scholarly journals Quantifying the Levels of Knowledge, Attitude, and Practice Associated with Sickle Cell Disease and Premarital Genetic Counseling in 350 Saudi Adults

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Heba M. Al-Qattan ◽  
Dana F. Amlih ◽  
Fatima S. Sirajuddin ◽  
Dalal I. Alhuzaimi ◽  
Mai S. Alageel ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Public Healthcare ◽  
Sociodemographic Characteristics ◽  
Age Group ◽  
Cell Disease ◽  
Care Clinic ◽  
Attitude And Practice ◽  
Knowledge Attitude And Practice

Our study aims to observe the levels of knowledge, attitude, and practice (KAP) associated with sickle cell disease (SCD) and premarital genetic counseling (PMGC) in 351 Saudi adults. The relationships between KAP levels and sociodemographic characteristics (age, gender, marital status, and educational level) were observed. The study was conducted in King Khalid University Hospital between February 21, 2017, and March 7, 2018. A total of 351 Saudi participants attending the primary care clinic were selected using convenience sampling and were given a self-administered questionnaire. Overall, the 351 participants had the best attitude (41% scoring “good”), followed by knowledge (28.8%), and, lastly, practice (19.1%). Out of the sociodemographic characteristics, age group was the most statistically significant in all the three categories (knowledge, attitude, and practice). The > 50-year age group performed the worst in all the three categories. Despite the advancements in public healthcare measures in Saudi Arabia, our study revealed that there are still many gaps to be filled regarding the knowledge, attitude, and practice associated with SCD and PMGC.

Intrauterine Diagnosis for Sickle-Cell Disease

PEDIATRICS ◽  
1973 ◽  
Vol 52 (3) ◽  
pp. 463-463
Author(s):  
John M. Carr
Keyword(s):  
At Risk ◽  
Genetic Counseling ◽  
Family Planning ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Healthy Children ◽  
Cell Disease ◽  
Intrauterine Diagnosis

In Pediatrics, Volume 51, No. 4, April 1973, there is a commentary by Fost and Kaback entitled, "Why Do Sickle Cell Screening in Children?"1 On page 742 there appears this statement, "Genetic counseling might assist parents in family planning and the possibility of intrauterine diagnosis of sickle-cell disease would offer a more meaningful opportunity for parents at risk to bear healthy children." This statement seems vague and confusing in an otherwise reasonably straightforward article. If the authors are suggesting that such women either be aborted or counseled concerning the possibilities of this, why not come out and say so?

WHY DO SICKLE SCREENING IN CHILDREN?

PEDIATRICS ◽  
1973 ◽  
Vol 51 (4) ◽  
pp. 742-745
Author(s):  
Norman Fost ◽  
Michael M. Kaback
Keyword(s):  
Genetic Counseling ◽  
Sickle Cell Disease ◽  
Clinical Significance ◽  
Sickle Cell ◽  
Early Identification ◽  
Cell Disease ◽  
Pilot Studies ◽  
Population Groups ◽  
Screening Programs

An approximate desire to "do something" about sickle cell disease has produced a plethora of sickle screening programs. While the advantages of early identification of individuals with sickle cell disease is apparent, the purpose of identifying children with sickle trait is less clear. There is uncertainty about the clinical significance of sickle trait, and there are ethical and legal hazards in being so identified. The demonstrated failure of genetic counseling to successfully transmit information in other population groups also dictates a reexamination of the presumed benefits of sickle screening programs. Screening programs should be initiated after pilot studies have resolved these issues, not before.

scholarly journals Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Oladele Simeon Olatunya ◽  
Adefunke Olarinre Babatola ◽  
Ezra Olatunde Ogundare ◽  
Babatunde Ajayi Olofinbiyi ◽  
Olubunmi Adeola Lawal ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Sickle Cell Disease ◽  
Early Diagnosis ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Universal Coverage ◽  
Cell Disease ◽  
Cross Sectional ◽  
Southwestern State

Background. Early sickle cell disease (SCD) diagnosis has shown promise in combating SCD in many countries. The aim of this study was to assess the practice and perception of early SCD diagnosis among a group of parents and physicians in Nigeria. Patients and Methods. This was a cross-sectional descriptive study conducted to assess the opinions and practice of early diagnosis of SCD among 135 physicians caring for SCD patients and 164 mothers of children with SCD in a southwestern state of Nigeria. Results. Most physicians 132 (97.8%) were aware of prenatal SCD diagnosis, but only 51 (37.8%) would recommend it. Most physicians 129 (95.6%) routinely recommend premarital SCD genetic counseling and testing, and 89 (65.1%) were aware of the national government newborn screening program but lesser proportion 75 (55.6%) were willing to recommend it. Amongst the mothers, 154 (94%) and 158 (96%) had encountered genetic counseling for SCD and were willing to offer newborn screening to their children, respectively. On the contrary, fewer mothers 42 (25%) were aware of prenatal SCD diagnosis, 28 (17%) were willing to partake in it, and 44 (26%) were undecided. There were discrepancies in the willingness by physicians to practice early SCD diagnosis and its uptake by mothers (p<0.0001). The commonest reason given by both the physicians and mothers for not practicing SCD prenatal diagnosis was the high cost of the procedure. Conclusion. The perceptions and practice of early SCD diagnosis was suboptimal in the study locality. Scaling up awareness and universal coverage are required.

