Publications by authors named "Sara Uccella"

The COVID-19 pandemic has had a profound impact on pediatric mental health, contributing to a global surge in psychiatric emergencies among children and adolescents. This study aimed to evaluate trends in pediatric emergency department (PED) visits for three key psychiatric conditions-anxiety disorders (ADs), self-injury behaviors (SIBs), and psychomotor agitation (PMA)-before and after the onset of the COVID-19 pandemic. : We conducted a retrospective observational study at a tertiary pediatric hospital in Italy, analyzing all psychiatric presentations to the PED from 1 January 2018 to 31 December 2024.

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Newborns spend most of their time sleeping. This activity fosters neurodevelopment. Prematurity, defined by birth occurring prior the 37th week of gestation, disrupts normal brain in-utero programming, with long-lasting consequences that carry a high social burden.

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Article Synopsis
  • Cerebellar heterotopia (CH) is a rare brain abnormality with limited research, often seen alongside other cerebellar issues and syndromes, particularly in pediatric patients.
  • This study analyzed a group of 32 children diagnosed with CH, categorizing them into those with isolated CH or cerebellar malformations and those with CH plus cerebral malformations.
  • Findings revealed specific brain imaging patterns for CH and identified a link between certain genetic factors and developmental issues, with many affected children experiencing language delays and motor difficulties.
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Background And Importance: Healthcare professionals face significant workloads, as their roles are among the most demanding and stressful. Resilience serves as a crucial factor in helping them cope with the challenges encountered in their work environment and effectively manage stress. Assessing the level of resilience among healthcare workers and identifying potential variations across different groups is essential for effective public health management, preventing burnout, and ultimately enhancing patient care.

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Importance: There are suggestions that school pressure may be stressful and a factor in child and adolescent mental health disturbances, but data about this association are scarce and inconclusive.

Objective: To assess whether varying degrees of school interruption were associated with changes in emergency department (ED) psychiatric visits of children and adolescents before and after the COVID-19 outbreak.

Design, Setting, And Participants: A cross-sectional observational study was conducted at 9 urban university hospitals in Italy.

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Besides recent advances in neonatal care, preterm newborns still develop sex-biased behavioral alterations. Preterms fail to receive placental insulin-like growth factor-1 (IGF-1), a major fetal growth hormone in utero, and low IGF-1 serum levels correlate with preterm poor neurodevelopmental outcomes. Here, we mimicked IGF-1 deficiency of preterm newborns in mice by perinatal administration of an IGF-1 receptor antagonist.

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Article Synopsis
  • Extra-uterine growth restriction (EUGR) is linked to poor development outcomes in very-low-birth-weight neonates, with a study of 288 patients examining various factors influencing growth and development.
  • The research found that a higher weight z-score at 6 months positively impacts overall developmental quotient (DQ) at 2 years, while EUGR at that age correlates with poorer performance across multiple developmental areas.
  • The findings highlight the importance of improved post-discharge nutrition and family education to support better growth and development in vulnerable infants.
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We report the case of a preterm of 27 weeks of gestation who developed posthemorrhagic ventricular dilatation associated to a complete thrombosis of the superior sagittal sinus, for its peculiar interest in clarifying the physiology of the cerebrospinal fluid (CSF) dynamics. The exact CSF volume that must be removed to improve cerebral hemodynamics and outcomes in infants with posthemorrhagic ventricular dilatation is unknown. According to Volpe's studies, a volume of 10 to 15 mL/kg/die of body weight is commonly chosen.

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Article Synopsis
  • * The combination of rapid biological and psychosocial changes during adolescence contributes to at-risk behaviors and exacerbates mental health concerns, including mood disorders and self-injury.
  • * The COVID-19 pandemic has negatively impacted many adolescents' mental health and sleep quality, highlighting the need for preventative strategies to support their mental and physical health.
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Aim: To determine whether isolated low-grade germinal matrix-intraventricular haemorrhages (LG-GMH-IVH) and low-grade punctate cerebellar haemorrhages (LG-CBH) contribute to the neurodevelopment of infants born preterm with very low birthweight (VLBW).

Method: A prospective observational cohort study was conducted on infants born with VLBW hospitalized from January 2012 to July 2017 who had undergone serial cranial ultrasounds since birth and magnetic resonance susceptibility-weighted imaging of the brain at term-corrected age. Only those with VLBW carrying isolated LG-GMH-IVH (grades 1 or 2) or isolated LG-CBH (punctate cerebellar haemorrhages ≤4 mm in diameter) or absence of lesions (no-lesion) were enrolled and followed up to 3 years.

