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We compare the impact of SARS-CoV-2 variants on healthcare utilization and clinical presentation in paediatric patients with sickle cell disease (SCD). One hundred and ninety-one unique patients with SCD and positive SARS-CoV-2 polymerase chain reactions were identified between March 2020 and January 2022. Hospitalizations, which accounted for 42% (N = 81) of cases, were highest during the Delta dominant era (48%) and lowest during Omicron (36%) (p = 0.285). The most common SCD-related complication was vaso-occlusive pain (37%, N = 71), which accounted for 51% of all hospital admissions (N = 41), and acute chest was highest in the Alpha variant era (N = 15). Overall, COVID-19 remained mild in clinical severity within most paediatric SCD patients., (© 2023 British Society for Haematology and John Wiley & Sons Ltd.)

Introduction: Patients with sickle cell disease (SCD) need frequent health maintenance visits and may face barriers accessing care. Telemedicine, during COVID pandemic, has provided a unique model of care to improve access; however, potential barriers and satisfaction with its use in SCD have not been fully evaluated., Objective: To determine caregiver, patient, and healthcare provider (HCP) perspectives and satisfaction with telemedicine in healthcare delivery., Methods: We surveyed patients with SCD, caregivers, and HCP, who participated in at least one telemedicine visit from March 2020 to June 2021, using the Telemedicine Usability Questionnaire (TUQ). We also accessed and compared the Press Ganey surveys completed by families who completed a telemedicine or in-person visit. Data were summarized using descriptive statistics. The internal reliability of TUQ was assessed using Cronbach's coefficient alpha. Press Ganey data comparing satisfaction with telemedicine versus in-person visits were analyzed by Mann-Whiney U test., Results: Fifty-two patients/caregivers and 10 HCP completed the survey. Patients/caregivers rated satisfaction "excellent" in the five areas (Usefulness, Ease of use, Effectiveness, Reliability and Satisfaction). HCP rated Usefulness, Ease of use, Effectiveness, Satisfaction as "good," and Reliability as "excellent." Press Ganey scores for satisfaction with care for telemedicine and in-person visits were not statistically different (p > .05)., Discussion: We found high satisfaction for caregivers and patients as well as HCP in the delivery of clinical services via telemedicine for SCD. We suggest that telemedicine is a viable option for this population and may help overcome the barriers SCD families often face accessing care., (© 2022 Wiley Periodicals LLC.)

Background: COVID-19 was declared a global pandemic in March 2020. Early reports were primarily in adults, and sickle cell disease (SCD) was classified as a risk factor for severe COVID-19 disease. However, there are a limited number of primarily multi-center studies reporting on the clinical course of pediatric patients with SCD and COVID-19., Methods: We conducted an observational study of all patients with SCD diagnosed with COVID-19 at our institution between March 31, 2020, and February 12, 2021. Demographic and clinical characteristics of this group were collected by retrospective chart review., Results: A total of 55 patients were studied, including 38 children and 17 adolescents. Demographics, acute COVID-19 clinical presentation, respiratory support, laboratory findings, healthcare utilization, and SCD modifying therapies were comparable between the children and adolescents. Seventy-three percent ( N = 40) of all patients required emergency department care or hospitalization. While 47% ( N = 26) were hospitalized, only 5% ( N = 3) of all patients required intensive care unit admission. Patients frequently had concurrent vaso-occlusive pain crisis (VOC) ( N = 17, 43%) and acute chest syndrome (ACS) ( N = 14, 35%). Those with ACS or an oxygen requirement had significantly higher white blood cell count, lower nadir hemoglobin, and higher D-dimers, supporting a pro-inflammatory and coagulopathic picture. Non-hospitalized patients were more likely to be on hydroxyurea than hospitalized patients (79 vs. 50%, p = 0.023)., Conclusion: Children and adolescent patients with SCD and acute COVID-19 often present with ACS and VOC pain requiring hospital-level care. Hydroxyurea treatment appears to be protective. We observed no mortality despite variable morbidity., Competing Interests: AC: consultancy and research: Global Blood Therapeutics, Novartis Pharmaceuticals, Forma Pharmaceuticals, and Agios Pharmaceuticals. DD: consultancy: Novartis, Global Blood Therapeutics and Hilton Publishing Inc.; research: Novartis. BS-B: consultancy: Novartis and Chiesi. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Martin, Darbari, Margulies, Nickel, Leonard, Speller-Brown, Martin, Barber, Webb, Majumdar, Sharron and Campbell.)

