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Nontraumatic atlantoaxial subluxation, also known as Grisel syndrome, is a rare disease that usually affects children. The typical presentation is torticollis in patients with a history of surgical operations or airway infections. We describe 5 patients with Grisel syndrome, referring to medical care for a torticollis, a few weeks after an airway infection, with no trauma associated. Radiologic confirmation of the diagnosis, with computed tomography and magnetic resonance imaging studies, was carried out. The patients were treated with external immobilization for 3 months, followed by surgical fixation in the case of recurrence after collar removal or inveterate subluxation. We performed a review of the literature to define the best management of this disease. Management of Grisel syndrome depends on the degree of subluxation basing on the Fielding and Hawkins classification. The initial nonsurgical management consists of close reduction and immobilization. Surgical fixation is indicated in cases of conservative treatment failure. [ABSTRACT FROM AUTHOR]

Abstract Array-based comparative genomic hybridization is a routine technology that helps clinicians in the diagnostic evaluation of individuals presenting with developmental delay or malformation anomalies. With this technique, several patients affected by microdeletion 2p15-p16.1 have been reported and this anomaly has been recognized as a distinct syndrome. In contrast, clinical features of patients with microduplication in the same region have been registered mainly in clinical and genetic data-bases and to date just a single patient has been reported in detail in the literature. A 12-year-old boy with 2p15-p16.1 microduplication presented with moderate neurodevelopment delay, epileptic seizures, behavioral disturbances, and minor dysmorphic features. The role of 2p15-p16.1 duplication in this case, and the others published in data-bases with a similar molecular duplication, are discussed. [ABSTRACT FROM AUTHOR]

Neurocutaneous disorders represent a heterogeneous group of conditions affecting the skin (with pigmentary/vascular abnormalities, hamartomas or tumors) and the central and peripheral nervous systems. In recent years, besides the well-known neurocutaneous diseases (e.g., the different forms of neurofibromatosis, tuberous sclerosis complex, Sturge-Weber syndrome and mosaic pigmentary/hamartomatous disorders), new distinctive syndromes have been characterized, extending our knowledge on the spectrum of these conditions. The concurrent presence of pigmentary abnormalities (both of the hypo- and hyperpigmented type), and primary microcephaly has not been commonly reported. We report on a 4.5-year-old girl with primary microcephaly, who had in addition moderate to severe developmental delay, behavioral and stereotypic abnormalities and a cutaneous pattern of paired hypo- and hyperpigmented lesions variously distributed over the body, particularly on the trunk. Failure to thrive and mild facial dysmorphic features were also present. To our knowledge, this complex malformation (neurocutaneous) phenotype has not been previously reported. [ABSTRACT FROM AUTHOR]

The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome ( ISs ) defines an epileptic syndrome occurring in children younger than 1 year (rarely older than 2 years), with clinical (epileptic: i.e., associated to an epileptiform EEG) spasms usually occurring in clusters whose most characteristic EEG finding is hypsarrhythmia [the spasms are often associated with developmental arrest or regression]. The term West syndrome ( WS ) refers to a form (a subset) of ISs, characterised by the combination of clustered spasms and hypsarrhythmia on an EEG and delayed brain development or regression [currently, it is no longer required that delayed development occur before the onset of spasms]. Less usually, spasms may occur singly rather than in clusters [ infantile spasms single-spasm variant ( ISSV )], hypsarrhythmia can be (incidentally) recorded without any evidence of clinical spasms [ hypsarrhythmia without infantile spasms ( HWIS )] or typical clinical spasms may manifest in absence of hypsarrhythmia [ infantile spasms without hypsarrhythmia (I SW) ]. There is a growing evidence that ISs and related phenotypes may result, besides from acquired events, from disturbances in key genetic pathways of brain development: specifically, in the gene regulatory network of GABAergic forebrain dorsal–ventral development, and abnormalities in molecules expressed at the synapse. Children with these genetic associations also have phenotypes beyond epilepsy, including dysmorphic features, autism, movement disorders and systemic malformations. The prognosis depends on: (a) the cause, which gives origin to the attacks (the complex malformation forms being more severe); (b) the EEG pattern(s); (c) the appearance of seizures prior to the spasms; and (d) the rapid response to treatment. Currently, the first-line treatment includes the adrenocorticotropic hormone ACTH and vigabatrin. In the near future the gold standard could be the development of new therapies that target specific pathways of pathogenesis. In this article we review the past and growing number of clinical, genetic, molecular and therapeutic discoveries on this expanding topic. [ABSTRACT FROM AUTHOR]

