Knowledge and Awareness of Sickle Cell Trait Among Young African American Adults.

Sickle cell trait (SCT) places individuals at risk of passing an abnormal hemoglobin gene to biological children and is associated with rare but serious complications. The present study sought to examine knowledge of SCT and awareness of personal trait status among 258 young African American adults. Participants were surveyed regarding demographics, medical history, and sources of sickle cell information before completing a trait knowledge questionnaire. Overall, participants possessed significant misinformation about the condition. Women and those who had learned about sickle cell from families displayed higher levels of knowledge. Most participants were uncertain of personal trait status, and many did not wish to be informed of it. Health care providers should be alert that individuals with SCT may be unaware of their condition and potential reproductive and health implications. Screening and reporting procedures should be examined to ensure individuals have access to and control of this vital health information.

Toward understanding family-related characteristics of young adults with sickle-cell disease or sickle-cell trait in the USA.

AIMS AND OBJECTIVES: To describe the family-related characteristics of young adults with sickle-cell disease or sickle-cell trait prior to taking part in a randomised controlled trial on sickle-cell reproductive health education. BACKGROUND: There is a critical need for educational programmes that target the reproductive needs of young adults with sickle-cell disease or trait. However, little is known about the family-related characteristics (i.e., demographic attributes and reproductive health behaviours) in which these young adults live. DESIGN: A descriptive cross-sectional analysis. METHOD: At study enrolment, 234 young adults (mean age = 25·9 years, 65% female) completed the SCKnowIQ questionnaire. Descriptive statistics depict the demographic attributes and reproductive health behaviours of young adults with sickle-cell disease (n = 138) or trait (n = 96). For group comparisons, independent t tests or Fisher's tests were used, as appropriate. RESULTS: Young adults with sickle-cell trait had significantly higher education, income and health insurance than those with sickle-cell disease. Both groups believed that sickle-cell disease was a severe condition. A majority of young adults with sickle-cell disease (65%) had no children compared to 42% of those with sickle-cell trait. Most young adults (85% sickle-cell disease, 82% sickle-cell trait) were not planning a pregnancy in the next six months, and many used condoms, withdrawal or oral contraceptives. CONCLUSIONS: Socioeconomic disparities exist between young adults with sickle-cell disease and sickle-cell trait. Future research that advances education about how and when to communicate appropriate genetic risk information to partners and children especially for young adults with sickle-cell trait would be beneficial. RELEVANCE TO CLINICAL PRACTICE: Awareness of the similarities and differences in the family-related characteristics among young adults with sickle-cell disease or trait can allow for more tailored reproductive education.

Sickle cell trait diagnosis: clinical and social implications.

The sickle hemoglobin (HbS) point mutation has independently undergone evolutionary selection at least five times in the world because of its overwhelming malarial protective effects in the heterozygous state. In 1949, homozygous Hb S or sickle cell disease (SCD) became the first inherited condition identified at the molecular level; however, since then, both SCD and heterozygous Hb S, sickle cell trait (SCT), have endured a long and complicated history. Hasty adoption of early mass screening programs for SCD, recent implementation of targeted screening mandates for SCT in athletics, and concerns about stigmatization have evoked considerable controversy regarding research and policy decisions for SCT. Although SCT is a largely protective condition in the context of malaria, clinical sequelae, such as exercise-related injury, renal complications, and venous thromboembolism can occur in affected carriers. The historical background of SCD and SCT has provided lessons about how research should be conducted in the modern era to minimize stigmatization, optimize study conclusions, and inform genetic counseling and policy decisions for SCT.

Evaluation of the SCKnowIQ tool and reproductive CHOICES intervention among young adults with sickle cell disease or sickle cell trait.

The study purpose was to evaluate a computer-based questionnaire (SCKnowIQ) and CHOICES educational intervention using cognitive interviewing with childbearing-aged people with sickle cell disease (SCD) or trait (SCT). Ten control group participants completed the SCKnowIQ twice. Ten intervention group participants completed the SCKnowIQ before and after the CHOICES intervention. Most participants found the questionnaire items appropriate and responded to items as the investigators intended. Participants' responses indicated that the information on SCD and SCT and reproductive options was understandable, balanced, important, and new to some. Internal consistency and test-retest reliability were adequate (.47 to .87) for 4 of the 6 scales, with significant within-group changes in knowledge scores for the intervention group but not for the control group. Findings show evidence for potential efficacy of the intervention, but proof of efficacy requires a larger randomized study.

Reproductive attitudes and behaviors in people with sickle cell disease or sickle cell trait: a qualitative interpretive meta-synthesis.

