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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. 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

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  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. 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

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  7. 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

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  8. 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

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  9. 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

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  10. 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

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  11. 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

    Content type: Research

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  12. 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

    Content type: Research

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  13. 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...

    Authors: Francesco Pisani and Carlotta Spagnoli

    Citation: Italian Journal of Pediatrics 2016 42:48

    Content type: Review

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  14. 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...

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

    Citation: Italian Journal of Pediatrics 2016 42:41

    Content type: Review

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  15. 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...

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

    Citation: Italian Journal of Pediatrics 2016 42:39

    Content type: Research

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  16. 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 ...

    Authors: 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

    Citation: Italian Journal of Pediatrics 2016 42:38

    Content type: Research

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  17. 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...

    Authors: 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…

    Citation: Italian Journal of Pediatrics 2016 42:31

    Content type: Research

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  18. Management of secretions in children with cerebral palsy is often problematic due to severe deformation of the rib cage, impaired cough, and patients’inability to collaborate with chest physiotherapy. Assessin...

    Authors: Giancarlo Garuti, Elisa Verucchi, Isabella Fanelli, Michele Giovannini, Joao Carlos Winck and Mirco Lusuardi

    Citation: Italian Journal of Pediatrics 2016 42:7

    Content type: Case report

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  19. Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III present...

    Authors: Paulina Krawiec, Elżbieta Pac-Kożuchowska, Beata Mełges, Agnieszka Mroczkowska-Juchkiewicz, Stanisław Skomra, Agnieszka Pawłowska-Kamieniak and Katarzyna Kominek

    Citation: Italian Journal of Pediatrics 2014 40:97

    Content type: Case report

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  20. Acute cerebellar ataxia (ACA) is a relatively common neurological disease in children. Most common types of ACA are acute post-infectious (APCA) and acute disseminated encephalomyelitis (ADEM). Less common but...

    Authors: Aldo Naselli, Giovanna Pala, Federico Cresta, Martina Finetti, Roberta Biancheri and Salvatore Renna

    Citation: Italian Journal of Pediatrics 2014 40:98

    Content type: Case report

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  21. The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months.

    Authors: Piero Pavone, Andrea D Praticò, Giovanna Vitaliti, Martino Ruggieri, Renata Rizzo, Enrico Parano, Lorenzo Pavone, Giuseppe Pero and Raffaele Falsaperla

    Citation: Italian Journal of Pediatrics 2014 40:79

    Content type: Review

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  22. Acute cerebellitis (AC) is the most common neurological complication of varicella. Nevertheless, it has been scarcely studied. The objective of this study were to asses the occurrence of AC among children hosp...

    Authors: Elena Bozzola, Mauro Bozzola, Alberto Eugenio Tozzi, Valeria Calcaterra, Daniela Longo, Andrzej Krzystofiak and Alberto Villani

    Citation: Italian Journal of Pediatrics 2014 40:57

    Content type: Research

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  23. The aim of this study is to examine the prevalence of behavioural and emotional problems in a sample of school children living in Campania, a region of South Italy.

    Authors: Antonella Gritti, Carmela Bravaccio, Simona Signoriello, Filomena Salerno, Simone Pisano, Gennaro Catone, Ciro Gallo and Antonio Pascotto

    Citation: Italian Journal of Pediatrics 2014 40:19

    Content type: Research

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  24. Despite growing interest in psychotherapy in child and adolescent headache, efficacy studies in this research field have focused mainly on cognitive-behavioral therapies. Whereas relaxation and cognitive-behav...

    Authors: Umberto Balottin, Matteo Ferri, Michela Racca, Maura Rossi, Giorgio Rossi, Ettore Beghi, Matteo Chiappedi and Cristiano Termine

    Citation: Italian Journal of Pediatrics 2014 40:6

    Content type: Research

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  25. Focal epilepsy with ictal abdominal pain is an unusual partial epilepsy characterized by paroxysmal episodes of abdominal or visceral pain, disturbance of awareness and electroencephalographic abnormalities. W...

    Authors: Caterina Cerminara, Nadia El Malhany, Denis Roberto and Paolo Curatolo

    Citation: Italian Journal of Pediatrics 2013 39:76

    Content type: Case report

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  26. The development of neurological complications due to varicella zoster virus (VZV) reactivation is relatively uncommon, particularly in the case of immunocompetent patients. Only a few cases have been described...

    Authors: Susanna Esposito, Samantha Bosis, Raffaella Pinzani, Laura Morlacchi, Laura Senatore and Nicola Principi

    Citation: Italian Journal of Pediatrics 2013 39:72

    Content type: Case report

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  27. Mitochondrial dysfunction manifests in many forms during childhood. There is no effective therapy for the condition; hence symptomatic therapy is the only option. The effect of symptomatic therapy are not well...

    Authors: Jun Lu and Yuanyuan Huang

    Citation: Italian Journal of Pediatrics 2013 39:60

    Content type: Case report

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  28. Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by the development of hamartomas in several organs. Mutations in the TSC1 and TSC2 tumor suppressor genes determin overactivatio...