Abstract: Ohtahara syndrome or Early Infantile Epileptic Encephalopathy (EIEE) with Suppression-Burst, is the most severe and the earliest developing age-related epileptic encephalopathy. Clinically, the syndrome is characterized by early onset tonic spasms associated with a severe and continuous pattern of burst activity. It is a debilitating and early progressive neurological disorder, resulting in intractable seizures and severe mental retardation. Specific mutations in at least four genes (whose protein products are essential in lower brain’s neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant). A yet unresolved issue involves the relationship between early myoclonic encephalopathy (EME–ErbB4 mutations) versus the EIEE spectrum of disorders. [Copyright &y& Elsevier]

Summary: We report on monozygotic twins with neonatal onset of daily reflex seizures triggered by hot water. Video record during the hot water bathing showed clinical signs consistent with a reflex seizure. The numbers of episodes were markedly reduced when the mother began bathing the children with reduced temperature bath water. At the age of 20 months, the twins developed episodes of paroxysmal disturbances including alternating hemiplegia. These two patients are the youngest reported cases of reflex hot water seizures, and the only reported cases in which reflex hot water seizures subsequently manifested episodes of alternating hemiplegia. [Copyright &y& Elsevier]

Magnetic resonance imaging revealed numerous bilateral gadolinium-enhancing nodules, with perilesional edema and moderate midline shift (Fig A,B). The finding of cerebral aspergillosis lead to screening for the actual cause of her disease, the CGD, a primary phagocyte disorder resulting in increased risk of intracellular catalase-positive microorganism infections. Neuroaspergillosis, Chronic granulomatous disease, Brain, Inflammation, White matter involvement. [Extracted from the article]

Septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often associated with a wide variety of brain malformations of cortical development. Multiple congenital anomalies have been reported only sporadically. Despite recent demonstration of the possible pathogenic role of HESX1/Hesx1 gene (a homeobox gene important for development of prosencephalon), the etiology of most cases of septo-optic dysplasia still remains unclear. This report describes eight children (4 males, 4 females; age 2 to 17 years) with septo-optic dysplasia who manifested dysmorphic features (involving not only the midline facial structures) and a spectrum of additional clinical and imaging features including autism, facial hemangioma, and holoprosencephaly. Full mutational screening for the HESX1 gene in seven of eight children was negative. Based on the extreme variability of the clinical and imaging phenotypes hereby observed, on literature review, and on septo-optic dysplasia animal models, this study confirmed that the phenotypic heterogeneity in septo-optic dysplasia is high. We suggest that: (1) dysmorphic features are more frequent than previously thought—they may represent a relevant part of the phenotype; (2) septo-optic dysplasia should be recategorized as an heterogeneous malformation syndrome (septo-optic dysplasia complex) (encompassing multiple brain, endocrine, and systemic anomalies) rather than a single precisely defined entity. [Copyright &y& Elsevier]

This report describes a proband and his family consisting of 14 patients affected with simple congenital ptosis. Pedigree suggests an autosomal dominant pattern with 70-90% penetrance. The family includes patients with both unilateral and bilateral involvement, and cases with and/or without complex synkinesia. Left unilateral preponderance is striking, and pedigree analysis suggests the possibility of a modifier gene determining laterality. This study represents the first report of a large family with congenital autosomal dominant simple ptosis which demonstrates the full clinical spectrum of this condition. [Copyright &y& Elsevier]

