Fragile X Syndrome-Associated Emergency Department Visits in the United States, 2006-2011.

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.

Which one? What kind? How many? Types, causes, and prevalence of disability among U.S. adults.

BACKGROUND: Quantifying the number of people with and types of disabilities is helpful for medical, policy, and public health planning. OBJECTIVE/HYPOTHESIS: To update prior estimates on types, prevalence, and main causes of disability among U.S. adults using the Survey of Income and Program Participation (SIPP) data. METHODS: We used cross-sectional data from the SIPP 2008 Panel Wave 6 interviews collected May-August 2010. Analyses were restricted to non-institutionalized adults ages ≥18 years (n = 66,410). Disability was ascertained via five non-mutually exclusive components: 1) specific activity difficulties, 2) selected impairments, 3) use of an assistive aid, 4) household work limitations, and 5) paid work limitations. Prioritized main cause of disability was established for the 95% of respondents with a disability type eligible for health condition questions. We generated weighted population estimates (number and percentage, with 95% confidence intervals (CIs)), accounting for the complex sample survey design. RESULTS: 50 million U.S. adults (21.8%) experienced a disability in 2010. Mobility-related activity limitations were the most prevalent disabilities across all five components. The most common main causes of disability were arthritis/rheumatism, 9.1 million (19.2%, 95% CI = 18.4-20.0) and back or spine problems, 8.9 million (18.6%, 95% CI = 17.9-19.3). CONCLUSIONS: A growing population with disabilities has the potential to put considerable and unsustainable demand on medical, public health, and senior service systems. Strengthening clinical community linkages and expanding the availability of existing evidence-based public health interventions to prevent, delay, and mitigate the effects of disability could improve health and outcomes for people with disabilities.

Differences in Length of Stay and Costs Between Comparable Hospitalizations of Patients With Spina Bifida With or Without Pressure Injuries.

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 2010-2014. PARTICIPANTS: Hospitalizations of patients with SB (N=7776). 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 2 groups. RESULTS: After successful matching, multivariate modeling 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 $1182 in 2014 dollars. 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.

Gender difference in clinical conditions among hospitalized adults with myotonic dystrophy.

INTRODUCTION: In this study we examined 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 < 0.0001) and more costly ($13,241 vs. $11,458, P < 0.0001) 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 5 were specific to DM, compared with hospitalizations without DM. DISCUSSION: Our findings highlight the importance of comprehensive and coordinated care for DM rather than gender-oriented care in the inpatient setting. Muscle Nerve 59:348-353, 2019.

Evaluating Implementation of the Updated Care Considerations for Duchenne Muscular Dystrophy.

Care Considerations for Duchenne Muscular Dystrophy were published in 2010. However, little is known about the extent to which these considerations were implemented after publication. With this article, we provide direction on evaluating the uptake of the 2018 Duchenne Muscular Dystrophy Care Considerations. We identify key elements of care and present suggestions for their use in evaluation and research.

Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.

BACKGROUND: For 10 years, the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) conducted surveillance for Duchenne and Becker muscular dystrophy (DBMD). We piloted expanding surveillance to other MDs that vary in severity, onset, and sources of care. METHODS: Our retrospective surveillance included individuals diagnosed with one of nine eligible MDs before or during the study period (January 2007-December 2011), one or more health encounters, and residence in one of four U.S. sites (Arizona, Colorado, Iowa, or western New York) at any time within the study period. We developed case definitions, surveillance protocols, and software applications for medical record abstraction, clinical review, and data pooling. Potential cases were identified by International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes 359.0, 359.1, and 359.21 and International Classification of Diseases, Tenth Revision (ICD-10) codes G71.0 and G71.1. Descriptive statistics were compared by MD type. Percentage of MD cases identified by each ICD-9-CM code was calculated. RESULTS: Of 2,862 cases, 32.9% were myotonic, dystrophy 25.8% DBMD, 9.7% facioscapulohumeral MD, and 9.1% limb-girdle MD. Most cases were male (63.6%), non-Hispanic (59.8%), and White (80.2%). About, half of cases were genetically diagnosed in self (39.1%) or family (6.2%). About, half had a family history of MD (48.9%). The hereditary progressive MD code (359.1) was the most common code for identifying eligible cases. The myotonic code (359.21) identified 83.4% of eligible myotonic dystrophy cases (786/943). CONCLUSIONS: MD STARnet is the only multisite, population-based active surveillance system available for MD in the United States. Continuing our expanded surveillance will contribute important epidemiologic and health outcome information about several MDs.

