Prevalence Of SCD Research Articles

Screening for pulmonary hypertension in pregnant women with sickle cell disease in sub-Saharan Africa

BackgroundSickle cell disease (SCD) has evolved from a condition predominantly fatal in childhood to a chronic illness impacting many adults, including women of reproductive age. For females with SCD, pregnancy represents one of the greatest health threats, exacerbating existing health challenges and introducing new risks. Despite advancements in healthcare, routine screening for existing complications like pulmonary hypertension (PH) remains inconsistent, particularly in low- and middle-income countries (LMICs), where the prevalence of SCD is highest. ObjectiveThis study aimed to assess the feasibility of screening for PH in pregnant women with SCD in LMICs, with the goal of enhancing maternal health outcomes in this vulnerable population. Study DesignA prospective multi-center feasibility study was conducted from September 2022 to February 2023 at teaching hospitals in Ghana and Nigeria. The study included pregnant women with SCD between 28 and 34 weeks of gestation. Screening for PH utilized a tricuspid regurgitation velocity (TRV) criterion (>2.5 m/s), with adherence to American Society of Echocardiography guidelines. Statistical analysis included descriptive statistics and proportions. ResultsAmong 3091 pregnant women attending antenatal care, 88 had SCD (2.8%), and 55 were eligible for the study. We recruited 44 participants (mean age 28.9 years, SD 4.8), with 48% (21/44) SS genotype and 52% (23/44) SC genotype. Most participants (95.3%) had normal TRV (<2.5 m/s), with only one showing elevated TRV, successfully referred. Protocol adherence was 100%. Antenatal outcomes showed 95% echo uptake and 95.7% retention to term whilst postnatal echo follow-up was 43.5%. Notably, 27.1% (10/37) of deliveries required neonatal intensive care unit admission, and 18.2% were preterm. The sole participant with PH required intensive care unit care and experienced a preterm delivery with neonatal death on day 5. ConclusionScreening and referral for PH in pregnant women with SCD in LMICs are feasible but face challenges in early diagnosis, healthcare personnel availability, and postnatal follow-up. Strategic planning is crucial to address these challenges and improve outcomes in this high-risk population

Genetic Variants Associated with the Risk of Stroke in Sickle Cell Anemia: Systematic Review and Meta-Analysis

Sickle cell anemia (SCA) is the most common cause of stroke in children. As it is a rare disease, studies investigating the association with complications like stroke in SCD have small sample sizes. Here, we performed a systematic review and meta-analysis of the studies exploring an association of genetic variants with stroke to get a better indication of their association with stroke. PubMed and Google Scholar were searched to identify studies that had performed an association analysis of genetic variants for the risk of stroke in SCA patients. After screening of eligible studies, summary statistics of association analysis with stroke and other general information were extracted. Meta-analysis was performed using the fixed effect method on the tool METAL and forest plots were plotted using the R program. The random effect model was performed as a sensitivity analysis for loci where significant heterogeneity was observed. 407 studies were identified using the search term and after screening 37 studies that cumulatively analyzed 11,373 SCA patients were included. These 37 studies included a total of 2,222 SCA patients with stroke, predominantly included individuals of African ancestry (N = 16). Three of these studies performed whole exome sequencing while 35 performed single nucleotide-based genotyping. Though the studies reported association with 132 loci, meta-analyses could be performed only for 12 loci that had data from two or more studies. After meta-analysis we observed that four loci were significantly associated with risk for stroke: -α3.7 kb Alpha-thalassemia deletion (P = 0.00000027), rs489347-TEK (P = 0.00081), rs2238432-ADCY9 (P = 0.00085), rs11853426-ANXA2 (P = 0.0034), and rs1800629-TNF (P = 0.0003396). Ethnic representation of regions with a high prevalence of SCD like the Mediterranean basin and India needs to be improved for genetic studies on associated complications like stroke. Larger genome-wide collaborative studies on SCD and associated complications including stroke need to be performed.

Protocol for a comparative cross-sectional study on characterisation of auditory impairment in sickle cell disease and sickle cell trait and its impact on health-related quality of life in Nigeria

IntroductionSickle cell disease (SCD) and sickle cell traits (SCT) are genetically inherited red blood cell disorders common among people of African descent. Nigeria has a high prevalence of SCD, with...

Urban‐rural differences in the prevalence of Subjective Cognitive Decline in India: A comparative study