The objective of this study was to assess brain involvement through the presence of antineuronal antibodies in Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus (PANDAS) and in uncomplicated active Group A streptococcal infection. We compared serum antibrain antibody to human basal ganglia sections assessed by indirect tissue immunofluorescence in two groups: a PANDAS group, comprised of 22 patients (mean age 10.1 years; 20 male, 2 female) who met strict National Institutes of Mental Health diagnostic criteria for PANDAS and had clinically active tics or obsessive-compulsive disorder, or both; and a GABHS control group consisting of 22 patients (mean age 9.1 years; 15 mol/L, 7 female) with clinical evidence of active Group A β-hemolytic streptococcal (GABHS) infection confirmed by throat culture and elevated antistreptolysin O titers but without history or clinical evidence of tics or obsessive-compulsive disorder. We observed positive anti–basal ganglia staining (defined as detectable staining at 1:10 serum dilution) in 14/22 patients in the PANDAS group (64%) but only 2/22 (9%) in the GABHS control group (P < 0.001, Fisher''s exact test). These results suggest that antibrain antibodies are present in children with PANDAS that cannot be explained merely by a history of GABHS infection. [Copyright &y& Elsevier]

Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presented in early life bath-induced dystonia, signs of acute encephalopathy at the age of 2 years, hemiplegic spells, and motor dysfunction after the age of 3 years, and in young/adult frequent episodes of headache with drastic reduction of paroxysmal motor attacks. The molecular analysis revealed a known pathogenic variant p.Asn773Ser (rs606231437) in ATP1A3 gene associated with an unusual and moderate AHC-2 phenotype, with mild cognitive impairment and lack of epilepsy. The aim of this study is to analyze the clinical phases of the MZ twins, and to investigate the novel genotype–phenotype correlation. • The pathogenic variant p.Asn773Ser of ATP1A3 gene is associated with the AHC-2. • Long-term follow-up of monozygotic (MZ) twins describes a unique AHC-2 phenotype. • A novel genotype-phenotype correlation is reported for ATP1A3 patients. [ABSTRACT FROM AUTHOR]

Abstract: We describe an infant with cutaneous and leptomeningeal diffuse hemangiomata. Clinical facial anomalies were evident at birth. Routine transfontanellar ultrasonography revealed very diffuse leptomeningeal hemangioma. Magnetic resonance imaging during the first days of age confirmed vascular lesions. The patient was otherwise normal, and was monitored at ages 3.5, 9, and 18 months. Rapid resolution of the hemangioma occurred within 1 year. The infant did not present with persistent embryonic arteries, a posterior fossa, or other malformations typically reported in Pascual-Castroviejo type II syndrome. However, the characteristic skin color, leptomeningeal hemangioma, and rapid involution prompted the diagnosis of Pascual-Castroviejo II syndrome in its wider, benign spectrum. [Copyright &y& Elsevier]

Polyneuritis cranialis is a rare disorder of multiple cranial nerve palsies without spinal cord involvement. The case reported is of a 10-year-old boy with multiple palsies involving cranial nerves III, IV, V, VI, VII, IX, X, XI, and XII cranial nerves, unilaterally or bilaterally. After initial, unsuccessful treatment, corticosteroids and acyclovir were administered. The patient dramatically improved after two cycles of intravenous immunoglobulins. He was left with a mild residual left VI nerve deficit, which fully remitted after 2 months. [Copyright &y& Elsevier]

• First case of 7q31.32 duplication showing dysmorphic anomalies and neurologic impairment including ASD and seizures. • The child shows: dysmorphism, autistic spectrum disorder, intellectual disability, epilepsy. • A table of the previous larger similar duplication reported in the literature are presented. Duplication of long arm of chromosome 7(q) is uncommon. It may occur as "pure", isolated anomaly or in association with other mutations involving the same or other chromosomes. "Pure" chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Attempts to correlate genotype with phenotype in each group has yielded questionable results even though intellective disability and minor dysmorphic features of variable types are typically seen. In a young boy showing minor facial dysmorphism, language delay, autistic spectrum disorder, epileptic seizures, behavioral disturbances and irritability an array-CGH analysis was carried out. Array-CGH analysis found in the proband a de novo variant of partial duplication of 7q31.32 (122.254.792–122.376.908). A very few cases of partial 7q duplication have been reported thus far mainly presenting with clinical signs of dysmorphic features, large head, developmental delay, epileptic seizures and skeletal anomalies. To our knowledge, this is the first report of a case of a de novo variant of 7q31.32 duplication, showing dysmorphic anomalies and neurologic impairment including ASD and seizures. In the 7q31.32 region is located the gene CADPS2 , which has been associated to autistic spectrum disorder and other neurologic disorders. In the child, a genotype-phenotype correlation may be hypothesized. Further similar reports may be useful to confirm this observation. [ABSTRACT FROM AUTHOR]