Aims: The purpose of this secondary analysis was to describe the impact of using genograms to identify family caregivers from an original research study which used family caregiver-adolescents/young adults (AYA) dyads., Background: Research to improve transition preparation for AYA with chronic disease is essential as 90% will survive into adulthood. Family-based transition research is specifically needed as a majority of transition preparation will occur in the home setting. Dyadic research on transition has not previously described strategies for recruiting appropriate family caregivers., Design: A descriptive, secondary analysis was conducted using genograms developed during the original study conducted between October 2019 and February 2020., Methods: For this secondary analysis conducted between July 2020 and August 2021, 50 genograms were analysed using descriptive statistics to describe family structures, relationships and responsibilities in families of AYAs living with sickle cell disease., Results: In 43 genograms, there was only one primary caregiver in the family. In seven genograms, there were multiple primary caregivers who met the inclusion criteria for primary caregiver in a single family. In five genograms, there were two appropriate primary caregivers in a single family, and in two genograms, there were three appropriate individuals in a single family who met study criteria as a primary caregiver., Conclusions: Findings from the analysis of the genograms used in the original study demonstrated potential ability to improve on dyad recruitment by more specifically identifying the family member most involved in supporting the AYA's disease management., Impact: Genograms are an established tool for gathering information on families and application with recruitment could improve research in the realm of transition and other family-based research., No Patient or Public Contribution: This was a secondary analysis that assessed already existing data., (© 2023 John Wiley & Sons Ltd.)

Knowledge related to reproductive health in adolescents with sickle cell disease (SCD) is not fully addressed. We evaluated reproductive health and knowledge among adolescent girls with SCD. Seventy-nine adolescents, 13-21 years of age completed a survey on reproductive health and knowledge with menarche age 13.2 (± 1.7) years. Fifty-four percent reported dysmenorrhea and 49% reported SCD pain a week before menstrual cycle. Sixty-two percent reported discussing contraception and pregnancy with medical providers. Adolescents reported late menarche, dysmenorrhea, and pain with menses. Knowledge of overall reproductive health was inadequate. There is an urgent need to improve reproductive education in this population., Competing Interests: Conflict of interest: We do not have any conflicts of interest related to this manuscript.

Background: Transition to adult healthcare is a critical time for adolescents and young adults (AYAs) with sickle cell disease, and preparation for transition is important to reducing morbidity and mortality risks associated with transition., Objective: We explored the relationships between decision-making involvement, self-efficacy, healthcare responsibility, and overall transition readiness in AYAs with sickle cell disease prior to transition., Methods: This cross-sectional, correlational study was conducted with 50 family caregivers-AYAs dyads receiving care from a large comprehensive sickle cell clinic between October 2019 and February 2020. Participants completed the Decision-Making Involvement Scale, the Sickle Cell Self-Efficacy Scale, and the Readiness to Transition Questionnaire. Multiple linear regression was used to assess the relationships between decision-making involvement, self-efficacy, healthcare responsibility, and overall transition readiness in AYAs with sickle cell disease prior to transition to adult healthcare., Results: Whereas higher levels of expressive behaviors, such as sharing opinions and ideas in decision-making, were associated with higher levels of AYA healthcare responsibility, those behaviors were inversely associated with feelings of overall transition readiness. Self-efficacy was positively associated with overall transition readiness but inversely related to AYA healthcare responsibility. Parent involvement was negatively associated with AYA healthcare responsibility and overall transition readiness., Discussion: While increasing AYAs' decision-making involvement may improve AYAs' healthcare responsibility, it may not reduce barriers of feeling unprepared for the transition to adult healthcare. Facilitating active AYA involvement in decision-making regarding disease management, increasing self-efficacy, and safely reducing parent involvement may positively influence their confidence and capacity for self-management., Competing Interests: The authors have no conflicts of interest to report., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Hematopoietic stem cell transplantation (HSCT) can be curative for sickle cell disease (SCD). SCD patients with cerebrovascular disease are often referred for HSCT. The objective of this study was to describe neurologic outcomes after HSCT in patients with pre-existing SCD and cerebrovascular comorbidity. Patients with SCD treated with HSCT at a single center between 1996 and 2019 were identified. Patients with cerebral ischemia and/or vasculopathy before undergoing HSCT were included. Patients with graft failure were excluded. The cohort was divided into 3 groups: symptomatic stroke, vasculopathy without symptomatic stroke, and isolated silent cerebral infarction (SCI). Magnetic resonance imaging/angiography and neurologic assessments pre- and post-HSCT were analyzed to assess outcomes. In a cohort of 44 patients, there were 25 with symptomatic infarction, 10 with vasculopathy, and 9 with isolated SCI. Post-HSCT ischemic injury (2 symptomatic strokes, 2 SCIs) was identified in 4 patients, all with previous symptomatic infarction. Within this group (n = 25), the post-HSCT incidence of subsequent symptomatic infarction was 1.6 events/100 patient-years, and SCIs occurred at a rate of 2.2 events/100 patient-years. No patient had progression of vasculopathy post-HSCT. Our data show a low incidence of new ischemic injury after successful HSCT for SCD. Patients with a history of both symptomatic stroke and vasculopathy are at greatest risk for post-HSCT ischemic injury., (Copyright © 2021 The American Society for Transplantation and Cellular Therapy. Published by Elsevier Inc. All rights reserved.)