AbstractBackgroundSubjective Cognitive Decline (SCD), defined as a self‐experienced persistent cognitive decline with a normal performance in objective neuropsychological assessments is one of the first clinical manifestations of dementia. SCD has a strong association with depression, and more research is needed to understand the relationship between the two. When they co‐occur the risk of developing dementia increases. Despite the increased focus on the preclinical stages of dementia such as SCD there is limited research on its prevalence specifically in India. The present study aims to bridge this research gap by estimating the prevalence of SCD in India and assessing urban‐rural differences in its prevalence as well as sociodemographic factors.MethodThe study used data from two ongoing community‐based prospective cohort studies, namely the Tata Longitudinal Study of Ageing (TLSA) and Srinivaspura Aging, Neuro Senescence and COGnition (SANSCOG) in urban Bangalore and Srinivaspura respectively (Sundarakumar et al., 2020). Baseline data collected from 4429 participants aged 45 years and older were included in the analysis. The study used Clinical Dementia Rating Scale (CDR) scores and participants' responses to the questions pertaining to subjective cognitive impairment in Cognitive Function Instrument (CFI) and Geriatric Depression Scale (GDS) to estimate the prevalence of SCD.ResultOf 4429 participants recruited between 2015 and 2022, a total of 1010 (22.8%) participants [median (IQR) age, 60 (15)] were classified as having SCD. As shown in Tabe1, the prevalence was higher in the rural cohort than in the urban cohort (25.1% vs 14.0%, p&lt;0.001). The rural cohort was also found to be comparatively younger (57 (15) vs 63 (14)), and have fewer years of education (4 (9) vs 15(2)). Depression was found to have significant association with SCD in both the cohorts, with more depressive symptoms observed in the rural cohort. As shown in Table 2, the prevalence of SCD was higher in women than men in the urban cohort.ConclusionThe study’s findings indicate that despite being comparatively younger, the rural cohort had a higher prevalence of SCD, potentially due to the protective effect of higher years of education in the urban cohort.

Sudden Cardiac Death in Patients Under 49 Years Including Adolescents: A single-centre study from Oman.

This study aimed to identify the incidence of sudden cardiac death (SCD0 in adult patients under the age of 49 years, including adolescents with an out-of-hospital cardiac arrest that presented to the emergency department of a tertiary care hospital. This retrospective cross-sectional study was conducted at the Royal Hospital, Muscat, Oman, between January 2015 and December 2019. All patients with out-of-hospital cardiac arrest were enrolled. The incidence of SCD was evaluated. Information about the patient's demographic data, the site of cardiac arrest, the mode of arrival, the duration of pre-arrest symptoms and if cardiopulmonary resuscitation was performed was gathered. Survival data at 3-year follow-up was obtained. A total of 117 out of 769 (15%) patients met the criteria for SCD. Male gender was predominant, with a median age of 33 years. In about 79.5% of the patients, cardiac arrest was witnessed. Only 43 patients (36.8%) received cardiopulmonary resuscitation at the arrest site; 21 patients (17.9%) had a shockable rhythm and 96 patients (82.1%) had a non-shockable rhythm. Spontaneous circulation was returned in 15 patients (12.8%). Nine patients (7.7%) were discharged from the hospital and 8 (6.8%) survived at least 36 months. The study findings indicate the prevalence of SCD among patients who experienced a cardiac arrest outside the hospital. Unfortunately, only a small number of patients were able to survive in the long term. By implementing preemptive screening for individuals and their families, it may be possible to prevent SCD and improve outcomes for those affected.

Trainees' Perspectives on Components of Sickle Cell Specific Education

Background Sickle cell disease (SCD) is at the intersection of social, racial, and healthcare equity in the US. It is a socially and medically complex disease associated with increased morbidity and mortality when compared to age, race, and sex matched persons without SCD. Despite a historically high prevalence, it has not been a priority in healthcare, which contributes to healthcare inequities in this population. Patients and clinicians consistently identify lack of clinician knowledge about SCD as a barrier to quality care. Providers describe discomfort managing patients and have a poor understanding of its complications. The number of physicians trained and available to treat adults with SCD is insufficient to meet population needs. With most hematology/oncology trained physicians choosing careers in oncology, the pool of practitioners with expertise in SCD is shrinking. This underscores the time-sensitive need for building an effective, sustainable, and patient-centered sickle cell educational curriculum early in training. At present, there is no widely used resource for SCD-specific education, and little research has been published describing physician education for this complex disease. This qualitative study is the first part of a two-part study which aims to serve as a needs assessment to understand the SCD specific educational demands of trainees and set the stage for survey development for wider distribution. Methods Residents applying for hematology/oncology fellowship and current fellows were recruited to participate in focus groups to explore trainees' preferences and attitudes for education on the management of patients with SCD. Trainees were recruited via email from seven academic institutions in the US from regions with a high prevalence of SCD. A focus group guide was developed inquiring about trainee perspectives on facilitators and barriers to obtaining sickle cell specific education. Using an inductive and iterative thematic analysis coding approach, all focus group transcripts were coded by an academic hematologist specializing in SCD (LV) and an academic psychiatrist specializing in SCD (EP). Codes were categorized and themes and subthemes developed. Results Four focus groups were conducted with a total of 15 participants (2 PGY 3 residents, and 13 hematology/oncology fellows PGY 4-6). Three themes were identified (Table): 1. Discomfort caring for patients with SCD. Trainees experienced feelings of fear, frustration, and powerlessness when caring for patients with SCD. 2. Challenges managing SCD. Trainees described the complexity of SCD management, limited treatment options and evidence-based practice, and navigating bias in healthcare as contributing to the challenge of treating patients with SCD. 3. Desire for SCD specific education during fellowship.Trainees noted ideal components of education should include exposure to patients longitudinally and in multiple settings, access to SCD expertise in the form of experts and expert guidelines, and SCD specific didactic content. Conclusions This study examined the experience of trainees with regards to SCD education and clinical care. Participants described how a lack of SCD specific education reinforced a cycle of discomfort and difficulty caring for patients with SCD (Figure). Lack of exposure to patients and access to experts impedes developing a sense of mastery in treating SCD. SCD education was underemphasized even at institutions with a high prevalence of SCD and a SCD program. Evidenced-based guidelines based on low evidence hinders self-directed learning. Overall, SCD specific education is under-emphasized in fellowship. Trainees who felt the most comfortable had a SCD specific curriculum integrated throughout the fellowship experience. A SCD specific curriculum in the form of case-based didactics and a SCD rotation, where feasible, should be built into hematology/oncology fellowship training to increase trainees' knowledge, comfort and therefore desire in caring for patients with SCD. This qualitative research study is the first of its kind and serves to set the stage for survey development to capture a larger needs assessment of the SCD specific educational demands of hematology/oncology fellows. Optimizing the care of persons with SCD requires a competent and confident workforce. This study provides key insights into the development of infrastructure to support such training.

