Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences

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.

Source: Clinical Pediatrics - April 9, 2016 Category: Pediatrics Authors: Santoro, S. L., Martin, L. J., Hopkin, R. J. Tags: Articles Source Type: research