Background The lives of many children and adolescents are today increasingly influenced by new technological devices, including smartphones. The coronavirus disease 2019 (COVID-19) pandemic occurred in a time of outstanding scientific progress and global digitalization. Young people had relevant adverse psychological and behavioral effects due to the COVID-19 pandemic, mainly related to infection control measures, which led them to spend more time at home and with major use of technological tools. The goal this study proposes is to evaluate health and social outcomes of smartphone overuse among Italian children and adolescents during the COVID-19 pandemic, analyzing patterns and aims of utilization, as well as the eventual presence and degree of addiction. Methods This study was based on a self-report and anonymous questionnaire, which was administered to 184 Italian school-age (6–18 years) children and adolescents during the second wave of the COVID-19 pandemic. The test was electronically (email, whatsapp) explained and sent by pediatricians either directly to older children (middle and high school), or indirectly, through the help of teachers, to younger ones (primary school). All participants spontaneously and voluntarily joined the present study. The survey was made by 4 sections, and designed to know and outline modalities (frequency, patterns and aims) of smartphone use, adverse outcomes, and related parental behaviors, also in order to reveal the eventual occurrence and degree of addiction. The same information, related to the pre-epidemic period, was also investigated and analyzed. Results The data obtained revealed a significantly greater adhesion to the questionnaire by females, likely reflecting higher attention and interest than boys to initiatives relating to health education. Our study showed more frequent smartphone use among Italian children and adolescents during the COVID-19 pandemic, compared to the pre-epidemic period. This may be related to the social distancing measures adopted during the months under investigation. The present survey also outlined the changing patterns and aims in the use of smartphones among young people, which allowed to limit some effects of the crisis. Indeed, they were used for human connection, learning and entertainment, providing psychological and social support. Finally, it was observed a significant increase of overuse and addiction. This led to many clinical (sleep, ocular and musculoskeletal disorders), psychological (distraction, mood modification, loss of interest) and social (superficial approach to learning, isolation) unfavorable outcomes. Conclusions Pediatricians and health care professionals should be aware of the potential risks related to inappropriate use of smartphones. They should monitor, in cooperation with parents, possible associated adverse effects, in order to early recognize signs and symptoms suggestive, or at high risk, for addiction. They must carry out, as well, the necessary interventions to prevent and/or lower the detrimental impact of smartphone overuse on children and adolescents’ health, oriented to sustain adequate physical and psychological development as well as social relationships.

Severe infections represent the main cause of neonatal mortality accounting for more than one million neonatal deaths worldwide every year. Antibiotics are the most commonly prescribed medications in neonatal intensive care units (NICUs) and in industrialized countries about 1% of neonates are exposed to antibiotic therapy. Sepsis has often nonspecific signs and symptoms and empiric antimicrobial therapy is promptly initiated in high risk of sepsis or symptomatic infants. However continued use of empiric broad-spectrum antibiotic treatment in the setting of negative cultures especially in preterm infants may not be harmless.The benefits of antibiotic therapy when indicated are clearly enormous, but the continued use of antibiotics without any microbiological justification is dangerous and only leads to adverse events. The purpose of this review is to highlight the inappropriate use of antibiotics in the NICUs, to exam the impact of antibiotic treatment in preterm infants with negative cultures and to summarize existing knowledge regarding the appropriate choice of antimicrobial agents and optimal duration of therapy in neonates with suspected or culture-proven sepsis in order to prevent serious consequences.

BackgroundThe lives of many children and adolescents are today increasingly influenced by new technological devices, including smartphones. The coronavirus disease 2019 (COVID‑19) pandemic occurred in a time of outstanding scientific progress and global digitalization. Young people had relevant adverse psychological and behavioral effects due to the COVID-19 pandemic, mainly related to infection control measures, which led them to spend more time at home and with major use of technological tools. The goal this study proposes is to evaluate health and social outcomes of smartphone overuse among Italian children and adolescents during the COVID-19 pandemic, analyzing patterns and aims of utilization, as well as the eventual presence and degree of addiction.MethodsThis study was based on a self-report and anonymous questionnaire, which was administered to 184 Italian school-age (6-18 years) children and adolescents during the second wave of the COVID-19 pandemic. The test was electronically (email, whatsapp) explained and sent by pediatricians either directly to older children (middle and high school), or indirectly, through the help of teachers, to younger ones (primary school). All participants spontaneously and voluntarily joined the present study. The survey was made by 4 sections, and designed to know and outline modalities (frequency, patterns and aims) of smartphone use, adverse outcomes, and related parental behaviors, also in order to reveal the eventual occurrence and degree of addiction. The same information, related to the pre-epidemic period, was also investigated and analyzed.ResultsThe data obtained revealed a significantly greater adhesion to the questionnaire by females, likely reflecting higher attention and interest than boys to initiatives relating to health education. Our study showed more frequent smartphone use among Italian children and adolescents during the COVID-19 pandemic, compared to the pre-epidemic period. This may be related to the social distancing measures adopted during the months under investigation. The present survey also outlined the changing patterns and aims in the use of smartphones among young people, which allowed to limit some effects of the crisis. Indeed, they were used for human connection, learning and entertainment, providing psychological and social support. Finally, it was observed a significant increase of overuse and addiction. This led to many clinical (sleep, ocular and musculoskeletal disorders), psychological (distraction, mood modification, loss of interest) and social (superficial approach to learning, isolation) unfavorable outcomes.ConclusionsPediatricians and health care professionals should be aware of the potential risks related to inappropriate use of smartphones. They should monitor, in cooperation with parents, possible associated adverse effects, in order to early recognize signs and symptoms suggestive, or at high risk, for addiction. They must carry out, as well, the necessary interventions to prevent and/or lower the detrimental impact of smartphone overuse on children and adolescents’ health, oriented to sustain adequate physical and psychological development as well as social relationships.

Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of communication of diagnosis is low. Poor communication may have short and long-term negative effects on health and psychological and social development of the child and his family. We draw up recommendations on this issue, shared by 6 Italian Scientific Societies and 4 Parents’ Associations, aimed at making the neonatologist’s task easier at the difficult time of communication to parents of a genetic disease/malformation syndrome diagnosis for their child. Methods We used the method of the consensus paper. A multidisciplinary panel of experts was first established, based on the clinical and scientific sharing of the thematic area of present recommendations. They were suggested by the Boards of the six Scientific Societies that joined the initiative: Italian Societies of Pediatrics, Neonatology, Human Genetics, Perinatal Medicine, Obstetric and Gynecological Ultrasound and Biophysical Methodologies, and Pediatric Genetic Diseases and Congenital Disabilities. To obtain a deeper and global vision of the communication process, and to reach a better clinical management of patients and their families, representatives of four Parents’ Associations were also recruited: Italian Association of Down People, Cornelia de Lange National Volunteer Association, Italian Federation of Rare Diseases, and Williams Syndrome People Association. They worked from September 2019 to November 2020 to achieve a consensus on the recommendations for the communication of a new diagnosis of genetic disease. Results The consensus of experts drafted a final document defining the recommendations, for the neonatologist and/or the pediatrician working in a fist level birthing center, on the first communication of genetic disease or malformation syndrome diagnosis. Although there is no universal communication technique to make the informative process effective, we tried to identify a few relevant strategic principles that the neonatologist/pediatrician may use in the relationship with the family. We also summarized basic principles and significant aspects relating to the modalities of interaction with families in a table, in order to create an easy tool for the neonatologist to be applied in the daily care practice. We finally obtained an intersociety document, now published on the websites of the Scientific Societies involved. Conclusions The neonatologist/pediatrician is often the first to observe complex syndromic pictures, not always identified before birth, although today more frequently prenatally diagnosed. It is necessary for him to know the aspects of genetic diseases related to communication and bioethics, as well as the biological and clinical ones, which together outline the cornerstones of the multidisciplinary care of these patients. This consensus provide practical recommendations on how to make the first communication of a genetic disease /malformation syndrome diagnosis. The proposed goal is to make easier the informative process, and to implement the best practices in the relationship with the family. A better doctor-patient/family interaction may improve health outcomes of the child and his family, as well as reduce legal disputes with parents and the phenomenon of defensive medicine.

Background17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population.Case presentationWe hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five café-au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases.ConclusionsThe present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome.

Infant formulas are the only suitable substitute for human milk. The most common infant formulas are standard formulas based on cow's milk. In addition, there are formulas for infants showing signs and symptoms of intolerance and for clinical conditions such as allergy, prematurity, and gastrointestinal diseases. A comprehensive review of the literature was made to review the composition of standard and specialized infant formulas and analyze indications for use, real or presumed nutrition differences and properties, and impact on infant growth. A brief consideration on costs is outlined for each formula. Over the past few years, industrial production and advertising of infant formulas have increased. Human milk still remains the most complete source of nutrition for infants and should be continued according to the current recommendations. Few differences exist between infant formulas, both for the nutrition action and the macronutrient/micronutrient composition. Specialized infant formulas have limited indications for use and high costs. The role of the pediatrician is crucial in the management of infant nutrition, promotion of breastfeeding, and prescribing of specialized formulas only in specific clinical conditions.

BackgroundThe aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features.MethodsThe preliminary group collected 168 subjects with clinical suspicion of NF1. They were evaluated following the National Institutes of Health (NIH) criteria for NF1, revised by Gutmann et al. 1997, integrated for 67 of them by molecular testing. According to these references, 112 of 168 patients were diagnosed as NF1. The sample was characterized by an equal sex ratio (57 males, 55 females) and age distribution ranging from 10 days to 60 years of age (mean age, 13 years).ResultsA wide spectrum of clinical features has been observed in our patients. Mutational analysis resulted positive in 51 cases (76%). Twenty-four mutations detected in our cohort have not been reported to date.ConclusionsThis study may contribute to a better definition of genotypic and phenotypic features of NF1 patients, with respect to further insights into the clinical characterization of the disease. In addition, an amplification of the spectrum of mutations in the NF1 gene has been documented.

Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia. Patient presentation We report a female Italian (Sicilian) child, born preterm at 35 weeks gestation, with persistent hypoglycemia. Peculiar facial dysmorphisms, neonatal hypotonia, and cerebellar vermis hypoplasia raised suspicion of Kabuki syndrome. Hyperinsulinemic hypoglycemia was confirmed with glucagon test and whole-exome sequencing (WES) found a novel heterozygous splicing-site mutation (c.674-1G > A) in KMT2D gene. Hyperinsulinemic hypoglycemia was successfully treated with diazoxide. At 3 months corrected age for prematurity, a mild global neurodevelopmental delay, postnatal weight and occipitofrontal circumference growth failure were reported. Conclusions Kabuki syndrome should be considered when facing neonatal persistent hypoglycemia. Diazoxide may help to improve hyperinsulinemic hypoglycemia. A multidisciplinary and individualized follow-up should be carried out for early diagnosis and treatment of severe pathological associated conditions.