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.

A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive diagnostic techniques and the earlier use of therapeutic interventions, which have the potential to improve patients' duration and quality of life. In part 2 of this update of the DMD care considerations, we present the latest recommendations for respiratory, cardiac, bone health and osteoporosis, and orthopaedic and surgical management for boys and men with DMD. Additionally, we provide guidance on cardiac management for female carriers of a disease-causing mutation. The new care considerations acknowledge the effects of long-term glucocorticoid use on the natural history of DMD, and the need for care guidance across the lifespan as patients live longer. The management of DMD looks set to change substantially as new genetic and molecular therapies become available.

Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.

New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186-191, 2016.

Measuring quality of life in muscular dystrophy.

OBJECTIVES: The objectives of this study were to develop a conceptual model of quality of life (QOL) in muscular dystrophies (MDs) and review existing QOL measures for use in the MD population. METHODS: Our model for QOL among individuals with MD was developed based on a modified Delphi process, literature review, and input from patients and patient advocacy organizations. Scales that have been used to measure QOL among patients with MD were identified through a literature review and evaluated using the COSMIN (Consensus-Based Standards for the Selection of Health Measurement Instruments) checklist. RESULTS: The Comprehensive Model of QOL in MD (CMQM) captures 3 broad domains of QOL (physical, psychological, and social), includes factors influencing self-reported QOL (disease-related factors, support/resources, and expectations/aspirations), and places these concepts within the context of the life course. The literature review identified 15 QOL scales (9 adult and 6 pediatric) that have been applied to patients with MD. Very few studies reported reliability data, and none included data on responsiveness of the measures to change in disease progression, a necessary psychometric property for measures included in treatment and intervention studies. No scales captured all QOL domains identified in the CMQM model. CONCLUSIONS: Additional scale development research is needed to enhance assessment of QOL for individuals with MD. Item banking and computerized adaptive assessment would be particularly beneficial by allowing the scale to be tailored to each individual, thereby minimizing respondent burden.

Prevalence of Duchenne and Becker muscular dystrophies in the United States.

OBJECTIVE: To estimate prevalence of childhood-onset Duchenne and Becker muscular dystrophies (DBMD) in 6 sites in the United States by race/ethnicity and phenotype (Duchenne muscular dystrophy [DMD] or Becker muscular dystrophy [BMD]). METHODS: In 2002, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to conduct longitudinal, population-based surveillance and research of DBMD in the United States. Six sites conducted active, multiple-source case finding and record abstraction to identify MD STARnet cases born January 1982 to December 2011. We used cross-sectional analyses to estimate prevalence of DBMD per 10 000 boys, ages 5 to 9 years, for 4 quinquennia (1991-1995, 1996-2000, 2001-2005, and 2006-2010) and prevalence per 10 000 male individuals, ages 5 to 24 years, in 2010. Prevalence was also estimated by race/ethnicity and phenotype. RESULTS: Overall, 649 cases resided in an MD STARnet site during ≥1 quinquennia. Prevalence estimates per 10 000 boys, ages 5 to 9 years, were 1.93, 2.05, 2.04, and 1.51, respectively, for 1991-1995, 1996-2000, 2001-2005, and 2006-2010. Prevalence tended to be higher for Hispanic individuals than non-Hispanic white or black individuals, and higher for DMD than BMD. In 2010, prevalence of DBMD was 1.38 per 10 000 male individuals, ages 5 to 24 years. CONCLUSIONS: We present population-based prevalence estimates for DBMD in 6 US sites. Prevalence differed by race/ethnicity, suggesting potential cultural and socioeconomic influences in the diagnosis of DBMD. Prevalence also was higher for DMD than BMD. Continued longitudinal surveillance will permit us to examine racial/ethnic and socioeconomic differences in treatment and outcomes for MD STARnet cases.

Characteristics and survival of patients with end stage renal disease and spina bifida in the United States renal data system.

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

A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability.

