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Abstract Vaccine is an important and effective tool to protect from preventable infectious diseases. Neverthless, in the COVID-19 pandemic era, scientific and accurate information are required to responde to false and misleading information on efficacy and safety of immunization in the pediatric age.

Autism diagnostic practices among school and clinical psychologists, particularly those using the Autism Diagnostic Observation Schedule (ADOS), were examined using national survey results (N = 132). School and clinical psychologists were similar in following the Best Practice Guidelines for screening, diagnosis and assessment. School psychologists were more likely to include a school or home observation and teacher report than clinical psychologists but evaluated significantly fewer children with autism spectrum disorders per year compared to clinical psychologists. School psychologists who were ADOS users were more likely to consider themselves autism experts and include a review of records than ADOS non-users. Perceived advantages of the ADOS included its strength in capturing ASD-specific behaviors and the standardized structure provided for observation, while diagnostic discrimination and required resources were the most commonly identified disadvantages. (Contains 2 figures.)

Abstract Background Due to novel coronavirus infection emergency, restricting measures have been imposed in Italy. As well as adults, also children are limited in their daily routine. Main text As the lockdown period is expected to end on 3rd May 2020, we discuss the opportunity for children to practice safely recreational or physical activity outdoor. Conclusion The Italian Paediatric Society recommends specific recreational and physical activities according to the age of the children and respecting social distancing.

We report the enantiospecific total synthesis of (+)-tubingensin A. Our synthesis features an aryne cyclization to efficiently introduce the vicinal quaternary stereocenters of the natural product and proceeds in only nine steps (longest linear sequence) from known compounds.

The human PLAA gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few families carrying biallelic PLAA variants were reported with progressive neurodegeneration, consequences of monoallelic PLAA variants have not been elucidated. Using exome or genome sequencing we identified PLAA de-novo missense variants, affecting conserved residues within the PUL domain, in children affected with neurodevelopmental disorders (NDDs), including psychomotor regression, intellectual disability (ID) and autism spectrum disorders (ASDs). Computational and in-vitro studies of the identified variants revealed abnormal chain arrangements at C-terminal and reduced PLAA-p97/VCP interaction, respectively. These findings expand both allelic and phenotypic heterogeneity associated to PLAA-related neurological disorders, highlighting perturbed vesicle recycling as a potential disease mechanism in NDDs due to genetic defects of PLAA. [ABSTRACT FROM AUTHOR]

Abstract Background 17q11.2 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 presentation We 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. Conclusions The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome.

Abstract Background The use of media device, such as smartphone and tablet, is currently increasing, especially among the youngest. Adolescents spend more and more time with their smartphones consulting social media, mainly Facebook, Instagram and Twitter because. Adolescents often feel the necessity to use a media device as a means to construct a social identity and express themselves. For some children, smartphone ownership starts even sooner as young as 7 yrs, according to internet safety experts. Material and methods We analyzed the evidence on media use and its consequences in adolescence. Results In literature, smartphones and tablets use may negatively influences the psychophysical development of the adolescent, such as learning, sleep and sigh. Moreover, obesity, distraction, addiction, cyberbullism and Hikikomori phenomena are described in adolescents who use media device too frequently. The Italian Pediatric Society provide action-oriented recommendations for families and clinicians to avoid negative outcomes. Conclusions Both parents and clinicians should be aware of the widespread phenomenon of media device use among adolescents and try to avoid psychophysical consequences on the youngest.