Sickle cell disease (SCD) is a serious and life threatening disorder. The literature on informed reproductive decisions among people with SCD is limited, suggesting that there is a lack of awareness about SCD and Sickle cell trait status (SCT) among high-risk populations. The purpose of this qualitative interpretive meta-synthesis (QIMS) is to examine the reproductive attitudes and behaviors in people with SCD or SCT to create effective genetic counseling programs to inform reproductive decision making. Three studies were included in the QIMS for a total sample of 79 participants. The majority of the sample was African American, ages 16 to 63. Other demographic characteristics of the study populations and data collection methods used in these studies varied. Seven themes on reproductive attitudes and behaviors among people with SCD or SCT emerged: lack of awareness or education about SCD and SCT; men who deny having SCT; attitudes toward learning one's SCT status; rationales for learning a partner's SCT status prior to commencing a relationship; valuing relationships over SCD risk; learning one's own and partner's SCT status; and the consequences of not asking about partners' SCT status. Implications for prevention programming involving improved education and awareness about the disease and reproduction are discussed.

Sickle cell, habitual dys-positions and fragile dispositions: young people with sickle cell at school.

The experiences of young people living with a sickle cell disorder in schools in England are reported through a thematic analysis of forty interviews, using Bourdieu's notions of field, capital and habitus. Young people with sickle cell are found to be habitually dys-positioned between the demands of the clinic for health maintenance through self-care and the field of the school, with its emphases on routines, consistent attendance and contextual demands for active and passive pupil behaviour. The tactics or dispositions that young people living with sickle cell can then employ, during strategy and struggle at school, are therefore fragile: they work only contingently, transiently or have the unintended consequences of displacing other valued social relations. The dispositions of the young people with sickle cell are framed by other social struggles: innovations in school procedures merely address aspects of sickle cell in isolation and are not consolidated into comprehensive policies; mothers inform, liaise, negotiate and advocate in support of a child with sickle cell but with limited success. Reactions of teachers and peers to sickle cell have the enduring potential to drain the somatic, cultural and social capital of young people living with sickle cell.

Reproductive decisions in people with sickle cell disease or sickle cell trait.

In the context of an inherited condition such as sickle cell disease (SCD), it is critical to understand how people with SCD or carriers (sickle cell trait [SCT]) face the challenges of making informed reproductive health decisions. The purpose of this analysis was to examine the beliefs, attitudes, and personal feelings of people with sickle cell disease or sickle cell trait related to making informed reproductive health decisions. Three focus groups were conducted with a total of 15 people who had either SCD or SCT. Five themes were identified: health-related issues in sickle cell disease, testing for sickle cell trait, partner choice, sharing sickle cell status with partners, and reproductive options. These findings enhance understanding of the reproductive experiences in people with SCD and SCT and provide the groundwork for developing an educational intervention focused on making informed decisions about becoming a parent.

Behavioral and emotional problems in children with sickle cell disease and healthy siblings: Multiple informants, multiple measures.

BACKGROUND: Behavioral and emotional problems in children with sickle cell disease (SCD) may be related to disease factors, or to socio-demographic factors. The aim of this study was to investigate the prevalence of behavioral and emotional problems in children with SCD living in a Western European country, compared to healthy siblings (who were comparable in age, gender, ethnicity, and socio-economic status-SES), and to a Dutch norm population. METHODS: The Child Behavior Checklist (CBCL), Teacher Report Form (TRF) and Disruptive Behavior Disorders rating scale (DBD) were distributed among caregivers and teachers of 119 children with SCD aged 6-18 years and among caregivers and teachers of 38 healthy siblings. RESULTS: Questionnaires were returned by caregivers and/or teachers of 106 children with SCD and 37 healthy siblings. According to caregivers and teachers, children with SCD had more severe internalizing problems than healthy siblings and the norm population. According to teachers, subgroups of both children with SCD and healthy siblings had more severe externalizing problems than the norm population. Children with SCD had more difficulties than healthy siblings in terms of school functioning, showed less competent social behavior and tended to have more attention deficits. CONCLUSIONS: Children with SCD are at increased risk of developing internalizing problems as a result of their disease. Subgroups of children with SCD are at increased risk of developing severe externalizing problems, which may either be related to socio-demographic factors, or to disease factors, such as neurocognitive deficits associated with cerebral infarction.

