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Introduction: The survival of preterm babies has increased worldwide, but the risk of neuro-developmental disabilities remains high, which is of concern to both the public and professionals. The early identification of children at risk of neuro-developmental disabilities may increase access to intervention, potentially influencing the outcome., Aims: Neuroprem is an area-based prospective cohort study on the neuro-developmental outcome of very low birth weight (VLBW) infants that aims to define severe functional disability at 2 years of age., Methods: Surviving VLBW infants from an Italian network of 7 neonatal intensive care units (NICUs) were assessed for 24 months through the Griffiths Mental Developmental Scales (GMDS-R) or the Bayley Scales of Infant and Toddler Development (BSDI III) and neuro-functional evaluation according to the International Classification of Disability and Health (ICF-CY). The primary outcome measure was severe functional disability at 2 years of age, defined as cerebral palsy, a BSDI III cognitive composite score < 2 standard deviation (SD) or a GMDS-R global quotients score < 2 SD, bilateral blindness or deafness., Results: Among 211 surviving VLBW infants, 153 completed follow-up at 24 months (72.5%). Thirteen patients (8.5%) developed a severe functional disability, of whom 7 presented with cerebral palsy (overall rate of 4.5%). Patients with cerebral palsy were all classified with ICF-CY scores of 3 or 4. BSDI III composite scores and GMDS-R subscales were significantly correlated with ICF-CY scores (p < 0.01)., Conclusion: Neuroprem represents an Italian network of NICUs aiming to work together to ensure preterm neuro-developmental assessment. This study updates information on VLBW outcomes in an Italian region, showing a rate of cerebral palsy and major developmental disabilities in line with or even lower than those of similar international studies. Therefore, Neuroprem provides encouraging data on VLBW neurological outcomes and supports the implementation of a preterm follow-up programme from a national network perspective.

Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G).

The aim of neonatal resuscitation is to establish an effective ventilation, avoiding lung damage. PEEP and T-piece use, as well as Sustained Lung Inflation, lower O2 target and appropriately timed surfactant administration analyzed. A new "gentle" respiratory approach in delivery room can improve newborn respiratory outcome.

The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly., (Copyright © 2012 Wiley Periodicals, Inc.)

Background: Hypoxic-ischemic encephalopathy (HIE) is one of the most frequent causes of neonatal death or neurological handicaps such as cerebral palsy, mental delay, and epilepsy. Moreover, an acute consequence of HIE are neonatal seizures which can cause an additional brain damage. The neurodevelopmental outcome is known in the mild or severe cases of HIE, but in the moderate conditions the predictivity results, to date, unsatisfying., Objective: The purpose of this prospective study was to appraise the development of post-neonatal epilepsy in a cohort of term infants with moderate HIE and neonatal seizures., Methods: This study considered all newborns admitted to Neonatal Intensive Care Unit of the University of Parma between January 2000 and December 2002 for perinatal asphyxia, then followed by Neonatal Neurology Service. In all patients, neonatal variables such as type of delivery, birth weight, gestational age, Apgar scores, the need for resuscitation and assisted ventilation soon after birth, and arterial-blood pH were analyzed., Results: Ninety-two newborns were enrolled in the study because of perinatal asphyxia. Of these, 27 subjects developed mild HIE, 25 moderate, and five severe HIE. Neonatal seizures were present in 13 subjects with moderate HIE and in all newborns with severe HIE. At the last follow-up, only three infants belonging to patients with severe HIE developed epilepsy., Conclusion: Moderate HIE seems not to be related to post-neonatal epilepsy either if associated or not with neonatal seizures.

