Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.

Background and Objectives: To report the genetic etiologies of Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), congenital muscular dystrophy (CMD), and distal muscular dystrophy (DD) in 6 geographically defined areas of the United States. Methods: This was a cross-sectional, population-based study in which we studied the genes and variants associated with muscular dystrophy in individuals who were diagnosed with and received care for EDMD, LGMD, CMD, and DD from January 1, 2008, through December 31, 2016, in the 6 areas of the United States covered by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Variants of unknown significance (VUSs) from the original genetic test reports were reanalyzed for changes in interpretation. Results: Among 243 individuals with definite or probable muscular dystrophy, LGMD was the most common diagnosis (138 cases), followed by CMD (62 cases), DD (22 cases), and EDMD (21 cases). There was a higher proportion of male individuals compared with female individuals, which persisted after excluding X-linked genes (EMD) and autosomal genes reported to have skewed gender ratios (ANO5, CAV3, and LMNA). The most common associated genes were FKRP, CAPN3, ANO5, and DYSF. Reanalysis yielded more definitive variant interpretations for 60 of 144 VUSs, with a mean interval between the original clinical genetic test of 8.11 years for all 144 VUSs and 8.62 years for the 60 reclassified variants. Ten individuals were found to have monoallelic pathogenic variants in genes known to be primarily recessive. Discussion: This study is distinct for being an examination of 4 types of muscular dystrophies in selected geographic areas of the United States. The striking proportion of resolved VUSs demonstrates the value of periodic re-examinations of these variants. Such re-examinations will resolve some genetic diagnostic ambiguities before initiating repeat testing or more invasive diagnostic procedures such as muscle biopsy. The presence of monoallelic pathogenic variants in recessive genes in our cohort indicates that some individuals with muscular dystrophy continue to face incomplete genetic diagnoses; further refinements in genetic knowledge and diagnostic approaches will optimize diagnostic information for these individuals.

Opioid Prescription Patterns for Adults With Longstanding Disability and Inflammatory Conditions Compared to Other Users, Using a Nationally Representative Sample.

OBJECTIVES: To investigate the opioid prescription patterns for adults with longstanding physical disability and inflammatory conditions, compared to a mixed group of other opioid users, after excluding cancer patients. DESIGN: Nationally representative cross-sectional study, 2010-2014. SETTING: Medical Expenditure Panel Survey (MEPS). PARTICIPANTS: The participants (N=7134) were adults who participated in MEPS and had at least 1 opioid prescription, did not have cancer, and were between 18 years and 64 years of age. The participants were grouped as longstanding physical disability (group 1), inflammatory conditions (group 2), and a mixed group with at least 1 opioid prescription during the 2-year study period (comparison group). Participants with both groups of conditions were excluded. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Morphine milligram equivalent (MME) doses for each participant were cumulated over a 2-year panel period. RESULTS: By using quantile regression, cumulative MME in groups 1 and 2 was higher than the comparison group across all the percentiles, and differences between condition groups and comparison group became larger in higher percentiles. Participants in group 1 had the highest cumulative MME in 75th and 90th percentiles after controlling for other covariates. CONCLUSIONS: This study documented the opioid prescription patterns for patients with longstanding physical disability or inflammatory conditions. All indexed groups (groups 1 and 2) had higher MME use compared to the comparison group.

Physical Activity and Disability: An Analysis on How Activity Might Lower Medical Expenditures.

BACKGROUND: This study evaluated the effect of increased physical activity on annual medical expenditures among people with disability, as well as people without disability. METHODS: We performed a cross-sectional study with linked national survey data from 2004 to 2013 Medical Expenditure Panel Survey and from 2002 to 2012 National Health Interview Study. We investigated the effect of physical activity on the annual medical expenditures in 2013 US dollars, among people with and without disability who were 18- to 64-year-old adults. RESULTS: For people with disability, we found a statistically significant effect (P < .05) of physical activity on annual medical expenditures. Among people without disability, being inactive was associated with higher medical expenditures, compared with being sufficiently active. In our counterfactual analysis, among inactive people with disability, increasing activity to even a low level of activity could potentially save on average $2150.06 (95% confidence interval, 770.39 to 3529.72) annual medical costs. CONCLUSIONS: This analysis provides evidence that when an individual with a disability moves from inactive to active, the savings in medical expenditures are substantially larger than the savings for an individual without a disability ($2564.33 vs $393.34). Despite the challenge of participating in physical activity for people with disability, completing "some" activity may have large public health implications.

A longitudinal assessment of adherence to breast and cervical cancer screening recommendations among women with and without intellectual disability.

Each year in the United States, about 4000 deaths are attributed to cervical cancer, and over 40,000 deaths are attributed to breast cancer (U.S. Cancer Statistics Working Group, 2015). The purpose of this study was to identify predictors of full, partial, and no screening for breast and cervical cancer among women with and without intellectual disability (ID) who are within the age group for screening recommended by the U.S. Preventive Service Task Force (USPSTF), while accounting for changes in recommendations over the study period. Women with ID and an age matched comparison group of women without ID were identified using merged South Carolina Medicaid and Medicare files from 2000 to 2010. The sample consisted of 9406 and 16,806 women for mammography screening and Papanicolaou (Pap) testing adherence, respectively. We estimated multinomial logistic regression models and determined that women with ID were significantly less likely than women without ID to be fully adherent compared to no screening with mammography recommendations (adjusted odds ratio [AOR]: 0.63, 95% confidence interval [CI] 0.55-0.72), and Pap testing recommendations (AOR: 0.17, 95% CI 0.16-0.19). For the 70% of women with ID for whom we had residential information, those who lived in a group home, medical facility, or supervised community living setting were more likely to be fully adherent with both preventive services than those living alone or with family members. For both outcomes, women residing in a supervised nonmedical community living setting had the highest odds of full adherence, adjusting for other covariates.