Knowledge of Healthcare Workers about SCD in India- Barrier to “Elimination of Sickle Cell” Program

Introduction:India ranks second in SCD prevalence worldwide. The disease is more common in rural areas, with a higher density of tribal and socioeconomically challenged populations. With a special focus on the upliftment of these groups, the government has rolled multiple programs, including national sickle cell missions, aimed at early diagnosis and prevention of morbidity and mortality. Knowledge of healthcare workers (HCW) is one of the most important drivers of healthcare interventions, especially when investigations and treatments have been made accessible according to standard treatment guidelines. This study was undertaken to assess the extent of knowledge of healthcare professionals about SCD, its treatment, and management, in various parts of India, including the areas with high prevalence and low prevalence. Methods:This was an observational cross-sectional study. The questionnaire was a slightly modified DFConhecimento instrument (Deniz et al.) and was sent to HCW using a web tool to be filled through a link. The questions were in a multiple-choice setup, and participants had to choose the best response for each question. The instrument scores were calculated with one being assigned for correct answers and zero for incorrect answers (Total score-0-13) for the 13 questions copied from the original instrument. To calculate the overall knowledge of SCD, the sum of all correct answers was calculated considering the following knowledge score ranges: &amp;gt;7 (more than 54 % accuracy)as good or adequate knowledge and ≤ 7(54 % or less accuracy) as poor or inadequate knowledge. A minimum sample size of 384 participants was required for this study. Standard statistical methods were used for the statistical analysis. Result: A total of 416 HCW participated in this survey. The median age of the participants was 34 years, and 190 participants (45.7%) were male. Two hundred seventy-four (65.8%) participants reported providing healthcare services to patients with SCD. Fifty-nine participants (14.2%) received SCD training. The majority had experience of working long term in medical facilities-38.2 % (159/416) were working for more than 10 years. On assessing the knowledge, 52 (12.5 %) had good(adequate) knowledge and 364 (87.5%) had poor(inadequate) knowledge. In the prevalent zone, 14.7% of the HCW had adequate knowledge, and in the non-prevalent zone, only 2.6% had adequate knowledge. On univariate analysis, male sex (OR (95 CI)= 3.97 (2.04- 7.72)), doctors as HCW( OR (95 CI)= 8.010 (3.787-16.943)), postgraduate educational status(OR (95 CI)= 3.195 (1.753- 5.824)), experience of &amp;gt; 10 years (( OR (95 CI)= 3.550 (1.631- 7.729] ), and healthcare workers who received short training in SCD ( OR (95 CI)= (2.612 (1.313- 5.195] ) were associated with adequate knowledge. On multivariate analysis, doctors as healthcare workers (OR (95 CI)= 4.891(2.174-11)) were associated with adequate knowledge. Conclusion:According to our survey, a very low number of HCW (only 14.7%) had adequate knowledge. This situation is far from expected, even in areas where SCD is prevalent. This is an alarming situation that requires urgent attention from all the stakeholders. With the government rolling out a massive mission to eliminate SCD, poor knowledge of healthcare workers is likely to serve as a major roadblock. There is an urgent need to focus on skill development, capacity building, and empowerment of HCW in SCD. This will eventually improve the care and prognosis of SCD patients.

The prevalence of Sudden Cardiac Death among workers: a systematic review and meta-analysis

Abstract Background Sudden cardiac death (SCD) is one of the main causes of death worldwide, and it continues to be a significant public health concern. In Europe, the prevalence of sudden cardiac death differs between countries and populations; it is estimated to account for approximately 20% of all deaths. However, there are few data regarding the prevalence of SCD among employees. This systematic review and meta-analysis aim to investigate the prevalence of this phenomenon in workers and recommend potential interventions and preventive measures that could be implemented in the workplace to reduce the risk of SCD in employees. Methods A systematic review and meta-analysis was performed on three databases: PubMed, Scopus, and Web of Science, according to the PRISMA statement. There were no time restrictions placed on the evaluation of English-language source documents. Using the Egger regression model, publication bias was evaluated. A forest plot was used to demonstrate the pooled prevalence of Sudden Cardiac Death in workers. STATA Software/MP, version 14.1 was used for the statistical analyses. Results The initial search resulted 1,408 relevant articles across all three databases; after removing duplicates and filtering the abstracts, the full texts of 23 articles were reviewed, and 17 were excluded due to a wrong outcome. Six articles were subsequently included in the systematic review and meta-analysis. A proportional meta-analysis was carried out on the 6 included studies and the pooled prevalence of Sudden Cardiac Death in employees was 17.48% (95% CI: 6.70-31.91%). Conclusions SCD is a severe and potentially preventable illness that can affect employees and cause fallout from European and global health policies. We can reduce the incidence of SCD and enhance the cardiovascular health and well-being of workers by identifying and addressing work-related risk factors, providing appropriate screening and interventions, and promoting healthy lifestyle behaviors. Key messages • Promote a healthy lifestyle in the workplace, such as regular physical activity, healthy eating and stress reduction techniques, at European and global level. • Implement, in European countries and worldwide, screening strategies during health surveillance visit, such as performing ECGs or specialist cardiology consultations, for the work population at risk.

