Altogether, we argue that standardized recommendations for neuro‐imaging protocols could contribute to clinical awareness of the heterogeneous cranial abnormalities involved in CHARGE syndrome and improve care.īergman, Janssen, et al. The need to improve imaging while reducing risks therefore warrants guidelines for performing neuro‐imaging in an optimal and efficient way. Second, as individuals with CHARGE syndrome are at increased risk of post‐operative airway complications, procedures under anesthesia should be combined as much as possible (Blake et al., 2009). As a result, some of the cranial malformations occurring in CHARGE syndrome were noted first in animal models (e.g., cerebellar abnormalities (Yu et al., 2013)) or were found only after structured evaluation of images of a series of individuals (Hoch et al., 2017). First, in our experience and that of others, cranial imaging in individuals with CHARGE syndrome is often performed incompletely or with insufficient resolution. To date, no guidelines for cranial imaging in CHARGE syndrome have been published, but we see two important reasons why there is a need for such a guideline. A PDF of the checklist is available for download from American Journal of Medical Genetics Part A, 173A, 684–691. Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). Republished (with permission) from Trider C‐L, Arra‐Robar A, van Ravenswaaij‐Arts C, Blake K. ( 1998) and the clinical checklist published recently by Trider (see Figure Figure1, 1, (Trider, Arra‐Robar, van Ravenswaaij‐Arts, & Blake, 2017)). For this special issue of the American Journal of Medical Genetics (part C), we have examined these guidelines by performing a structured literature search and reviewing the existing advice, including that of hallmark papers by Blake et al. The diverse clinical aspects of CHARGE syndrome have been studied by several groups worldwide, resulting in extremely useful guidelines and recommendations. The clinical challenge of such a complex disorder is that some clinical problems may remain undiagnosed as other more severe or even life‐threatening complications consume all medical attention. There is also a striking variability in severity, with both very mild cases and severe early lethal cases going undiagnosed. As a result, comorbidity is high and extremely variable. It is a very complex syndrome with a broad phenotype that can involve almost all organ and sensory systems. We hope the guideline for neuroradiological evaluation will help clinicians provide efficient and comprehensive care for individuals with CHARGE syndrome.ĬHARGE syndrome is a relatively frequently occurring genetic syndrome with an estimated incidence of 1 in 15,000. However, comprehensive cranial imaging is also of tremendous value for timely diagnosis, proper treatment of symptoms and for further research into CHARGE syndrome. This is of importance, as patients with CHARGE are at risk for peri‐anesthetic complications, making recurrent imaging procedures under anesthesia a particular risk in clinical practice. We also identified a gap in literature when reviewing all guidelines and recommendations, and we propose a guideline for neuroradiological evaluation of patients with CHARGE syndrome. Our findings provide additional support for the validity of the recently published Trider checklist. Here we perform a structured literature review to examine all the existing advice. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. “CHARGE syndrome” is a complex syndrome with high and extremely variable comorbidity.
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