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Although traditionally considered sterile, human milk is currently recognized as an alive ecosystem that harbors not only bacteria, but also viruses, fungi and yeasts, and minor genera, collectively known as the human milk microbiome (HMM). The seeding of HMM is a complex phenomenon whose dynamics are still a matter of research. Many factors contribute to its determination, both maternal, neonatal, environmental, and related to human milk itself. The transmission of microorganisms to the infant through breastfeeding may impact its present and future health, mainly shaping the GI tract microbiome and immune system. The existence and persistence of HMM as a conserved feature among different species may also have an evolutionary meaning, which will become apparent only in evolutionary times. Conclusion : The complexities of HMM warrant further research in order to deepen our knowledge on its origin, determinants, and impact on infants’ health. The practical and translational implications of research on HMM (e.g., reconstitution of donor human milk through inoculation of infant’s own mother milk, modulation of HMM through maternal dietary supplementation) should not be overlooked. What is Known: • Human milk harbors a wide variety of microorganisms, ranging from bacteria to viruses, fungi and yeasts, and minor genera. • Human milk microbiome is shaped over time by many factors: maternal, neonatal, environmental, and related to human milk itself. • The transmission of microorganisms through breastfeeding may impact the infant’s present and future health. What is New: • We provide an overview on human milk microbiome, hopefully encouraging physicians to consider it among the other better-known breastfeeding benefits. • Further studies, with standardized and rigorous study designs to enhance accuracy and reproducibility of the results, are needed to deepen our knowledge of the human milk microbiota and its role in newborn and infant’s health.

Background The gut microbiota is a key determinant of long-term health. Promoting maternal health literacy may enhance children well-being. Aim of the present study was to assess gut microbiota-related health literacy of Italian women and identify potential gaps in awareness. Methods A cross-sectional survey study was conducted using an online questionnaire (17 questions) on determinants and long-term impact of infant gut microbiota. The survey targeted Italian pregnant women and mothers of children under 2 years old, and was distributed through various social media channels between September 28th and November 15th, 2022. A total score was calculated as the sum of positive answers. Data on demographics, pregnancy status, and pre-existing knowledge of the infant gut microbiota were also collected. Descriptive and inferential statistics were applied. Results The questionnaire was completed by 1076 women. Median total score was 9 [7–11]. The 81.7% of respondents declared prior knowledge of the gut microbiota. The internet was among the most commonly cited primary sources of information. Independent predictors of total score were having a university degree (B = 0.656, p  = 0.002) and prior knowledge (B = 2.246, p  < 0.001). Conversely, older age was associated with lower total scores (B = -0.092, p  < 0.001). The least known determinants of infant gut microbiota were gestational BMI, prematurity, mode of delivery and NICU stay. Pregnant women failed to recognize the role of breastfeeding in the development of infant gut microbiota more frequently than non-pregnant women. The 97.5% of participants reported increased interest in the gut microbiota, with heightened interest associated with prior knowledge. Conclusions Our study revealed a moderate level of knowledge about infant gut microbiota among respondents, emphasizing the positive impact of prior knowledge on understanding and interest. Targeted educational interventions are needed to address awareness gaps, especially concerning the influence of breastfeeding on infant gut microbiota. Healthcare providers have the potential to enhance women's knowledge and awareness of this topic.

Fathers are known to impact breastfeeding outcomes. We aimed to explore paternal knowledge and attitude toward breastfeeding, and possible association with breastfeeding rates at discharge. In this cross-sectional study, we enrolled 200 fathers of healthy term neonates. At discharge, fathers were asked to rate their degree of agreement to 12 items on a 5-point Likert scale. A total score was obtained from their answers. Univariate binary logistic regression analysis was used to verify if the total score was predictive of exclusive breastfeeding at discharge. A multivariable logistic regression model was then used to adjust for possible confounders. ROC analysis was performed, and a Youden’s total score cut-off value was determined to define total score’s performance in predicting exclusive breastfeeding at discharge. Fathers showed a solid knowledge of maternal (87%) and neonatal (98%) benefits of breastfeeding, skin-to-skin (99.5%), rooming-in (79%), and responsive feeding (67.5%); conversely, only 51% knew about the recommended use of pacifiers. Fathers felt personally involved in babies’ feeding in 79% of cases. An association was found between total score and exclusive breastfeeding at discharge at univariate (OR: 1.07, p = 0.04) but not at multivariable analysis (OR: 1.07, p = 0.067). ROC analysis was not statistically significant (AUC 0.58, p = 0.083).Conclusion: By using a novel instrument aimed at quantifying fathers’ knowledge and overall attitude toward breastfeeding, this study underlines the importance of including fathers in the promotion of breastfeeding. Expanding the classic mother-baby dyad to a more modern mother-father-baby triad may impact breastfeeding outcomes at discharge.What is known:• Social support plays a major role in improving breastfeeding outcomes.• Fathers may greatly influence initiation and duration of breastfeeding; the more they know, the more helpful they can be.What is new:• A multidisciplinary team created a structured questionnaire aimed at quantifying fathers’ knowledge and attitude toward breastfeeding.• The association between a higher questionnaire total score and exclusive breastfeeding rates at discharge highlights the importance of including fathers in the promotion of breastfeeding, as part of the breastfeeding team.

