An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome

The American Academy of Pediatrics (AAP) health supervision guidelines for children with Down syndrome are important for preventative and symptom-based care. Studies, however, have shown low overall adherence to these care recommendations due to a lack of provider familiarity, inaccessibility of a medical home, and caregiver burden. In a population of children with Down syndrome, using a retrospective chart review, we evaluated overall patient adherence to the medical components of the 2011 AAP guidelines, along with potential influencing factors, to determine if there was a difference in adherence between those who had genetic counseling and those who had not. Among 106 subjects meeting our study criteria, adherence rates were higher on average in six domains of health supervision (62% vs. 45%) in those that had genetic counseling compared with those that had not. Although adherence to supervision recommendations is likely impacted by numerous factors, genetic counseling may be one factor associated with increased adherence to medical recommendations for a pediatric population with Down syndrome. Encouraging caregivers of individuals with Down syndrome to undergo genetic counseling may lead to improved adherence to the health supervision guidelines.