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This section considers studies on neurological, psychiatric, behavioral and developmental disorders in children and adolescents.
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...
Italian Journal of Pediatrics 2017 43:68
Published on: 5 August 2017
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....
Italian Journal of Pediatrics 2017 43:65
Published on: 2 August 2017
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 ...
Italian Journal of Pediatrics 2017 43:62
Published on: 19 July 2017
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...
Italian Journal of Pediatrics 2017 43:11
Published on: 19 January 2017
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...
Italian Journal of Pediatrics 2017 43:7
Published on: 13 January 2017
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...
Italian Journal of Pediatrics 2017 43:6
Published on: 13 January 2017
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...
Italian Journal of Pediatrics 2016 42:102
Published on: 21 November 2016
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...
Italian Journal of Pediatrics 2016 42:98
Published on: 16 November 2016
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 ...
Italian Journal of Pediatrics 2016 42:94
Published on: 3 November 2016
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...
Italian Journal of Pediatrics 2016 42:91
Published on: 21 October 2016
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.
Italian Journal of Pediatrics 2016 42:78
Published on: 31 August 2016
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...
Italian Journal of Pediatrics 2016 42:70
Published on: 22 July 2016
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 ...
Italian Journal of Pediatrics 2016 42:56
Published on: 3 June 2016
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...
Italian Journal of Pediatrics 2016 42:48
Published on: 14 May 2016
Research
We study the effect of liver X receptor β (LXRβ) on β-amyloid (Aβ) peptide generation and autism behaviors by conducting an animal experiment.
Italian Journal of Pediatrics 2016 42:46
Published on: 6 May 2016
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...
Italian Journal of Pediatrics 2016 42:41
Published on: 26 April 2016
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...
Italian Journal of Pediatrics 2016 42:39
Published on: 12 April 2016
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 ...
Italian Journal of Pediatrics 2016 42:38
Published on: 12 April 2016
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...
Italian Journal of Pediatrics 2016 42:31
Published on: 9 March 2016
Case report
Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary peripheral neuropathy. The major clinical features of CMT are progressive muscle weakness of distal extremities and sensory loss. MFN2 encode...
Italian Journal of Pediatrics 2016 42:28
Published on: 8 March 2016