Human breast milk not only has nutritional properties but also holds a functional role. It contains various bioactive factors (lactoferrin, lysozyme, leukocytes, immunoglobulins, cytokines, hormones, human milk oligosaccharides, microbiome, microRNAs and stem cells) shown to contribute to several short- and long-term health outcomes. Some of these factors appear to be involved in the infant’s neuro-cognitive development, anti-oncogenic processes, cellular communication and differentiation. Furthermore, breast milk is increasingly recognized to have dynamic characteristics and to play a fundamental role in the cross-talking mother-neonate. This narrative review aims to provide a summary and an update on these bioactive substances, exploring their functions mainly on immunomodulation, microbiome and virome development. Although the knowledge about breast milk potentiality has significantly improved, leading to discovering unexpected functions, the exact mechanisms with which breast milk exercises its bioactivity have not been completely clarified. This can represent a fertile ground for exploring and understanding the complexity behind these functional elements to develop new therapeutic strategies.

Background The use of video games in rehabilitation settings is gaining increasing popularity. However, the lack of commercial video games suitable for children with disabilities and the disappointing user experience of serious games limit their applicability. The aim of this study was to assess the usability, acceptability and user experience of GiocAbile, an active video game for children with cerebral palsy (CP). Methods This multicenter pilot observational study was conducted from May to September 2022 at the participating institutions, and enrolled school-aged children affected by CP. Enrolled children played GiocAbile in single-player mode for one hour. The gaming experience was evaluated through self-assessment questionnaires. Non-parametric correlation analysis was conducted to examine the influence of motor and cognitive abilities (GMFCS, MACS, ICF) on declared usability and acceptability. Results Nineteen children (9.01 ± 1.95 years, 63.1% male) with mild to severe CP were enrolled. The 100% of respondents expressed satisfaction and fulfillment associated with gameplay, with no reports of frustration or disappointment. The 83% would recommend the game to a friend. The controllers were generally deemed easy to use and maneuver, with very few reports of discomfort associated with their use. No correlations were found between usability/acceptability levels and measures of impairment (i.e., GMFCS, MACS, and ICF scales), while cognitive impairment positively correlated with satisfaction during gameplay. Conclusions GiocAbile is an accessible, user-friendly and enjoyable tool for children with CP, regardless of level of impairment. Based on existing literature, we hypothesize that GiocAbile may improve motivation, participation, and rehabilitation outcomes in children with CP, although further studies are needed to confirm our hypothesis.

Background CHARGE syndrome (CS) is an autosomal dominant genetic condition whose recognition in the neonatal period is complicated by considerable phenotypic variability. Pediatric patients with genetic disorders have a known high incidence of hypoglycemia, due to many concurring factors. To date, neonatal hypoglycemia is a feature poorly explored in the literature associated with CS. This paper adds to the existing literature on hypoglycemia in CS and provides a brief review of the mechanisms through which CS, as well as the main genetic syndromes associated with neonatal hypoglycemia, may determine it. Case presentation The patient was a term newborn, first-born daughter to non-consanguineous parents. At birth, axial hypotonia with slight hypertonia of the limbs, and dysplastic auricles were noted. The incidental finding of asymptomatic hypoglycemia led to the initiation of glucose infusion on the II day of life, continued for a total of 8 days (maximum infusion rate: 8 mg/kg/min). In-depth endocrinological examinations showed poor cortisol response to the hypoglycemic stimulus, with normal GH values, thyroid function and ACTH. In view of the suspected hypoadrenalism, oral hydrocortisone therapy was initiated. Inappropriately low values of plasmatic and urinary ketones supported the hypothesis of concomitant transient hyperinsulinism, not requiring therapy. A brain MRI was performed, documenting thinning of the optic nerves, non-displayable olfactory bulbs and dysmorphic corpus callosum. An eye examination revealed bilateral chorioretinal coloboma. Temporal bone CT scan showed absence of the semicircular canals. The unexpected findings of coloboma and absence of semicircular canals led to the suspicion of CS, later confirmed by the molecular analysis of CHD7. Conclusions It seems important to consider CS in the differential diagnosis of persistent hypoglycemia in newborns with specific anomalies. At the same time, it is advisable to consider the risk of hypoglycemia in children with CS, as well as other genetic syndromes. Awareness of the many possible causes of hypoglycemia in newborns with genetic conditions may help steer the investigations, allowing for an appropriate and timely treatment.

