Beyond the floor effect on the WISC-IV in individuals with Down syndrome. Are there cognitive strengths and weaknesses?

Individuals with Down syndrome generally show a floor effect on Wechsler Scales that is manifested by flat profiles and with many or all of the weighted scores on the subtests equal to 1. Method The main aim of the present paper is to use the statistical Hessl method and the extended statistical method of Orsini, Pezzuti and Hulbert with a sample of individuals with Down syndrome (n = 128; 72 boys and 56 girls), to underline the variability of performance on Wechsler Intelligence Scale for Children-Fourth Edition subtests and indi- ces, highlighting any strengths and weaknesses of this population that otherwise appear to be flattened. Results Based on results using traditional transformation of raw scores into weighted scores, a very high percentage of subtests with weighted score of 1 occurred in the Down syndrome sample, with a floor effect and without any statistically significant difference between four core Wechsler Intelligence Scale for Children-Fourth Edition indices. The results, using traditional transformation, confirm a deep cognitive impairment of those with Down syn- drome. Conversely, using the new statistical method, it is immediately apparent that the variability of the scores, both on subtests and indices, is wider with respect to the traditional method. Conclusion Children with Down syndrome show a greater ability in the Verbal Comprehension Index than in the Working Memory Index

Fetal hemoglobin expression in compound heterozygotes for -117 (G→A) ^Aγ HPFH and β⁰39 nonsense thalassemia

The-117(G→A) Aγ hereditary persistence of fetal hemoglobin (Greek HPFH) and β039-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these defects indicated that HPFH was linked to haplotype VII and β039-thal to haplotype II. Haplotype II β039-thal chromosome carries the AγT gene which is a useful marker of γ-gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 -117 HPFH carriers, the Aγt, and Gγ globin level was determined. AγT was underexpressed while Gγ was significantly increased, which suggests that in -117 Aγ HPFH/β039-thal healthy subjects the increase in Hb F production is determined only by the -117 mutated Aγ gene and the adjacent Gγ gene