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Clinical features of Black African neonates with Down's syndrome
A L Christianson1, J G Kromberg, E Viljoen
1Department of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, Republic of South Africa.
Insights
Down syndrome (DS) is more common in African infants than previously thought. Differences in craniofacial features may lead to underreporting, highlighting the need for increased clinical awareness and examination for diagnosing DS in newborns.
Area of Science:
- Medical Genetics
- Pediatrics
- Clinical Diagnostics
Background:
- Historical underreporting of Down syndrome (DS) in Black African populations.
- Recent data suggest a similar or higher incidence of DS in Africa compared to Western countries.
- Lack of recognition at birth may contribute to underreporting.
Purpose of the Study:
- To document and compare musculoskeletal, central nervous system, and craniofacial features in Black African neonates with DS.
- To compare findings in Black African neonates with a reported series of Caucasian neonates with DS.
- To investigate potential reasons for underreporting of DS in African populations.
Main Methods:
- Documented features in 40 Black African neonates with DS and 50 Black African control neonates.
- Compared findings with a reported series of 37 Caucasian neonates with DS and 40 healthy Caucasian newborns.
- Focused on musculoskeletal, central nervous system, and craniofacial characteristics.
Main Results:
- Musculoskeletal and central nervous system features were similar between Black African and Caucasian infants with DS.
- Craniofacial features of Black African neonates with DS more closely resembled those of normal African neonates.
- Caucasian neonates with DS showed more distinct craniofacial differences compared to their healthy Caucasian controls.
Conclusions:
- Craniofacial similarities may contribute to the underreporting of Down syndrome in Black African infants.
- Emphasizes the critical need for heightened clinical awareness and thorough examination for DS diagnosis in this population.
- Suggests that diagnostic criteria may need to account for population-specific variations in phenotypic presentation.
Abstract:
Early reports indicated a low prevalence of Down's syndrome (DS) in black African children. More recent research demonstrates an incidence similar to, or higher than that reported to occur in First World populations. One of the possible reasons for underreporting of DS in Africa, appears to be the lack of recognition of the problem at birth. In this study, the musculoskeletal, central nervous system and craniofacial features are documented in 40 black DS neonates and 50 black control neonates without DS, and the findings are compared with those from a reported series of 37 caucasian DS and 40 healthy newborns. Musculoskeletal and central nervous system features were markedly similar in black and caucasian infants. However, the craniofacial features of the African DS newborns approximated more closely those of the normal African neonates, than was the case in the caucasian DS and normal neonates. This finding may partially explain the underreporting of DS in this population, and it emphasizes the need for a clinical awareness of DS and for complete clinical examination to identify affected infants.