Immunometabolic interactions in individuals with down syndrome across childhood, adolescence and adulthood in relation to their siblings.

INTRODUCTION AND AIM: Down syndrome is the most common chromosomal disorder characterized by a wide spectrum of clinical symptoms such as immune system dysregulation and co-occurring metabolic disorders, including an increased risk of cardiovascular disease. Therefore, the aim of this study was to evaluate the immunometabolic interactions in children adolescents and adults with Down syndrome (DS) and to compare selected inflammatory and metabolic parameters with those observed in their siblings.

MATERIALS AND

METHODS

The study included n= 63 individuals who were divided into two groups: group with DS n=42 (mean age: 14.2 ± 6.6) and control group (CG) n=21 (mean age: 15.6 ± 6.9). In addition, patients in both groups were also divided according to age ≤ 18 years and >18 years of age. Carbohydrate-lipid and immunological profiles were analyzed using spectrophotometric and immunoenzymatic methods. Statistical analysis was performed using R studio software.

RESULTS

In the DS group ≤ 18 years significantly higher obesity rates, i.e., Ponderal Mass Index (TMI), were observed (p=0.04), which was also associated with statistically significantly higher level of non-HDL (p=0.02) and apoB (p=0.04). Among lipid parameters, apolipoprotein A demonstrated relatively high diagnostic utility (AUC = 0.818, sens%=60.0, spec%=95.2). Significantly lower cytokine levels were observed in the DS group for IL-10 (p=0.006), IL-13 (p<0.01), and IL-22 (p=0.002). The highest diagnostic utility among the assessed cytokines was demonstrated for IL-5 (AUC = 0.814, sens%=71.10, spec%=88.1).

CONCLUSION

The analyses conducted indicate significant differences between the studied groups of patients with Down syndrome and the control group. The presence of an additional copy of 21 the chromosome leads to changes in the immune system, influences the heterogeneous cytokine profile, and consequently may increase the development of metabolic disorders.