Evaluation of treatment patterns, healthcare resource utilization and cost of illness for sickle cell disease in Ghana: a private medical insurance claims database study

BackgroundSickle cell disease (SCD) is a major public health concern in sub-Saharan Africa, accounting for nearly 75% of the global disease burden. The current analysis evaluated patient characteristics, treatment patterns, healthcare resource utilization (HCRU) and associated costs in patients with SCD based on a Private Medical Insurance Database in Ghana.MethodsThis retrospective longitudinal cohort study was conducted using an e-claims database from Ghana (01 January 2015 to 31 March 2021). Patients were stratified by age (0 month to < 2 years, ≥ 2 years to ˂6 years, ≥ 6 years to < 12 years, ≥ 12 years to < 16 years; ≥16 years), vaso-occlusive crisis (VOC) (< 1, ≥ 1 to < 3, and ≥ 3 per year), and continuous enrolment. Study outcomes related to patient characteristics, comorbidities, treatment pattern, HCRU were evaluated for pre- and post-index period (index period was between July 2015 to March 2020). Descriptive analysis was used to analyse different study variables.ResultsThe study included 2,863 patients (mean age: 20.1 years; Min age: 0; Max age: 83; females 56.1%). Overall, 52.2% (n = 1,495) of SCD patients were ≥ 16 years and 17.0% (n = 486) were in the ≥ 2 to ˂6-years age group. The majority of patients aged ≥ 16 years (62.5%) in the database did not have reported VOC episodes, 35.9% of patients had 1 to 3 VOCs per year and 1.5% had ≥ 3 VOCs per year during the follow-up period. Consultation-based prevalence of SCD was 0.5% [95% confidence interval (CI): 0-1.3%] − 1.4% [CI: 0.6-2.2%]. Malaria, upper respiratory tract infection (URTI) and sepsis were the common complications of SCD. Analgesics were the most frequently prescribed medications followed by anti-infectives, hematinics, and antimalarials. Hydroxyurea, a routine standard of care for SCD was under-utilized. SCD patients had median cost incurred for consultation/hospital services of $11.3 (Interquartile range [IQR] $6.2 - $27.2). For patients with VOC, maximum median cost was incurred for medications ($10.9 [IQR $5.0-$32.6]). Overall median healthcare cost was highest for individuals with ≥ 3 VOCs per year during the follow-up period ($166.8 [IQR $70.3-$223.5]).ConclusionIn this retrospective private insurance claims database analysis, SCD imposes a significant healthcare burden, especially in patients with VOC. There is a need for reimbursed treatment options that could reduce the long-term burden associated with SCD and VOC.

Knowledge and perception related to sickle cell disease among tribal community, India: A mixed-method study

BackgroundSickle cell disease (SCD) is a public health problem. In absence of a pan-country intervention program in India, SCD prevalence is ascending without control. Since knowledge and perception of a community is a prerequisite for developing an intervention strategy, the current study was designed to assess it in a high SCD burden tribal-dominated district of Odisha. MethodsA mixed-method study combining qualitative and quantitative methods was conducted in the Kandhamal district, Odisha, India. A cross-sectional survey was conducted among randomly selected 1600 individuals, using a pre-tested questionnaire and 26 in-depth interviews were conducted with key informants. ResultsAlthough 74.2% of the participants in the studied area had heard about the disease, only 13.6% know the cause of the disease. 69% had the knowledge to opt for modern medication. However, treatment compliance was poor, patients resort to using medications only during the crisis stage. Individuals who had knowledge about disease aetiology got to know about SCD from lived experiences of themselves, close relatives, or villagers and rarely from health workers. The community members had no clarity regarding which health centre to be approached for routine medication and management of SCD crisis. ConclusionThe area is endemic for SCD, yet, the community lacks knowledge about the cause and treatment modality of the disease. In addition, currently there is no government-run intervention programme for screening and management of SCD related morbidity. Hence, a community based intervention strategy needs to be implemented urgently for enhancing the knowledge, perception, and aptitude related to SCD.

Incidence of subjective cognitive decline in a private practice memory clinic

AbstractBackgroundSubjective Cognitive Decline (SCD) has been one focus of interest in dementia research, partly because of the concept that some people with SCD may be in the earliest stage of Alzheimer Disease (AD). The prevalence of SCD has been reported as ranging from 15‐54%, but most estimates come either from population‐based studies or from academic Memory Clinics. The author is the sole provider in a Memory Clinic established in a private‐practice healthcare company in a large US city, and evaluates all new patient referrals for cognitive complaints.MethodAll new patient evaluations for referrals to the Novant Health Memory Clinic in Charlotte, NC, for a period of one year (2021), were reviewed. The number of cases diagnosed as having AD, the number diagnosed with Mild Cognitive Impairment (MCI), and the number with SCD, were tabulated. AD and MCI were diagnosed according to the clinical criteria from the National Institute on Aging and Alzheimer’s Association. Diagnosis of SCD was made according to the criteria published by the Subjective Cognitive Decline Initiative (SCD‐I) Working Group.ResultDuring 2021, there were a total of 886 new patient evaluations in the Memory Clinic. Of those, 323 (36%) patients met clinical criteria for AD, 272 (31%) met criteria for MCI, and 211 (24%) for SCD.ConclusionSCD is relatively common in the private practice Memory Clinic setting. This could afford a potential to identify those people without dementia, who are at risk for later developing AD. The high prevalence of SCD may also create a market for unproven treatments for memory loss.

