Population-based Prevalence Estimates Research Articles

Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology

The NRXN1 locus is a hotspot for non-recurrent copy number variants and exon-disrupting NRXN1 deletions have been associated with increased risk of neurodevelopmental disorders in case-control studies. However, corresponding population-based estimates of prevalence and disease-associated risk are currently lacking. Also, most studies have not differentiated between deletions affecting exons of different NRXN1 splice variants nor considered intronic deletions. We used the iPSYCH2015 case-cohort sample to obtain unbiased estimates of the prevalence of NRXN1 deletions and their associated risk of autism, schizophrenia, depression, and ADHD. Most exon-disrupting deletions affected exons specific to the alpha isoform, and almost half of the non-exonic deletions represented a previously reported segregating founder deletion. Carriage of exon-disrupting NRXN1 deletions was associated with a threefold and twofold increased risk of autism and ADHD, respectively, whereas no significantly increased risk of depression or schizophrenia was observed. Our results highlight the importance of using population-based samples in genetic association studies.

Epidemiology of Inherited Retinal Diseases in Korea: A National Health Information Database Analysis (2011-2020)

Purpose: We evaluated the incidence and prevalence of inherited retinal diseases (IRDs) in Korea using a national database.Methods: This retrospective study used the National Health Information Database to enroll patients with IRDs (registration code V209) between January 2011 and December 2020. Incidence and prevalence of IRDs were analyzed and stratified by age, sex, geographic location, and socioeconomic status.Results: During the study period, 10,228 patients were diagnosed with IRD, yielding an annual incidence rate of 1.60–2.35 per 100,000 individuals. In 2020, the prevalence of IRD reached 27.1 cases per 100,000 individuals. Initial diagnoses were primarily concentrated in Seoul (44.4%), metropolitan areas (29.4%), and Gyeonggi province (12.1%). Notably, less than 50% of patients received their initial diagnosis in their home region, except for residents of Seoul (94.0%), metropolitan areas (76.8%), and Jeju Island (70.8%). The incidence of IRDs was higher among the top 25% income bracket, compared to other income levels.Conclusions: Our study provides the first nationwide, population-based estimates of IRD incidence and prevalence in Korea. Our findings reveal significant regional and socioeconomic disparities in IRD healthcare access, emphasizing the need for targeted interventions.

Epidemiology and Risk Factors of Dry Eye Disease: Considerations for Clinical Management.

Dry eye disease is a multifactorial condition characterised by tear film instability, hyperosmolarity and ocular surface inflammation. Understanding the epidemiology of dry eye disease and recognising both modifiable and non-modifiable risk factors can assist eye care practitioners in assessing, treating, and managing patients with the condition. This review considers current knowledge surrounding its incidence and prevalence, as well as associated demographic, systemic, ocular, and iatrogenic, and lifestyle-related modifiable risk factors. Population-based prevalence estimates vary according to the diagnostic criteria used to define dry eye disease, as well as severity and demographic characteristics of the population. Considering recent data and variable population demographics, conservative prevalence estimates suggest that 10-20% of the population over 40 years of age report moderate to severe symptoms and/or seek treatment for dry eye disease. Individuals with specific non-modifiable demographic risk factors may be at increased risk of developing dry eye disease. Advanced age, female sex and East Asian ethnicity have been identified as key non-modifiable demographic features predisposing individuals to dry eye disease. Systemic conditions that have been associated with an increased risk of dry eye disease include migraine, Sjögren syndrome, connective tissue disorders, mental health disorders, diabetes mellitus and androgen deficiency. Medications that may contribute to this risk include antidepressants, antihistamines, and hormone replacement therapy. Ocular and iatrogenic risk factors of dry eye disease include blepharitis, Demodex infestation, ocular surgery, blink completeness, contact lens wear, and topical ophthalmic medications. A range of modifiable lifestyle factors that can increase the risk of dry eye disease have also been identified, including low humidity environments, digital screen use, quality of sleep, diet, and eye cosmetic wear. Dry eye is a common disease affecting millions globally. Increasing knowledge regarding its associated risk factors can better prepare the eye care practitioner to successfully manage patients with this ocular surface disease.

