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Neurology, Behaviour and Development

This section considers studies on neurological, psychiatric, behavioral and developmental disorders in children and adolescents.

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  1. Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LS...

    Authors: Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco and Giovanni Corsello

    Citation: Italian Journal of Pediatrics 2020 46:140

    Content type: Case report

    Published on:

  2. For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised c...

    Authors: Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina, Paraskevas Iatropoulos, Bruno Bembi, Rosalia Maria Da Riol, Alessandra Ferlini, Marcella Neri, Giuseppe Novelli…

    Citation: Italian Journal of Pediatrics 2020 46:130

    Content type: Research

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  3. Anticipatory guidance for parents is commonly used to improve parenting skills. The objective of this pre/post-intervention controlled study was to evaluate the effectiveness of a periodic newsletter with advi...

    Authors: Costantino Panza, Alessandro Volta, Serena Broccoli, Laura Bonvicini, Sally Kendall, Maddalena Marchesi and Paolo Giorgi Rossi

    Citation: Italian Journal of Pediatrics 2020 46:123

    Content type: Research

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  4. Cerebral venous sinus thrombosis in children is a rare but potentially fatal complication of acute mastoiditis, one of the most common pediatric infectious diseases. Due to its subtle clinical presentation, su...

    Authors: Massimo Luca Castellazzi, Giada Maria di Pietro, Michele Gaffuri, Sara Torretta, Giorgio Conte, Francesco Folino, Sebastiano Aleo, Samantha Bosis and Paola Marchisio

    Citation: Italian Journal of Pediatrics 2020 46:122

    Content type: Case report

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  5. Disruptive behavior can have lifetime consequences for youth. Prevention, early identification and treatment of disruptive behavior can improve outcomes for these youth. The purpose of the present study was to...

    Authors: Marzieh Araban, Ali Montazeri, L. A. R. Stein, Mahmood Karimy and Ali Asghar Haeri Mehrizi

    Citation: Italian Journal of Pediatrics 2020 46:85

    Content type: Research

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  6. Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department o...

    Authors: Ettore Piro, Gregorio Serra, Ingrid Anne Mandy Schierz, Mario Giuffrè and Giovanni Corsello

    Citation: Italian Journal of Pediatrics 2020 46:72

    Content type: Research

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  8. Vitamin B12 (cobalamin, cbl) deficiency in children is rare and may occurs in exclusively breast fed infants of mothers on vegetarian or vegan diet with lack of appropriate supplementation. The clinical manifesta...

    Authors: Cezary Dubaj, Katarzyna Czyż and Wanda Furmaga-Jabłońska

    Citation: Italian Journal of Pediatrics 2020 46:40

    Content type: Case report

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  9. Seizures in individuals affected by tuberous sclerosis complex (TSC) commonly develop in the first year of life, are often preceded by a progressive deterioration of the electroencephalogram (EEG), and likely ...

    Authors: M. N. Savini, A. Mingarelli, A. Peron, F. La Briola, F. Cervi, R. M. Alfano, M. P. Canevini and A. Vignoli

    Citation: Italian Journal of Pediatrics 2020 46:36

    Content type: Research

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  10. CDKL5-related disorders (CDD) is an epileptic encephalopathy resulted of gene mutations of CDKL5. This study aimed to explore the development process of CDD and to expand its mutation spectrum.

    Authors: Yumei Yan, Dake He, Jing Wu, Ruolin Hou, Kun Sun and Ling Li

    Citation: Italian Journal of Pediatrics 2020 46:27

    Content type: Research

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  11. The survival of preterm babies has increased worldwide, but the risk of neuro-developmental disabilities remains high, which is of concern to both the public and professionals. The early identification of chil...

    Authors: Licia Lugli, Marisa Pugliese, Carlotta Plessi, Alberto Berardi, Isotta Guidotti, Gina Ancora, Sara Grandi, Giancarlo Gargano, Silvia Braibanti, Fabrizio Sandri, Silvia Soffritti, Elisa Ballardini, Vittoria Arena, Marcello Stella, Serafina Perrone, Sabrina Moretti…

    Citation: Italian Journal of Pediatrics 2020 46:26

    Content type: Research

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  12. The pathophysiological etiologies related with the development of Autism Spectrum Disorders (ASD) remain controversial. Different authors have studied neurotoxins such as mercury (Hg) and their relationship wi...