HEARING LOSS AND SUBJECTIVE COGNITIVE DECLINE IN THE ARIC-NEUROCOGNITIVE STUDY

Abstract Subjective cognitive decline (SCD) impacts quality-of-life, healthcare utilization and predicts dementia. If hearing loss is associated with SCD is unknown. We estimated the cross-sectional association between hearing loss and SCD in 2,536 participants (79.3±4.4 years, 60% female, 20% Black) in the Atherosclerosis Risk in Communities Neurocognitive Study. SCD was defined as self-reported persistent decline in memory (yes/no) among adults with normal cognition. Hearing was measured using pure tone better-ear thresholds (0.5-4 kHz), speech-in-noise, and self-report. Using Poisson models with robust standard errors, after adjustment for demographic and clinical covariates, self-reported moderate or greater trouble hearing (vs. excellent/good) was associated with a 30% increase in the prevalence of SCD (95%CI:1.12,1.51). Audiometric hearing and speech-in-noise performance were not associated. Use of self-report to approximate audiometric hearing warrants caution, particularly when the outcome is also self-reported; our findings suggest the association between self-reported hearing and SCD may be due to correlated measurement error.

Challenge of a dual burden in rapidly aging Delaware: Comorbid chronic conditions and subjective cognitive decline.

Epidemiologic trends forecast a "dual burden"- increase in both physical chronic diseases and Alzheimer's disease (AD)- for Delaware. Estimating the burden and characteristics of this "dual burden" is critical. Cognizant of the unavailability of precise models to measure AD, SCD-a population-based measure- was used as an alternative. The primary objective was to delineate selected chronic conditions among Delaware adults with SCD in order to present: (i) prevalence of SCD by select sociodemographic characteristics, (ii) compare the prevalence of chronic conditions among people with and without SCD, and (iii) compare the prevalence of SCD associated functional limitations in Delawareans with and without comorbid chronic conditions. Combined data (2016 and 2020) for Delaware were obtained from the Behavioral Risk Factor Surveillance System. Analyses included 4,897 respondents aged 45 years or older who answered the SCD screening question as "yes" (n = 430) or "no" (n = 4,467). Descriptive statistics examined sociodemographic characteristics and chronic conditions in Delawareans with and without SCD. Overall, 8.4% (CI: 7.4-9.5) of Delaware adults reported SCD. Delawareans with SCD were more likely to be in the younger age group (45-54 years), less educated, low income and living alone. Over 68 percent had not discussed cognitive decline with a health care professional. More than three in four Delawareans with SCD had a 1.5 times higher prevalence of having any one of the nine select chronic conditions as compared to those without SCD. Adults with SCD and at least one comorbid chronic condition were more likely to report SCD-related functional limitations. Delaware cannot afford to postpone public policies to address the dual burden of SCD and chronic conditions. Results from this study can help public health stakeholders in Delaware to be informed and prepared for the challenges associated with cognitive decline and comorbidity.

A study of spectrum of sickle cell anemia and thalassemia in a teaching institute of South India.

Sickle cell syndrome is a group of inherited hematological disorders with varying degrees of anemia, jaundice, fatiguability along with hepatomegaly and splenomegaly. The clinical presentations can be may vary and therefore require thorough investigations. We tried to evaluate the spectrum of sickle cell anemia and thalassemia in pediatric patients of our hospital. In this cross-sectional study, A total of n = 200 consecutive cases were detected during the period of study. A thorough history and detailed clinical examination were done. Hb electrophoresis was done in the present study using HYDRASYS ® Electrophoresis Systems from Sebia. The overall prevalence of SCD in our study was 6.83% the existence of this is found to be greater in the males as compared to females which is in agreement with prevalence across India with more male than female. Thalassemia was prevalent at the rate of 3.96%, sickle cell anemia had a prevalence of 1.98% sickle thalassemia was 0.89%. N = 20 pairs of Parents recognized genetic counseling i.e., with a single child or who wanted further children readily underwent HPLC analysis. The existence of SCD in our study group is lesser as compared to the South India average. Preventive programs consisting of public education, population screening, genetic counseling, and prenatal diagnosis have been very effective in reducing both rates of β-Thalassemia major. Sickle cell anemia is of prime importance because of its high prevalence, morbimortality and the absence of curative treatments.

