Catherine R. Hoyt

Background: Sickle cell disease (SCD) is the most common monogenic disorder in humans and occurs predominantly among individuals who identify as Black or African American in the United States. In earlier work, we found that developmental delays were present in more than 50% of children with SCD before the age of 3 years, yet none had been diagnosed or referred to intervention services. Children whose caregivers participated in a home-based caregiver education program demonstrated improved scores on standardized developmental measures. When developmental delays go unidentified, children miss a critical opportunity for intervention during a period of rapid neurological change. Yet few, if any, studies have described the incidence and severity of developmental delays among children with SCD compared to controls. Objective: The purpose of this study is to determine the incidence and severity of developmental delays in children with SCD under 3 years of age (aim 1), test a 12-month home-based Sickle Cell Collaboration for Child Development (SCCCD) intervention (aim 2), and conduct a mixed methods study to identify contextual determinants to prepare for future scaling of the SCCCD intervention across health care systems (aim 3). Methods: Consistent with American Academy of Pediatrics guidelines, children with SCD will be evaluated at 9, 18, and 30 months using the Bayley Scales of Infant Development, Fourth Edition, to determine the incidence of developmental delay over the first 3 years of life compared to demographically matched peers (n=100, aim 1). The SCCCD intervention, adapted from a pilot study, combines skilled occupational therapy, the Parents as Teachers curriculum, and SCD-specific caregiver education, delivered over 12 monthly home visits (n=25, aim 2). Interviews with caregivers who participated in and those who declined the intervention will identify contextual determinants (ie, facilitators and barriers) to inform future testing and broader implementation of the SCCCD (aim 3). Results: This project has been approved by the Institutional Review Board at Washington University School of Medicine (202104034 and 202407080). As of May 31, 2026, a total of 50 participants (26 children with SCD and 24 typically developing children for the comparison cohort) have participated for aim 1. Aim 2 recruitment began in July 2025, and 5 caregiver/child dyads have participated so far. The study is expected to be completed by 2028. Conclusions: These findings will provide the first prospective characterization of developmental trajectories in children with SCD across the first 3 years of life and establish preliminary evidence for a disease-specific, home-based intervention to improve developmental outcomes in this underserved population. The results will directly inform a future randomized controlled trial of the SCCCD intervention.

Neurodevelopmental and neurocognitive difficulties are prevalent among individuals with sickle cell disease and warrant prompt identification and support. This Special Report provides an executive summary of standards and recommendations for surveillance, screening, and evaluation for development and cognition across the lifespan developed by expert consensus through the National Alliance of Sickle Cell Centers. The development process, definitions, and overarching principles of the standards and recommendations are provided, as well as an accompanying algorithm and supplemental material to aid in implementation.

BACKGROUND Sickle cell disease (SCD) is the most common monogenic disorder in humans and occurs predominantly among individuals who identify as Black or African American in the United States. In earlier work, we found that developmental delays were present in more than 50% of children with SCD before the age of three, yet none had been diagnosed or referred to intervention services. Children whose caregivers participated in a home-based caregiver education program demonstrated improved scores on standardized developmental measures. When developmental delays go unidentified, children miss a critical opportunity for intervention during a period of rapid neurological change. Yet few, if any, studies have described the incidence and severity of developmental delays among children with SCD compared to controls. OBJECTIVE The purpose of this study is to determine the incidence and severity of developmental delays in children with SCD under three years of age (Aim 1), test a 12-month home-based Sickle Cell Collaboration for Child Development (SCCCD) intervention (Aim 2), and conduct a mixed methods study to identify contextual determinants to prepare for future scaling of the SCCCD intervention across healthcare systems (Aim 3). METHODS Consistent with American Academy of Pediatrics guidelines, children with SCD will be evaluated at 9, 18, and 30 months using the Bayley Scales of Infant Development-4 (Bayley-4) to determine the incidence of developmental delay over the first 3 years of life compared to demographically matched peers (n=100, Aim 1). The SCCCD intervention, adapted from a pilot study, combines skilled occupational therapy, the Parents as Teachers® curriculum, and SCD-specific caregiver education, delivered over 12 monthly home visits (n=25, Aim 2). Interviews with caregivers who participated in and those who declined the intervention will identify contextual determinants (i.e., facilitators and barriers) to inform future testing and broader implementation of the SCCCD (Aim 3). RESULTS This project has been approved by the Institutional Review Board at Washington University School of Medicine (#202104034, 202407080). As of 5/21/26, a total of 50 participants (26 children with SCD, 24 typically developing children for the comparison cohort) have participated for Aim 1. Aim 2 recruitment began in July 2025 and five caregiver/child dyads have participated so far. The study is expected to be completed by 2028. CONCLUSIONS These findings will provide the first prospective characterization of developmental trajectories in children with SCD across the first three years of life and establish preliminary evidence for a disease-specific, home-based intervention to improve developmental outcomes in this underserved population. Results will directly inform a future randomized controlled trial of the SCCCD intervention.