This study compares the family financial and employment impacts of having a child with fragile X syndrome (FXS), autism spectrum disorder (ASD), or intellectual disabilities (ID). Data from a 2011 national survey of families of children with FXS were matched with data from the National Survey of Children with Special Health Care Needs 2009-2010 to form four analytic groups: children with FXS (n=189), children with special health care needs with ASD only (n=185), ID only (n=177), or both ASD and ID (n=178). Comparable percentages of parents of children with FXS (60%) and parents of children with both ASD and ID (52%) reported that their families experienced a financial burden as a result of the condition, both of which were higher than the percentages of parents of children with ASD only (39%) or ID only (29%). Comparable percentages of parents of children with FXS (40%) and parents of children with both ASD and ID (46%) reported quitting employment because of the condition, both of which were higher than the percentages of parents of children with ID only (25%) or ASD only (25%). In multivariate analyses controlling for co-occurring conditions and functional difficulties and stratified by age, adjusted odds ratios for the FXS group aged 12-17 years were significantly elevated for financial burden (2.73, 95% CI 1.29-5.77), quitting employment (2.58, 95% CI 1.18-5.65) and reduced hours of work (4.34, 95% CI 2.08-9.06) relative to children with ASD only. Among children aged 5-11 years, the adjusted odds ratios for the FXS group were elevated but statistically insignificant for financial burden (1.63, 95% CI 0.85-3.14) and reducing hours of work (1.34, 95% CI 0.68-2.63) relative to children with ASD only. Regardless of condition, co-occurring anxiety or seizures, limits in thinking, reasoning, or learning ability, and more irritability were significantly associated with more caregiver financial and employment impacts. Proper management of anxiety or seizures and functional difficulties of children with FXS or other developmental disabilities may be important in alleviating adverse family caregiver impacts.

Health risk behaviors among young adults with spina bifida.

AIM: Persons with spina bifida who adopt unhealthy lifestyles could be at increased risk of adverse health outcomes because the presence of spina bifida may magnify this risk. We estimated overall and age-specific prevalence of selected health risk behaviors (HRBs) in young people with spina bifida and examined the association between HRBs and depression. METHOD: We performed analyses on data obtained from individuals with spina bifida (n=130; mean age 23y SD 4y 5mo; 64 males, 66 females; 64% lumbosacral lesion; 77% with shunt) who participated in a population-based survey conducted by the Arkansas Spinal Cord Commission in 2005. RESULTS: Compared with national estimates, young people with spina bifida tend to eat less healthy diets, do less exercise, and engage in more sedentary activities. Respondents were less likely to use substances (alcohol, tobacco, illegal drugs), which peaked among 25 to 31 year olds. About 90% saw a doctor in the previous year. Nearly one half reported mild or major depressive symptoms. In the logistic regression analysis after controlling for potential confounders (age, sex, ethnic group, education, employment, marital status, living arrangement, level of lesion, presence of shunt, mobility, self-rated health and healthcare utilization), major depressive symptoms were associated with current alcohol drinking (adjusted odds ratio: 4.74; 95% CI 1.18-19.04). INTERPRETATION: Young adults with spina bifida exhibit unhealthy behaviors that continue into their late 20s. The findings highlight the need to increase awareness of their health risk profiles in the spina bifida community and show opportunities for mental health and health risk screening and counseling by healthcare providers.

Developing an integrated strategy to reduce ethnic and racial disparities in the delivery of clinical preventive services for older Americans.

OBJECTIVES: To determine the optimum strategy for increasing up-to-date (UTD) levels in older Americans, while reducing disparities between White, Black, and Hispanic adults, aged 65 years and older. METHODS: Data were analyzed from the 2008 Behavioral Risk Factor Surveillance System, quantifying the proportion of older Americans UTD with influenza and pneumococcal vaccinations, mammograms, Papanicolaou tests, and colorectal cancer screening. A comparison of projected changes in UTD levels and disparities was ascertained by numerically accounting for UTD adults lacking 1 or more clinical preventive services (CPS). Analyses were performed by gender and race/ethnicity. RESULTS: Expanded provision of specific vaccinations and screenings each increased UTD levels. When those needing only vaccinations were immunized, there was a projected decrease in racial/ethnic disparities in UTD levels (2.3%-12.2%). When those needing only colorectal cancer screening, mammography, or Papanicolaou test were screened, there was an increase in UTD disparities (1.6%-4.5%). CONCLUSIONS: A primary care and public health focus on adult immunizations, in addition to other CPS, offers an effective strategy to reduce disparities while improving UTD levels.

Potential moderating role of seat belt law on the relationship between seat belt use and adverse health behavior.