Limitación cognitiva en niños con anemia drepanocítica sin historia de afectación neurológica / Cognitive limitation present in children with drepanocytemia without a neurologic affection history

En los últimos años se comunican dificultades cognitivas en niños con anemia drepanocítica (AD) sin afectación neurológica evidente y se insiste en la necesidad de atención especializada. Se estudiaron 29 pacientes sin ningún elemento recogido en sus historias clínicas que evidenciara afectación del SNC. Se aplicó la escala de inteligencia de Wechsler y se comparó con niños sanos. Se obtuvo información de sus maestros sobre el rendimiento en las asignaturas de Matemática y Español, interés mostrado en clases y disciplina. Se observó disminución en los cocientes de inteligencia (CI) de la escala total (p= 0,014) y de la escala ejecutiva (p= 0,008) y también en las subescalas semejanzas (p= 0,048), ordenar figuras (p= 0,017) y dise±o de bloques (p= 0,001). Los maestros consideraron el rendimiento en Matemática (40 por ciento) y Español (36 por ciento) menor que en los demás alumnos. El déficit neurocognitivo esta presente en niños con AD sin historia previa de afectación del SNC, por lo que esta área debe evaluarse periódicamente como parte de su atención integral(AU)

In past years cognitive difficulties are reported in children with drepanocytemia (SCA) without evident neurologic affection, and we emphasized the need of a specialized care. A total of 29 patients were studied without any element evidencing affection of central nervous system (CNS) in registered in their medical records. We applied the Wechsler intelligence scale compared to health children. We get information from their teachers on performance in subjects like Mathematics and Spanish, interest and discipline during the classes. We note a decrease in intelligence quotient (IC) from the total scale (p= 0,014), and from rendition scale (p= 0,008), and also in similarity scales (p= 0,048), to figures array (p= 0,017), and block design (p= 0,001). Professors considered that Mathematics and Spanish performance (40 percent and 36 percent, respectively) lower than in the other pupils. Neurocognitive deficit is present in children with SCA without a prior history of CNS affection, thus, this area must to be periodically assessed as part of its integral care(AU)

Thalassemia and learning: Neurocognitive functioning in children.

As more effective management and even cure of thalassemia become possible, attention is beginning to be directed to the potential neurologic and resulting neurocognitive effects of this illness on adults and children. Recent studies indicate that for adults with beta-thalassemia major and intermedia, and for children with sickle beta-thalassemia (Sbeta-thalassemia), there is a substantial risk for silent brain infarcts that may be associated with neurocognitive impairment similar to that reported for children with sickle cell anemia. Here the available literature in this area is reviewed and the limited outcomes are compared with those available from large, multicenter longitudinal studies of sickle cell anemia. On the basis of these comparisons, it is recommend that children with thalassemia be screened for specific neuropsychological impairments and that they be provided early intervention and special education access as available under the Individuals with Disabilities Education Act (IDEA) or the 504 Regulations of the Rehabilitation Act of 1973.

Quality of life in children with sickle cell hemoglobinopathy.

OBJECTIVE: To identify specific domains and traits that are most affected in patients with sickle cell anemia and traits with respect to normal children. METHODS: Children attending the regional hemoglobinopathy center at IGMC, Nagpur in age group of 8-14 years were assessed. Of 52 children studied, 25 had sickle cell anemia (SCA), 12 had sickle cell trait (SCT) and 15 wre normal control. The (quality of life (QOL) was assessed using multidimensional interview based questionnaire. RESULTS: All domains, physical, psychosocial, cognitive and morbidity were affected. In SCA playing and mobility were most affected. There was feeling of sadness or disinterest and lack of support from teachers. The school attendance, vocational achievement perception, entertainment and participation in cultural activities were also affected. The intensity of weakness and pain was greater in SCA children who left that they were affected by a major illness. The unusual finding was that the SCT children also showed affection of all domains as compared to normal children, which was perhaps due to the stigma of the disease. CONCLUSION: QOL is affected in children with sickle cell disease (SCD) and to a lesser extent in SCT. Interventions to improve QOL should target the affected items. Improving awareness of the disease and its manifestation will help to alleviate the psychosocial affliction of children with SCT.

Pain, mood and opioid medication use in sickle cell disease.

Patients with sickle cell disease show wide variations in their experience of pain, and in the impact of pain on everyday functioning. This study examined relations between pain, mood, physical activity, and medication use in a longitudinal naturalistic self-monitoring study of 21 adult sickle cell patients over 12 months. Results suggest that opioid medication use is related to the impact of pain on daily life. Patients who use opioids more frequently for sickle cell pain show more disruption of their lives, with reduced activity levels and more pessimistic mood.

Social information processing and magnetic resonance imaging in children with sickle cell disease.

OBJECTIVE: To examine social information processing, social skills, and adjustment difficulties in children with sickle cell disease (SCD) as rated by caregivers, teachers, and the children themselves. Children were classified in two groups: cerebral vascular accidents (CVA) (n = 21) or without central nervous system (CNS) pathology (n = 20) on magnetic resonance imaging (MRI). Both groups had HbSS SCD. We compared these two groups and a third group of 11 children who had a milder type of SCD (HbSC). METHODS: Participants referred for evaluation of learning and behavior problems were administered MRIs to ascertain the presence of pathology and a series of measures designed to assess nonverbal emotional decoding abilities and ratings of social emotional functioning. RESULTS: Children with CVA displayed more errors on tasks of facial and vocal emotional decoding than did comparison controls without CVA. CONCLUSIONS: Acquired neurological impairments in children with SCD seemed to be associated with difficulties in the decoding of emotions of other children and adults. We recommend that future research integrate neuropsychological and psychosocial research programs for pediatric chronic illness groups.