Background: Ocular paroxysmal events can accompany a variety of neurological disorders. Particularly in infants, ocular paroxysmal events often represent a diagnostic challenge. Distinguishing between epileptic and nonepileptic events or between physiological and pathologic paroxysmal events can be challenging at this age because the clinical evaluation and physical examination are often limited. Continuous polygraphic video-electroencephalography (EEG) monitoring can be helpful in these situations.Methods: We review ocular paroxysmal events in newborns and infants. The aim is to improve clinical recognition of ocular paroxysmal events and provide a guide to further management. Using the PubMed database, we identified studies focused on all ocular motor paroxysmal events in neonates and infants.Results: Fifty-eight articles were selected on the topic. We summarized and divided these studies into those describing nonepileptic and epileptic ocular paroxysmal events.Conclusions: The diagnosis of ocular paroxysmal events can be difficult, but their recognition is important because of the variety of underlying etiologies. The distinction between epileptic versus nonepileptic ocular paroxysmal events often often requires polygraphic video-EEG to identify the epileptic events. For nonepileptic events, further testing can characterize pathologic ocular movements. To determine the etiology and prognosis of ocular paroxysmal events, a multimodal approach is required, including a thorough full history and clinical examination, polygraphic video-EEG monitoring, neuroimaging, and a careful follow-up plan. [ABSTRACT FROM AUTHOR]

Highlights • Low PFCs concentration in children living in Sicily. • PFSO concentration is higher in girls. • Maternal parity is significantly associated with PFDA and PFHxS. • Months of breastfeeding is significantly correlated with PFUnDA. Abstract Perfluorinated compounds (PFCs) are a large group of man-made chemicals characterized by a completely fluorinated hydrophobic linear carbon chain attached to a hydrophilic head. The presence of PFCs has been related with various adverse effects on several organs and systems. 61 children (6–11 years of age) living in Sicily underwent medical examination and blood and urine routinary tests, as well as the serum concentration of 16 PFCs. These compounds (∑PFCs = 5.888 ng/mL, range 1.035–12.94 ng/mL) were widely detected in the samples of all children, showing that they had been extensively exposed to PFCs, especially perfluorooctane sulfonate (PFOS), perfluorooctanoic acid (PFOA), perfluorohexanesulfonate (PFHxs) and perfluorodecanoic acid (PFDA). In addition, long-chained PFCs were found in children's blood correlated with short-chained ones. Perfluorodecanoic acid (PFDA) (beta=−0.114) and PFHxS (beta = 0.003) levels were correlated with maternal parity; while the "months of breastfeeding" variable is correlated with perfluoroundecanoic acid (PFUnDA) concentrations (beta = 0.008). Female gender is negatively associated with PFOS (beta = 0.008). The adverse health effects of PFCs on young children should be noted, due to their growing phase. Therefore, further studies are needed to monitor and address adverse health outcomes of PFCs on children, especially those living in industrial regions. [ABSTRACT FROM AUTHOR]

Summary Background Zoonoses are human infectious diseases caused by pathogens that primarily infect animals. Mediterranean Spotted Fever (MSF) represents one such example, affecting the Mediterranean region, in which household animals can be immune-carriers of infected ticks. Materials and methods We retrospectively analysed the incidence and the clinical and laboratory features of MSF caused by R.Conorii in children admitted to the Paediatric Operative Unit from 1987 to 2010, for persistent fever and generalised macular-popular erythematous lesions. Clinical, immunological and serological parameters of 55 cases of Rickettsia infections observed in children between 2 and 11 years of age were collected. Results We found an increasing incidence of MSF in childhood from 1987 to 2010. Diagnosis of MSF at the moment of hospital admission was done in 16 patients (29.09%). The presence of the typical Tache noire was observed in 16 cases out of 55 patients (29.09% of cases). We noticed a different representation of R. conorii antigens in serological testing over the time period of the study, corresponding to overall higher incidence rates for infection in the latter years. We also observed a higher incidence of infection in those years in which all four antigens were found positive at serum testing with respect to those years in which only two of the four antigens were observed (1987-1990: 0-16%; 2007-2010: 0.46%; P<0.005). Conclusions These changes in R. conorii antigenicity may be the cause of higher pathogenicity in this parasite, perhaps linked to increased immigration along with consequent changes in the epidemiology of infectious diseases in host countries. [ABSTRACT FROM AUTHOR]

