Micronutrient status in children and adolescents with Down syndrome: systematic review and meta-analysis.

BACKGROUND: Down syndrome (DS) is the most common genetic disorder. To date, the scientific literature regarding micronutrient status in children and adolescents with DS has not been systematically reviewed. Therefore, our aim was to provide a systematic review and meta-analysis on this topic. METHODS: We identified all relevant case-control studies published by 1 January 2022, by searching the PubMed and Scopus databases for original English-language articles analysing the micronutrient status of individuals with DS. Forty studies were included in the systematic review and 31 in the meta-analysis. RESULTS: Statistically significant differences between individuals with DS (cases) and non-DS (controls) (P ≤ 0.05) were obtained for zinc, selenium, copper, vitamin B12, sodium and calcium. Serum, plasma and whole blood analyses showed lower zinc levels in cases than controls {standardised mean difference [SMD] serum [95% confidence interval (CI)] = -2.32 [-3.22, -1.41], P < 0.00001; SMD plasma [95% CI] = -1.29 [-2.26, -0.31], P < 0.01; SMD blood [95% CI] = -1.59 [-2.29, -0.89], P < 0.00001}. Similarly, plasma and blood selenium concentrations were significantly lower in cases than controls (SMD plasma [95% CI] = -1.39 [-2.26, -0.51], P = 0.002; SMD blood [95% CI] = -1.86 [-2.59, -1.13], P < 0.00001). Intraerythrocytic copper and serum B12 were higher in cases than controls (SMD Cu [95% CI] = 3.33 [2.19, 4.46], P < 0.00001; SMD B12 [95% CI] = 0.89 [0.01, 1.77], P = 0.048). Blood calcium was lower in cases than controls (SMD Ca [95% CI] = -0.77 [-1.34, -0.21], P = 0.007). CONCLUSIONS: This study provides the first systematic overview of micronutrient status in children and adolescents with DS and has shown that relatively little consistent research has been executed in this field. There is a clear need for more well-designed, clinical trials to study the micronutrient status and effects of dietary supplements in children and adolescents with DS.

Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p.

We describe the clinical case of a nine-year-old boy with psychomotor retardation and a small supernumerary marker chromosome (sSMC) present in mosaic form. Fluorescence in situ hybridization (FISH) using centromere cross-hybridizing probes D1/5/19Z (pZ5.1), the whole chromosome paint probe 19, pool YACs19p (839B1, 872G3, 728C8), and pool YACs19q (767C4, 761C1, 786G6) demonstrated that the sSMC was derived from chromosome 19p. Based on GTG-banding and FISH analyses, the patient's karyotype was interpreted as: 47,XY,+mar.ish der(19) (:p13.3-->p11:)(839B1+, 872G3+,728C8+, D1/5/19Z+) de novo[52]/46,XY[48]. To our knowledge, only two other similar cases have been reported. This case helps to better delineate karyotype-phenotype correlations between sSMC 19p and associated clinical phenomena.

BanI polymorphism of cytosolic phospholipase A2 gene is associated with age at onset in male patients with schizophrenia and schizoaffective disorder.

The enzymes phospholipases A2 are believed to be involved in the pathology of schizophrenia. We investigated allelic and genotype frequencies of PLA2G4A BanI polymorphism and the rs4375 in PLA2G6A in Croatian schizophrenic patients (n=81) and controls (n=182), using PCR/RFLP. Genotype and allelic frequencies of both loci, alone or in combination did not show significant difference (chi2-test). Allele-wise and genotype-wise meta-analyses of BanI polymorphism in case-control and family-based studies also revealed no significant association with schizophrenia. Multiple logistic regression analyses revealed statistically significant association between several items from PANSS general psychopathology scale and BanI polymorphism in PLA2G4A. BanI polymorphism further showed a significant impact on mean age of the onset of disease in males (betaA1=0.351, P=0.021; Spearman's rA1=0.391, P=0.010) indicating lower mean age at admission in homozygous A2A2 males.