INTEGRATE-ADHD: Comparison and Integration of Administrative and Epidemiological ADHD Diagnosis Data through Clinical Assessment - Presentation of the Project

As one of the most frequently diagnosed mental disorders in children and adolescents with sometimes serious individual, family and social consequences, attention deficit/hyperactivity disorder (ADHD) is highly relevant to society and health policy. In Germany, data from statutory health insurance companies has reported increasing ADHD diagnosis prevalence rates over years, while epidemiological data has shown constant and recently even decreasing prevalence rates. The clinical validity of diagnoses from either data sources is unknown. In the framework of the consortium project INTEGRATE-ADHD, 5461 parents of children aged 0 to 17 years with a confirmed administrative ADHD diagnosis insured with the third-largest German statutory health insurance provider (DAK-Gesundheit) in at least one quarter of 2020 were surveyed with the questionnaires from the epidemiological German Health Interview and Examination Survey (KiGGS study) and its in-depth module on child mental health (BELLA study) on their child's ADHD diagnosis and symptoms and on other topics, including comorbidity, utilisation of healthcare services, quality of care and satisfaction, psychosocial risk and protective factors and health-related quality of life. In addition, a subsample of 202 children and adolescents with a clinical diagnosis based on the AMWF S3 guideline on ADHD was analysed. An important aim of the project is to use data linkage on person-level to identify possible causes for the often divergent prevalence estimates from epidemiological and administrative data and to integrate and validate the data sources using a guideline-based clinical diagnosis, thereby contributing to a more accurate population-based prevalence estimate of ADHD in children and adolescents and clarifying actual or supposed contradictions between the data sources. The INTEGRATE-ADHD data linkage project combines administrative, epidemiological and clinical ADHD diagnosis data to create a "three-dimensional view" of the ADHD diagnosis. The results will be used to identify fields of action for healthcare policy and self-administration in the German healthcare system and to derive recommendations for the actors and stakeholders in the field of ADHD. The first results will be published in 2024.

Global epidemiology of heart failure.

Heart failure (HF) is a heterogeneous clinical syndrome marked by substantial morbidity and mortality. The natural history of HF is well established; however, epidemiological data are continually evolving owing to demographic shifts, advances in treatment and variations in access to health care. Although the incidence of HF has stabilized or declined in high-income countries over the past decade, its prevalence continues to increase, driven by an ageing population, an increase in risk factors, the effectiveness of novel therapies and improved survival. This rise in prevalence is increasingly noted among younger adults and is accompanied by a shift towards HF with preserved ejection fraction. However, disparities exist in our epidemiological understanding of HF burden and progression in low-income and middle-income countries owing to the lack of comprehensive data in these regions. Therefore, the current epidemiological landscape of HF highlights the need for periodic surveillance and resource allocation tailored to geographically vulnerable areas. In this Review, we highlight global trends in the burden of HF, focusing on the variations across the spectrum of left ventricular ejection fraction. We also discuss evolving population-based estimates of HF incidence and prevalence, the risk factors for and aetiologies of this disease, and outcomes in different geographical regions and populations.

Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants

Recurrent copy number variants (rCNVs) have been associated with increased risk of psychiatric disorders in case-control studies, but their population-level impact is unknown. To provide unbiased population-based estimates of prevalence and risk associated with psychiatric disorders for rCNVs and to compare risks across outcomes, rCNV dosage type (deletions or duplications), and locus features. This genetic association study is an analysis of data from the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) case-cohort sample of individuals born in Denmark in 1981-2008 and followed up until 2015, including (1) all individuals (n = 92 531) with a hospital discharge diagnosis of attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder, major depressive disorder (MDD), or schizophrenia spectrum disorder (SSD) and (2) a subcohort (n = 50 625) randomly drawn from the source population. Data were analyzed from January 2021 to August 2023. Carrier status of deletions and duplications at 27 autosomal rCNV loci was determined from neonatal blood samples genotyped on single-nucleotide variant microarrays. Population-based rCNV prevalence was estimated with a survey model using finite population correction to account for oversampling of cases. Hazard ratio (HR) estimates and 95% CIs for psychiatric disorders were derived using weighted Cox proportional hazard models. Risks were compared across outcomes, dosage type, and locus features using generalized estimating equation models. A total of 3547 rCNVs were identified in 64 735 individuals assigned male at birth (53.8%) and 55 512 individuals assigned female at birth (46.2%) whose age at the end of follow-up ranged from 7.0 to 34.7 years (mean, 21.8 years). Most observed increases in rCNV-associated risk for ADHD, ASD, or SSD were moderate, and risk estimates were highly correlated across these disorders. Notable exceptions included high ASD-associated risk observed for Prader-Willi/Angelman syndrome duplications (HR, 20.8; 95% CI, 7.9-55). No rCNV was associated with increased MDD risk. Also, rCNV-associated risk was positively correlated with locus size and gene constraint but not with dosage type. Comparison with published case-control and community-based studies revealed a higher prevalence of deletions and lower associated increase in risk for several rCNVs in iPSYCH2015. This study found that several rCNVs were more prevalent and conferred less risk of psychiatric disorders than estimated previously. Most case-control studies overestimate rCNV-associated risk of psychiatric disorders, likely because of selection bias. In an era where genetics is increasingly being clinically applied, these results highlight the importance of population-based risk estimates for genetics-based predictions.

