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Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences
Stephanie L Santoro1, Lisa J Martin2, Robert J Hopkin2
1Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA Nationwide Children's Hospital Medical Center, Columbus, OH, USA stephanie.santoro@nationwidechildrens.org.
Insights
Children with mosaic Down syndrome (mDS) show similar hematological complications to those with nonmosaic DS. However, screening practices, especially for younger children, are suboptimal, indicating a need for consistent monitoring schedules for all children with DS.
Area of Science:
- Pediatrics
- Genetics
- Medical Guidelines
Background:
- Children with Down syndrome (DS) have increased risks for various medical conditions.
- Existing health care guidelines for DS do not specify applicability to mosaic DS (mDS).
- Hematological complications in mDS are comparable to those in nonmosaic DS.
Purpose of the Study:
- To survey families of children with mDS about screening practices and identified complications.
- To assess current monitoring practices for children with mDS.
- To determine if children with mDS should follow the same screening schedules as children with nonmosaic DS.
Main Methods:
- Survey administered to parents of children with mDS regarding screening and complications.
- Analysis of screening practices, including lab tests and complete blood counts (CBC).
- Comparison of screening rates between different age groups.
Main Results:
- Only 69% of surveyed parents reported ever having a screening lab test for their child.
- A mere 57% had ever had a screening complete blood count (CBC).
- Younger children (0-3 years) were significantly less likely to be screened for CBC (50%) compared to older children (4-12 years, 90%).
Conclusions:
- Screening practices for children with mDS are suboptimal, with the youngest children being most vulnerable.
- There is a discrepancy between perceived physician adherence and actual screening practices.
- Children with mDS require consistent monitoring and should be screened on the same schedule as children with nonmosaic DS.
Abstract:
Children with Down syndrome (DS) have increased risk for multiple medical conditions with published health care guidelines. Current guidelines do not specify whether or not they apply to mosaic DS (mDS). We surveyed families of patients with mDS regarding screening, including monitoring practices as well as complications identified. Hematological complications were similar to those reported in nonmosaic DS. Of 91 parents of children with mDS surveyed, only 69% had ever had a screening lab; only 57% had ever had a screening complete blood count (CBC). Younger children were less likely to be screened (for CBC, 50% of 0- to 3-year-olds vs 90% of 4- to 12-year-olds; P = 0.0036). Screening practices are suboptimal, with the youngest children at greatest risk. Comparing reported screening practices with physician adherence, there was discrepancy between perceptions of adherence and perceptions of practice. Children with mDS should be monitored on the same schedule as other children with DS.
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