Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS

Communicative and linguistic development in preterm children: A longitudinal study from 12 to 24 months

Background: Research conducted on preterm children's linguistic skills has provided varying pictures, and the question of whether and to what extent preterm children are delayed in early language acquisition remains largely unresolved. Aims: To examine communicative and linguistic development during the second year in a group of Italian children born prematurely using the ‘Primo Vocabolario del Bambino’ (PVB), the Italian version of the MacArthur–Bates Communicative Development Inventory. The primary goal was to compare action/gesture production, word comprehension, and word production, and the relationship between these three domains in preterm children and to normative data obtained from a large sample of Italian children born at term. A second aim was to address the longstanding debate regarding the use of chronological versus corrected gestational age in the assessment of preterm children's abilities. Methods & Procedures: Parents of twelve preterm children completed the PVB questionnaire at five age points during the children's second year, and scores were compared with those from a normative sample of full‐term children and those of 59 full‐term children selected as a control group from the normative sample for the PVB. Outcomes & Results: Preterm children exhibited a delay in all three aspects of communication and language. In particular, communicative–linguistic age tended to lag approximately 3 months behind chronological age when children were between the ages of 12 and 24 months. When chronological age was used, preterm children's percentile scores for all three components of communication and language fell within the lower limits of the normal range, while scores calculated using corrected age either fell at or above the 50th percentile. Conclusions & Implications: Findings suggest that despite the significant biological risk engendered by premature birth, early communicative and linguistic development appears to proceed in a relatively robust fashion among preterm children, with tight relations across communicative domains as in full‐term children. Employing both chronological and corrected gestational age criteria in the evaluation of preterm children's abilities may provide important information about their progress in language acquisition. This may be especially important during the initial stages of communicative and linguistic development, inasmuch as comparisons of the two sets of scores may provide clinicians with a way to distinguish children who may be at risk for language problems from those who may be expected to progress normally

Interaction of child disability and stressful life events in predicting maternal psychological health. Results of an area-based study of very preterm infants at two years corrected age.

This study aimed at exploring the relationship between severe neuromotor and/or sensory disability in very preterm infants assessed at 2 years corrected age and their mothers' psychological health. Data on 581 Italian singletons born at 22-31 weeks of gestation in five Italian regions and their mothers were analyzed. Maternal psychological distress was measured through the General Health Questionnaire short version (GHQ-12). The prevalence of any maternal distress (GHQ scores. ≥. 2) and of clinical distress (scores. ≥. 5) were 31.3% and 8.1% respectively. At multivariable analysis, we found a statistically significant association between child's disability and mothers' GHQ scoring ≥5 (OR 3.45, 95% CI 1.07-11.15). Also lower maternal education appeared to increase the likelihood of psychological distress (OR 1.38, 95% CI 1.14-1.66). The impact of child disability was weaker in women who had experienced additional stressful life events since delivery, pointing to the existence of a "ceiling" effect. Maternal psychological assessment and support should be included in follow-up programs targeting very preterm infants

A two-year follow-up study of very preterm infants in Italy: aims and study design.

This paper describes the objectives and study design of a population-based follow-up study of very preterm children in Italy (the ACTION 2 project), with a discussion of the methodological choices made and the difficulties encountered. Five Italian regions participated. All children born in these regions at 22-31 weeks of gestational age and discharged alive from neonatal intensive care units were eligible (n = 1407). The overall follow-up rate was 83%. Children born to foreign mothers, singletons and those with a slightly higher birth weight were less likely to return for follow-up. The assessment included a paediatric medical visit at 2 years corrected age to identify major neuromotor and sensory disability, a cognitive and behavioural screening carried out by means of a parental questionnaire, and a post-visit telephone interview with the mother. A control group of term-born 2-year-old children was recruited for the parental questionnaire and telephone interview only. The strengths of this study are the population-based approach, the large sample size and the focus on a functional assessment of development. The main limitation is the lack of formal cognitive testing. Follow-up of the cohort at school age will be necessary to obtain a full picture of the growth and development of these children. © 2009 Elsevier Ltd. All rights reserved

Italian multicentre study on retinopathy of prematurity

The aim of this prospective multicentre study was to evaluate the influence of a number of perinatal factors on the development of ROP in high risk preterm infants with gestational age less than or equal to 30 weeks. All infants consecutively born in, or transferred to, one of the 14 participating centres from 1 January 1992 through 31 December 1993, who had a gestational age of 30 weeks or less and no congenital anomalies and survived to the age of 6 months, were included in the study. Of the 380 infants with mean +/- SD gestational age of 28.4 +/- 1.6 weeks (range 23-30 weeks) and birth weight of 1157 +/- 335 g (range 485-2480 g) that were eligible for the study, 82 (21.5%) developed ROP stage 1 or 2 and 57 (15%) ROP stage 3 or 3+. Step-wise logistic regression analysis showed that the following factors had a significant predictive value for the development of ROP stage 3 or 3+: gestational age (Odds Ratio (OR)=0.6144 for each increment of 1 week of gestational age), birth weight (OR=0.843 for each increment of 100 g of birth weight), prenatal steroids (OR 4.044 for lacking or incomplete prophylaxis), RDS (OR 2.294), oxygen dependency at 60 days (OR 2.085), necrotising enterocolitis (OR 2.597). Conclusion This study confirms the role of prematurity, low birth weight and RDS in the pathogenesis of ROP, and emphasises the importance of prenatal steroid prophylaxis of RDS in very preterm infants. Furthermore, our data suggest that infants with oxygen dependency at 60 days or necrotising enterocolitis are at very high risk of developing ROP