    Authors: Fernando Gil-Hernández, Antonio R. Gómez-Fernández, María Josede la Torre-Aguilar, Juan L. Pérez-Navero, Katherine Flores-Rojas, Pilar Martín-Borreguero and Mercedes Gil-Campos

    Citation: Italian Journal of Pediatrics 2020 46:19

    Content type: Research

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  13. The aims of the study were to determine the effects of electronic exposure on behaviors of preschoolers, which could provide scientific grounds to the control of digital screen time and usage of electronics.

    Authors: Guodong Xie, Qianye Deng, Jing Cao and Qing Chang

    Citation: Italian Journal of Pediatrics 2020 46:9

    Content type: Research

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  15. Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the ...

    Authors: Agnese Suppiej, Silvia Marino, Maria Eleonora Reffo, Veronica Maritan, Giovanna Vitaliti, Janette Mailo and Raffaele Falsaperla

    Citation: Italian Journal of Pediatrics 2019 45:168

    Content type: Research

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  16. Premature thelarche (PT) is a benevolent ailment affecting young girls. Multiple factors are reported to correlate with this condition, but the mechanisms responsible for the onset of PT have not yet been full...

    Authors: Yueqin Xu, Yan Li, Shuang Liang and Guimei Li

    Citation: Italian Journal of Pediatrics 2019 45:166

    Content type: Research

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  17. Autism spectrum disorder is characterized by impairment in social interaction and communication along with repetitive, restricted, and stereotyped behaviors, interests and activities. It is important to detect...

    Authors: Antonia Parmeggiani, Arianna Corinaldesi and Annio Posar

    Citation: Italian Journal of Pediatrics 2019 45:144

    Content type: Research

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  18. Around the age of 6 months, difficulties in settling to sleep and frequent night awakenings are generally occurring in 20 to 30% of infants. According to the transactional model parental factors can play a sig...

    Authors: Benedetta Ragni, Simona De Stasio, Daniela Barni, Simonetta Gentile and Rosaria Giampaolo

    Citation: Italian Journal of Pediatrics 2019 45:134

    Content type: Research

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  19. Aim of the study is to intercept specific characteristics and psychiatric comorbidity in Down Syndrome (DS). The study describes the distribution and the age of specific aspects of behavioral phenotype in a sa...

    Authors: M. Marino, I. Scala, O. Scicolone, P. Strisciuglio and C. Bravaccio

    Citation: Italian Journal of Pediatrics 2019 45:92

    Content type: Research

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  21. The purpose of this report was to present the results of eye movement desensitisation and reprocessing (EMDR) therapy associated with parent management training (PMT) in a child with paediatric autoimmune neur...

    Authors: Cristiana A. Guido, Anna Maria Zicari, Marzia Duse and Alberto Spalice

    Citation: Italian Journal of Pediatrics 2019 45:74

    Content type: Case report

    Published on:

  22. Bullying is one of the most common expressions of violence in the peer context during school years. This study investigates the prevalence of bullying and the short-term effects on students’ bullying perceptio...

    Authors: Claudio Costantino, Alessandra Casuccio, Claudia Marotta, Stefania Enza Bono, Gianmarco Ventura, Walter Mazzucco, Francesco Vitale and Vincenzo Restivo

    Citation: Italian Journal of Pediatrics 2019 45:65

    Content type: Research

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  23. Epidemiological studies worldwide indicate that teenagers are at risk of internalizing and externalizing problems that persist into adulthood. In our country, there are few epidemiological studies on adolescen...

    Authors: Martina Smorti, Annarita Milone, José Gonzalez Gonzalez and Giovanni Vitali Rosati

    Citation: Italian Journal of Pediatrics 2019 45:62

    Content type: Research

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  24. Migraine is one of the most prevalent chronic pain manifestations of childhood. Despite the multitude of available treatments, parents are often concerned about chronic therapies and pediatricians have insuffi...

    Authors: Filomena Moscano, Michela Guiducci, Lucia Maltoni, Pasquale Striano, Maria Giuseppina Ledda, Francesco Zoroddu, Umberto Raucci, Maria Pia Villa and Pasquale Parisi

    Citation: Italian Journal of Pediatrics 2019 45:36

    Content type: Research

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  25. Listeria monocytogenes is a gram-positive bacteria generally transmitted to humans through ingestion of contaminated food. It typically infects high risk subjects, such as pregnant women, neonates, the elderly an...

    Authors: Massimo Luca Castellazzi, Paola Marchisio and Samantha Bosis

    Citation: Italian Journal of Pediatrics 2018 44:152

    Content type: Case report

    Published on:

  26. Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, ...

