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Italian Journal of Pediatrics

Neurology, Behaviour and Development

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

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  1. Content type: Research

    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

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  2. Content type: Review

    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

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  3. Content type: Case report

    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

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  4. Content type: Review

    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

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  5. Content type: Research

    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

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  6. Content type: Research

    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

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  7. Content type: Letter to the Editor

    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

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  8. Content type: Case report

    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

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  9. Content type: Commentary

    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

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  10. Content type: Commentary

    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

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  11. Content type: Research

    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

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  12. Content type: Review

    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

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  13. Content type: Research

    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

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  14. Content type: Research

    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

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  15. Content type: Research

    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

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  16. Content type: Research

    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

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  17. Content type: Review

    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

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  18. Content type: Research

    The clinical and pathogenetic heterogeneity of Autism Spectrum Disorders (ASD) limits our ability to predict its short- and long-term evolution. Aim of this naturalistic study was to observe the clinical evolu...

    Authors: Leonardo Emberti Gialloreti, Arianna Benvenuto, Barbara Battan, Francesca Benassi and Paolo Curatolo

    Citation: Italian Journal of Pediatrics 2016 42:70

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  19. Content type: Research

    Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ...

    Authors: Odoardo Picciolini, Matteo Porro, Elisa Cattaneo, Silvia Castelletti, Giuseppe Masera, Fabio Mosca and Maria Francesca Bedeschi

    Citation: Italian Journal of Pediatrics 2016 42:56

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