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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. Content type: Case report

    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

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  2. Content type: Research

    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

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  3. Content type: Research

    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

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  4. Content type: Research

    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

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  5. Content type: Research

    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

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  6. Content type: Research

    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

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  7. Content type: Research

    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

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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. Content type: Review

    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

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  28. Content type: Review

    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

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  29. Content type: Research

    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

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  30. Content type: Research

    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

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  31. Content type: Research

    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

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  32. Content type: Case report

    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

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  33. Content type: Case report

    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

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  34. Content type: Case report

    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

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  35. Content type: Review

    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

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  36. Content type: Research

    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

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  37. Content type: Research

    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

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  38. Content type: Research

    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

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  39. Content type: Case report

    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

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  40. Content type: Case report

    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

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  41. Content type: Case report

    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

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  42. Content type: Review

    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

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  43. Content type: Research

    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

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  44. Content type: Case report

    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

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