P110: CLINICAL CHARACTERISTICS OF COVID-19 IN SICKLE CELL DISEASE (SCD) PATIENTS

Introduction SCA is a common genetic disorder in Saudi Arabia with estimate of 1.4 % of population(1,2). The prevalence of SCD in Jazan region is around 24 per 10,000 which consider the second region with high prevalence of SCD after eastern province. COVID 19 infection outbreak has affected SCD with different outcome. Objectives: This research aims to determine the clinical picture of COVID-19 in patients with sickle cell disease SCD. The study represented the risk factors for severe COVID-19 presentation and predictors for poor prognosis in this group of patients. Methods: This study is a retrospective, descriptive, observational study of SCD adult and pediatric patients in Prince Mohammed Bin Nasser Hospital, Jazan, Saudi Arabia, who were diagnosed with COVID-19 virus infection at the study center from March 2020 to September 2021. To describe clinical presentation of SCD patients of different severities, who got COVID-19 during the study, socio-demographic data, clinical presentations, laboratory parameters, medications use, as well as COVID-19 symptoms and severity were extracted and analyzed from the medical record files. Results: 43 medical records for adult and pediatric sickle cell patients with COVID-19 were collected, in order to determine the impact of COVID-19 on the clinical presentation of SCD patients. (53%) were females, (47%) were males with a mean age of 24 years (±1.9). (37%) of the sample suffered from major comorbidities, out of which 44% had ACS. and 11.6% have pulmonary embolism. The most prevalent clinical symptoms were fever (56%) and Shortness of Breath (37%). (16%) of included patients were admitted to the ICU with an average length of stay equals to 3.9 days (±0.6). CBC showed normal averages of PLT with a mean equal to 327 K/uL (±21.6), Basophils 0.05 K/uL (±0.01), Lymphocytes 3.6 K/uL (±0.4). High averages were found for WBC 13.8 K/uL (±1.1), Neutrophils 8.8 K/uL (± 0.9) and PT 14.2 seconds (±0.3). The only laboratory parameter that showed low average reading was Hemoglobin, with a mean equal to 8 g/dl (±0.2). Out of the 41 patients who undergone CRP test, 85% were positive. The main CT chest finding were ground glass appearance in 30% of the patients 88% of the studied patients were on Hydroxyurea, 76% were on 1000 mg dose. For COVID-19 management, majority of patients were on Antibiotics 93%, 70% of patients started Anticoagulants, 51% of the patient has received antiviral treatment. 32.5% of the patient were treated with steroids. 70% of the patients have received blood transfusion. 5 patients 12% were managed at home. One patient had coinfection with falciparum malaria. Total deaths was 2 patients represented 4.6 % out of total SCD patients with COVID-19 who were included in the study. Conclusion: After exploring the impact of COVID-19 on SCD patients, the main presenting symptom were fever and shortness of breath. The major complication were acute chest syndrome 44% and pulmonary embolism in 12%. The overall prognosis was excellent and most of the patient have recovered. The death was reported in 2 patients only. Outpatient treatments were feasible in 12% of the patients.

Sickle Cell Disease in Sweden - Prevalence and Resource Use Estimated through Population-Based National Registers

BACKGROUNDSickle cell disease (SCD) is an autosomal recessive disorder characterized by abnormal hemoglobin. SCD causes hemolytic anemia, vaso-occlusion leading to vaso-occlusive crises (VOC) and contributing to organ damage and early death. SCD is most prevalent in sub-Saharan Africa and the Middle East, but also countries such as Brazil, India and US, have comparatively high frequencies of SCD. Global migration has contributed to a greater geographical spread. The prevalence of SCD in Sweden is unknown.OBJECTIVEThe primary objectives of this study were to estimate the 1-year prevalence of SCD and SCD-associated resource use in Sweden. Secondary objectives were to estimate birth incidence, treatment patterns and survival.PATIENTSPatients with an ICD-10 diagnosis code for SCD (any D57 [excluding D57.3, sickle cell trait]) were identified from the Swedish Patient Registry (between January 1 st 2001 and June 30 th 2018). Patients were assessed for 1-year prevalence and resource use per calendar year for a follow-up period of 13 years (2006-2018).METHODSPatients were considered prevalent from birth or immigration to death or emigration. Resource use from specialized care, including all events recorded in the registry with any D57 as the main diagnosis was assessed in the follow up period 2006-2018 as number of outpatient visits and inpatient stays. Costs for this hospital resource use were estimated through remuneration amounts based on diagnosis related groups. Data on sick leave days and days with disability pension due to SCD in patients in working age (18-65 years) were retrieved from the Swedish Social Security Agency and costed with the mean salary in Sweden, plus social security contributions. Costs are reported in 2019 Swedish Krona (SEK, ≈$ 0.1).RESULTSOne-year prevalence of all SCD diagnosis increased from 504 patients (5.53 per 100,000 population) in 2006 to 670 patients (6.55 per 100,000 population) in 2018. The 1-year prevalence of SCD patients ever recorded with an ICD-10 code for SCD with VOC (D57.0) increased from 139 patients (1.53 per 100,000 population) in 2006 to 260 patients (2.54 per 100,000 population) in 2018. The proportion of prevalent patients that were born in Sweden decreased over the years, from approximately 55% in the beginning of the study period to 45% in the end of the study period. The mean and median age of the SCD population decreased over the study period. Individuals with SCD and VOC were, on average younger than the other SCD (D57) subgroups.Birth incidence was captured by calendar year 2006-2018 and was highest in 2007 with 15 children born with SCD. For Swedish-born children with SCD during the patient identification time (n=123), the mean time to identification in the registers was 2.6 years (SD 2.7, range 0-16 years).Hospital outpatient visits and inpatient stays with SCD (all events with D57 recorded) as main diagnosis increased from 57 to 189, and 250 to 1,003, respectively, over the years 2006-2018. This corresponded to costs of inpatient care increasing from 1.4 million (M) SEK in 2006 to 7.3 M SEK in 2018 and costs of outpatient visits increasing from 0.9 M SEK in 2006 to 4.6 M SEK in 2018. The vast majority of costs were incurred in individuals ever recorded with a SCD with VOC diagnosis (D57.0). The most frequent hospital treatment was blood transfusion, with 8-11% of patients receiving transfusion in each year studied, especially common in SCD and VOC diagnosis. The prescribed treatment with the highest increase of uptake over the study period were hydroxyurea, vitamins and paracetamol in all SCD.Individuals in working age had on average 2.3 days of sick leave per patient-year due to SCD (D57), and approximately 4% of these patients received disability benefits because of their SCD.During the follow-up period, the median age at death was 74 years for all SCD and 69 years for SCD with crisis, this is 7-10 years and 12-15 years less compared to the Swedish general population respectively.CONCLUSIONThis study demonstrates that the prevalence, hospital resource use and associated costs have increased substantially in Sweden. In an era of emerging treatments for SCD we have for the first time comprehensively described epidemiological-, disease-related and economical aspects of SCD in Sweden. DisclosuresHernlund: ICON: Current Employment. Ivergård: ICON: Current Employment. Svedbom: ICON: Current Employment. Dibbern: Novartis: Current Employment. Stenling: Novartis: Current Employment. Sjöö: Novartis: Ended employment in the past 24 months. Vertuani: Novartis: Current Employment. Glenthøj: Saniona: Research Funding; Bristol Myers Squibb: Consultancy; Agios: Consultancy; Novo Nordisk: Honoraria; Novartis: Consultancy; Alexion: Research Funding; Sanofi: Research Funding; Bluebird Bio: Consultancy.