Unlabelled: The neonate, in particular if preterm, has a specific immunological system that makes him/her more susceptible to infections which are still a major cause of mortality and morbidity. The early onset infective patterns are often vertically transmitted from the mother to the fetus in the perinatal period. Some mother conditions like genitourinary infections, pre-delivery fever, PROM, pPROM, preterm delivery, abortions, fetal demise are important neonatal risk factors. The role of these factors as causes of early onset neonatal infections was evaluated by an Italian multicentric epidemiologic investigation supported by the MIUR. Mothers admitted to obstetrician hospitals for parturition were studied in a case control retrospective analysis. Mothers presenting with the selected risk factors were the cohort of cases while the admissions without risk factors next to each case represented the controls. The following risk factors were considered for analysis: 2nd trimester abortion, PROM, pPROM, preterm delivery and fetal demise. Eight hospitals entered the multicentric research and 29610 patients have been analyzed: 2466 PROM, 478 pPROM, 946 preterm delivery, 244 abortions, 133 fetal demise. Every woman received a microbiological screening by cervico-vaginal and rectal swab and/or urine culture. As much as 3892 cases from the University Hospitals of Parma and Torino concern, the cervicovaginal swab was positive in 76.5% pPROM, in 50.6% PROM and 50.5% preterm deliveries. The positivity of the swabs showed statistical relevance in cases compared to controls. In cases presenting with abortion the frequency of positive cultures (44.1%) was higher than the controls, but it did not reach statistical relevance. Conversely, positivity of cultures was lower in cases with fetal demise than control group but without statistical difference. In the cohort of 675 women selected from our Institute (University of Parma) the overall rate of positivity of cervico-vaginal swabs was about 44% and only one germ was isolated in 94.6% cases: 49,8% Gram positive and negative, 14.1% Streptococcus hemolyticus B group, 34.7% Candida. The rate of cultural tests performed before delivery was statistically higher in cases than controls (74.3% vs 23.2%, p < 0.001). Furthermore 14.3% newborns from mothers in the case group and 2.3% newborns from mothers in the control group were admitted to the neonatal care unit. Among them 8.4% and 1.2% respectively needed antibiotics while 0.4% and 0.2% respectively presented with early onset infection. Ear swabs were performed in 48,8% of infants born to mothers from the case group and in 26.9% of infants born to mothers from the control group, in 6.5% and in 2.9% respectively were the skin swabs performed as well. No statistical difference was met. The choice to perform cultural examinations was statistically higher in cases than controls, but the positivity rate was similar in both groups, perhaps because of a more specific choice in the control group., Conclusion: our data confirm the relationship between infections and preterm delivery, PROM, pPROM and support the hypothesis that infections might be the cause of these conditions and not simply an association. A prompt maternal microbiological control during pregnancy and delivery, especially in women presenting with known risk factors, gives the possibility to do early diagnostic-therapeutic interventions and to minimize the frequency and severity of early sepsis in newborns.

Early discharge is often correlated with negative events such as feeding problems leading to hypernatremic dehydration and malnutrition and non initiation or premature cessation of breastfeeding. In the reality of Parma we have valued the impact of early discharge on breastfeeding, analyzing a cohort of 267 dyads, 134 of which were in the "late discharge" group and 133 in the "early discharge" group. Our study showed, according to the most recent literature, that early postpartum discharge did not negatively affect the start and length of breastfeeding: early discharge indeed, if associated with suppression of "hospital routines" and with home-based postpartum follow-up visits, is a determining factor for the success of breastfeeding.

The study analyses the incidence of the retinopathy of prematurity (ROP) and its correlation with the most important risk factors in neonates with gestational age (GE) < or = 32 weeks and/or with birth weight (BW) < or = 1500 g. The cohort of our study is composed by 305 preterms with Mean GE of 29.8 weeks and Mean BW of 1312 g, studied at the Neonatal Intensive Care Unit of the University of Parma during January 1993-December 1999. The incidence of ROP resulted 19.7% in our group and was inversely proportional to the GE and BW. No preterms with GE < or = 32 weeks presented retinopathy, while there has been an incidence of the 65% in the subjects with GE lower than 26 weeks. The most severe grade of ROP was mainly seen in the newborns with the lowest GE (31%), whilst only the 1.5% of the preterms with GE of 30-31 weeks developed ROP of stage 3 or 3+. Similar results were seen when the data were compared with the birth weight. However a direct relation was seen with the duration of the O2 therapy and with the typical pathologies of the prematurity, namely respiratory distress syndrome (RDS) and intraventricular haemorrhages (IVH). Among the other risk factors evaluated, the blood transfusion was the most relevant.