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Keith Wailoo, Professor of history and public affairs at Princeton University’s Woodrow Wilson School of Public and International Affairs is interviewed by Stephen Morrissey, Managing Editor at New England Journal of Medicine on Sickle cell disease. Professer Wailoo has written a perspective article about the advances in understanding and treating sickle cell disease and about the challenges that remain. The history of sickle cell disease has been marked by controversies over therapy prevention and funding. Despite recent developments in treating pain crisis and gene therapy, many patients still struggle to have their symptoms recognized and adequately addressed. Professor Wailoo says, “For most of the 20th century, sickle cell disease was an invisible disease. Precisely, because it was so hard to clinically recognize, clinical recognition being crucial to actually addressing it. After all, here is a disease that caused early infant mortality in a time period when infant mortality and infectious disease mortality prevailed.” Related story

In recent years, genetics has become a hot topic in popular culture, frequently making news headlines and serving as a key theme in movies and TV shows—and for good reason: our genes are what make us unique. Genes not only help to shape our tastes and preferences, but they also can influence our health. In some cases, our genes play silent roles within our bodies. In others, genes take on a more prominent role, even determining our likelihood of having specific diseases. This brings me to sickle cell disease (SCD), a topic I am passionate about and have discussed in previous articles. In this article, I’d like to focus on the often under-recognized fact that SCD is a genetic disease and is inherited from the passing of the sickle cell gene from parent to child.   Abstract source

Background: Increasing knowledge and understanding of disease is known to improve outcomes in persons living with a chronic illness. In this paper, we aim to compare the disease knowledge of children with sickle cell disease (SCD), age 6-10 years, who received an intervention (an educational colouring book on SCD) geared towards improving disease knowledge, to those who did not received the colouring book. Methods: A quasi-experimental study was conducted where disease knowledge was determined in 56 children who had received the colouring book and compared to 60 children who did not receive this intervention. Results: The mean knowledge score was significantly higher in the intervention group (mean difference = 2.65; 95% CI [1.43, 3.86]), as well as in older children and in those in higher grades but there was no difference between sexes. In a multiple regression model (adjusted R2 : 0.39; p value < .001), knowledge score was significantly higher in those who received the intervention (β: 2.62; 95% CI [1.48, 3.76]) while adjusting for age, gender, persons living at home, and the father's employment status. Conclusion: The study highlights that a simple, inexpensive (cost: US$1/book) child-friendly intervention can significantly improve knowledge about SCD even in young children. It also underlines various social factors that are associated with children's understanding of their disease. Abstract source Full text

Objectives: Outpatient care is critical in the management of chronic diseases, including sickle cell disease (SCD). Risk factors for poor adherence with clinic appointments in SCD are poorly defined. This exploratory study evaluated associations between modifying variables from the Health Belief Model and missed appointments. Methods: We surveyed adults with SCD (n = 211) and caregivers of children with SCD (n = 331) between October 2014 and March 2016 in six centres across the U.S. The survey tool utilized the framework of the Health Belief Model, and included: social determinants, psychosocial variables, social support, health literacy and spirituality. Results: A majority of adults (87%) and caregivers of children (65%) reported they missed a clinic appointment. Children (as reported by caregivers) were less likely to miss appointments than adults (OR:0.22; 95% CI:(0.13,0.39)). In adults, financial insecurity (OR:4.49; 95% CI:(1.20, 20.7)), health literacy (OR:4.64; 95% CI:(1.33, 16.15)), and age (OR:0.95; 95% CI:(0.91,0.99)) were significantly associated with missed appointments. In all participants, lower spirituality was associated with missed appointments (OR:1.83; 95%CI:(1.13, 2.94)). The most common reason for missing an appointment was forgetfulness (adults: 31%, children: 26%). A majority thought reminders would help (adults: 83%, children: 71%) using phone calls (adults: 62%, children: 61%) or text messages (adults: 56%, children: 51%). Conclusions: Our findings demonstrate that modifying components of the Health Belief Model, including age, financial security, health literacy, spirituality, and lacking cues to action like reminders, are important in missed appointments and addressing these factors could improve appointment-keeping for adults and children with SCD. Abstract source Full text