    Authors: Frenny Sheth, Thomas Liehr, Viraj Shah, Hillary Shah, Stuti Tewari, Dhaval Solanki, Sunil Trivedi and Jayesh Sheth

    Citation: Italian Journal of Pediatrics 2018 44:114

    Content type: Case report

    Published on:

  27. In adult studies the MTHFR C677T polymorphism has been associated with an increased risk of migraine, but little research has been done in this area in children.

    Authors: A. Orsini, I. Sammartino, A. Valetto, V. Bertini, P. Marchese, A. Bonuccelli and D. G. Peroni

    Citation: Italian Journal of Pediatrics 2018 44:106

    Content type: Research

    Published on:

  28. The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on ...

    Authors: Rosaria Turchetta, Guido Conti, Pasquale Marsella, Maria Patrizia Orlando, Pasqualina Maria Picciotti, Simonetta Frezza, Francesca Yoshie Russo, Alessandro Scorpecci, Maria Gloria Cammeresi, Sara Giannantonio, Antonio Greco and Massimo Ralli

    Citation: Italian Journal of Pediatrics 2018 44:104

    Content type: Research

    Published on:

  29. In previous study, we have found intermittent oral levetiracetam (LEV) can effectively prevent recurrence of febrile seizure (FS). This study aimed to analyze the effects of the preventive on the patients with...

    Authors: Lin-Yan Hu, Xiu-Yu Shi, Hui Li, Meng-Na Zhang, Shu-Fang Ma and Li-Ping Zou

    Citation: Italian Journal of Pediatrics 2018 44:70

    Content type: Research

    Published on:

  30. Acute ocular motility disorders (OMDs) in children admitted to Emergency Department (ED) represents a not so rare condition with a wide spectrum of different etiologies. The emergency physician must be skilled...

    Authors: Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Valentina Ferro, Giacomo Garone, Federica Sancetta, Sergio Petroni, Stefano Pro, Rossella Rossi, Antonino Reale and Nicola Pirozzi

    Citation: Italian Journal of Pediatrics 2018 44:62

    Content type: Research

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  31. The 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-ph...

    Authors: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione and Ettore Piro

    Citation: Italian Journal of Pediatrics 2018 44:45

    Content type: Research

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  32. 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.

    Authors: Thomas Foiadelli, Alessandra Piccorossi, Lucia Sacchi, Mara De Amici, Maurizio Tucci, Ilaria Brambilla, Gian Luigi Marseglia, Salvatore Savasta and Alberto Verrotti

    Citation: Italian Journal of Pediatrics 2018 44:44

    Content type: Research

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  33. Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study ...

    Authors: Claudia Santoro, Pia Bernardo, Antonietta Coppola, Umberto Pugliese, Mario Cirillo, Teresa Giugliano, Giulio Piluso, Giuseppe Cinalli, Salvatore Striano, Carmela Bravaccio and Silverio Perrotta

    Citation: Italian Journal of Pediatrics 2018 44:41

    Content type: Research

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  34. Methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in the hyperhomocysteinemia, which is a risk factor related to the occurrence of congenital heart defect (CHD). However, the association between...

    Authors: Di Yu, Zhulun Zhuang, Zhongyuan Wen, Xiaodong Zang and Xuming Mo

    Citation: Italian Journal of Pediatrics 2017 43:108

    Content type: Review

    Published on:

  35. Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isola...

    Authors: Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D. Praticò and Martino Ruggieri

    Citation: Italian Journal of Pediatrics 2017 43:99

    Content type: Case report

    Published on:

  37. Conduct Disorder (CD) is a psychiatric diagnosis characterized by a repetitive and persistent pattern of behaviour in which the basic rights of others and major age-appropriate social norms or rules are violat...

    Authors: Simone Pisano, Pietro Muratori, Chiara Gorga, Valentina Levantini, Raffaella Iuliano, Gennaro Catone, Giangennaro Coppola, Annarita Milone and Gabriele Masi

    Citation: Italian Journal of Pediatrics 2017 43:84

    Content type: Review

    Published on:

  38. Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, characterized by impaired social communication and restricted and repetitive behaviours, as well as associated features including intell...

