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Abstract Background Neurodevelopmental disorders have a multifactorial etiology, since biological, genetic, psychosocial and environmental risk factors are involved. Recent studies have been linking neurodevelopmental disorders and intellectual disability with a variety of genes, some of which encoding neuronal cell-adhesion molecules. Among these, KIRREL3 is known to play a role in CNS development, and his variants have recently been related to intellectual disability, autism spectrum disorder, childhood apraxia of speech, cerebellar hypoplasia and mild dysmorphic features. Case presentation In this study, we describe a young Caucasian boy with mild intellectual disability, cerebellar anomalies (cerebellar hypoplasia and mega cisterna magna) and minor dysmorphic features associated to a novel KIRREL3 variant. Conclusions Aim of the present case report is to expand the clinical spectrum of KIRREL3-related diseases towards a milder phenotype than what is already described in the literature. We speculate that the interaction between KIRREL3 and CASK might play a major role in promoting cognitive and cerebellar development, contributing to a variety of clinical manifestations.

Abstract Background Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and therapeutic approach to CVS among Italian tertiary care centers and the differences according to subspecialties, as well as to explore whether potential predictive factors associated with either a poor outcome or a response to a specific treatment. Methods Cross-sectional multicenter web-based survey involving members of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP). Results A total of 67 responses were received and analyzed. Most of the respondent units cared for less than 20 patients. More than half of the patients were referred after 3 to 5 episodes, and a quarter after 5 attacks. We report different diagnostic approaches among Italian clinicians, which was particularly evident when comparing gastroenterologists and neurologists. Moreover, our survey demonstrated a predilection of certain drugs during emetic phase according to specific clinic, which reflects the cultural background of physicians. Conclusion In conclusion, our survey highlights poor consensus amongst clinicians in our country in the diagnosis and the management of children with CVS, raising the need for a national consensus guideline in order to standardize the practice.

Abstract Background West Nile virus (WNV) is a mosquito-borne RNA virus belonging to the Flaviviridae family. Symptomatic infection happens in only about 20% of the cases, while WNV neuroinvasive disease (WNND) is rare and accounts for less than 1%. There is insufficient information about natural history and clinical course in children, because underdiagnosis is common, and reports are scarce. On the other hand, Europe has seen a dramatic increase of WNV infections in the last decades, and the Po valley itself, in Northern Italy, has become an endemic region since 2013. Case presentation We hereby report a case of West-Nile virus neuroinvasive disease in a 12-year-old boy. This is one of the very few cases diagnosed in the Italian pediatric population. The clinical presentation was compatible with acute encephalitis. Diagnosis was made by detection of specific IgM in both serum and cerebrospinal fluid. He finally was discharged with complete recovery, and no neurologic sequelae after a 12-months follow up period. Conclusions Given its non-specific clinical presentation, the diffusion of WNV constitutes a crucial and emerging concern. Even though rare, neuroinvasive WNV infection should always be suspected in pediatric patients, living or traveling in endemic areas, presenting with meningitis, encephalitis or acute flaccid paralysis during the WNV transmission season.

Abstract Background The purpose of this study was to determine headache characteristics, impact on daily activities and medication attitudes among a large sample of adolescents in Italy. Methods Secondary school classes were randomly selected from a national stratified multistage sampling. Data regarding socio-familial factors, headache characteristics, impact on daily activities and medication use were recorded with an anonymous multiple-choice questionnaire. Results The survey involved 2064 adolescents. 1950 questionnaires were considered for analysis. Study population included 944 males (48.4%) and 1006 females (51.6%), aged between 11 and 16 years (mean 13.5 ± 1.87). Headache prevalence was 65.9%. Mean age at headache onset was 8.33 years. 9.8% suffered from headache > 1/week, 14.3% > 1/month, 24.2% monthly and 17.7% less than monthly. The mean duration of a headache episode was less than 30 min in 32.9%, 1 hour in 28.1%, 2 hours in 19.3% and several hours in 19.5%. Pain intensity was moderate in 52.2% and severe in 9.5%. School represented the main trigger factor (67%). Impact on daily activities was noted in 57.5%. 69.2% of adolescents reported the use of pain relievers. Up to 5.7% declared self-medication, while only 20.6% followed a physician’s prescription. Female adolescents experienced headache more frequently (70.2% vs 60%) and more intensely than male peers. Girls had a higher family history of headache, could more frequently identify a trigger factor, and were more affected into their daily activities than boys. Conclusions Population-based studies of headache disorders are important, as they inform needs assessment and underpin service policy for a disease that is a public-health priority. Headache has a high prevalence among adolescents and carries a significant burden in terms of impact on daily activities and use of medication. Furthermore, underdiagnose is common, while trigger factors are often detectable. Special consideration should be given to female adolescents and self-medication attitudes.