Who should care for children with Down syndrome?

Abstract

Children with Down syndrome are known to have intellectual disability and a wide variety of malformations, such as congenital heart defects, small ears, small mouths, and other physical findings, along with medical conditions such as hypothyroidism, hip dislocation, hearing loss, cataracts, atlantoaxial instability, and leukemia. In 2011, the American Academy of Pediatrics (AAP) updated its guidelines for health supervision of the child with Down syndrome to assist the pediatrician to care for the child with Down syndrome (https://pediatrics.aappublications.org/content/128/2/393). These guidelines seem straightforward, but they do not take into account the practicality of delivering that care. Two studies in this volume of The Journal should make us pause and re-consider who should care for children with Down syndrome, and how that care should be delivered. Joslyn et al used application programming interfaces in a population-based US sample of individuals with Down syndrome to determine the distances between an individual and a set of comprehensive Down syndrome specialty care clinics. One in 5 individuals was found to have significant geographic obstacles to receiving this specialty care. In another retrospective, population-based Hong Kong cohort of live births with Down syndrome from 1995 to 2014, Chua et al found that 1- and 5-year survival in Down syndrome were 94.4% and 92.6%, respectively, now similar to that which is seen in Western countries; the mortality rate in Hong Kong decreased significantly in the early 2000s. Meanwhile the live birth rate of children with Down syndrome declined steeply in Hong Kong over the past decades, from 11.8 per 10 000 live births in 1995 to 3.4 per 10 000 in 2014. With declining birth rates, yet a higher prevalence of childhood and adult survivors with Down syndrome, what is the optimal model to deliver care for the individual with Down syndrome? The inaccessibility to comprehensive clinics for American families is likely a larger problem worldwide. However, primary care providers are not positioned either to deliver optimal care to individuals with Down syndrome. A 2016 study showed that pediatricians adhere poorly to AAP guidelines for health supervision in Down syndrome, though compliance could be improved by an educational intervention (J Pediatr 2016;171:262-8.e1-2). Clearly, there is a need to improve the overall delivery of health care for individuals with Down syndrome. Some potential solutions might include telehealth, implementation of pathways in electronic medical records to track the required comprehensive care, and novel partnerships of specialists and primary care providers in both pediatric and adult medicine to deliver complex care. Although Down syndrome is indeed an incredibly complex, multi-system condition, affected individuals, their families, and primary care physicians and specialists in both pediatric and adult medicine have an opportunity to partner to provide a uniquely new model for complex care delivery in the 21st century. Article page 138 and 146▸