Summary: Purpose: To describe the clinical and electroencephalographic (EEG) features of reflex myoclonic epilepsy in infancy (RMEI) and long-term cognitive outcome. Methods: We enrolled 31 children from 16 neuropediatric centres in Italy, who underwent clinical and video-EEG evaluation. Cognitive assessment was performed in all patients using standardized psychometric tests. Results: The age at onset ranged from 3 to 24 months of age. Seizures were characterised in all patients by symmetric myoclonic seizures (MS), triggered by sudden unexpected acoustic (38.7%) or tactile stimuli (29%) or both (29%). Spontaneous attacks were reported in 32.2% of the cases. Ictal EEG showed generalized high-amplitude 3Hz polyspike and wave discharges, synchronous with brief rhythmic bursts of electromyographic activity. Patients were re-evaluated after a period of 7.2±5.6 years. The prognosis for seizure control was excellent in all cases and reflex MS disappeared spontaneously or after valproate treatment. The cognitive outcome was excellent in 90.3% of children. Conclusions: RMEI appears to be a variety of idiopathic generalized epilepsy with specific features that occurs in developmentally normal children. [Copyright &y& Elsevier]

Abstract: We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies and craniofacial dysmorphisms, carrying a de novo 0.4 Mb duplication of chromosome region 16p13.3 detected by SNP-array analysis. In addition, myopia, microcephaly and growth retardation were observed. The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene (CREBBP, MIM 600140), whose haploinsufficiency is responsible for the Rubinstein–Taybi syndrome, and the adenylate cyclase 9 gene (ADCY9, MIM 603302). By comparing the clinical manifestations of our patient with those of patients carrying similar rearrangements, we confirmed that 16p13.3 microduplications of the Rubinstein–Taybi region result in a recognizable clinical condition that likely represents a single gene disorder. In addition, our case allowed us to define with more precision the smallest region of overlap (SRO) in all patients reported so far, encompassing only the CREBBP gene, and is useful to confirm and further define the phenotypic characteristics due to duplication of the CREBBP gene, being the first case of interstitial duplication with microcephaly and growth defects reported to date. [Copyright &y& Elsevier]

Dysembryoplastic neuroepithelial tumors (DNETs) are benign intracortical masses that are typically observed in children and young adults and are classified as glioneuronal tumors (WHO grade I). Large and retrospective series of patients with DNETs have been reported, but prospective studies on pediatric cohorts of patients with DNETs have been lacking. In the present study, 13 children (8 boys, 5 girls; age 8-18 years) who had simple (n = 2) or complex (n = 11) partial seizures (seizure duration range, 2-4 years; mean, 1.5 years; mode, 1.2 years) were prospectively enrolled and monitored over 13 years. The DNETs were located in the frontal (n = 2), temporal (n = 9), or occipital (n = 2) cortex. In 11/13 cases, the seizures were resistant to drug therapy, and all the children had surgery consisting of extended lesionectomy coupled with neuronavigation. Pathology examination revealed cortical dysplasia (n = 8), glial nodules (n = 11), calcification (n = 4), cellular atypia (n = 3), endothelial proliferation (n = 1), perivascular inflammation (n = 3), and meningeal involvement (n = 6). All children were seizure free throughout postsurgical follow-up of 2-11 years. This first prospective study with follow-up monitoring of a childhood population with DNETs confirms, on a long-term basis, that the coupled strategy of extended lesionectomy and neuronavigation has good outcome for long-term seizure control. [ABSTRACT FROM AUTHOR]

