Genetic manifestations and phenotype spectrum of feeding difficulty of unknown etiology: a hospital-based cohort study

Abstract

Abstract Background Feeding difficulties of unknown etiology are often combined with multiple system disorders caused by rare genetic diseases that are difficult to diagnose only based on clinical manifestations. In this study, we aimed to investigate the genetic causes of feeding difficulty of unknown etiology. Methods Patients during 2018-10 to 2022-5 diagnosed with feeding difficulty at our institution were enrolled in this cohort study. WES was performed for patients included with feeding difficulty of unknown etiology. Clinical phenotype and genetic results of those infants were analyzed. Results Of a total of 28 infants included in this study, 12(42.9%) cases were complicated with multiple malformations. 25(89.3%) patients had positive findings in WES, 14(50%) patients were genetically diagnosed and 8(28.6%) patients were suspected diagnosed. Conclusions Feeding difficulty might be part of the phenotype spectrum of rare genetic diseases. We recommend WES for patients with feeding difficulty of unknown etiology.