The prevalence of chronic pain in children and adolescents: a systematic review update and meta-analysis.

Chronic pain, defined as persistent or recurring pain or pain lasting longer than 3 months, is a common childhood problem. The objective of this study was to conduct an updated systematic review and meta-analysis on the prevalence of chronic pain (ie, overall, headache, abdominal pain, back pain, musculoskeletal pain, multisite/general pain, and other) in children and adolescents. EMBASE, PubMed, CINAHL, and PsycINFO were searched for publications between January 1, 2009, and June 30, 2023. Studies reporting population-based estimates of chronic nondisease related pain prevalence in children or adolescents (age ≤ 19 years) were included. Two independent reviewers screened articles based on a priori protocol. One hundred nineteen studies with a total of 1,043,878 children (52.0% female, mean age 13.4 years [SD 2.4]) were included. Seventy different countries were represented, with the highest number of data points of prevalence estimates coming from Finland and Germany (n = 19 each, 4.3%). The overall prevalence of chronic pain in children and adolescents was 20.8%, with the highest prevalence for headache and musculoskeletal pain (25.7%). Overall, and for all types of pain except for back pain and musculoskeletal pain, there were significant differences in the prevalence between boys and girls, with girls having a higher prevalence of pain. There was high heterogeneity (I 2 99.9%). Overall risk of bias was low to moderate. In summary, approximately 1 in 5 children and adolescents experience chronic pain and prevalence varies by pain type; for most types, there is higher pain prevalence among girls than among boys. Findings echo and expand upon the systematic review conducted in 2011.

Preventive treatment patterns in the adult migraine population: an observational UK study over 7 years

BackgroundCalcitonin gene-related peptide monoclonal antibodies (CGRP mAbs) are recommended by the United Kingdom National Institute of Health and Care Excellence for the prevention of migraine as treatment beyond third line. We report migraine prevalence and preventive treatment patterns in the adult United Kingdom primary care population over a 7.5-year period, focusing on patients ceasing ≥ 3 oral preventive medication classes.MethodsStudy populations were retrieved from the Clinical Practice Research Datalink GOLD database (study period: 19 September 2012 to 1 January 2020; inclusion criteria: ≥12 months follow-up, current-in-dataset, adult on 1 January 2020). Patients who used ≥ 1 oral preventive medication with ≥ 3-year follow-up after first prescription were considered preventive treatment users; class cessation was defined as cessation without evidence of restart within 6 months from end-of-supply date.ResultsOn 1 January 2020, 3.0% of the total study population were diagnosed with migraine (n = 81,190/2,664,306); of these, 42.4% were preventive treatment users (n = 34,448/81,190). The most frequently used oral migraine preventive medication classes were beta-blockers (n = 14,713), tricyclic antidepressants (n = 14,415) and antiepileptics (n = 6497). Among preventive treatment users, 7.7% (n = 2653/34,448) ceased ≥ 3 oral preventive medication classes; of these, 21.7% (n = 576/2653) had been referred to a neurologist.ConclusionsCompared to existing population-based estimates of migraine prevalence, our data further corroborates that a considerable proportion of patients with migraine do not seek treatment. Among those who sought primary care within a 7.5-year period, almost half received empirical oral preventive treatment. Importantly, nearly 1 of 10 preventive treatment users ceased ≥ 3 oral preventive medication classes, highlighting a need for additional therapeutic options. These patients may benefit from CGRP antagonists and/or injectable onabotulinumtoxinA; however, only a minority was referred to specialist care, where these options would be more available.Trial RegistrationNot applicable.

The societal economic impact of vision impairment in adults 40 years and above: findings from the National Eye Survey of Trinidad and Tobago.