Abstract Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, secondary to mutation of MEFV gene, and typically expressed with recurrent attacks of fever, serositis, rash, aphthous changes in lips and/or oral mucosa. Kawasaki Disease, an acute systemic vasculitis with persistent fever (5 or more days), rash, stomatitis, conjunctivitis, lymphadenopathy, changes in extremities, is currently considered a multifactorial autoinflammatory disease. An infection, as Epstein Barr virus, can be the trigger of Kawasaki Disease. Case presentation We describe the clinical case of a 3-year-old boy with Kawasaki disease. Successfully treated with intravenous immune globulin, acetyl salicylate acid, he late developed anaemia and thrombocytopenia. The Epstein-Barr virus infection has been demonstrated and he showed a resolution of the clinical manifestations of Kawasaki disease with the persistence of coronaritis, without aneurisms. However, for the personal and familial history of monthly recurrent attacks of fever, pharyngitis, abdominal pain, the genetic study of MEFV was performed and demonstrated 3 heterozygous mutations of MEFV (E148Q, P369S, R408Q). Conclusions Mutations of MEFV can contribute to increase inflammatory expression in other diseases, as Kawasaki disease.

Abstract This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. Many studies have informed on epidemiologic observations. Promising outcomes in prevention, diagnosis and treatment have been reported. We think that advances realized in 2018 can now be utilized to ameliorate patient care.

Abstract Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, typically characterized by recurrent attacks of fever, serositis, aphthous of oral mucosa, erythema. “Pyogenic arthritis, pyoderma gangrenosum and acne syndrome” is a rare autoinflammatory disease with variable expression and typically involving joints and skin. Both the diseases are linked by the overproduction of IL-1. Case presentation We report on the case of two siblings affected by recurrent attacks of fever, oral aphthous stomatitis, abdominal pain, arthritis, undefined dermatitis at the hands, associated with increased AST, ALT, C-reactive protein, erythrocyte sedimentation rate, serum amyloid A, leucocytosis with neutrophilia. Infectious diseases were excluded. The genetic study for Familial Mediterranean Fever, tumor necrosis factor receptor-associated periodic syndrome, Mevalonate kinase deficiency, showed the homozygous mutation p.M680I of exon 10 in MEFV. Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain. Both the patients started colchicine, with an improvement in clinical manifestations and a reduction of serum amyloid A. For the atypical dermatologic signs present in the two siblings and in the father, the study of other autoinflammatory syndromes was performed with next generation sequencing and showed the heterozygous rare missense mutation of unknown significance: p.(Val408Ile) of PSTPIP1 gene in the two siblings and in the mother, the father was negative. Canakinumab treatment was started in the younger patient, with the resolution of the clinical symptoms and the normalization of serum amyloid A. Conclusions Further studies are needed to better describe the correlation between genotype and phenotype in patients with PAPA syndrome and with PAPA syndrome associated with FMF, considering that the presence of mutations in both genes may amplify clinical presentation and evolution of both diseases.

Abstract The aim of this guidance is to provide recommendations to clinicians and other interested parties on chronic urticaria in children. The Italian Society for Pediatrics (SIP), the Italian Society for Allergy and Immunology (SIAIP), the Italian Society for Pediatric dermatology (SIDerP) convened a multidisciplinary panel that prepared clinical guidelines for diagnosis and management of chronic urticaria in childhood. Key questions on epidemiology, natural history, diagnosis, and management were developed. The literature was systematically searched and evaluated, recommendations were rated and algorithms for diagnosis and treatment were developed. The recommendations focus on identification of diseases and comorbidities, strategies to recognize triggering factors, improvement of treatment by individualized care.

Abstract Background Functional Pain (not detectable organic cause) is often associated with psychological problems and, according to literature, it can lead to severe manifestations. The purpose of the study was to investigate the correlation between functional pain and psychological disagreement, in a series of school students. Methods An observational questionnaire-based study was performed. A questionnaire was given to a group of students of primary school; the following data were collected in the questionnaire: a) sex and age; b) functional pain; c) relation with relatives, teachers and schoolfellows: d) school failure. Statistical methods: P-value of concordance test and P-value of correlation have been performed with MINITAB 15.1 software. Results Eight hundred nine students, 354 females, 455 males, median age 14 years, participated to the study. Functional Pain was referred from 537/809 students (66%): 265 Females, 272 males: p = 0.155. The difference between the number of pain episodes in females vs. males was statistically significant (p = 0,511), as pain intensity vs. the number of episodes in females (p = 0.001). The most frequent location of pain was abdomen in females, limbs in males. Psychological disagreement was referred from 513/809 students (63%) (260 females; 253 males: p = 0,150). Psychological disagreement was reported with parents (19); siblings (22); other relatives (18); teachers: 42, schoolfellows: 366, relatives as well as school fellows: 46. The correlation between disagreement and functional pain in all the students included in the study was statistically significant (p

