Objectives To determine the prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) in a sample of children with Down syndrome (DS) and to evaluate the effect of macrocytosis on the ...diagnosis of ID/IDA in these children. Study design Children with DS ≥12 months of age who were followed at the Duke University Medical Center Comprehensive DS Clinic from December 2004 to March 2007 were screened for ID/IDA with a complete blood count, reticulocyte count, iron panel, and erythrocytic protoporphyrins. Results A total of 114 children were enrolled, with a median age of 4.7 years. ID was identified in 12 subjects (10%), and IDA was identified in 3 subjects (3%). ID/IDA would not have been accurately diagnosed in 13 of 15 subjects (86%) if red blood cell (RBC) indices alone had been used for screening. Abnormal RBC indices with low transferrin saturation were 100% sensitive for ID/ IDA screening. Conclusions Prevalence of ID/IDA in children with DS was comparable with that in the general pediatric population. Macrocytosis had implications for screening of ID/IDA with only RBC indices. We suggest ID/IDA screening in DS children be done with a laboratory panel at least including complete blood count, reticulocyte count, transferrin saturation, and serum ferritin.
Background Children with Down syndrome (DS) have an increased prevalence of ocular disorders, including amblyopia, strabismus, and refractive error. Health maintenance guidelines from the Down ...Syndrome Medical Interest Group recommend ophthalmologic examinations every 1 to 2 years for these children. Photoscreening may be a cost-effective option for subsequent screening evaluations after an initial complete examination, but no study has evaluated the accuracy of photoscreening in children with DS. The purpose of this study is to determine the sensitivity, specificity, and positive and negative predictive values of photoscreening in detecting treatable ocular conditions in children with DS. Methods Photoscreening and complete ophthalmologic evaluations were performed in 50 consecutive 3- to 10-year-old children with DS. Sensitivity, specificity, and positive and negative predictive values were calculated with the use of ophthalmologic examination findings as the reference standard. Results Most children were able to complete photoscreening (94% with Medical Technology and Innovations MTI and 90% with Visiscreen OSS-C VR). Many children had an identified diagnosis on ophthalmologic examination (n = 46, 92%). Of these, approximately one-half (n = 27, 54%) had one or more condition(s) requiring treatment. Both the MTI and VR photoscreening devices had a sensitivity of 93% (95% confidence interval 0.76−0.99) for detecting treatable ocular conditions. The specificities for the MTI and VR photoscreening were 0.35 (0.18-0.57) and 0.55 (0.34-0.74), respectively. Conclusions Photoscreening is sensitive but less specific at detecting treatable ocular conditions in children with DS. In specific instances, the use of photoscreening in the DS population has the potential to save time and expense related to routine eye examinations, particularly in children with a normal baseline comprehensive examination.
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