A preliminary epidemiologic study of social (pragmatic) communication disorder in the context of developmental language disorder.

There is extremely limited population-based research on social (pragmatic) communication disorder (SCD). Population-based samples have the potential to better characterize the SCD phenotype by mitigating confounds and biases that are typical of convenience and clinical samples. The aims of this preliminary epidemiologic study were to advance our understanding of the SCD phenotype relative to developmental language disorder (DLD), obtain an estimate of prevalence, identify risk factors and lay the groundwork for future population level research of SCD. We analysed existing data from the EpiSLI Database to examine social communication skills in 393 8th grade (13-14 years) children with and without a history of DLD. The primary measure used to evaluate SCD was the Children's Communication Checklist (CCC-2). Two case definitions of SCD reflecting DSM-5 criteria were examined. Both definitions involved significant pragmatic impairment, employing a commonly adopted clinical cut-point of 1.5 SD. In one case, pragmatic deficits could occur along with structural language deficits and, in the other case (established using principal component analysis), pragmatic and social skills were disproportionately lower than structural language abilities. When using the first case definition, SCD was much more common in children with a history of DLD than without DLD and history of language disorder at kindergarten was a significant risk factor for SCD in adolescence. However, it is important to note that SCD could be found in children with no prior deficits in other aspects of language. When the second definition was employed, SCD was equally distributed across children with and without a history of DLD. Male sex was a significant risk factor using this case definition of SCD. The estimated prevalence of SCD ranged from 7% (SE = 1.5%) to 11% (SE = 1.7%), acknowledging that prevalence depends on the cut-point selected to determine communication disorder. These findings contribute to our understanding of the association between SCD and DLD by recognizing varying profiles of pragmatic and social communication difficulties, which in turn may help refine our diagnostic categories. Preliminary prevalence estimates of SCD can serve as an initial guidepost for identification and planning for intervention services for this condition. What is already known on this subject There is considerable debate about the diagnostic category of SCD and its relation to other neurodevelopmental disorders. What this study adds to existing knowledge Using data from a US-based epidemiologic sample of DLD, this study offers new information about the association between SCD and DLD, provides preliminary estimates of SCD prevalence, and identifies risk factors for SCD. Clinical implications of this study Improved understanding of possible profiles of pragmatic and social communication deficits will help to clarify diagnostic categories and preliminary prevalence estimates may assist with ensuring availability of adequate intervention services.

Racial and ethnic disparities in subjective cognitive decline: a closer look, United States, 2015\u20132018

