The cost of Rett syndrome

Abstract

In recent years, inflation in medical costs has been well documented. Medical care for chronic illnesses make up most of the expenses of any health care system. Avoiding unnecessary medical procedures may save much needed resources without comprising quality of care. A good example is Rett syndrome, which is a severe neurodevelopmental disorder affecting mainly females, with an estimated prevalence of 1 in 10 000 live female births. The article by Rodocanachi Roidi et al. describes a positive step forward in the utilization of free resources, mostly from outside the medical world (e.g. parental availability and knowledge). The article explores the usability of an evaluation scale designed for Rett syndrome and found it reliable when used by non-medical personnel (i.e. caregivers). The authors also present evidence that the Rett Syndrome Motor Evaluation Scale scores provided by clinicians and parents were highly correlated. This approach is encouraging and should be followed by research into advanced intervention methods with individuals with chronic conditions. However, the discussion of a correlation between genetic findings and functional status is potentially problematic. Alas, this is not the first study headed in this direction. Having personally evaluated over 500 individuals with Rett syndrome, I have found the diversity of this population to be immense. Moreover, despite some correlation between the type of mutation and the severity of certain symptoms in Rett syndrome, these connections are obscured by other factors including variations of inactivation of one of the two X chromosomes, which occurs at random in each cell. The problem is that most financial decision-making in the field of health care is done by policy makers not necessarily familiar with every chronic illness and is generally focused on reducing financial costs. Because these decisions are sometimes based on the genetic findings without relating to the person’s functional condition or resources (family/caregivers), special caution must be applied when considering such correlation and comprehensive assessment of clinical situations must include expert input from caregivers.