    Authors: Francesca Felicia Operto, Federica Martino, Annalisa Rinaldi, Angelo Cerracchio, Giovanni Salvati, Mariano Orza, Claudia Lembo, Gianvito Panzarino, Claudia Di Paolantonio, Alberto Verrotti, Giovanni Farello and Giangennaro Coppola

    Citation: Italian Journal of Pediatrics 2017 43:83

    Content type: Research

    Published on:

  39. This study evaluated the validity and reliability of the Italian version of the Non-Communicating Children’s Pain Checklist-Postoperative version (I-NCCPC-PV).

    Authors: C. Zanchi, M. Massaro, G. Ferrara, M. Montico, F. D’Osualdo, R. Rutigliano, A. Taddio, L. Vecchi Brumatti, G. Cozzi and E. Barbi

    Citation: Italian Journal of Pediatrics 2017 43:75

    Content type: Research

    Published on:

  40. Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after pare...

    Authors: Raffaele Falsaperla and Giovanni Corsello

    Citation: Italian Journal of Pediatrics 2017 43:68

    Content type: Letter to the Editor

    Published on:

  41. Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways....

    Authors: Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia and Andrea Bartuli

    Citation: Italian Journal of Pediatrics 2017 43:65

    Content type: Case report

    Published on:

  42. A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of ...

    Authors: H. Rahmoune, N. Boutrid, M. Amrane, M. C. Chekkour and B. Bioud

    Citation: Italian Journal of Pediatrics 2017 43:62

    Content type: Commentary

    Published on:

  43. Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. It is characterized by the association of mul...

    Authors: Mariella Valenzise, Tommaso Aversa, Giuseppina Salzano, Giuseppina Zirilli, Filippo De Luca and Maureen Su

    Citation: Italian Journal of Pediatrics 2017 43:11

    Content type: Commentary

    Published on:

  44. Sleep in childhood and adolescence is crucial for mental and physical health; however several researches reported an increasing trend towards a sleep deprivation in this age. Due to the lack of recent epidemio...

    Authors: Paolo Brambilla, Marco Giussani, Angela Pasinato, Leonello Venturelli, Francesco Privitera, Emanuele Miraglia del Giudice, Sara Sollai, Marina Picca, Giuseppe Di Mauro, Oliviero Bruni and Elena Chiappini

    Citation: Italian Journal of Pediatrics 2017 43:7

    Content type: Research

    Published on:

  45. Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry co...

    Authors: Piero Pavone, Andrea D. Praticò, Vito Pavone, Riccardo Lubrano, Raffaele Falsaperla, Renata Rizzo and Martino Ruggieri

    Citation: Italian Journal of Pediatrics 2017 43:6

    Content type: Review

    Published on:

  46. Ventricular septal defects (VSD) are the most common subtype of congenital heart defects (CHD) and are estimated to account for 20 to 30% of all cases of CHD. The etiology of isolated VSD remains poorly unders...

    Authors: Yu Feng, Runsen Chen and Xuming Mo

    Citation: Italian Journal of Pediatrics 2016 42:102

    Content type: Research

    Published on:

  47. Recent investigations suggest a possible common genetic background between Autism Spectrum Disorders (ASD) and Celiac Disease (CD). However, studies regarding this association are scarce and often limited by t...

    Authors: Sara Calderoni, Elisa Santocchi, Teresa Del Bianco, Elena Brunori, Laura Caponi, Aldo Paolicchi, Francesca Fulceri, Margherita Prosperi, Antonio Narzisi, Angela Cosenza, Raffaella Tancredi and Filippo Muratori

    Citation: Italian Journal of Pediatrics 2016 42:98

    Content type: Research

    Published on:

  48. Benign convulsions with gastroenteritis (CwG) are defined as afebrile convulsions accompanying symptoms of gastroenteritis without evidence of laboratory derangement. Although the main pathogen has been known ...

    Authors: Gun-Ha Kim, Jung Hye Byeon, Deog-Yong Lee, Hyun Ju Jeong and Baik-Lin Eun

    Citation: Italian Journal of Pediatrics 2016 42:94

    Content type: Research

    Published on:

  49. Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a de...

    Authors: S. Micheletti, F. Palestra, P. Martelli, P. Accorsi, J. Galli, L. Giordano, V. Trebeschi and E. Fazzi

    Citation: Italian Journal of Pediatrics 2016 42:91

    Content type: Research

    Published on:

  50. Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.

    Authors: Raffaele Falsaperla, Andrea D. Praticò, Martino Ruggieri, Enrico Parano, Renata Rizzo, Giovanni Corsello, Giovanna Vitaliti and Piero Pavone

    Citation: Italian Journal of Pediatrics 2016 42:78

    Content type: Review

    Published on:

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