Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action.

BACKGROUND: Sickle cell disease (SCD) is a chronic multisystem disorder requiring comprehensive care that includes newborn screening (NBS) as the first step of care. Italy still lacks a national SCD NBS program and policy on blood disorders. Pilot single-center screening programs and a regional targeted screening have been implemented so far, but more evidence is needed in order to impact health policies. POPULATION AND METHODS: NBS was offered to parents of newborns in gynecology clinics in Padova and Monza, tertiary care university hospitals in northern Italy. High-performance liquid chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards. Molecular analysis of the beta-globin gene was performed on positive samples. RESULTS: A total of 5466 newborns were enrolled; for 5439, informed consents were obtained. A similar family origin was seen in the two centers (65% Italians, 9% mixed couples, 26% immigrants). Compared with SCD NBS programs in the United States and Europe, our results show a similar incidence of SCD patients and carriers. All SCD patients had a Sub-Saharan family background; HbS carriers were 15% Caucasians (Italian, Albanians) and 10% from other areas (North Africa-India-South America); carriers of other hemoglobin variants were mainly (47%) from other areas. CONCLUSIONS: Our results demonstrate the feasibility of a multicentric NBS program for SCD, give information on HbS epidemiology in two Northern Italian Areas, and support previous European recommendation for a universal NBS program for SCD in Italy: a high incidence of patients and carriers has been detected, with a high percentage of Caucasian carriers, impossible to identify in a targeted NBS.

A mental number line in human newborns.

Humans represent numbers on a mental number line with smaller numbers on the left and larger numbers on the right side. A left-to-right oriented spatial-numerical association, (SNA), has been demonstrated in animals and infants. However, the possibility that SNA is learnt by early exposure to caregivers' directional biases is still open. We conducted two experiments: in Experiment 1, we tested whether SNA is present at birth and in Experiment 2, we studied whether it depends on the relative rather than the absolute magnitude of numerousness. Fifty-five-hour-old newborns, once habituated to a number (12), spontaneously associated a smaller number (4) with the left and a larger number (36) with the right side (Experiment 1). SNA in neonates is not absolute but relative. The same number (12) was associated with the left side rather than the right side whenever the previously experienced number was larger (36) rather than smaller (4) (Experiment 2). Control on continuous physical variables showed that the effect is specific of discrete magnitudes. These results constitute strong evidence that in our species SNA originates from pre-linguistic and biological precursors in the brain.

How face specialization emerges in the first months of life.

The present chapter deals with the topic of the ontogeny and development of face processing in the first months of life and is organized into two sections concerning face detection and face recognition. The first section focuses on the mechanisms underlying infants' visual preference for faces. Evidence is reviewed supporting the contention that newborns' face preferences is due to a set of non-specific constraints that stem from the general characteristics of the human visuo-perceptual system, rather than to a representational bias for faces. It is shown that infants' response to faces becomes more and more tuned to the face category over the first 3 months of life, revealing a gradual progressive specialization of the face-processing system. The second section sought to determine the properties of face recognition at birth. In particular, a series of experiments are presented to examine whether the inner facial part is processed and encoded when newborns recognize a face, and what kind of information--featural or configural--newborns' face recognition rely on. Overall, results are consistent with the existence of general constraints present at birth that tune the system to become specialized for faces later during development.