Abstract Lung function impairment is common in Congenital Diaphragmatic Hernia (CDH) survivors. The aim of this study was to evaluate, in children who underwent CDH surgical repair, mid and long-term consequences on respiratory impedance, investigating the impact of CDH on both resistance and reactance parameters, as well as bronchodilator response. Forced Oscillation Technique (FOT) parameters were collected from 12 patients (2–11 years). Resistance and reactance values at 8 Hz (Rrs8, Xrs8) and the area under the reactance curve (AX) were measured pre and post-salbutamol. Quantitative variables were compared using Mann-Whitney U test. Differences of categorical variables were evaluated using Fisher exact test. Statistically significant differences between measured and predicted values for Rrs8 (p = 0.04), Xrs8 (p = 0.02) and AX (p = 0.01) were found. When stratifying for age, significant difference between measured and predicted values was observed only in children

Abstract Violence against children includes all forms of violence against people under 18 years old whether perpetrated by parents or other caregivers, peers, partners, teacher or strangers. This is a public health, human rights, and social problem: levels of violence against children are frightfully high and it is estimated that up to 1 billion children aged 2–17 years, have experienced a type of violence. Very few studies provided physical violence perpetrated at school but it can have a physical impact, causing psychological distress, permanent physical disability and long-term physical or mental ill-health. Children who experienced any type of violence at school may develop reactive attachment disorder, modest physical inactivity, overweight or obesity, diabetes, smoking habits, heavy alcohol use, poor self-rated health, cancer, heart disease, and respiratory disease and other negative outcomes. Evidence from international studies clearly shows that nonviolent, positive discipline delivers better results, while any type of violence is associated with many negative one.

Abstract Background Preterm birth is a health and social problem, considered the leading cause of neonatal mortality worldwide. It is associated with higher rates of neurodevelopmental morbidity, sensorineural impairments and other complications. The aim of the study was to describe the incidence and the major risk factors associated with preterm birth. Methods We performed a single center, observational and retrospective Cohort study in the Division of Obstetrics and Gynaecology, University Hospital “G. Martino”, Messina. Clinical records of all pregnant women who delivered from 1st January 2010 to 31 of December 2016 were collected. Results In the 7 years considered, a total of 7954 pregnant women were included in our study. The majority of all preterm births were due to infants born late preterm (71.83%), 26.45% were due to preterm and 1.72% to extremely preterm. The preterm cohort had a higher proportion of history of preterm delivery (p

Abstract Background Vaccine coverage of health care professionals against influenza is still low in Italy, as well as in other European countries. Methods Between March and May 2018, this study was performed to collect the opinions of Pediatric health care professionals, working in emergency departments, regarding the efficacy and safety of the influenza vaccine. An anonymous online survey was employed to evaluate socio-demographic and professional characteristics, knowledges, beliefs and attitudes. Results Five hundred four health care professionals completed the survey: 331 physicians, 140 nurses and 33 other health are professionals. During the 2017–18 season, 55.8% of physicians, 19.3% of nurses and 12.1% of other health care professionals had vaccinated against the influenza virus. Not vaccinated physicians and nurses with less than 40 years of age were fewer than not vaccinated physicians and nurses with more than 40 years of age. Nurses and other health care professionals were less trustworthy of the influenza vaccination, less aware of the possibility of contracting and transmitting influenza and other vaccine-preventable diseases. Conclusions Insufficient adherence to the influenza vaccination in physicians, nurses and other health care professionals is a concern for those assisting high-risk patients, especially in emergency departments. Therefore, it is vital to promote education of health care professionals and students regarding vaccinations. High vaccine coverage should be embedded in the safe hospital paradigm and should become a goal for the hospital's directors.