BackgroundSubjective cognitive decline (SCD), characterized by self-experience of deterioration in cognitive performance may be a precursor to Alzheimer’s disease (AD). Given the association of AD with dependence and disability for a long duration, earlier the detection, the sooner people and their families can receive information regarding better management. It is critical to explore disparities amongst racial and ethnic populations with SCD in order to facilitate targeted interventions. The primary objective was to identify disparities in prevalence of SCD amongst Whites, Blacks and Hispanics by select sociodemographic characteristics and functional limitations in a U.S. population-based sample of non-institutionalized adults aged 45 and older. The secondary objective was to assess the association between SCD and select chronic conditions (angina, heart attack, stroke, diabetes, high blood pressure and high cholesterol) by race/ethnicity.MethodsCombined data (2015–2018) were obtained from the Behavioral Risk Factor Surveillance System (BRFSS) to conduct a population -based study. Analyses included 179,852 respondents aged 45 years or older who answered the SCD screening question as “yes” (n = 19,276) or “no” (n = 160,576). Descriptive statistics examined sociodemographic characteristics including functional limitations amongst racial/ethnic groups with SCD. Association of SCD with chronic conditions by race/ethnicity was also calculated.ResultsOverall, 10.8% (CI: 10.6–11.1) of adults aged 45 years or older reported SCD.10.7% Whites, 12.3% Blacks and 9.9% Hispanics experienced SCD. Blacks and Hispanics with SCD were more likely to be in the younger age group (45–54 years), less educated, low income, without access to health care, living alone and with functional limitations. Only half had discussed cognitive decline with a health care professional. Prevalence of selected chronic conditions was significantly higher in all racial/ethnic groups with SCD.ConclusionsDemographic trends predict a larger proportion of Hispanics and Blacks with SCD in the coming years. This information can lead to identification of opportunities for addressing negative SCD outcomes in minorities affected by inequitable conditions.

Estimating prevalence of subjective cognitive decline in and across international cohort studies of aging: a COSMIC study

BackgroundSubjective cognitive decline (SCD) is recognized as a risk stage for Alzheimer’s disease (AD) and other dementias, but its prevalence is not well known. We aimed to use uniform criteria to better estimate SCD prevalence across international cohorts.MethodsWe combined individual participant data for 16 cohorts from 15 countries (members of the COSMIC consortium) and used qualitative and quantitative (Item Response Theory/IRT) harmonization techniques to estimate SCD prevalence.ResultsThe sample comprised 39,387 cognitively unimpaired individuals above age 60. The prevalence of SCD across studies was around one quarter with both qualitative harmonization/QH (23.8%, 95%CI = 23.3–24.4%) and IRT (25.6%, 95%CI = 25.1–26.1%); however, prevalence estimates varied largely between studies (QH 6.1%, 95%CI = 5.1–7.0%, to 52.7%, 95%CI = 47.4–58.0%; IRT: 7.8%, 95%CI = 6.8–8.9%, to 52.7%, 95%CI = 47.4–58.0%). Across studies, SCD prevalence was higher in men than women, in lower levels of education, in Asian and Black African people compared to White people, in lower- and middle-income countries compared to high-income countries, and in studies conducted in later decades.ConclusionsSCD is frequent in old age. Having a quarter of older individuals with SCD warrants further investigation of its significance, as a risk stage for AD and other dementias, and of ways to help individuals with SCD who seek medical advice. Moreover, a standardized instrument to measure SCD is needed to overcome the measurement variability currently dominant in the field.

Subjective cognitive impairment differs by racial/ethnic groups and sociodemographic factors: The Multi‐Ethnic Study of Atherosclerosis and Alzheimer’s Disease (MESA‐MIND)

AbstractBackgroundSubjective cognitive decline (SCD) is associated with objective cognitive decline, incident cognitive impairment, and AD pathology in mostly white populations. Little data are available to describe SCD and objective cognitive impairment in diverse populations.MethodThe Multi‐Ethnic Study of Atherosclerosis (MESA) began cognitive testing, including the Cognitive Abilities Screening Instrument (CASI), in 2010‐12 among four racial/ethnic groups: 38% white, 28% African‐American, 22% Hispanic, and 12% Chinese Americans across six field centers. MESA‐MIND and ancillary studies added repeated CASI by in‐person exam (2016‐2018) and the 12‐item Cognitive Change Index (CCI‐12) during the 2018 annual follow‐up call. Statistical analyses using the CCI‐12 item sum and two published thresholds (CCI‐12≥16 and CCI‐12≥23) established the point prevalence for SCD across racial/ethnic groups. Socio‐demographic factors were examined using multivariable logistic regression. Spearman correlations and general linear models related 5‐year subjective change (CCI‐12) and objective change in cognitive performance (change in CASI) over the same time period.ResultCCI‐12 data were available on 3,676 MESA participants (aged 60‐95) across all racial/ethnic groups and sites. Table 1 presents demographics, CCI‐12 scores, and CASI scores. The prevalence of SCD (CCI‐12≥16) across racial/ethnic groups ranged between 52% to 72%. There was a lower prevalence in African‐American and white and a higher prevalence in Chinese and Hispanic participants. In adjusted models, various socio‐demographic factors were significantly associated with a higher odds of reporting SCD (CCI‐12≥16), including: older age, female gender, Chinese language preference, diabetes, smoking, birth in the Western US or Mexico, and lacking health insurance coverage. African‐American ethnicity, higher education, and income greater than $75,000 were each associated with a lower reporting of SCD. CCI‐12 was weakly and inversely correlated with antecedent cognitive performance (2010‐12, n=3,200, Rho=‐0.16, p&lt;0.01) and cognitive decline (n=1,800, Rho=‐0.06, p=0.01) over 6 years of follow‐up. In stratified analyses, associations between CCI‐12 and objective cognitive decline were observed in white participants only.ConclusionIn a large regionally and ethnically diverse cohort of older adults, SCD defined by subjective memory concerns on the CCI‐12 significantly differed by race/ethnicity and indicators of socioeconomic status, suggesting that cultural and institutional biases may influence reporting SCD in diverse populations.