Pain, quality of life, and coping in sickle cell disease.

This study examined the frequency and severity of sickle related pain, its impact on quality of life, and methods of coping for 25 children with sickle cell disease, aged 6-16 years. Subjects were matched with non-affected peers and asked to complete the Central Middlesex Hospital Children's Health Diary for four weeks. Results indicated that sickle pain occurred on average one in 14 days, and total summary pain scores indicated significantly greater pain than for controls. Children with sickle cell disease could discriminate sickle pain and did not adopt sick role responses to ordinary childhood ailments. Nearly all sickle pain was dealt with at home. Sickle pain resulted in over seven times increased risk of not attending school and was highly disruptive of social and recreational activities. Careful assessment of sickle pain in the home environment is an essential part of a community focused pain management service, which effectively supports children's resilience and improves their quality of life.

Screening for sickle-cell trait in the emergency department.

OBJECTIVE: To determine 1) whether young adult black patients in an emergency department (ED) are familiar with sickle-cell anemia and 2) how many of these patients know their own sickle-cell trait status. DESIGN: Black patients in an ED were interviewed. Women aged 18 to 40 years and men aged 18 to 50 were included. Sickle-cell screening was offered to the patients. SETTING: The ED of a large urban university hospital with an annual census of 50,000, approximately 25% of whom are black. PATIENTS: A convenience sample of 147 black patients presenting to the ED with minor medical conditions. INTERVENTIONS: The subjects were interviewed to determine their knowledge base regarding sickle-cell anemia and to determine how many knew their sickle-cell trait status. The subjects were tested for sickle-cell trait. MEASUREMENTS AND MAIN RESULTS: 98% of the patients had heard of sickle-cell anemia and 73% knew that it was a genetic disorder. Only 31% of the patients knew their sickle-cell status. Women were more likely than men to know their status. Approximately half of the patients who had family histories of the trait or the disease knew their own status. Two of the 47 patients (4%) tested had positive sickle-cell screen results. CONCLUSIONS: Most black patients of childbearing age presenting to the ED have heard of sickle-cell anemia and know that it runs in families, but few know their own trait status. Until access to primary care providers is improved, ED physicians who care for patients at risk for sickle-cell trait have an obligation to ask them about prior screening and either screen them or refer them for screening.

[Sickle cell disease and depression: preliminary study using the Hamilton rating scale for depression]. / Drépanocytose et dépression: étude preliminaire avec l'échelle de dépression de Hamilton.

Prolonged latency in the appearance of REM sleep as a marker of depression has been demonstrated in patients with the sickle-cell disease. To detect the possible existence of depressive disturbances in patients with sickle-cell disease, the Hamilton rating scale for depression (17 items) was used in 30 patients with homozygote sickle-cell disease and 31 carriers of the sickle-cell trait, treated or not with vasodilator drugs. None of the 61 subjects studied presented a score of 18 or more on the Hamilton rating scale, this being the threshold value for confirming the existence of moderate depression. However, analysis of variance showed an increase in mental dullness, agitation and somatization disorder. Dullness was related to the extent of anemia and the number of sickle-cell crises per year. Treatment had an effect on agitation in patients, with pentoxyfylline having a soothing effect unlike cinepazide maleate. Women complained of insomnia in the middle of the night and somatic anxiety and presented higher total scores than men. Men exhibited a higher degree of mental dullness. The findings of this preliminary study indicate that while not associated with frank depression, the sickle-cell gene has psychological repercussions on various depressive parameters and that these patients can benefit from treatment with pentoxyfylline.

Developmental screening in young children with sickle cell disease. Results of a cooperative study.

PURPOSE: The goal of the study was to assess development in young children with sickle cell disease as part of the Cooperative Study of Sickle Cell Disease (CSSCD). PATIENTS AND METHODS: The Denver Developmental Screening Test (DDST) was administered to children younger than 6 years at 12 participating institutions of the CSSCD. Trained examiners administered tests to 344 children. RESULTS: Tests were scored as normal in 90.4%, questionable in 6.4%, and abnormal in 1.5%; 1.7% of children were considered untestable. There was no relationship between DDST results and sickle cell genotype. Questionable and abnormal (Q/A) scores were more common in children ages 3-5 years than in younger children (12.6% versus 3.8%; P = 0.002). CONCLUSIONS: Because the DDST is a screening test, it should be interpreted cautiously. However, the more numerous Q/A scores in our "older" group agree with the findings of recent reports of neuropsychological impairment in school-age children with sickle cell disease. Our data suggest that development is relatively normal before age 3 years; deficits seen in older children may reflect subsequent ischemic insults.