OBJECTIVE: To determine the potential moderating effect of seat belt law on seat belt compliance among persons who engage in adverse health behaviors. METHODS: Self-reported use of seat belts and adverse health behaviors in a 2008 US state-based population survey. RESULTS: Seat belt law moderates the use of seat belts among males and females who smoked, males who were physically inactive, and males and females who engaged in multiple risk behaviors. CONCLUSION: There is a need to supplement legislative interventions with more focused behavioral approaches to further increase seat belt compliance among persons who engage in adverse risk behaviors.

A national profile of health care and family impacts of children with muscular dystrophy and special health care needs in the United States.

We used the 2005-2006 National Survey of Children with Special Health Care Needs to compare 3 types of outcomes between children with and those without parental reported muscular dystrophy: (1) functional limitations; (2) health care experiences in terms of the 5 components of a medical home; and (3) family impacts, including financial or out-of-pocket costs and parental employment and time use. We used weighted logistic regression to examine their associations with muscular dystrophy after adjustment for socio-demographic characteristics. Among children with special health care needs, children with reported muscular dystrophy were much more likely to have difficulties with ambulation and self-care. They were more likely to have family members who reported financial problems, reduced or stopped employment, and spent more than 10 hours weekly providing or coordinating care. Muscular dystrophy was not associated with the likelihood of having a medical home after adjustment for socioeconomic status and other socio-demographic characteristics.

Health-related quality of life of US adults with arthritis: analysis of data from the behavioral risk factor surveillance system, 2003, 2005, and 2007.

OBJECTIVE: To describe the health-related quality of life (HRQOL) of persons with and without arthritis in the 50 US states and the District of Columbia, and to determine correlates of poor HRQOL in persons with arthritis. METHODS: Data from the Behavioral Risk Factor Surveillance System were used. Descriptive analyses were age standardized and multivariate analyses used logistic regression. RESULTS: Of persons ages ≥18 years with arthritis, 27% reported fair/poor health, compared to 12% without arthritis. The mean numbers of physically unhealthy, mentally unhealthy, and activity-limited days for persons with arthritis exceeded those for persons without arthritis. In regression analyses, black non-Hispanics reported better HRQOL than white non-Hispanics, especially in the ≥14 versus 0 days comparisons. Yet no difference existed in self-reported health status between these two groups. Having a low family income and being unable to work were both strongly associated with poor HRQOL. Being physically active was associated with better HRQOL. Binge drinking was associated with poor HRQOL for some measures, but was associated with better self-reported health. Cost being a barrier to care and having diabetes mellitus were strongly associated with worse HRQOL. CONCLUSION: Adults from the US with arthritis had worse HRQOL than those without. Physical health and mental health were both affected by arthritis; therefore, efforts to alleviate the arthritis burden should address both domains. Given the current and projected high prevalence of arthritis, we face a significant burden of poor HRQOL. Increasing physical activity, reducing comorbidities, and increasing access to health care could improve the HRQOL of persons with arthritis.

Routine checkups don't ensure that seniors get preventive services.

BACKGROUND: A small number of preventive services are recommended for all adults ages 65 years and older. It is well established that the combined delivery or being "up to date" on these measures is low. However, the effect of routine checkups on being up to date is not known. We examined the association between routine checkups and the delivery of a group of recommended clinical preventive services for US adults ages 65 and older. METHODS: In 2006 the Behavioral Risk Factor Surveillance System conducted telephone surveys. Participants ages 65 years and older were randomly selected in 50 states and the District of Columbia. Sample sizes were 32,243 male respondents and 58,762 female respondents. A composite measure was used that includes screening for colorectal, cervical, and breast cancers, and vaccinations against influenza and pneumococcal disease. The measure quantifies the percentage of adults who are up to date according to recommended schedules. RESULTS: Most adults ages 65 and older were fully insured, had a personal health care provider, reported no cost barrier to seeing a doctor in the past year, and had recently received a routine checkup. Associations between high health care access and checkups and the increased likelihood of being up to date on clinical preventive services were statistically significant. Although a large percentage of the population had high access to care and reported having a recent checkup, the percentage of all those who were up to date was low, and it was only slightly greater for those with high access or a recent checkup (42.6%, 45.1%, and 44.8%, respectively, for men; 35.2%, 37.0%, and 36.8%, respectively for women). For both sexes, the results varied by education, race/ethnicity, marriage, insurance, health, and state. CONCLUSIONS: Our study indicates that increasing the use of routine medical checkups will have a negligible impact on the delivery of preventive services.