Understanding and mitigating the societal economic impact of vision impairment (VI) is important for achieving the Sustainable Development Goals. To estimate the prevalent societal economic impact of presenting VI in Trinidad and Tobago using bottom-up cost and utilisation data from the 2014 National Eye Survey of Trinidad and Tobago. We took a societal perspective to combine comprehensive, individual-level cost and utilisation data, with population-based prevalence estimates for VI, and additional data from a contemporaneous national eyecare system survey. We included direct (medical and non-medical) and indirect (productivity loss) costs, and intangible losses in total cost estimates, presented in 2014 Trinidad & Tobago (TT) dollars and UK sterling equivalent. We considered but excluded transfer payments and dead weight losses. Sensitivity analyses explored impact on total cost of parameter uncertainty and assumptions. Individual utilisation and cost data were available for 65.5% (n = 2792/4263) and 59.0% (n = 2516/4263) eligible participants aged ≥40 years, respectively. Participant mean age was 58.4(SD 11.8, range 40-103) years, 56.3% were female. We estimated total societal cost of VI in 2014 at UK£365,650,241 (TT$3,842,324,655), equivalent to £675 per capita (population ≥40 years). Loss of wellbeing accounted for 73.3%. Excluding this, the economic cost was UK£97,547,222 (TT$1,025,045,399), of which indirect costs accounted for 70.5%, followed by direct medical costs (17.9%), and direct non-medical costs (11.6%). This study provides a comprehensive estimate of the economic impact of vision loss in a Caribbean country, and highlights the extent to which affected individuals and their families bear the societal economic cost of vision impairment.

Abstract A118: Prevalence and risk factors of breast cancer diagnoses among Native Hawaiian & Pacific Islander women

Abstract Purpose: Breast cancer is the most common type of cancer for women nationally with evidence indicating clear racial and ethnic disparities in risk and occurrence. Yet our understanding of the distinct, population-level impacts among Native Hawaiian and Pacific Islander (NHPI) women is limited. NHPIs show elevated levels of multiple comorbidities and emerging evidence from local community studies suggests NHPIs suffer disproportionately from higher incidence, advanced stage of diagnoses, and lower survivability rates from breast cancer. The purpose of this study was to investigate the prevalence, sociodemographic characteristics, and risk factors associated with NHPI women diagnosed with breast cancer. Methods/Data: We utilized the 2014 Native Hawaiian and Pacific Islander National Health Interview Survey (NHPI NHIS), a nationally representative survey conducted by the CDC-NCHS to collect high-quality data on health conditions, health risk behaviors, and healthcare utilization among NHPI populations. Among 2,588 participants, 4% reported having ever been diagnosed with cancer, and among those breast cancer was the most common. Descriptive and regression analysis of socio-demographic characteristics, risk behaviors, and comorbidities to evaluate disparities in the incidence of breast cancer among NHPI women compared to other racial or ethnic populations. Findings/Conclusion: Population-based estimates of breast cancer prevalence among a diverse NHPI population show breast cancer inequities persist. Ongoing research is needed to better understand the underlying conditions and risks, prevention, and treatment of breast cancer in the population. Citation Format: Sarah A. McNally, Daniel J. Salas-Escabillas, Nicholas A. Sowizral, Sela V. Panapasa. Prevalence and risk factors of breast cancer diagnoses among Native Hawaiian & Pacific Islander women [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr A118.

Population-based estimates of COVID-19 period prevalence and cumulative monthly incidence in New York City: A comparison of estimates from three surveys, July–August 2020

Background Diagnosis-based surveillance of COVID-19 underestimates COVID-19 burden. Questions about COVID-19-consistent symptoms were added to three population-based surveys to obtain representative estimates of COVID-19 period prevalence and monthly cumulative incidence. Objective To evaluate if estimates of COVID-19 period prevalence and cumulative monthly incidence differed when collected from surveys with different sampling frames and modes of administration. Methods Data were collected from adult New York City (NYC) residents via the Community Health Survey (CHS) (sampling frame: random digit dial with dual landline and cellphone frame; mode: phone) and the Citywide Mobility Survey (CMS) (sampling frame: probabilistically selected panel; mode: online) in July 2020 and via CHS and Healthy NYC (sampling frame: probabilistically selected panel; mode: online and phone) in August 2020. Persons with COVID-19-like illness (CLI) were identified based on reported symptoms in the past 30 days. To obtain COVID-19 estimates, CLI estimates were adjusted by the proportion of laboratory-confirmed SARS-CoV-2 infections among citywide emergency department CLI visits in which patients received SARS-CoV-2 testing. We used t-tests to compare estimated CLI period prevalence in July 2020 between CHS and CMS and CLI period prevalence and cumulative monthly incidence in August 2020 between CHS and Healthy NYC. Results CLI period prevalence was similar between CHS and CMS during July (12.2% vs. 9.9%, respectively, p=0.511); COVID-19 period prevalence was 1.7% and 1.3%, respectively. In contrast, CLI period prevalence was higher per Healthy NYC during August 2020 than CHS (18.1% vs. 11.3%, p=0.014); COVID-19 period prevalence was 0.7% and 0.4%, respectively. CLI cumulative monthly incidence in August was similar (5.7% and 4.0%, respectively; p=0.246) in both surveys. Conclusions Because estimates of CLI were not consistently different by sampling frame or mode of administration, additional research to understand the cause of differences between CHS and Healthy NYC can support use of symptom-based surveillance to monitor COVID-19 trends.

Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.

Introduction: It is estimated that around 5% of breast cancer cases carry pathogenic variants in established breast cancer susceptibility genes. However, the underlying prevalence and gene-specific population risk estimates in Cyprus are currently unknown. Methods: We performed sequencing on a population-based case-control study of 990 breast cancer cases and 1094 controls from Cyprus using the BRIDGES sequencing panel. Analyses were conducted separately for protein-truncating and rare missense variants. Results: Protein-truncating variants in established breast cancer susceptibility genes were detected in 3.54% of cases and 0.37% of controls. Protein-truncating variants in BRCA2 and ATM were associated with a high risk of breast cancer, whereas PTVs in BRCA1 and PALB2 were associated with a high risk of estrogen receptor (ER)-negative disease. Among participants with a family history of breast cancer, PTVs in ATM, BRCA2, BRCA1, PALB2 and RAD50 were associated with an increased risk of breast cancer. Furthermore, an additional 19.70% of cases and 17.18% of controls had at least one rare missense variant in established breast cancer susceptibility genes. For BRCA1 and PALB2, rare missense variants were associated with an increased risk of overall and triple-negative breast cancer, respectively. Rare missense variants in BRCA1, ATM, CHEK2 and PALB2 domains, were associated with increased risk of disease subtypes. Conclusion: This study provides population-based prevalence and gene-specific risk estimates for protein-truncating and rare missense variants. These results may have important clinical implications for women who undergo genetic testing and be pivotal for a substantial proportion of breast cancer patients in Cyprus.

Comparison of programmatic data from antenatal clinics with population-based HIV prevalence estimates in the era of universal test and treat in western Kenya.

To compare HIV prevalence estimates from routine programme data in antenatal care (ANC) clinics in western Kenya with HIV prevalence estimates in a general population sample in the era of universal test and treat (UTT). The study was conducted in the area covered by the Siaya Health Demographic Surveillance System (Siaya HDSS) in western Kenya and used data from ANC clinics and the general population. ANC data (n = 1,724) were collected in 2018 from 13 clinics located within the HDSS. The general population was a random sample of women of reproductive age (15-49) who reside in the Siaya HDSS and participated in an HIV sero-prevalence survey in 2018 (n = 2,019). Total and age-specific HIV prevalence estimates were produced from both datasets and demographic decomposition methods were used to quantify the contribution of the differences in age distributions and age-specific HIV prevalence to the total HIV prevalence estimates. Total HIV prevalence was 18.0% (95% CI 16.3-19.9%) in the ANC population compared with 18.4% (95% CI 16.8-20.2%) in the general population sample. At most ages, HIV prevalence was higher in the ANC population than in the general population. The age distribution of the ANC population was younger than that of the general population, and because HIV prevalence increases with age, this reduced the total HIV prevalence among ANC attendees relative to prevalence standardised to the general population age distribution. In the era of UTT, total HIV prevalence among ANC attendees and the general population were comparable, but age-specific HIV prevalence was higher in the ANC population in most age groups. The expansion of treatment may have led to changes in both the fertility of women living with HIV and their use of ANC services, and our results lend support to the assertion that the relationship between ANC and general population HIV prevalence estimates are highly dynamic.

Prevalence of childhood cough in epidemiological studies depends on the question used: findings from two population-based studies

