H3Africa is developing capacity for health-related genomics research in Africa

BackgroundProviders and patients have called for improved understanding of the health care requirements of adults with sickle cell disease (SCD) and have identified the need for a systematic, reliable and valid method to document the patient-reported outcomes (PRO) of adult SCD care. To address this need, the Adult Sickle Cell Quality of Life Measurement System (ASCQ-Me) was designed to complement the Patient Reported Outcome Measurement Information System (PROMIS®). Here we describe methods and results of the psychometric evaluation of ASCQ-Me item banks (IBs).MethodsAt seven geographically-disbursed clinics within the US, 556 patients responded to questions generated to assess cognitive, emotional, physical and social impacts of SCD. We evaluated the construct validity of the hypothesized domains using exploratory factor analysis (EFA), parallel analysis (PA), and bi-factor analysis (Item Response Theory Graded Response Model, IRT-GRM). We used IRT-GRM and the Wald method to identify bias in responses across gender and age. We used IRT and Cronbach’s alpha coefficient to evaluate the reliability of the IBs and then tested the ability of summary scores based on IRT calibrations to discriminate among tertiles of respondents defined by SCD severity.ResultsOf the original 140 questions tested, we eliminated 48 that either did not form clean factors or provided biased measurement across subgroups defined by age and gender. Via EFA and PA, we identified three subfactors within physical impact: sleep, pain and stiffness impacts. Analysis of the resulting six item sets (sleep, pain, stiffness, cognitive, emotional and social impacts of SCD) supported their essential unidimensionality. With the exception of the cognitive impact IB, these item sets also were highly reliable across a broad range of values and highly significantly related to SCD disease severity.ConclusionASCQ-Me pain, sleep, stiffness, emotional and social SCD impact IBs demonstrated exceptional measurement properties using modern and classical psychometric methods of evaluation. Further development of the cognitive impact IB is required to improve its sensitivity to differences in SCD disease severity. Future research will evaluate the sensitivity of the ASCQ-Me IBs to change in SCD disease severity over time due to health interventions.

Transition of young adults with sickle cell disease (SCD) from pediatric to adult medical care is an important priority, given medical advances that have transformed SCD into a lifelong chronic condition, rather than a disease of childhood. Successful transfer from pediatric to adult care has its foundation in collaboration among the young adult, the family, and the health care system to support building skills in positive disease management and independent living. Systemic issues in transition from pediatric to adult care for individuals with SCD include limited access to adult providers with the skills and/or interest in caring for people with SCD; poor communication and follow-up between pediatric and adult providers; and insurance coverage and reimbursement for care coordination. Family and patient issues in transition include lack of skill development for successful transition into adulthood; absence of financial independence; fear of the unknown; and increasing morbidity with age. The design and evaluation of successful transition programming in SCD requires clarity in conceptual frameworks and consistent measurement, both before and after transfer to adult care. Strategies used by three SCD transition programs and future directions for research and program development are presented.

The objectives of this study were to describe and compare the characteristics of pain experienced by children and young adults with sickle cell disease (SCD) in inpatient and outpatient settings. The Adolescent Pediatric Pain Tool (APPT), a multidimensional self-report pain assessment, was completed by African American children and young adults (mean age 15.39 +/- 4.32) with SCD during a clinic visit (n = 52), day hospital visit (n = 29), or during the first 24 hours of an inpatient stay (n = 72). Multiple linear regression revealed that pain intensity, number of body areas with pain, and the quality of pain were related to age, sex, and care setting. Pain intensity, location, and quality were of greater magnitude than previous reports of early postoperative pain in children. Examining the specific dimensions of pain intensity, location, and quality and the influencing factors of age, sex, and care setting may lead to more effective treatments for SCD pain.

Improved pain assessment and management practices with resultant increase in patient and staff satisfaction can be achieved and sustained over time using quality improvement strategies.