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Article Synopsis
  • The study aimed to analyze the trends in psychiatric emergencies and self-harm cases at emergency departments (EDs) during the pandemic, comparing data from one year into the pandemic with earlier periods.
  • A total of 8,174 psychiatric presentations involving children and adolescents were studied, showing a significant increase in both psychiatric and self-harm presentations in March to April 2021 compared to previous years.
  • The results indicated a rise in self-harm cases, particularly among females, highlighting the need for effective follow-up services and attention to mental health issues in pediatric populations.
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Background: During the last decades, severe brain lesions affecting very low birth weight (<1500 gr, VLBW) infants were gradually substituted by milder lesions with debatable prognoses.

Objective: The objective of this study is to define type, frequency and 3 years of neurodevelopmental outcome of prematurity-related brain lesions in a modern cohort of VLBW infants.

Methods: VLBW infants admitted to our NICU in 5 years period with brain MRI at term-equivalent age were included.

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Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion.

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Background: COVID-19 is having a significant impact on long term children' and adolescents' psychological health. We aimed to evaluate the direct early psychological and behavioural signs related to the COVID-19 pandemic outbreak and related confinement on children and adolescents.

Methods: Children and adolescents' drawings were collected for a limited time window (16th March-10th April 2020) and analyzed.

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Purpose: To explore the relationships between clinical-radiological features and surgical outcomes in subjects with interhemispheric cysts (IHC) and corpus callosum anomalies.

Methods: We reviewed the clinico-radiological and neurosurgical data of 38 patients surgically treated with endoscopic fenestration, shunting, or combined approaches from 2000 to 2018 (24 males, median age 9 years). Pre- and postoperative changes in IHC volume were calculated.

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Background: We investigated the COVID19-related psychological impact on healthcare workers in Italy and in Italian-speaking regions of Switzerland, three weeks after its outbreak. All professional groups of public hospitals in Italy and Switzerland were asked to complete a 38 questions online survey investigating demographic, marital and working status, presence of stress symptoms and need for psychological support.

Results: Within 38 h a total of 3,038 responses were collected.

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Background: Coronavirus disease 2019 (COVID-19) related confinement severely impacted people wellbeing. Many studies focused on general population, although it is reasonable to expect that patients with neurodevelopmental disorders might have been at higher risk. Children/adolescents with attention deficit/hyperactivity disorder (ADHD) might be potentially more vulnerable, due to their intolerance to forced restrictions that limit stimulating experiences, to obligation to follow instructions and to acceptation of imposed rules.

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Objective: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. Few studies describe the electroclinical features of epilepsy in patients with CASK pathogenic variants and their relationship with developmental delay.

Methods: this national multicentre cohort included genetically confirmed patients with different CASK pathogenic variants.

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Mutations in AarF domain-containing kinase 3 (ADCK3) are responsible for the most frequent form of hereditary coenzyme Q10 (CoQ10) deficiency (Q10 deficiency-4), which is mainly associated with autosomal recessive cerebellar ataxia type 2 (ARCA2). Clinical presentation is characterized by a variable degree of cerebellar atrophy and a broad spectrum of associated symptoms, including muscular involvement, movement disorders, neurosensory loss, cognitive impairment, psychiatric symptoms and epilepsy. In this report, we describe, for the first time, a case of photoparoxysmal response in a female patient with a mutation in ADCK3.

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The COVID-19 pandemic has changed individuals' lifestyles to a great extent, particularly in Italy. Although many concerns about it have been highlighted, its impact on children and adolescents has scarcely been examined. The purpose of this study was to explore behavioral consequences and coping strategies related to the pandemic among families in Italy, by focusing on developmental ages from the caregivers' perspective, 3 weeks into quarantine.

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Background And Objectives: The number of preterm babies is steadily growing world-wide and these neonates are at risk of neuro-motor-cognitive deficits. The observation of spontaneous movements in the first three months of age is known to predict such risk. However, the analysis by specifically trained physiotherapists is not suited for the clinical routine, motivating the development of simple computerized video analysis systems, integrated with a well-structured Biobank to make available for preterm babies a growing service with diagnostic, prognostic and epidemiological purposes.

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Neuronal growth regulator 1 (NEGR1), a member of the immunoglobulin superfamily cell adhesion molecule subgroup IgLON, has been involved in neuronal growth and connectivity. Genetic variants, in or near the NEGR1 locus, have been associated with obesity and, more recently, with learning difficulties, intellectual disability, and psychiatric disorders. Here, we described the only second report of NEGR1 gene disruption in 1p31.

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Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropathy and T-cell deficiency. Neurologic manifestations include microcephaly, cognitive impairment, migraine-like headaches and cerebrovascular manifestations such as cerebral atherosclerotic vascular disease and reversible cerebral vasoconstriction.

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Background: Early exposure to nociceptive events may cause brain structural alterations in preterm neonates, with long-lasting consequences on neurodevelopmental outcome. Little is known on the extent to which early pain may affect brain connectivity. We aim to evaluate brain functional connectivity changes in preterm neonate that underwent multiple invasive procedures during the postnatal period, and to correlate them with the neurodevelopmental outcome at 24 months.

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