of genetic or congenital origin, for which the applicability of the public health approach, primary prevention in particular, seems limited. We argue that a wider application of this approach could greatly benefit the patients affected by these diseases and their relatives. We start by presenting the challenges of implementing this approach for rare diseases, then we present the need for such an approach and a few notable examples of its successful application to these diseases. Finally, we provide a structured list of public health activities that are key to the management of rare diseases in populations. | A rare disease is a condition that affects fewer than 200,000 people in the United States or no more than 1 of every 2,000 people in Europe (4). Examples of rare diseases are life-threatening and physically or mentally disabling conditions such as Huntington disease, spina bifida, fragile X syndrome, Guillain-Barré syndrome, Crohn disease, cystic fibrosis, and Duchenne muscular dystrophy. Possibly the main reason for the limited applicability of the public health approach to rare diseases is that patients are few and scattered across populations. But another reason is that approaches based on identifying and removing risk factors are generally not well-suited for diseases whose primary risk factors are innate or congenital and therefore irremovable.

The authors investigated 48 deaths (7% death rate) among 690 adolescents and young adults with spina bifida in South Carolina during 2000-2010. The authors used Medicaid and other administrative data and a retrospective cohort design that included people with spina bifida identified using ICD-9 codes. Cox regression models with time-dependent and time-invariant covariates, and Kaplan-Meier survival curves were constructed. The authors found that 21.4% of the study group had a skin ulcer during the study period and individuals with skin ulcers had significantly higher mortality than those without ulcers (P < .0001). People who had their first skin ulcer during adolescence had higher mortality than those who had the first skin ulcer during young adulthood (P = .0002; hazard ratio = 10.70, 95% confidence interval for hazard ratio: 3.01, 38.00) and those without skin ulcers, controlling for other covariates. This study showed that age at which individuals first had a skin ulcer was associated with mortality.

We compared hospital encounters between adolescents and young adults with fragile X syndrome (FXS) to peers with intellectual disability (ID) from other causes, autism spectrum disorder (ASD), and a comparison group without these conditions matched by gender, age, and insurance coverage. Those with FXS, ASD, or ID were more likely to have had hospital encounters. In terms of age groups, we found mental illness hospitalizations decreased during adulthood as compared to adolescence for those with FXS, and we found that for conditions unrelated to FXS (e.g., respiratory, genitourinary, gastroenteritis, and pneumonia) adolescents had higher rates of hospitalization compared to their peers with FXS, ID, or ASD. We analyzed epilepsy, common among people with FXS and designated as an ambulatory care sensitive condition that can be treated outside the hospital, and found that people with FXS, ID, and ASD had higher odds of hospitalization due to epilepsy in both age groups than did the comparison group.

There is a need for research that focuses on the correlation between self-perceived quality of life (QoL) and the health outcomes of adolescents with disability transitioning to adulthood. To better understand the transition experience of adolescents and young adults with disability, we developed a questionnaire to assess the impact of disability on QoL. We recruited 174 participants who were 15-24 years old and diagnosed with Fragile X syndrome (FXS), spina bifida (SB) or muscular dystrophy (MD) and conducted an exploratory factor analysis to identify factors that characterize QoL. Five factors emerged: emotional health, physical health, independence, activity limitation, and community participation. To validate the tool, we linked medical claims and other administrative data records and examined the association of the factor scores with health care utilization and found the questionnaire can be utilized among diverse groups of young people with disability.

BACKGROUND: For people with muscular dystrophy (MD) health care access is crucial and utilization is expected to be high. A multidisciplinary approach is needed for optimal management of symptoms of this rare condition. Regular primary care, specialty care, therapy, and medicine use can improve quality of care and reduce need for emergency treatment and hospitalization. We analyzed health insurance and administrative data to test for racial disparities in regular care use among teenagers and young adults with MD. METHODS: We used South Carolina Medicaid and other administrative data for individuals aged 15-24 years to determine annual health care utilization patterns for individuals with MD by race. We studied adolescents and young adults with MD because this age group represents a time when the condition is typically intensifying and the transition from pediatric to adult care is expected. We used Generalized Estimating Equation models to analyze longitudinal utilization data conditional on other factors that may lead to utilization differences. RESULTS: Race is correlated with health care utilization among adolescents and young adults with MD. Blacks have lower overall utilization, and less primary care, therapy, and specialist care use but higher incidence of hospitalization and emergency treatment use compared with whites and also to other races. The most striking disparity was the use of outpatient services. Blacks utilized these services 50% less compared with whites and 70% less compared with others. Even in regression analysis, where we take into account individual unobserved factors and allow clustering at the individual level, these differences remained and were in most cases statistically significant. CONCLUSIONS: Our results indicate that there are differences in health care utilization by race even when individuals have access to the same health care benefits. This means simply offering coverage to individuals with MD may not be sufficient in eliminating health disparities. Future studies will be needed to examine other possible sources of these racial disparities, such as resource awareness, health knowledge, or access barriers such as transportation.

PURPOSE: We described the characteristics, treatments, and survival of persons with spina bifida (SB) who developed end stage renal disease (ESRD) from 2004 through 2008 in the United States Renal Data System (USRDS). MATERIALS AND METHODS: We used ICD-9-CM code 741.* to identify persons with SB from hospital inpatient data (1977-2010) and physician and facility claims (2004-2008). We constructed a 5:1 comparison group of ESRD patients without SB matched by age at first ESRD service, gender, and race/ethnicity. We assessed their risk of mortality and of renal transplant while on dialysis using multivariate cause-specific proportional hazards survival analyses. We also compared their survival after their first renal transplant from first ESRD service to August 2011. RESULTS: We identified 439 ESRD patients with SB, who on average developed ESRD at younger ages than patients without SB (41 vs. 62 years, P<0.001) and urological issues were the most common primary cause of their ESRD. Compared to ESRD patients without SB, patients with SB had similar mortality hazard on dialysis and after a transplant. But ESRD patients without SB were more likely to undergo renal transplantation than patients with SB (hazard ratio=1.51, 95% CI=1.13-2.03). Hospitalizations related to urinary tract infections (UTIs) were positively associated with risk of death on dialysis for ESRD patients with SB (hazard ratio=1.42, 95% CI=1.33-1.53). CONCLUSIONS: SB was not associated with elevated mortality among ESRD patients on dialysis or after a renal transplant. Proper urological and bladder management for patients with SB, particularly for adults, is imperative.