scholarly journals Implementing a standard-of-care clinic for stroke prevention in children with sickle cell disease in Nigeria: a feasible strategy outside a clinical trial setting

2017 ◽  
Vol 1 (Suppl) ◽  
pp. 23-25
Author(s):  
Najibah A. Galadanci ◽  
Shehu U. Abdullahi ◽  
Leah D. Vance ◽  
Musa A. Tabari ◽  
Shehi Abubakar ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Stroke Prevention ◽  
Standard Of Care ◽  
Cell Disease ◽  
Care Clinic ◽  
Clinical Trial Setting ◽  
Trial Setting

scholarly journals Emergency Department Encounters, Hospitalizations and ED Reliance Among Medicaid Eligible Patients with Sickle Cell Disease in North Carolina

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 2113-2113
Author(s):  
Paula Tanabe ◽  
Nancy Crego ◽  
Christian Douglas ◽  
Emily Bonnabeau ◽  
Marian Earls ◽  
...  
Keyword(s):  
North Carolina ◽  
Sickle Cell Disease ◽  
Old Age ◽  
Sickle Cell ◽  
Research Funding ◽  
Claims Data ◽  
Age Group ◽  
Cell Disease ◽  
Old Patients ◽  
The Mean

Introduction: Sickle cell disease (SCD) is a complex disease for which pain is the hallmark. Pain from vaso-occlusive episodes is the number one reason for ED visits and hospital admissions. This paper reports Medicaid claims data from NC for individuals with SCD, including: 1) ED encounters and re-encounters within 7, 14 and 30 days; 2) hospitalization and re-hospitalization within 7, 14 and 30 days; and 3) ED reliance (EDR) score. Methods: We examined Medicaid claims data from for patients with a diagnosis of SCD (ICD 9 CM codes: 282.6x, ICD 10 CM codes: D57.0x, D57.1, D57.2x, D57.4x, D57.8x) in North Carolina. Data is reported for a cohort of 2,790 patients with a diagnosis of SCD, age 1 to 65+ and enrolled at least 11 months in NC Medicaid between March 1, 2016 and February 28, 2017. ED re-encounters and re-hospitalizations within 7, 14 and 30 days were identified using the time between the date of service listed on the ED or hospital claim and the next date of service in the subsequent claim. Individual ED Reliance (EDR) score was calculated as the total number of ED encounters divided by the total ambulatory visits (outpatient + ED encounters) per enrollee, (ambulatory visits reported elsewhere). Similar to Kroner et al, an EDR of >0.33 was considered a high score. Inpatient claims were identified using a category of service code indicating hospitalization. Results: The participants in the sample (n=2790) were majority female (57.92%), lived in metropolitan areas (77.63%) and had a mean age of 23.05 years old (SD=16.06). Of the 9,075 total ED encounters, 69.86% of the total sample had an ED encounter during the 12-month study period. There was a mean of 3.25 (SD=7.38) and median of 1 (IQR = 0 - 3) ED encounters per patient for the sample. Those who were 18-30 years old had the highest mean and median ED encounters per patient (4.98, SD= 9.34 and 2, IQR 1 to 5). The 31-45 year old group had the second most, with 4.82 (SD= 11.03) total ED encounters. The percentage of the sample with an ED re-encounter within 7, 14, and 30 days was also highest among the 18-30 year old group (29.17%, 33.98% and 40.89%) followed by those 31-45 years old (23.71%, 28.49%, and 34.80%), respectively. The 31-45 age group had the second most hospitalizations/patient and re-hospitalizations. The mean EDR was highest among 18-30 year old patients (0.35) and 46.48% of this age group had an EDR of 0.33 or greater. In the 31-45 year-old age group, the mean EDR was 0.28 and 35.18% had an EDR of 0.33 or greater. The overall sample had a mean of 1.30 (SD= 2.75) hospitalizations/patient. The 18-30 year old age group also had the highest mean total hospitalizations (2.08, SD= 3.72) and mean re-hospitalizations within 7 (0.16; SD=0.77), 14 (0.41; SD=1.68), and 30 (0.82; SD=2.79) days. The 31-45 age group had the second most hospitalizations/patient and re-hospitalizations (Table 1). Conclusions: Overall, increasing age coincided with increased ED and inpatient utilization, as well as with the period of transition from pediatric to adult SCD care. Furthermore, high EDR was most prevalent in the 18-30 age group. Our study further supports the need for increased focus on acute care utilization in the 18-45 year-old age group and considerations for improved care transition interventions. Disclosures Tanabe: NIH: Research Funding; AHRQ: Research Funding. Shah:Novartis: Consultancy, Research Funding, Speakers Bureau; Alexion: Speakers Bureau; GBT: Research Funding.