Summary: Background: Nearly 90–95% of children with drool have physiologic gastroesophageal reflux (GER) that usually resolves by 12–15 months of age; however, 5–10% of children with drool have pathologic GER. Of these children, most recover clinically by 18 months of age without therapy, yet 10% develop chronic, recurrent gastroesophageal reflux disease (GERD) with sequelae. The respiratory symptoms associated with GER consist mainly of bronchial asthma and laryngospasm, but often include a persistent cough of unknown aetiology, obstructive apnoea, and an obstructive respiratory syndrome confined to the nasopharynx. Gastric acid reflux, enters the adenoids, causes oedema of the tubal orifices, and later leads to relapsing diseases of the middle ear in children. Aim and scope: To evaluate the incidence of otologic manifestations in children with GER and the efficacy of treatment, comparing two different groups of children (i.e., treated versus untreated). Subjects and methods: From January 2005 to November 2006, audiologic screening of newborns and suckling children (0–24 months of age) at risk for auditory illnesses was held at the University Department of Otolaryngology in Catania. Seventy-three children (average age, 13 months) were selected after failing acoustic otoemissions for chronic bilateral catarrhal pathology involving the middle ear (tympanometry type B) and were positive for at least one of the different signs of GER at the time of history-taking. The children were randomised and subdivided into two groups: (1) a group of 40 children (27 females and 13 males; average age, 12 months) who received treatment; and (2) a group of 29 children (16 males and 13 females; average age, 14 months) who did not receive treatment. Four children were lost to follow-up after completing the study. All children enrolled in the study underwent a rhinopharynxlaryngeal fibroscopy with flexible optics, a gastric ultrasound scan after clinical observation, and a multi-channel pH-metry for 18–24h. Results: Findings obtained by rhinopharynxlaryngeal fibroscopy showed that 82% of cases had diffuse hyperaemia involving the entire rhinopharyngeal mucosa and 13% of the cases had arytenoidal hyperaemia. Resolution and improvement of the reflux occurred in 52.5 and 40% of the cases in the treated group, respectively, versus complete resolution and an improvement in symptoms of 45 and 30% of cases, respectively, in the control group. Conclusions: The hypothesis of a correlation between reflux and chronic middle otitis of the serous–mucous type was confirmed in the present study. Adopting a preventive treatment strategy may be useful in reducing the possibility of ear involvement. [Copyright &y& Elsevier]

Mucopolysaccharidosis (MPS) type I (α-iduronidase deficiency) is characterized by storage and massive urinary excretion of dermatan sulfate and heparan sulfate; it may be distinguished into three different subtypes based on age at onset and severity of the clinical symptoms. We report on progressive white matter involvement documented by serial MR imaging in a patient with the MPS type I, severe skeletal involvement and preserved mental capabilities (intermediate phenotype or Hurler/Scheie syndrome).The natural history of white matter abnormalities in patients with MPS is still unclear; based on the present study, it appears that degenerative changes of the white matter mimicking a leukodystrophy may mark the course of MPS type I. We also suggest that the degree of MR changes in patients with MPS does not always reflect their neurological impairment. [Copyright &y& Elsevier]

Background: Non-invasive respiratory ventilation has greatly improved the evolution of respiratory distress in neonates, especially for preterm infants, but few studies have investigated the use of non-invasive ventilation (NIV) in term infants. It is useful for neonatologists and nurses to identify the optimal ventilation strategy in terms of effectiveness for this group of newborns. The aim of our study was to investigate what type of respiratory support between nasal Continuous Positive Airway Pressure (nCPAP) or nasal Biphasic Positive Airway Pressure (nBiPAP) is more effective in term neonates with RDS.Methods: Our study was a retrospective observational study of 78 full term neonates who were admitted to the NICU at S. Bambino Hospital from December 2015 to December 2016 for respiratory distress at birth. All patients underwent non-invasive ventilation by nCPAP or nBiPAP were included. Oxygen saturations and vital signs were monitored continuously. We evaluated blood gas analysis parameters before treatment and after 1 h of ventilation.Results: During the study period, there were 78 full term newborns admitted in our NICU for neonatal distress who were treated with nCPAP ore nBIPAP ventilation. In nBiPAP patients, we noticed a statistically significant reduction in PaCO2 levels and FiO2 requirement with respect to nCPAP patients, after 1 h of ventilation with a simultaneous significant increase of pH and PaO2 levels. There was no difference in the length of NIV and hospital stay. Among nCPAP patients, two were then intubated and one developed a pneumothorax.Conclusion: The results of our study showed that an early BiPAP ventilation on RDS is the more efficient NIV because it improves CO2 removal and reduces FiO2 requirement in comparison to nCPAP. Future studies can clarify if early BiPAP ventilation on RDS is the more efficient of NIV. [ABSTRACT FROM AUTHOR]