Background: Adherence to illness self-management among youth with sickle cell disease (SCD) positively impacts health outcomes and decreases overall healthcare costs. Despite this, children with SCD face several barriers to adherence, with adherence rates that remain moderate to low. The current feasibility study examined the Intensive Training Program (ITP), a mobile health (mHealth) intervention for youth with SCD designed to promote disease knowledge, adherence, and patient-provider communication. Procedure: Youth with SCD prescribed hydroxyurea between ages 7-18 completed baseline disease knowledge and psychosocial assessments and then were provided with the ITP app. Youth participated in the 90-day ITP, during which they completed three education modules, tracked adherence through daily self-recorded videos on the app, and received video messages from providers. Participants completed poststudy knowledge, psychosocial, and feasibility questionnaires. Medication possession ratio (MPR) was obtained via pharmacy-refill rates. Results: Thirty-two youths (mean age = 13.0 years) participated, with an average adherence tracking rate of 0.6 (standard deviation = 0.34). All participants demonstrated increased MPR (0.57-0.74, P < 0.001, d = 0.75) and disease knowledge (59.6-88.6%, P < 0.001). There was variable engagement in the ITP; completers demonstrated significantly better SCD-related functioning (P < 0.05), higher parent-reported treatment functioning (P < 0.05), and lower pain impact than noncompleters of the ITP (P < 0.05). Conclusions: Results support the ITP can feasibly be implemented to promote adherence among youth with SCD. All participants demonstrated increased adherence and disease knowledge. However, there was variable engagement and only intervention completers showed improvements in psychosocial outcomes. Further research is needed to evaluate long-term outcomes and ways to promote engagement in mHealth interventions among the youth. Abstract source Full text

Objectives: Children with sickle cell anemia (SCA) are commonly reported to experience executive dysfunction. However, the development of executive function (EF) in preschool-age children without stroke in this patient population has not been investigated so it is unclear when and how these deficits emerge. Methods: This case-control study examines the feasibility of assessing the early development of executive functioning in 22 preschool children years with SCA in the domains of processing speed, working memory, attention, inhibitory control, and cognitive flexibility, as well as everyday function, in comparison to matched control children. Results: A pattern of potential deficits in early emerging executive skills was observed in the domains of inhibitory control and cognitive flexibility. Parents reported no differences for everyday EF and no significant differences were observed for working memory and processing speed. Conclusions: Results suggest that deficits in everyday executive difficulties, working memory, and processing speed, as commonly reported for older children with SCA, may not yet have emerged at this early developmental stage, despite specific deficits in cognitive flexibility and inhibitory control on behavioral measures. The feasibility of using available executive measures with preschool age children to characterize the development of early EF skills is discussed. (JINS, 2018, 24, 949-954). Abstract source

Objectives: In adults with sickle cell disease (SCD), pain often necessitates opioid use. Few studies have examined the relationship between opioid use and health-related quality of life (HRQOL) in adults with SCD. We tested the hypothesis that higher doses of opioids are associated with worse HRQOL. Methods: A cross-sectional cohort study was performed in adults with SCD who completed standardized and validated HRQOL questionnaires: Patient Health Questionnaire-15 (PHQ-15), Patient Health Questionnaire-9 (PHQ-9), Medical Outcome Study 36 Item Short Form (SF-36), and Generalized Anxiety Disorder questionnaire (GAD-7). Daily outpatient opioid dose was converted into morphine milligram equivalents (MME) and categorized as < 90 mg/day or >= 90 mg/day. Subject's questionnaire scores were compared by opioid dose. Results: Ninety-nine adults completed questionnaires. The majority had HbSS and median age was 30 years. The median MME was 80 mg/day. When the association between HRQOL and opioid dose was compared, those prescribed >= 90 MME had significantly lower SF-36 subscale scores in 7 of 8 domains, and significantly higher severity scores in the PHQ-15, GAD-7, and the PHQ-9 in comparison those prescribed < 90 MME. Using a multivariable regression tree analysis, in addition to the presence of chronic pain, mental health, physical health, and somatic burden were key predictors of >= 90 MME opioid use. Conclusion: Higher daily opioid dose is associated with chronic pain. Among those with chronic pain, opioid dose >= 90 MME is associated with worse HRQOL. Abstract source Full text