Abstract Background There are reports of the familial occurrence of Kawasaki disease but only a few reports described Kawasaki disease in siblings. However, the familial cases were not simultaneous. In these patients the idea of infective agents as trigger must be considered. Case presentation We describe two siblings with atypical presentations of Kawasaki disease; the sister was first diagnosed as having parvovirus infection with anemia and the brother was diagnosed as having myocarditis. The first patient was a 9-month-old Caucasian girl with fever, conjunctivitis, rash, and pharyngitis, and later she had cervical adenopathy, diarrhea and vomiting, leukocytosis, and anemia, which were explained by positive immunoglobulin M against parvovirus. However, coronary artery lesions with aneurysms were documented at day 26 after fever onset. An infusion of intravenous immunoglobulin and high doses of steroids were not efficacious to resolve the coronary lesions. She was treated with anakinra, despite a laboratory test not showing inflammation, with prompt and progressive improvement of coronary lesions. Her 7-year-old Caucasian brother presented vomiting and fever at the same time as she was unwell, which spontaneously resolved after 4 days. Four days later, he again presented with fever with abdominal pain, associated with tachypnea, stasis at the pulmonary bases, tachycardia, gallop rhythm, hypotension, secondary anuria, and hepatomegaly. An echocardiogram revealed a severe hypokinesia, with a severe reduction of the ejection fraction (20%). He had an increase of immunoglobulin M anti-parvovirus, tested for the index case of his sister, confirming the suspicion of viral myocarditis. He received dopamine, dobutamine, furosemide plus steroids, with a progressive increase of the ejection fraction to 50%. However, evaluating his sister’s history, the brother showed a myocardial dysfunction secondary to Kawasaki shock syndrome. Conclusions We report on familial Kawasaki disease in two siblings which had the same infectious trigger (a documented parvovirus infection). The brother was diagnosed as having post-viral myocarditis. However, in view of the two different and simultaneous evolutions, the girl showed Kawasaki disease with late coronary artery lesions and aneurysms, whereas the brother showed Kawasaki shock syndrome with myocardial dysfunction. We stress the effectiveness of anakinra in non-responder Kawasaki disease and the efficacy on coronary aneurysms.

Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. Conclusions We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disorder led to respiratory failure during infancy and these pulmonary complications may be the first sign of this disorder. Early recognition with thoracic imaging is important to guide genetic testing, neuroimaging and to define optimal timing of potential therapies, such as lung transplant in progressive lung disease.

Abstract Background A physiologic test for estimating BPD rate has been developed by Walsh and collaborators. Actually there are not standard criteria for weaning from CPAP and/or oxygen therapy the premature babies. Aim of this study was to verify if a physiologic test, modified respect to that developed by Walsh and collaborators for estimating BPD rate, can be used as a clinical tool for weaning the premature babies from CPAP and/or oxygen therapy. Methods Neonates with BW 500–1250 g and GA ≤ 32 weeks, receiving FiO2 ≤ 0.30 by hood or CPAP, were prospectively studied at 28 days of life and at 36 weeks of postmestrual age. The test was performed in 3 steps: baseline, challenge (FiO2 and CPAP reduction to room air) and post test (room air). Monitoring of transcutaneous CO2 was added to SpO2 and the newborns passing the test were left in room air. Results Six of 23 tested babies (26%) passed the challenge at 28 days of life, 4 of 10 tested babies (40%) passed the challenge at 36 weeks. Median values of SpO2 were significantly higher in the neonates passing the test, respect to the failing patients. At the same time median values of TcPCO2 were significantly higher in the latter babies. Conclusion TcPCO2 monitoring appeared to be a new useful parameter for failure prediction of weaning. The test represented a clinical guide because the newborns passing it were left in room air.