Evaluation of a Novel Newborn Screening Follow-up Program for Infants with Sickle Cell Disease

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 2344-2344
Author(s):  
Emily Riehm Meier ◽  
Kisha Hampton ◽  
Ellen Bloom ◽  
Natalie Duncan ◽  
Chris Roberson ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Home Visit ◽  
Dna Testing ◽  
Cell Disease ◽  
Confirmatory Testing ◽  
The Mean

Abstract While newborn screening for sickle cell disease (SCD) has improved survival of affected infants through early prescription of prophylactic penicillin and SCD education for the parents, newborn screening follow-up programs are highly variable among states. The novel statewide newborn screening program in Indiana, Sickle SAFE (Screening, Assessment, Follow-up, Education), was started in 2009 and followed infants through the first year of life until 2013 when the program expanded to provide follow-up for the first 5 years of life. Sickle SAFE ensures timely notification and education of families of affected patients and links them to a hematologist. An initial home visit is scheduled and coordinated by the Sickle SAFE Program Coordinator within one month of receipt of abnormal screening results. After the initial home visit, coordinators maintain phone contact with families regularly throughout the enrollment period. An analysis of Georgia Medicaid claims published in 2016 reported that 47.2% of children between 2 and 3 years of age had screening transcranial Doppler (TCD) and 73.6% received PPSV23 (Pneumovax). The current study aims to assess the rates of attainment for recently published quality indicators of pediatric SCD care for children enrolled in Sickle SAFE. A retrospective study was initiated to determine the proportion of children enrolled in Sickle SAFE who received TCD screening between 2 and 3 years of age (HbFS only) and influenza and pneumococcus [PCV (Prevnar) and PPSV23] vaccination. The mean age at confirmatory testing and receipt of penicillin prophylaxis (goal ≤ 2 months) as well as the mean age of the affected infant when families were offered genetic counseling (goal ≤ 6 months) were calculated. From 2009-2012, all positive newborn screens for any sickle hemoglobinopathy were reflexively sent for confirmatory DNA testing. From 2013 onward, only HbFS newborn screens were sent for confirmatory DNA testing. Children who were enrolled in Sickle SAFE less than two years of age were excluded from the PPSV23 and TCD analyses. A total of 141 children were born with SCD and enrolled in Sickle SAFE for at least one year between July 1 2009 and June 30 2015. The majority (56.7%) had HbSS, 32.6% had HbSC, 9.9% were compound heterozygotes for HbS and beta thalassemia and the remaining 0.7% had another sickle hemoglobinopathy. The mean length of follow-up was 2.7 ± 1.0 years. 55.3% were female and 78.7% were African American. 87.2% were publicly insured. Mean age for all patients born with SCD to have confirmatory testing was significantly shorter when confirmatory DNA testing was sent for all affected infants compared to when it was limited to only infants with HbFS [40.3 ±14.1 days (2009-2012) vs. 127.8 ± 173.1 days (2013-2015), p= 1.5E-6]. While the age at confirmatory testing did not differ for infants with HbFS results between the two periods [45.9 ± 14.1 days (2009-2012) vs. 45.8 ± 14.0 days (2013-2015), p=0.98], infants with results other than HbFS were significantly older when confirmatory testing was performed after the process change in 2013 [40.3 ± 14.1 days (2009-2012) vs. 225.3 ± 221.4 days (2013-2015), p=2.6E-6]. Mean age at which genetic counseling was offered to all families with affected children was 26.8 ± 9.9 (range 9-60) days. Mean age at receipt of first dose of penicillin was 28.6 ± 15.0 (range 5-62) days for infants with HbFS, and 29.5 ± 20.1 (range 5-142) days for those with other sickle hemoglobinopathies (p=0.78). 86.5% of enrollees received at least one influenza vaccine while 95.0% had received at least one dose of PCV. Over two-thirds (69.1%) of children with HbFS had TCD screening between the ages of two and three years. 77.3% of Sickle SAFE enrollees who were followed for more than 2 years received PPSV23. Newborn screening for SCD allows for supportive care aimed at reducing morbidity and mortality. Reflex DNA confirmatory testing is an important part of this quality care, regardless of sickle genotype, and our data shows that confirmatory testing is delayed when it is not reflexively performed for all affected infants. The intensive follow-up provided through the Sickle SAFE program increases adherence to quality standards for comprehensive care, as evidenced by a higher rate of TCD screening compared to published data. Education of state departments of health for improved funding and support of programs like Sickle SAFE may help to improve outcomes for affected children. Disclosures No relevant conflicts of interest to declare.

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