Neurology, Behaviour and Development

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

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  1. Letter to the Editor

    Pyridoxine dependent epilepsies: new therapeutical point of view

    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...

    Raffaele Falsaperla and Giovanni Corsello

    Italian Journal of Pediatrics 2017 43:68

    Published on: 5 August 2017

  2. Case report

    A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

    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....

    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

    Italian Journal of Pediatrics 2017 43:65

    Published on: 2 August 2017

  3. Commentary

    Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)

    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 ...

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

    Italian Journal of Pediatrics 2017 43:62

    Published on: 19 July 2017

  4. Commentary

    Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children

    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...

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

    Italian Journal of Pediatrics 2017 43:11

    Published on: 19 January 2017

  5. Research

    Sleep habits and pattern in 1-14 years old children and relationship with video devices use and evening and night child activities

    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...

    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

    Italian Journal of Pediatrics 2017 43:7

    Published on: 13 January 2017

  6. Review

    Ataxia in children: early recognition and clinical evaluation

    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...

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

    Italian Journal of Pediatrics 2017 43:6

    Published on: 13 January 2017

  7. Research

    Serological screening for Celiac Disease in 382 pre-schoolers with Autism Spectrum Disorder

    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...

    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

    Italian Journal of Pediatrics 2016 42:98

    Published on: 16 November 2016

  8. Research

    Norovirus in benign convulsions with mild gastroenteritis

    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 ...

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

    Italian Journal of Pediatrics 2016 42:94

    Published on: 3 November 2016

  9. Research

    Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient

    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...

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

    Italian Journal of Pediatrics 2016 42:91

    Published on: 21 October 2016

  10. Review

    Congenital muscular dystrophy: from muscle to brain

    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.

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

    Italian Journal of Pediatrics 2016 42:78

    Published on: 31 August 2016

  11. Research

    Can biological components predict short-term evolution in Autism Spectrum Disorders? A proof-of-concept study

    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...

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

    Italian Journal of Pediatrics 2016 42:70

    Published on: 22 July 2016

  12. Research

    Moebius syndrome: clinical features, diagnosis, management and early intervention

    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 ...

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

    Italian Journal of Pediatrics 2016 42:56

    Published on: 3 June 2016

  13. Review

    Monitoring of newborns at high risk for brain injury

    Due to the increasing number of surviving preterm newborns and to the recognition of therapeutic hypothermia as the current gold standard in newborns with hypoxic-ischaemic encephalopathy, there has been a gro...

    Francesco Pisani and Carlotta Spagnoli

    Italian Journal of Pediatrics 2016 42:48

    Published on: 14 May 2016

  14. Review

    Stroke and migraine is there a possible comorbidity?

    The association between migraine and stroke is still a dilemma for neurologists. Migraine is associated with an increased stroke risk and it is considered an independent risk factor for ischaemic stroke in a p...

    Alberto Spalice, Francesca Del Balzo, Laura Papetti, Anna Maria Zicari, Enrico Properzi, Francesca Occasi, Francesco Nicita and Marzia Duse

    Italian Journal of Pediatrics 2016 42:41

    Published on: 26 April 2016

  15. Research

    New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

    Array-CGH (aCGH) is presently used into routine clinical practice for diagnosis of patients with intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorder (ASD). ACGH coul...

    Gerarda Cappuccio, Francesco Vitiello, Alberto Casertano, Paolo Fontana, Rita Genesio, Dario Bruzzese, Virginia Maria Ginocchio, Angela Mormile, Lucio Nitsch, Generoso Andria and Daniela Melis

    Italian Journal of Pediatrics 2016 42:39

    Published on: 12 April 2016

  16. Research

    Serum and CSF adiponectin, leptin, and interleukin 6 levels as adipocytokines in Egyptian children with febrile seizures: a cross-sectional study

    A febrile seizure (FS) is the most common convulsive disorder in children. Activation of cytokine network is involved in FS pathogenesis. Adiponectin, leptin and IL-6 are the major adipocytokines secreted by fat ...

    Seham F. Azab, Mohamed A. Abdalhady, Mohamed A. A. Almalky, Ezzat K. Amin, Dina T. Sarhan, Eman M. Elhindawy, Mayy A. N. Allah, Ahmed A. Elhewala, Mohamed M. A. Salam, Mustafa I. A. Hashem, Attia A. Soliman, Nagwa E. Akeel, Sawsan H. Abdellatif, Nahla A. Elsamad, Anwar A. Rass and Manal S. Arafat

    Italian Journal of Pediatrics 2016 42:38

    Published on: 12 April 2016

  17. Research

    Interleukin-6 gene polymorphisms in Egyptian children with febrile seizures: a case–control study

    Febrile seizures are the most common form of childhood seizures. Among pro-inflammatory cytokines, interleukin-6 is the key acute-phase cytokine. To date, only a few studies concerned the association of interl...

    Seham F. Azab, Mohamed A. Abdalhady, Alshaymaa Ali, Ezzat K. Amin, Dina T. Sarhan, Eman M. Elhindawy, Mohamed A. A. Almalky, Ahmed A. Elhewala, Mohamed M. A. Salam, Mustafa I. A. Hashem, Attia A. Soliman, Nagwa E. Akeel, Sawsan H. Abdellatif, Sanaa M. Ismail, Nahla A. Elsamad, Manal S. Arafat…

    Italian Journal of Pediatrics 2016 42:31

    Published on: 9 March 2016

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Società Italiana di Pediatria

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