Problem: Improvements in chronic disease management has led to increasing numbers of youth transitioning to adult healthcare. Poor transition can lead to high risks of morbidity and mortality. Understanding adolescents and young adults (AYA) perspectives on transition is essential to developing effective transition preparation. The aim of this metasynthesis was to synthesize qualitative studies assessing the experiences and expectations of transition to adult healthcare settings in AYAs with chronic diseases to update work completed in a prior metasynthesis by Fegran, Hall, Uhrenfeldt, Aagaard, and Ludvigsen (2014)., Eligibility Criteria: A search of PubMed, Medline, PsycINFO, and CINAHL was conducted to gather articles published after February 2011 through June 2019., Sample: Of 889 articles screened, a total of 33 articles were included in the final analysis., Results: Seven main themes were found: developing transition readiness, conceiving expectations based upon pediatric healthcare, transitioning leads to an evolving parent role, transitioning leads to an evolving youth role, identifying barriers, lacking transition readiness, and recommendations for improvements., Conclusions: Findings of this metasynthesis reaffirmed previous findings. AYAs continue to report deficiencies in meeting the Got Transition® Six Core Elements. The findings highlighted the need to create AYA-centered transition preparation which incorporate support for parents., Implications: Improvements in transition preparation interventions need to address deficiencies in meeting the Got Transition® Six Core Elements. More research is needed to identify and address barriers implementing the transition process., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: Sickle cell disease (SCD) is increasingly recognized as a red blood cell disorder modulated by abnormally increased inflammation. We have previously shown that in patients with SCD not on a disease-modifying therapy (hydroxyurea or chronic transfusions), natural killer (NK) cell numbers are increased. In the current study, we further investigated the NK cell function to determine if there was evidence of increased activation and cytotoxicity., Procedure: We conducted a cross-sectional study of 44 patients with HbSS/HbSβ 0 thalassemia at steady state (hydroxyurea = 13, chronic transfusion = 11, no disease-modifying therapy = 20) and 23 healthy controls. Using a fresh blood sample, NK immunophenotyping was performed as follows: NK cells (CD3 - CD56 + lymphocytes) were evaluated for makers associated with activation (NKG2D, NKp30, NKp44, and CD69) and maturity (CD57, killer immunoglobulin-like receptors (KIR), and CD56dim). Degranulation and cytotoxicity assays were performed to evaluate NK cell function., Results: Patients with SCD who were not on disease-modifying therapy had a higher number of NK cells with an immunophenotype associated with increased cytotoxicity (NKG2D + , NKp30 + , CD56dim + , and KIR + NK cells) compared with healthy controls and patients on hydroxyurea. NK cells from SCD patients not on disease-modifying therapy demonstrated significantly increased cytotoxicity (measured by assaying NK cell killing of the K562 cell line) compared with healthy controls (P = 0.005). Notably, NK cell cytotoxicity against K562 cells in the hydroxyurea or chronic transfusion patients was not significantly different from that in healthy controls., Conclusion: SCD is associated with increased NK cell function as well as increased NK cell numbers, which appears to be normalized with disease-modifying therapy., (© 2019 Wiley Periodicals, Inc.)

Introduction: Transition of medical care from pediatrics to adult can be challenging and difficult. Until the 1970s, only half of patients diagnosed with sickle cell disease (SCD) reached adulthood. As a result of patients living longer, there is a growing need to understand factors that influence readiness to transition. This descriptive study examined age-specific SCD knowledge, self-management skills of patients, and education goals in a convenience sample of patients and their parents., Method: One hundred eighty-three transition surveys were distributed during scheduled hematology clinic visits. Surveys were analyzed with descriptive statistics to determine differences of knowledge between age groups, self-care skills, vocational supports, and educational goals. The parent group consists of children aged 0 to 4 years (32), 5 to 8 years (52), 9 to 11 years (12); the child group consists of children aged 9 to 11 years (24) and 12 to 15 years (31); and adolescent and young adult (AYA) group consists of children aged 16 to 21 years (32)., Results: Indeed, 50% of parents of the 0 to 4 years age group and 33% of 5 to 8 years age group knew their child's baseline hemoglobin. Only 38% of patients aged 16 to 21 years knew their baseline hemoglobin. However, 79% of patients aged 9 to 11 years, 74% of patient aged 12 to 15 years, and 78% of AYAs could name their hematology provider. Only 66% of patients aged 16 to 21 years knew what symptoms required medical attention., Discussion: Most patients and parents had adequate basic knowledge regarding SCD. AYAs lack the disease knowledge necessary to transition care away from parents to become more independent. An assessment for transition readiness should be ongoing to include disease-specific knowledge and self-management skills.

