Patients with VACTERL association deserve careful scrutiny: Response to Jenetzky et al.
✍ Scribed by Benjamin D. Solomon; Manu S. Raam; Daniel E. Pineda-Alvarez; Derek A.T. Cummings
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 65 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
✦ Synopsis
In their correspondence regarding one of our group's recent articles on VACTERL association, Dr. Jenetzky and his colleagues highlight a number of relevant issues that make research on this condition challenging [Solomon et al., 2010;Jenetzky et al., 2011]. VACTERL association is difficult to study for a number of reasons, including variability regarding the number and type of component malformations used to define the condition, its considerable etiologic and clinical heterogeneity, and the wide differential diagnosis. We thank Jenetzky et al. for helping focus attention on these challenges.
As a central concern, Jenetzky et al. mention the issues of external validity and sampling bias, and we freely admit that these issues are relevant. For example, as Jenetzky et al. point out, our approach, which involves prospective recruitment of patients diagnosed with VACTERL association, can suffer from sampling bias due to possible increased enrollment of more severely affected individuals. Conversely, however, one might also argue that there is bias towards the less severely affected, as individuals who do not survive are less likely to participate in our study. Sample bias is a potential concern for many studies. For instance, studies on VACTERL association based on malformation registries may be affected by differences between monitoring programs, inconsistent collection of specific clinical data, and insufficient distinction of VACTERL association from other disorders [Rittler et al., 1996;Botto et al., 1997;K€ all en et al., 2001]. This does not mean that these studies are not incredibly valuable-just that both researchers and research consumers should be aware of such issues. Thus, we certainly concur with Jenetzky et al.'s observation that it is difficult to extrapolate data from many existing VACTERL studies due to the lack of a uniform definition of the condition itself, as well as the difficulty of determining to whom we are generalizing findings.
Jenetzky et al. also discuss that anorectal malformations and tracheo-esophageal fistulae are more specific defects whose role is easier to pinpoint than the collective categories of vertebral, cardiac, renal, and limb anomalies, and we are inclined to agree. Jenetzky's suggested approach, while also potentially subject to bias by requiring all included patients to demonstrate a certain component feature, is still quite laudable. There are pros and cons to many possible ways of studying VACTERL association, and using different lenses to view the disease may ultimately help provide more satisfying answers. We also heartily agree that one should not ''over-This article is a US Government work and, as such, is in the public domain in the United States of America.