Background Pallister-Hall syndrome (OMIM #146510) is a rare autosomal dominant condition caused by a mutation in the GLI3 gene. The cardinal feature of Pallister-Hall syndrome is the presence of hypothalamic hamartomas, which may manifest with seizures, panhypopituitarism and visual impairment. In Pallister-Hall syndrome, dysplastic histogenetic processes responsible for hypothalamic hamartomas are thought to disrupt early craniofacial development. The clinical presentation of Pallister-Hall syndrome may include: characteristic facies (low-set and posteriorly angulated ears, short nose with flat nasal bridge), cleft palate and uvula, bifid epiglottis and laryngotracheal cleft, limb anomalies (e.g., polysyndactyly, short limbs and nail dysplasia), anal atresia, genitourinary abnormalities and congenital heart defects. Case presentation We report the case of two monochorionic diamniotic twins diagnosed with Pallister-Hall syndrome during the neonatal period, after the identification of a hypothalamic hamartoma on day 1 by cerebral ultrasound scan, later confirmed by brain magnetic resonance imaging. Cerebral ultrasound and magnetic resonance imaging presentations were identical in both twins. Discussion and conclusions We review previously published cases (four reports) of hypothalamic hamartomas identified via cerebral ultrasound and compare reported ultrasonographic features. Main differential diagnoses based on cerebral ultrasound findings are discussed. Full description of typical magnetic resonance imaging appearance is also provided. This is the first case reported in the literature of monochorionic diamniotic twins affected by genetically confirmed Pallister-Hall syndrome with identical hypothalamic hamartomas at cerebral ultrasound and magnetic resonance imaging. Moreover, this paper adds to the existing literature on the sonographic appearance of hypothalamic hamartomas. Considering the consistency in hypothalamic hamartomas’ sonographic appearance, we support the use of cerebral ultrasound as a first-line neuroimaging modality in case of clinical suspicion of Pallister-Hall syndrome. Graphical Abstract

Neonates undergoing major gastrointestinal surgery for congenital or acquired disorders require complex nutritional management to support their growth and recovery. Prolonged fasting can be detrimental, necessitating timely and appropriate nutritional support. This joint position paper by the Italian Society of Neonatology, the Italian Society of Pediatric Surgery, and the Italian Society of Pediatric Nutrition aims to provide evidence-based suggestions for the nutritional care of these vulnerable infants, addressing the lack of robust randomized controlled trials in this field through expert opinion. A panel of experts in neonatology, paediatric surgery, and paediatric nutrition across Italy reviewed the literature by searching the PubMed database (1990- September 2024) using specific keywords. English-language papers were analysed without restrictions on study design or outcomes. Identified references were cross-checked, and additional relevant literature was included based on expert knowledge. The panel formulated suggestions based on the available evidence and clinical expertise. The position paper provides specific suggestions for various aspects of nutritional management, including the timing and modalities of enteral nutrition (EN), the choice of milk (prioritizing human milk), vitamin and trace element supplementation, and condition-specific guidance for gastrointestinal disorders such as oesophageal atresia, congenital diaphragmatic hernia, chylothorax, intestinal atresia, abdominal wall defects, Hirschsprung disease, necrotizing enterocolitis, and intestinal failure. Early EN (within 48 hours post-surgery) is generally advised and then tailored according to feeding tolerance. The paper also emphasizes the importance of monitoring micronutrient deficiencies and promoting oral feeding skills. This joint position paper offers a comprehensive and multidisciplinary approach to the nutritional management of neonates undergoing major gastrointestinal surgery. Recognizing the limitations of current evidence, these suggestions aim to standardise and optimise nutritional care, based on available data and expert consensus, ultimately improving outcomes for this high-risk population. The paper highlights the need for individualised nutritional strategies, careful monitoring, and further research in this challenging area of neonatal care.

We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff–Parkinson–White syndrome. Whole‐exome sequencing showed a pathogenic variant in the NRAS gene, but no mutations were found in PI3K/AKT/mTOR pathway genes. This report expands the phenotypic spectrum of Noonan syndrome, because it is the first Italian case carrying a pathogenic variant in the NRAS gene associated with megalencephaly and overgrowth, without any anomaly in the PI3K/AKT/mTOR pathway.