Colorectal Cancer Screening Adherence in Selected Disabilities Over 10 Years.

INTRODUCTION: Colorectal cancer (CRC) is the second leading cause of cancer mortality in the U.S.; however, if the population aged 50 years or older received routine screening, approximately 60% of these deaths could be eliminated. This study investigates whether adults, aged 50-75 years, with one of three disabilities (blind/low vision [BLV], intellectual disability [ID], spinal cord injury [SCI]) receive CRC screening at rates equivalent to adults without the three disabilities, by accounting for combinations of recommended CRC screenings during a 10-year period (colonoscopy, sigmoidoscopy, fecal occult blood test). METHODS: South Carolina Medicaid and Medicare, State Health Plan, and hospital discharge data (2000-2009) were analyzed (2013-2015) to estimate the proportion of adherence to and adjusted odds of CRC screening over time among adults with one of the three disabilities, BLV, ID, or SCI, versus adults without these conditions. RESULTS: The estimated proportion of adults who adhere to changing recommendations over time was lower for adults with ID (34.32%) or SCI (44.14%) compared with those without these disabilities (48.48%). All three case groups had significantly lower AORs of adherence versus those without (BLV: AOR=0.88, 95% CI=0.80, 0.96; ID: AOR=0.55, 95% CI=0.52, 0.59; SCI: AOR=0.88, 95% CI=0.82, 0.95). CONCLUSIONS: In this study, adults with BLV, ID, or SCI were less likely to receive and adhere to CRC screening recommendations than those without these disabilities. This method provides a thorough evaluation of adherence to CRC screening by considering levels of adherence during each month of Medicaid or Medicare coverage.

Adherence to US Preventive Services Task Force recommendations for breast and cervical cancer screening for women who have a spinal cord injury.

CONTEXT: Women with spinal cord injury (SCI) may face barriers that result in disparities in receipt of recommended mammography and Papanicolaou testing. SETTING: South Carolina. PARTICIPANTS: South Carolina women with SCI were identified using International Classification of Diseases codes in 2000-2010 Medicaid and Medicare billing data. OUTCOME MEASURES: Receipt of mammography and Pap testing was determined using procedure billing codes. Partial proportional odds models were estimated to examine the association between SCI and adherence with screening recommendations from the United States Preventive Services Task Force. Each individual's screening experience was classified as full adherence, partial adherence, or no screening. RESULTS: The cohort for mammography consisted of 3,173 women with SCI and 6,433 comparison women without SCI. The cohort for Pap testing consisted 5,025 women with SCI and 9,538 comparison women. Women with SCI were less likely to have full adherence with mammography recommendations (aOR = 0.69, 95% CI 0.64, 0.76) and Pap test recommendations (aOR = 0.53, 95% CI 0.49, 0.57). They were more likely to have no mammography screening (aOR = 1.44, 95% CI 1.33, 1.57) and no Pap testing (aOR = 1.89, 95% CI 1.77, 2.03) than women without SCI. CONCLUSION: Using longitudinal data with multiple outcome levels, women with SCI were less likely to be fully adherent with receipt of recommended breast and cervical cancer screenings and more likely to have no screenings during the eligible years when compared to women without SCI.

Women with Visual Impairment and Insured by Medicaid or Medicare Are Less Likely to Receive Recommended Screening for Breast and Cervical Cancers.

PURPOSE: To investigate whether women with visual impairment (VI) receive mammography and Pap testing to the same extent as women without VI among the low income population or those aged 65+ years. METHODS: We analyzed the 2000-2010 Medicaid and Medicare data for South Carolina women. Women with VI were identified on the basis of a qualifying diagnosis in billing data. We assessed women's adherence (full adherence, partial adherence and no screening) with two United States Preventive Services Task Force (USPSTF) cancer screening recommendations (mammography and Pap testing) throughout the course of the study period. Multinomial models were estimated to describe the association between VI and adherence to the two cancer screening recommendations. RESULTS: A total of 1308 women with VI and 2635 women without VI (mammography) and 1247 women with VI and 2483 women without VI (Pap testing) were included in the study. After adjusting for age, number of eligible enrollment years, insurance type (Medicare, Medicaid, or both), urban or rural residence and having a hysterectomy, women with VI were significantly less likely than those without VI to have full adherence to mammography recommendations (adjusted odds ratio, OR, 0.49, 95% confidence interval, CI, 0.40-0.60) and Pap testing recommendations (adjusted OR 0.32, 95% CI 0.27-0.39). CONCLUSION: We used a new approach to investigate adherence to USPSTF recommendations, accounting for both full and partial adherence. This approach identified disparities in mammography and Pap testing for women with VI. The findings of this study should facilitate the development of effective interventions to increase screening among women with VI.