Advancing Personalized Medicine to Diagnose and Treat Disease in Vulnerable Populations
Trisomy 21 (Down Syndrome) is a well-described genetic disorder, although knowledge gaps continue to exist with regards to this population. While some children with Down syndrome have no significant health issues, medical comorbidities exist, ranging from ocular disease to congenital cardiac disorders. For example, almost half of all children born with Down syndrome will have a congenital heart defect. Children with Down syndrome are also at an increased risk of developing pulmonary hypertension, a serious condition that can lead to irreversible damage to the lungs. There is a need for an overall assessment of the health of children with Down syndrome to optimize their quality of life.
The most important commonly performed clinical test is blood pressure measurement, yet it is considerably undervalued. Some medical conditions such as sleep-disordered breathing, cardiac anomalies, and cardiovascular dysfunction may have early impacts on blood pressure although these largely go unrecognized. Furthermore, blood pressure elevations may occur up to 18 months before the diagnosis of some diseases such as moyamoya syndrome which is a cerebrovascular disorder that causes stroke. It is possible that early identification may allow medical or surgical intervention in advance. Eventually, these results can be used to assess, treat, and provide a basis for clinical decision-making for patients with Down syndrome in their pediatric medical homes. Further, utilization of blood pressure is nearly universal and is low-cost, making its reproducibility significant.
Creating reference blood pressure standards specifically adapted to children with Down syndrome can greatly enhance screening and prevent medical complications, which in turn minimize hospitalization, increase longevity, and boost overall quality of life. Earlier studies suggest that blood pressure in adults with Down Syndrome may be lower, however these studies were constrained by small sample size, heterogeneous population, and reliance on institutionalized individuals at a time of limited medical intervention.
In view of this, researchers Dr. Jonathan D. Santoro of Children’s Hospital Los Angeles and the University of Southern California and Dr. Brian Skotko at Harvard Medical School in collaboration with Dr. Sarah Lee, Dr. Michael Mlynash, Dr. Elizabeth Mayne at Stanford University together with Dr. Michael Rafii at the University of Southern California conducted a study to measure blood pressure profiles for pediatric Down syndrome patients through a multi-center retrospective chart to determine the basis for population-based metrics for use in pediatric medical homes. To achieve this, the research team obtained and carefully analyzed blood pressure records of patients younger than 18 years old. The work is currently published in the medical journal, Hypertension.
The researchers reported that children with Down syndrome have lower blood pressure than their age and gender-matched peers. Remarkably, their work is the largest sample of patients ever studied which is of particular importance as having well defined reference ranges for blood pressure may be of critical importance in the diagnosis and treatment of other medical comorbidities in this population. Dr. Santoro reported “Applying personalized medicine to persons with Down syndrome is becoming increasingly relevant as the diagnostic and therapeutic tools available to many practitioners expands. Our goal is to stop disease before it happens.” Dr. Santoro has established a Down syndrome neurology clinic at Children’s Hospital Los Angeles which now specializes in neurologic care in this vulnerable population.
Dr. Santoro and his colleagues believe the ability to provide a more personalized approach to medical care is important in this vulnerable population and that the findings may lead to higher quality medical treatment. In order to ensure, therefore, that appropriate healthcare is provided to children with Down syndrome, health services must be aware of the importance of measuring blood pressure in this population.
Santoro JD, Lee S, Mlynash M, Mayne EW, Rafii MS, Skotko BG. Diminished Blood Pressure Profiles in Children With Down Syndrome. Hypertension. 2020;75(3):819-825. doi:10.1161/HYPERTENSIONAHA.119.14416Go To Hypertension