    Authors: Romina Moavero, Antonella Coniglio, Francesco Garaci and Paolo Curatolo

    Citation: Italian Journal of Pediatrics 2013 39:57

    Content type: Review

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  29. This review provides a synopsis for clinicians on the use of antiepileptic drugs (AEDs) in the breastfeeding mother.

    Authors: Riccardo Davanzo, Sara Dal Bo, Jenny Bua, Marco Copertino, Elisa Zanelli and Lorenza Matarazzo

    Citation: Italian Journal of Pediatrics 2013 39:50

    Content type: Research

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  30. Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Da...

    Authors: Ettore Piro, Maria Piccione, Gianluca Marrone, Mario Giuffrè and Giovanni Corsello

    Citation: Italian Journal of Pediatrics 2013 39:32

    Content type: Case report

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  31. Anorexia nervosa commonly arises during adolescence and is associated with more than one medical morbidity. Abnormalities in brain structure (defined as “pseudoatrophy”) are common in adolescents with anorexia...

    Authors: Monica Bomba, Anna Riva, Federica Veggo, Marco Grimaldi, Sabrina Morzenti, Francesca Neri and Renata Nacinovich

    Citation: Italian Journal of Pediatrics 2013 39:14

    Content type: Research

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  32. Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can...

    Authors: Pasquale Parisi, Severino Persechino, Maria Chiara Paolino, Francesco Nicita, Isabella Torrente, Alessandro Bozzao and Maria Pia Villa

    Citation: Italian Journal of Pediatrics 2013 39:10

    Content type: Case report

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  33. Hemi-hydranencephaly is a very rare condition characterized by complete or almost near-complete unilateral absence of the cortical cortex, which is filled by a sac of cerebrospinal fluid. Prenatal vascular dis...

    Authors: Piero Pavone, Francesco Nigro, Raffaele Falsaperla, Filippo Greco, Martino Ruggieri, Renata Rizzo, Andrea D Praticò and Lorenzo Pavone

    Citation: Italian Journal of Pediatrics 2013 39:3

    Content type: Review

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  34. There is a strong need for studies evaluating tests in terms both of psychometric properties (i.e. their efficacy or ability to be helpful in reaching a diagnosis) and of their cost-effectiveness (i.e. their e...

    Authors: Matteo Chiappedi, Erika Maffioletti, Fausta Piazza, Nicole D'Adda, Marta Tamburini and Umberto Balottin

    Citation: Italian Journal of Pediatrics 2012 38:3

    Content type: Research

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  35. Attention deficit hyperactivity disorder is a behavioral syndrome of childhood characterized by inattention, hyperactivity and impulsivity. There were many etiological theories showed dysfunction of some brain...

    Authors: Magdy M Mahmoud, Abdel-Azeem M El-Mazary, Reham M Maher and Manal M Saber

    Citation: Italian Journal of Pediatrics 2011 37:60

    Content type: Research

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  36. The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders sho...

    Authors: Pasquale Parisi, Alberto Verrotti, Maria Chiara Paolino, Rosa Castaldo, Filomena Ianniello, Alessandro Ferretti, Francesco Chiarelli and Maria Pia Villa

    Citation: Italian Journal of Pediatrics 2011 37:58

    Content type: Review

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  37. To evaluate renal side-effects of anti-epileptic medication by valproate (VPA) and carbamazepine (CBZ), we performed a prospective study to assess renal tubular function by measuring N-acetyl-β glucosaminidase (N...

    Authors: Mojgan Mazaheri, Afshin Samaie and Vahid Semnani

    Citation: Italian Journal of Pediatrics 2011 37:21

    Content type: Research

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  38. Neurocysticercosis represents an important cause of seizures in children in endemic countries, such as Latin America, Asia and sub-Saharan Africa, while in Europe, especially in Italy, the cases of neurocystic...

    Authors: Irene Raffaldi, Carlo Scolfaro, Federica Mignone, Sonia Aguzzi, Federica Denegri and Pier-Angelo Tovo

    Citation: Italian Journal of Pediatrics 2011 37:9

    Content type: Case report

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  39. Ischemia of the basal ganglia as an immediate consequence of minor head injury in children is rare (< 2% of all ischemic stroke in childhood) and is due to vasospasm of the lenticulostriate arteries. The clini...

    Authors: Alessandro Landi, Nicola Marotta, Cristina Mancarella, Daniele Marruzzo, Maurizio Salvati and Roberto Delfini

    Citation: Italian Journal of Pediatrics 2011 37:2

    Content type: Case report

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  40. Attention-Deficit/Hyperactivity Disorder is not a single pathophysiological entity and appears to have a complex etiology. There are multiple genetic and environmental risk factors with small individual effect...

    Authors: Paolo Curatolo, Elisa D'Agati and Romina Moavero

    Citation: Italian Journal of Pediatrics 2010 36:79

    Content type: Review

    Published on:

  41. Autism is a disorder of early childhood characterized by social impairment, communication abnormalities and stereotyped behaviors. The hypothalamic-pituitary-adrenocortical (HPA) axis deserves special attentio...

    Authors: Rasha T Hamza, Doaa H Hewedi and Mona A Ismail

    Citation: Italian Journal of Pediatrics 2010 36:71

    Content type: Research

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