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.
We examined the associations between 2 measures of sexual orientation and 4 suicide risk outcomes (SROs) from pooled local Youth Risk Behavior Surveys.
We aggregated data from 5 local Youth Risk ...Behavior Surveys from 2001 to 2009. We defined sexual minority youths (SMYs) by sexual identity (lesbian, gay, bisexual) and sex of sexual contacts (same- or both-sex contacts). Survey logistic regression analyses controlled for a wide range of suicide risk factors and sample design effects.
Compared with non-SMYs, all SMYs had increased odds of suicide ideation; bisexual youths, gay males, and both-sex contact females had greater odds of suicide planning; all SMYs, except same-sex contact males, had increased odds of suicide attempts; and lesbians, bisexuals, and both-sex contact youths had increased odds of medically serious attempts. Unsure males had increased odds of suicide ideation compared with heterosexual males. Not having sexual contact was protective of most SROs among females and of medically serious attempts among males.
Regardless of sexual orientation measure used, most SMY subgroups had increased odds of all SROs. However, many factors are associated with SROs.
We examined the associations of overall and age-specific suicide rates with business cycles from 1928 to 2007 in the United States.
We conducted a graphical analysis of changes in suicide rates ...during business cycles, used nonparametric analyses to test associations between business cycles and suicide rates, and calculated correlations between the national unemployment rate and suicide rates.
Graphical analyses showed that the overall suicide rate generally rose during recessions and fell during expansions. Age-specific suicide rates responded differently to recessions and expansions. Nonparametric tests indicated that the overall suicide rate and the suicide rates of the groups aged 25 to 34 years, 35 to 44 years, 45 to 54 years, and 55 to 64 years rose during contractions and fell during expansions. Suicide rates of the groups aged 15 to 24 years, 65 to 74 years, and 75 years and older did not exhibit this behavior. Correlation results were concordant with all nonparametric results except for the group aged 65 to 74 years.
Business cycles may affect suicide rates, although different age groups responded differently. Our findings suggest that public health responses are a necessary component of suicide prevention during recessions.
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.
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Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Chronic kidney disease affects 25% to 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 in patients with spina bifida based on the hypothesis that the treating clinic and spina bifida type would be associated with kidney function surveillance.
A retrospective cohort study was conducted of U.S. patients in the National Spina Bifida Patient Registry from 2013 to 2018. Followup was anchored at the 2013 visit. Participants with either an outcome event within 2 years of followup or more than 2 years of followup without an outcome event were included. Primary outcome was kidney function surveillance, defined as at least 1 renal ultrasound and serum creatinine within 2 years of followup. 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.
Of 8,351 patients 5,445 were included with a median followup of 3.0 years. Across 23 treating clinics kidney function surveillance rates averaged 62% (range 6% to 100%). In multivariable models kidney function surveillance was associated with treating clinic, younger patient age, functional lesion level, nonambulatory status and prior bladder augmentation. Treating clinic remained a significant predictor of kidney function surveillance in all sensitivity analyses.
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.
•A sample of children with FXS were matched with children with autism spectrum disorder (ASD) only, or intellectual disabilities (ID) only, or ASD and ID.•Higher percentage of caregivers of FXS ...reported negative financial and employment impacts than caregivers of ASD or ID only.•Caregivers of FXS reported similar financial and employment impacts as caregivers of both ASD and ID.•Co-occurring anxiety or seizures, limits in overall ability, and more irritability were associated with negative caregiver impacts.
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.
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.
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.
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.
Objectives To evaluate growth patterns of ambulatory males with Duchenne muscular dystrophy (DMD) treated with corticosteroids compared with ambulatory, steroid-naïve 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-naïve 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.
Thyroid hormone treatment in children with congenital hypothyroidism can prevent intellectual disability. Guidelines recommend that children diagnosed with congenital hypothyroidism through newborn ...screening remain on treatment to at least 3 years of age, after which a trial off therapy can determine which children have transient hypothyroidism. The purpose of this study was to describe the rate at which children with congenital hypothyroidism in the United States discontinue thyroid hormone treatment in early childhood.
Retrospective analysis of the 2002-2006 MarketScan(R) Commercial Claims and Encounters research databases and the 2001-2005 MarketScan Multi-State Medicaid databases. Children were classified as having congenital hypothyroidism based on billing codes and having filled a prescription for thyroid hormone treatment. Kaplan-Meier curve analysis was used to determine discontinuation rates.
There were a total of 412 Medicaid-enrolled children and 292 privately-insured children with presumed congenital hypothyroidism included in this study. The overall birth prevalence of congenital hypothyroidism across both datasets was about 1 per 2,300. By 36 months, the percentage who had discontinued thyroid replacement treatment was 38% (95% Confidence Interval: 32%-44%). Medicaid-enrolled children had a more rapid decline in the first 24 months of treatment compared to those with private insurance (P = 0.02).
More than one-third of children treated for congenital hypothyroidism discontinued treatment within 36 months, which is inconsistent with current guidelines. It is not known how many of these children required continued treatment or experience adverse effects from discontinuation. These findings emphasize the critical need for follow-up systems to monitor the outcome of newborn screening.
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