BackgroundSickle Cell Disease (SCD) causes profound suffering and decrements in daily functioning. Demand is growing for valid and reliable measures to systematically document these effects, particularly in adults. The Adult Sickle Cell Quality of Life Measurement System, ASCQ-Me℠, was developed for this purpose. ASCQ-Me℠ is one of four measurement systems housed within the Person–Centered Assessment Resource (PCAR), funded by the National Institutes of Health, to support clinical research. To help users select the best of these measures for adults with SCD, we evaluated and compared two PCAR systems: one designed to be “universally applicable” (the Patient-Reported Outcome Measurement Information System, PROMIS®) and one designed specifically for SCD (ASCQ-Me℠).MethodsRespondents to PROMIS and ASCQ-Me questions were 490 adults with SCD from seven geographically-disbursed clinics within the US. Data were collected for six ASCQ-Me measures (Emotional Impact, Sleep Impact, Social Impact, Stiffness Impact, Pain Impact, SCD Pain Episode Frequency and Severity) and ten PROMIS measures (Pain Impact, Pain Behavior, Physical Functioning, Anxiety, Depression, Fatigue, Satisfaction with Discretionary Social Activities, Satisfaction with Social Roles, Sleep Disturbance, and Sleep-Related Impairment). Statistical analyses, including analysis of variance and multiple linear regression, were conducted to determine the sensitivity of measures to SCD severity. SCD severity was assessed via a checklist of associated treatments and conditions.ResultsFor those with the most severe SCD, PROMIS scores showed worse health compared to the general population for nine of ten health domains: the magnitude of the difference ranged 0.5 to 1.1 standard deviation units. The PROMIS domains most severely affected were Physical Functioning and Pain (Impact and Behavior). Significant differences by tertile of the SCD-MHC were shown for most PROMIS short forms and all ASCQ-Me short and fixed forms. In most models, ASCQ-Me measures explained statistically significant unique variance in SCD-MHC scores complementary to that explained by corresponding PROMIS measures.ConclusionsStudy results supported the validity of both PROMIS and ASCQ-Me measures for use in adults with SCD. Compared to comparable PROMIS scores, most ASCQ-Me scores were better predictors of SCD disease severity, as measured by a medical history checklist. The clinical implications of these results require further investigation.

Sickle cell disease (SCD) is a major healthcare and societal problem that affects millions of people worldwide. In Nigeria, 45,000 to 90,000 babies are born each year with SCD. In the United States, SCD is the most common genetic disorder, affecting more than 80,000 people, the majority of whom are African American. Sickle cell pain is the hallmark feature of SCD. Most of the research on pain from SCD has focused on children with acute pain associated with sickle cell crisis. Consequently, very little is known about the occurrence and characteristics of chronic pain, especially in adults with SCD. Individuals with SCD who experience chronic pain are often underserved and their pain is under-treated. This under-treatment may result in millions of dollars per year spent on emergency room visits, hospitalizations, and lost work productivity. The primary purpose of this literature review was to summarize the findings from studies that evaluated the characteristics of chronic pain in adults with SCD. Each of the studies included in this review was evaluated to determine if it provided data on the following multidimensional characteristics of chronic pain: occurrence, number of pain episodes, duration, pattern, quality, location, intensity, aggravating factors, relieving factors, and impact of pain on function. A secondary purpose was to identify gaps in knowledge and directions for future research on the multiple dimensions of chronic pain in adults with SCD.

The impact of thalassemia major and thalassemia intermedia and their associated complications on quality of life (QOL) is largely unknown. Determining the degree of health impairment as perceived by the patient is essential information needed to recommend suitable therapy. The objective of this study was to evaluate QOL in transfusion-independent patients with thalassemia (non-Tx) compared with that in transfused patients (Tx) and to identify the factors that affect QOL in thalassemia. A convenient sample of 48 thalassemia patients (29 Tx and 19 non-Tx) with mean age of 14.6 years (SD = 7.5 years) were selected during a comprehensive visit to complete a Dartmouth Primary Care Cooperative Information Chart System (COOP) questionnaire. Patients rated QOL from excellent (1) to poor (5) on five dimensions of health status. Scores of 4 or 5 represent major limitations. These results were augmented by a brief medical history and chart review. Forty-one percent of Tx patients and 47% of non-Tx patients reported severe impairments in 1-6 and 1-2 domains, respectively. The most commonly reported affected domains were feelings such as anxiety, depression, and concern of overall health status or indications of recent deterioration in health. In contrast with previous beliefs, transfusion-independent thalassemia patients also suffer serious impairment in QOL. Presented data suggest that all patients with thalassemia undergo QOL assessment so that interventions focused on affected domains can be implemented.