Epidemiological studies use different questions to assess recurrent cough in children. In two independent population-based studies, we assessed how prevalence estimates of cough vary depending on the questions parents are asked about their child's cough and how answers to the different questions overlap. We analysed cross-sectional data from two population-based studies on respiratory health:LuftiBus in the School(LUIS), conducted in 2013-2016 among 6- to 17-year-school children in the Canton of Zurich, Switzerland, and the 1998Leicester Respiratory Cohort(LRC) study, UK where we used data from 6- to 8-year-old children from the 2003 follow-up survey. Both studies used parental questionnaires that included the same three questions on the child's cough, namely cough without a cold, dry cough at night and coughing more than others. We assessed how the prevalence of cough varied depending on the question and how answers to the different questions on cough overlapped. We also assessed how results were influenced by age, sex, presence of wheeze and parental education. We included 3457 children aged 6-17 years from LUIS and 2100 children aged 6-8 years from LRC. All respiratory outcomes - cough, wheeze and physician-diagnosed asthma - were reported twice as often in the LRC as in LUIS. We found large differences in the prevalence of parent-reported cough between the three cough questions. In LUIS, 880 (25%) parents reported cough without a cold, 394 (11%) dry night cough, and 159 (5%) reported that their child coughed more than other children. In the LRC, these numbers were 1003 (48%), 527 (25%) and 227 (11%). There was only partial overlap of answers, with 89 (3%) answering yes to all questions in LUIS and 168 (8%) in LRC. Prevalence of all types of cough and overlap between the cough questions was higher in children with current wheeze. In both population-based studies prevalence estimates of cough depended strongly on the question used to assess cough with only partial overlap of responses to different questions. Epidemiological studies on cough can only be compared if they used exactly the same questions for cough.

Prospective audit of the phenotype, causes and correlates of trachomatous and non- trachomatous trichiasis in a peri-elimination setting.

To explore the burden, clinical features and associations of trichiasis due to trachomatous and non-trachomatous aetiologies. Consenting patients presenting with trichiasis of either eyelid (of one or both eyes) attending the outpatient department, cornea and oculoplasty clinics of a tertiary eye care hospital in New Delhi between August 2018 to March 2020 were included. A comprehensive examination including visual acuity and anterior segment evaluation and photography was performed. Grade of trichiasis, laterality, presence and grade of entropion, and information on corneal opacity, conjunctival scarring, Herbert's pits, and pannus, if present, were recorded in the case record form. Overall, 302 patients (454 eyes) with trichiasis were recruited. The most common attributed cause of upper eyelid trichiasis (276 patients, 405 eyes) was trachoma (26% of patients), followed by Stevens-Johnson syndrome (23%), blepharokeratoconjunctivitis (17%) and old age (10%). A total of 296/405 eyes (73%) had some form of corneal involvement. Trachoma was not identified as the cause of trichiasis in any eye with lower eyelid-only disease. Only about a quarter of upper eyelid trichiasis in this peri-elimination setting was attributed to trachoma. A distinction between trachomatous and non-trachomatous trichiasis is imperative to meaningfully determine whether elimination of trachoma as a public health problem has occurred. These data may have implications for population-based estimates of TT prevalence in India and other peri-elimination settings.

Population-based prevalence and incidence estimates of mixed connective tissue disease from the Manhattan Lupus Surveillance Program.

Epidemiological data for MCTD are limited. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD. MLSP cases were identified from rheumatologists, hospitals and population databases using a variety of International Classification of Diseases, Ninth Revision codes. MCTD was defined as one of the following: fulfilment of our modified Alarcon-Segovia and Kahn criteria, which required a positive RNP antibody and the presence of synovitis, myositis and RP; a diagnosis of MCTD and no other diagnosis of another CTD; and a diagnosis of MCTD regardless of another CTD diagnosis. Overall, 258 (7.7%) cases met a definition of MCTD. Using our modified Alarcon-Segovia and Kahn criteria for MCTD, the age-adjusted prevalence was 1.28 (95% CI 0.72, 2.09) per 100 000. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10, 4.11) per 100 000 and 0.39 (95% CI 0.22, 0.64) per 100 000, respectively. The age-adjusted prevalence and incidence were highest using a diagnosis of MCTD regardless of other CTD diagnoses and were 16.22 (95% CI 14.00, 18.43) per 100 000 and 1.90 (95% CI 1.49, 2.39) per 100 000, respectively. The MLSP provided estimates for the prevalence and incidence of MCTD in a diverse population. The variation in estimates using different case definitions is reflective of the challenge of defining MCTD in epidemiologic studies.

Treatment Patterns of Atopic Dermatitis Medication in 0-10-Year-Olds: A Nationwide Prescription-Based Study.