Pre-implantation genetic diagnosis (PGD) is an option for parents who have a child with sickle cell disease (SCD) to have another child without SCD. We conducted a survey of 19 parents with at least one child with SCD to investigate views on PGD. Before education, 44% of parents were aware of PGD. All parents rated PGD education as important. All parents considering another child also reported interest in using PGD if insurance covered its costs. Parents who have a child with SCD appear to be interested in PGD and educational tools informing this group about PGD should be developed., (© 2018 Wiley Periodicals, Inc.)

Adolescents and young adults (AYAs) often transfer from pediatric to adult care without adequate preparation, resulting in increased morbidity and mortality. The purpose of this descriptive research study of parent/AYA dyads was to measure perceptions of transition readiness. Factors that were found to be associated with perceptions of increased readiness to transition included AYA age, the amount of responsibility AYAs assume for their healthcare and the degree of parent involvement. More attention should be focused on these aspects of care to improve transition from pediatric to adult care for AYAs with sickle cell disease., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Background: Intracranial aneurysms (IAs) are rare in the general pediatric population and account for <2% of all cerebral aneurysms. Only 7 children with sickle hemoglobinopathy and IAs have been reported, the majority of which were discovered after rupture., Objective: To report the prevalence of unruptured IAs in a selected population of children with sickle cell disease (SCD) and to describe the aneurysm morphology, hematologic characteristics, and management in this patient population., Methods: A retrospective review of the electronic database for all children with SCD who underwent brain magnetic resonance imaging or angiography from January 2002 to August 2013 at a single institution was performed. Records were reviewed for IA, age, sex, sickle cell genotype, neurological symptoms, hematologic indexes, transcranial Doppler findings, and management., Results: Five of 179 children (2.8%) with SCD imaged by brain magnetic resonance imaging or angiography were diagnosed with IAs. None presented with subarachnoid hemorrhage. Four patients (80%) had HbSS disease, and 1 patient had hemoglobin sickle cell HbSC disease. A total of 18 aneurysms were detected; the majority of patients had multiple aneurysms (80%) and bilateral involvement (60%)., Conclusion: Children with SCD are at risk for developing multiple intracranial aneurysms, and a high index of suspicion must be maintained during the interpretation of routine magnetic resonance imaging or angiography of the brain.

Children with sickle cell disease (SCD) have high risk of neurologic morbidity and mortality, such as strokes, silent infarcts and TIA's. A retrospective review of magnetic resonance imaging and magnetic resonance angiography identified eight children with radiological and clinical characteristics of reversible posterior encephalopathy (RPLS). These patients had no evidence of previous cerebral infarcts or vasculopathy. Three have died during the 5-year follow up; one developed a stroke and one a conditional TCD. RPLS needs to be considered in the differential diagnosis of children with SCD that present with acute neurological changes, especially if they are already been hospitalized.

Introduction: Hydroxyurea (HU) improves hematologic parameters and decreases adverse events in patients with sickle cell disease (SCD). HU has been proposed as an alternative to chronic transfusions for secondary stroke prevention. Transcranial doppler (TCD) is an accepted method of stroke risk stratification in patients with SCD. We sought to determine if HU affects TCD velocities in children with SCD., Methods: A cohort of 24 children with HbSS with a baseline TCDi prior to HU and a follow-up after at least 6 months of therapy was analyzed. Twenty-four age-matched children with HbSS formed the control group. Differences in hematologic parameters before and after HU therapy were evaluated., Results: TCDi velocities decreased in the HU-treated patients. The adjusted mean change in TCDi velocities was -13.0 cm/sec (95% CI -20.19, -5.92) in the HU-treated group and +4.72 cm/sec (95% CI -3.24, 12.69) in the controls. Changes in TCDi between the two groups were statistically significant (P < 0.001). Changes in hematologic parameters were not predictive of changes in TCDi velocities in the treated patients. Four out of five patients with TCDi velocities >170 cm/sec had normalization of TCDi velocities on HU. Mean change was -34.75 cm/sec in this subgroup. No patients experienced cerebrovascular accidents (CVA) while on HU., Conclusions: HU-treated patients experienced statistically significant decreases in TCDi velocities compared to age-matched controls. Changes in hematologic parameters were not predictive of changes in TCDi velocities in the treated group. The decrease in TCDi velocities is not a consequence of changes in hematologic values in patients treated with HU.