Objective: SCD is an inherited red blood cell disorder that disproportionately affects Black and African American children in the United States. SCD is associated with developmental delays, most frequently in the cognitive and language domains. Early intervention (EI) services offer an opportunity to mitigate delays through developmental support and family education. EI services are underutilized among children with SCD because of several significant challenges, including limited awareness among pediatric providers, inadequate family-centered communication, and suboptimal screening protocols during routine well-child visits. Method: Using a qualitative approach, semi-structured interviews were completed with 11 caregivers of children with SCD who had been referred to and wanted EI services. Results: Caregiver interviews revealed 3 key themes: home-based services are convenient for families managing complex medical needs, caregivers observed meaningful improvements in child development through EI participation, and pediatric provider support with referral, rather than family self-referral, made connecting with EI easier. Conclusion: Caregivers described specialty providers as central to connecting their families with EI. Caregivers whose providers completed the referral reported that the process asked little of them. Families in this sample valued EI for their children with SCD. Systematic provider-facilitated referral is a caregiver-identified facilitator that warrants evaluation as a strategy to strengthen developmental surveillance and referral to EI services for children with SCD.

Lay Summary: Sickle cell disease (SCD) is a serious condition that affects children from birth, causing pain, anemia, and neurocognitive delays. Caring for a child with SCD can be stressful for families, especially when accessing specialized medical care is difficult. Previous research has shown mixed results about whether caregivers of children with SCD experience depression. This study screened for depression in 47 caregivers of very young children (0-5 years) with SCD using a brief screening tool called the PROMIS. The study also looked at the association between neighborhood advantage and depression. The findings showed that most caregivers (94%) scored similarly to the general population, with only 3 caregivers reporting scores indicative of elevated depression. Neighborhood advantage was not associated with caregiver depression scores. These results suggest that caregivers of very young children with SCD may not experience significant depressive symptoms. Preventive interventions during the first years of life may be a strategy to support families before more serious disease complications intensify.

Sickle cell disease (SCD) affects approximately 100,000 Americans, predominantly those of African descent, yet care coordination between academic medical centers and community organizations remains limited. To identify strategies for strengthening community-academic partnerships to enhance care delivery for children with SCD through focus groups with community partners in a midwestern metropolitan area. Using qualitative descriptive methodology, we conducted two focus groups and three individual interviews with 12 community partners, including health care providers and advocates. Thematic analysis revealed three key findings: persistent multi-level knowledge gaps about SCD, the importance of strategic partnerships between health care organizations and community groups, and specific community-identified solutions for sustainable collaboration. Results highlighted how structured partnerships between academic institutions and community organizations can address systemic barriers in SCD care delivery through knowledge sharing, resource access, and coordinated screening protocols, informing practical strategies for implementing sustainable improvements in care coordination.

Background: Sickle cell disease (SCD), the most common monogenetic childhood disorder, imposes a significant psychosocial and financial burden on caregivers of affected children. Despite the availability of community-based support programs, few are tailored to the specific identified needs of caregivers managing SCD. This study presents a comprehensive program evaluation of a community-partnered caregiver retreat hosted by the St. Louis Sickle Cell Association (SCA). Methods: Researchers collaborated with the SCA to evaluate their annual weekend-long retreat. Year 1 employed a cross-sectional design using the General Self-Efficacy Scale. Year 2 implemented a pre-post design using the Family Empowerment Scale. In Year 3, a mixed-methods design included the Social Support Survey Instrument, 2 focus groups, and 6 interviews. Data were analyzed using descriptive and inferential statistics and thematic analysis. Results: Findings revealed no significant group-level empowerment changes in Year 2, though individual improvements were noted. In Year 3, caregivers reported strong emotional and social support but low tangible support. Thematic analysis identified 5 themes: SCD awareness gaps, caregiving burden, psychological toll, support variability, and caregiver-identified solutions. Caregivers emphasized a need for peer connection, mental health support, practical advocacy training, and expanded access to retreat programming. Discussion: This program evaluation demonstrates the meaningful support provided by community-based caregiver retreats while highlighting areas for enhancement. The findings underscore the value of systematic evaluation in identifying program strengths and opportunities for improvement to better serve caregiver needs. Conclusion: Community-based partnerships can enhance support for caregivers of children with SCD. This evaluation identifies essential program components and demonstrates how systematic assessment can inform program development to better address unmet caregiver needs and advance health equity.

Approximately one in six children has a disability, and effective, evidence-based rehabilitation can ameliorate the impact of these conditions over the lifespan. However, implementing interventions in real-world settings remains a challenge. This scoping review aimed to summarize the characteristics, implementation strategies, and outcomes of implementation studies in pediatric rehabilitation. A comprehensive search was conducted in PubMed/MEDLINE, EMBASE, CINAHL, SCOPUS, and Web of Science from the database inception to December 2, 2022. Studies testing implementation strategies in pediatric rehabilitation interventions were included. Data extracted included study characteristics (e.g., country, intervention type, field of rehabilitation), implementation strategies characterized using the Expert Recommendations for Implementing Change taxonomy, and outcomes based on the Implementation Outcomes Framework. Of the 11,740 studies identified, 44 met the inclusion criteria. Most studies were conducted in the United States (n = 15, 34%) or Canada (n = 10, 23%) and used a mixed-methods design (n = 13, 30%). Interventions primarily targeted motor skills (n = 19, 43%) and were conducted in outpatient settings (n = 14, 32%) or homes (n = 11, 23%). The most commonly used implementation strategies were “train and educate key informant” (n = 21, 48%) and “use evaluative/iterative strategies” (n = 19, 43%). Feasibility (n = 19, 43%) and acceptability (n = 16, 36%) were the most frequently targeted implementation outcomes. Reporting implementation strategies and outcomes in pediatric rehabilitation studies is limited and highly variable. Most strategies focused on developing and sharing educational materials, while administrative and systems-level interventions were largely absent. Standardized documentation of implementation strategies and outcomes could advance the field’s understanding of the effective development of interventions designed for implementation, encouraging faster uptake of effective interventions.