IntroductionThe literature on treatment patterns for paediatric atopic dermatitis (AD) is scarce and is rarely based on real-world data. Using national registers, we sought to establish up-to-date, population-based prevalence estimates, predictors of risk and disease burden and a comprehensive overview of treatment patterns and course for paediatric patients with AD.MethodsDispensed prescriptions for the entire Norwegian child population aged 0–10 years from 2014 to 2020 were analysed.ResultsThere were 176,458 paediatric patients with AD. Of these, 99.2% received topical corticosteroids, 5.1% received topical calcineurin inhibitors, 37.1% received potent topical corticosteroids and 2.1% received systemic corticosteroids. Of the 59,335 live births in Norway (2014), 14,385 [24.8%; 95% confidence interval (CI) 24.5–25.1] paediatric patients were treated for AD before the age of 6 years, and of these, only 934 (6.5%; 95% CI 6.1–6.9) received medication annually for 5 years or more. Compared with girls, 17.9% (95% CI 6.5–27.9) more boys were treated for at least 5 years, receiving 6.4% (95% CI 1.2–11.3) more potent topical corticosteroids and 12.4% (95% CI 6.5–18.0) more were treated for skin infections. Compared with patients with late-onset treatment, 18.9% (95% CI 7.5–29.0) more paediatric patients with early-onset treatment were still receiving treatment at 5 years of age, 15.7% (95% CI 7.1–23.4) more paediatric patients received potent topical corticosteroids and 44.4% (95% CI 36.5–51.2) more paediatric patients were treated for skin infections.ConclusionMost paediatric patients were treated for a mild disease for a limited period. Although the prevalence of AD is higher at a younger age, these paediatric patients were the least likely to receive potent topical corticosteroids. Male sex and early-onset AD are associated with and are potential predictors of long-term treatment and treatment of potent topical corticosteroids, antihistamines and skin infections, which may have clinical utility for personalised prognosis, healthcare planning and future AD prevention trials.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13555-022-00754-6.

Changes in Cancer Screening in the US During the COVID-19 Pandemic

Health care was disrupted in the US during the first quarter of 2020 with the emergence of the COVID-19 pandemic. Early reports in selected samples suggested that cancer screening services decreased greatly, but population-based estimates of cancer screening prevalence during 2020 have not yet been reported. To examine changes in breast cancer (BC), cervical cancer (CC), and colorectal cancer (CRC) screening prevalence with contemporary national, population-based Behavioral Risk Factor Surveillance System (BRFSS) data. This survey study included respondents from the 2014, 2016, 2018, and 2020 BRFSS surveys who were eligible for BC (women aged 50-74 years), CC (women aged 25-64 years), and CRC (women and men aged 50-75 years) screening. Data analysis was performed from September 2021 to February 2022. Calendar year. Self-reported receipt of a recent (defined as in the past year) BC, CC, and CRC screening test. Adjusted prevalence ratios (aPRs) comparing 2020 vs 2018 prevalence and 95% CIs were computed. In total, 479 248 individuals were included in the analyses of BC screening, 301 453 individuals were included in CC screening, and 854 210 individuals were included in CRC screening, In 2020, among respondents aged 50 to 75 years, 14 815 (11.4%) were Black, 12 081 (12.6%) were Hispanic, 156 198 (67.3%) were White, and 79 234 (29.9%) graduated from college (all percentages are weighted). After 4 years (2014-2018) of nearly steady prevalence, past-year BC screening decreased by 6% between 2018 and 2020 (from 61.6% in 2018 to 57.8% in 2020; aPR, 0.94; 95% CI, 0.92-0.96), and CC screening decreased by 11% (from 58.3% in 2018 to 51.9% in 2020; aPR, 0.89; 95% CI, 0.87-0.91). The magnitude of these decreases was greater in people with lower educational attainment and Hispanic persons. CRC screening prevalence remained steady; past-year stool testing increased by 7% (aPR, 1.07; 95% CI, 1.02-1.12), offsetting a 16% decrease in colonoscopy (aPR, 0.84; 95% CI, 0.82-0.88) between 2018 and 2020. In this survey study, stool testing increased and counterbalanced a decrease in colonoscopy during 2020, and BC and CC screening modestly decreased. How these findings might be associated with outcomes is not yet known, but they will be important to monitor, especially in populations with lower socioeconomic status, who experienced greater screening decreases during the COVID-19 pandemic.

