Related Experiment Video
Updated: Aug 19, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Current developmental screening practices in young children with sickle cell disease
Chibuzo J Aguwa1,2, Alicia D Cannon3, James F Casella4
1Neurodevelopmental Medicine, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland, USA.
Insights
Children with sickle cell disease (SCD) often miss crucial developmental screenings. This study highlights significant gaps in timely and appropriate neurodevelopmental disorder (NDD) surveillance for these vulnerable children.
Area of Science:
- Pediatric Hematology
- Neurodevelopmental Pediatrics
- Public Health
Background:
- Neurodevelopmental disorders (NDDs) can impact children with sickle cell disease (SCD).
- Current guidelines recommend regular developmental screening for children with SCD.
- Observed rates of NDDs in children with SCD appear lower than anticipated, suggesting potential underdiagnosis.
Purpose of the Study:
- To evaluate the adherence to developmental screening guidelines in children with sickle cell disease.
- To assess the frequency and appropriateness of developmental and autism-specific screenings in this population.
- To identify disparities in screening practices for children with SCD.
Main Methods:
- Retrospective chart review of 276 children with sickle cell disease.
- Analysis of the availability and completion rates of developmental and autism-specific screenings.
- Examination of the tools used and the age appropriateness of screenings conducted.
Main Results:
- Developmental screening was performed in 70% of charts, while autism-specific screening occurred in only 19%.
- Validated tools were utilized in 32% of general developmental screenings but 92% of autism-specific screenings.
- A significant proportion of children (57%) were screened outside the recommended age windows.
Conclusions:
- Children with sickle cell disease are not consistently receiving recommended developmental screening and surveillance.
- There are significant gaps in the systematic application of validated screening tools and adherence to age guidelines.
- Healthcare providers need to improve the implementation of developmental monitoring for children with SCD to ensure early detection of NDDs.
Abstract:
Despite recent developmental screening guidelines, rates of neurodevelopmental disorders (NDDs) remain lower than expected in children with sickle cell disease (SCD). A retrospective chart review identified 276 eligible patients; 214 charts were available for developmental screening and 207 charts for autism-specific screening. Developmental surveillance/screening was conducted in 70% of charts and autism-specific screening in 19% of charts. Validated tools were used in 32% of developmental screenings and 92% of autism-specific screenings. Many children (57%) were screened outside recommended ages. In conclusion, children with SCD are not regularly receiving appropriate developmental screening and surveillance by their healthcare providers.