Background: Intussusception represents the most common cause of abdominal emergency among young children but nearly 75% of cases are still considered idiopathic. Research design and methods: A case–control study was conducted among Sicilian children aged 0–59 months with a hospital admission for intussusception between 2009 and 2015 to identify factors associated with intussusception onset. Results: Overall, 125 cases and 190 controls were recruited for the study. Birth order (OR 1.49, 95%CI: 1.10, 2.02, P = 0.02) and having had gastroenteritis or having taken antibiotics during the 30 days prior to hospitalization (OR 11.55, 95%CI: 3.23, 41.23, P

Abstract Gambling disorder (GD) is a psychiatric condition and it is characterized by a maladaptive pattern of gambling behavior that persists despite negative consequences in major areas of life functioning. In Italy, CNR (National Research Council) underlined how over 17 million, 42.8% of the population aged 15–64 have a gambling behavior. Among them, there are over one million students, aged 15–19, equal to 44.2% of Italian students; the number of minors in Italy with GD in 2017 was 580,000, equal to 33.6%. Various psychosocial treatment models have been adapted for GD; on the other hand no drug has received regulatory approval in any jurisdiction as a specific psychopharmacological treatment for GD. Family therapy interventions for treatment of substance abuse problems have been adapted for adolescents GD. Given the increasing overall prevalence of adolescent gambling, it is imperative that Pediatricians appreciate that gambling problems can also afflict adolescents. In conclusion underage gambling appears to be associated positively with alcohol, tobacco and other substance use, as well as with other individual behaviors, therefore we need that collaborative efforts between scientific societies, government and stake holders can influence the uptake of research findings necessary to implement social policies and design effective public health intervention options. Educational-based problem gambling prevention programs are important avenues in targeting at-risk behaviors among adolescents to prevent an escalation of problematic behaviors into adulthood.

BackgroundLongitudinal research studies have demonstrated that experienced clinicians using standardized assessment measures can make a reliable diagnosis of autism spectrum disorders (ASDs) in children under age 3. Limited data are available regarding the sensitivity and specificity of these measures in community settings. The aims of this study were to determine how well a standardized diagnostic observational measure (Autism Diagnostic Observation Schedule - ADOS) functions alone, and with a brief parent measure within a community setting when administered by community clinicians.MethodsClinical records for 138 children between the ages of 24 and 36 months of age who were evaluated for possible ASD or social/language concerns at a hospital-based developmental evaluation clinic were examined. Evaluations were conducted by community-based clinical psychologists. Classification results obtained from standardized diagnostic measures were compared with case reviewer diagnosis, by reviewers blind to scores on diagnostic measures, using The Records-based Methodology for ASD Case Definition that was developed by the Metropolitan Atlanta Developmental Disabilities Surveillance Program.ResultsWhen compared with case review diagnosis, the ADOS demonstrated strong sensitivity and specificity for both Autism versus Not Autism and ASD versus Nonspectrum (NS) diagnoses in this young sample. The Social Communication Questionnaire (SCQ), using the lower cutoff of ≥12, had adequate sensitivity when differentiating Autism from Not Autism, but weak sensitivity when differentiating ASD from NS, missing about 80% of the children with pervasive developmental disorder - not otherwise specified. Using either the Modified Checklist for Autism in Toddlers or the SCQ in combination with the ADOS did not result in improved specificity over the ADOS alone and led to a drop in sensitivity when differentiating ASD from NS disorders.ConclusionsThese results demonstrate that following best practice guidelines, the ADOS can be successfully incorporated into clinical practice with relatively good sensitivity and specificity, and worked well with a referred sample of 2-year-olds. A parent questionnaire did not lead to any improvement in diagnostic classification above the ADOS used in isolation.

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.