0414 Estimated Prevalence of Idiopathic Hypersomnia in the Wisconsin Sleep Cohort

Abstract Introduction Idiopathic hypersomnia (IH) is a neurologic condition characterized by chronic excessive daytime sleepiness despite normal sleep duration in which sleepiness is unexplained by other sleep disorders, behaviors, or other identifiable causes. Population-based prevalence estimates of IH are unavailable, though a recent analysis of a US insured population found ~1/10,000 persons were diagnosed with IH. Here we estimate IH prevalence in the Wisconsin Sleep Cohort (WSC). Methods The WSC is an epidemiology cohort recruited from a working population. To characterize IH we used measures of subjective (Epworth Sleepiness Scale, ESS) and objective sleepiness (Multiple Sleep Latency Tests, MSLT), polysomnography, sleep diaries, and extensive questionnaires. IH was defined as the union of: ESS>10; MSLT<8 minutes; <2 sleep-onset REM periods; apnea-hypopnea index (AHI)<15 (we also estimated prevalence using an AHI<5 cutpoint); >=6 hours habitual daily sleep; and non-shift worker. Other explanations for sleepiness were also investigated. Results Among 792 WSC participants (48% female, mean age=59 years [range=40-78 years]), we estimate an IH prevalence=3.8%, 95% CI=2.6-5.4%). We arrived at this estimate thusly: of n=792 participants, n=275 (35%) had ESS>10; of these, n=89 had MSLT<8 minutes; of these, n=71 had <2 sleep onset REM periods; of these, n=35 had an AHI<15; of these, n=33 slept >=6 hours/night; and, of these, n=30 were non-shift workers. Comparing the 30 so-defined “IH participants” to non-IH participants, respectively: 57% (IH) vs. 48% (non-IH) (NS) were female, mean age was 57 vs. 59 years (NS), mean AHI was 4.6 vs. 13.3 (by definition of IH, mean AHI was lower for IH participants), mean sleep duration was 7.6 vs. 7.7 hours (NS), and sedative use prevalence was 3% vs. 10% (NS). No IH participants reported a history of heart failure, heart attack or stroke. Prevalence of IH using an AHI cutpoint of 5 (i.e., IH only classified in participants with AHI<5), we find an IH prevalence of 2.4% (95% CI=1.5-3.7%). Conclusion Idiopathic hypersomnia may be more prevalent than previously assumed: approximately 2 to 4% of Wisconsin Sleep Cohort participants had evidence of hypersomnia that could not be explained by other sleep disorders, insufficient sleep, shift work or other examined factors. Support (If Any) This work was supported by the National Heart, Lung, and Blood Institute (NHLBI, R01HL62252), National Institute on Aging (NIA, R01AG058680) and the National Center for Research Resources (NCRR, 1UL1RR025011) at the US National Institutes of Health, as well as a grant from Jazz Pharmaceuticals.

Long COVID Citizen Scientists: Developing a Needs-Based Research Agenda by Persons Affected by Long COVID

BackgroundLong-term health consequences following acute SARS-CoV-2 infection, referred to as post-COVID-19 condition or Long COVID, are increasing, with population-based prevalence estimates for adults at around 20%. Persons affected by Long COVID report various health problems, yet evidence to guide clinical decision making remains scarce.ObjectiveThe present study aimed to identify Long COVID research priorities using a citizen science approach and solely considering the needs of those affected.MethodsThis citizen science study followed an iterative process of patient needs identification, evaluation and prioritisation. A Long COVID Citizen Science Board (21 persons with Long COVID, and seven with myalgic encephalomyelitis/chronic fatigue syndrome) and a Long COVID Working Group (25 persons with Long COVID, four patients with myalgic encephalomyelitis/chronic fatigue syndrome and one relative) were formed. The study included four activities: three remote meetings and one online survey. First, Board members identified the needs and research questions. Second, Working Group members and persons affected by Long COVID (241 respondents, 85.5% with Long COVID, 14.5% with myalgic encephalomyelitis/chronic fatigue syndrome and 7.1% relatives) evaluated the research questions on a 1–5 Likert scale using an online survey. Then the Board gave feedback on this evaluation. Finally, Board members set the priorities for research through voting and discussion.ResultsSixty-eight research questions were generated by the Board and categorised into four research domains (medicine, healthcare services, socioeconomics and burden of disease) and 14 subcategories. Their average importance ratings were moderate to high and varied from 3.41 (standard deviation = 1.16) for sex-specific diagnostics to 4.86 (standard deviation = 0.41) for medical questions on treatment. Five topics were prioritised: “treatment, rehabilitation and chronic care management”, “availability of interfaces for treatment continuity”, “availability of healthcare structures”, “awareness and knowledge among professionals” and “prevalence of Long COVID in children and adolescents”.ConclusionsTo our knowledge, this is the first study developing a citizen-driven, explicitly patient-centred research agenda with persons affected by Long COVID, setting it apart from existing multi-stakeholder efforts. The identified priorities could guide future research and funding allocation. Our methodology establishes a framework for citizen-driven research agendas, suitable for transfer to other diseases.Supplementary InformationThe online version contains supplementary material available at 10.1007/s40271-022-00579-7.