Dysphagia and Body Composition in Cornelia de Lange Syndrome

Abstract

Background/Objectives: Limited research had investigated nutritional status in patients with Cornelia de Lange Syndrome (CdLS) (OMIM 122470, 300590, 300882, 610759, 620568 and 614701). Body composition assessed via bioelectric impedance (BIA) is a particularly under-explored issue. In this cross-sectional study, we hypothesize that body composition imbalance is frequent in CdLS and may be associated with dysphagia. We aimed to determine dysphagia prevalence in CdLS. Dysphagia may be a sign or a complication of GERD (gastroesophageal reflux disease), which is the most frequent gastroenterological disorder in CdLS patients; Methods: Fourteen Polish patients with a clinical or genetic diagnosis of CdLS were included in the study. We performed body composition analysis via bioelectric impedance taking into account the phase angle (PhA) and Body Cell Mass (BCM) in patients who cooperated and were able to sit still. The patients’ caregivers completed the pediatric version of the Eating Assessment Tool (PEDI-EAT-10). Based on the questionnaire scoring, we divided the patients into dysphagic and non-dysphagic groups. Body compartments of those two groups were compared. Statistical correlations between PhA and the PEDI-EAT-10 score were calculated; Results: Eleven of the fourteen CdLS patients had abnormalities in the BIA analysis in terms of fat mass (FM), fat free mass (FFM) and skeletal muscle mass (SMM). Six patients had excessive FM and four patients were deficient in FM. Two had deficiency in FFM and two had excessive FFM. We noted prevalence of dysphagia at 28.57%, with four patients having an PEDI-EAT-10 score higher or equal to 3, categorized as dysphagic. The dysphagic and non-dysphagic groups were not significantly different in terms of the proportion of patients with FM, FFM, SMM and BCM in the small cohort presented here. A statistically significant inverse correlation was found between the PhA and PEDI-EAT-10 score (rho = −0.72; p = 0.003); Conclusions: CdLS patients require investigation for dysphagia and nutritional status imbalance, as they are both frequent in this syndrome. The most prevalent are abnormalities in FM, both excess and deficit. PhA deviations observed in the bioimpedance study deepen with the severity of dysphagia. These findings require further investigation in a larger cohort.