Background: The use of video games in rehabilitation settings is gaining increasing popularity. However, the lack of commercial video games suitable for children with disabilities and the disappointing user experience of serious games limit their applicability. The aim of this study was to assess the usability, acceptability and user experience of GiocAbile, an active video game for children with cerebral palsy (CP).
View Article and Find Full Text PDFZinc (Zn) is a trace element involved in numerous physiological processes, including enzyme function, gene transcription, and cell signaling. Its importance is especially pronounced in preterm infants, who are at high risk of Zn deficiency due to disrupted transplacental transfer, high nutrient demands, and medical complications. The inherent risk of Zn deficiency in this population is further increased by poor Zn dietary intake.
View Article and Find Full Text PDF: Chiari malformation type 1 (CM-1) involves the cerebellar tonsils' descent below the foramen magnum. In Chiari malformation type 1.5 (CM-1.
View Article and Find Full Text PDFObjective: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques.
Methods: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome.
Objective: Cerebral cavernous malformations (CCMs) are cerebral vascular lesions that occasionally occur with seizures. We present a retrospective case series from IRCCS Gaslini Children's Hospital, a systematic review, and meta-analysis of the literature with the goal of elucidating the post-surgery seizure outcome in children with CCMs.
Methods: a retrospective review of children with cavernous malformation related epilepsy who underwent surgery at Gaslini Children's Hospital from 2005 to 2022 was conducted.
Background: The gut microbiota is a key determinant of long-term health. Promoting maternal health literacy may enhance children well-being. Aim of the present study was to assess gut microbiota-related health literacy of Italian women and identify potential gaps in awareness.
View Article and Find Full Text PDFObjective: Negative MRI and an epileptogenic zone (EZ) adjacent to eloquent areas are two main issues that can be encountered during pre-surgical evaluation for epilepsy surgery. Focal Cortical Dysplasia type II (FCD type II) is the most common aetiology underlying a negative MRI. The objective of this study is to present three cases of pediatric patients exhibiting negative MRI and a seizure onset zone close to eloquent areas, who previously underwent traditional open surgery or SEEG-guided radiofrequency thermocoagulations (RF-TC).
View Article and Find Full Text PDFThe purpose of the present study was to evaluate the prevalence of early adiposity rebound (EAR) and factors associated with its occurrence in a cohort of extremely low birth weight infants (ELBW). We conducted a retrospective longitudinal study including ELBW infants followed-up for up to 10 years after discharge. EAR was defined as occurring before 5 years of age.
View Article and Find Full Text PDFPurpose: Several surgical options are available for treating hypothalamic hamartoma-related epilepsy but their respective efficacy and safety profiles are poorly defined.
Methods: A literature search identified English-language articles reporting series of patients (minimum 3 patients with a follow-up ≥12 months) operated on by either microsurgery, endoscopic surgery, radiosurgery, radiofrequency thermocoagulation or laser interstitial thermal therapy for hypothalamic hamartoma-related epilepsy. The unit of analysis was each selected study.
Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients.
View Article and Find Full Text PDFLaser ablation for treatment of hypothalamic hamartoma (HH) is a minimally invasive and effective technique used to destroy hamartomatous tissue and disconnect it from the functioning brain. Currently, the gold standard to evaluate the amount of tissue being "burned" is the use of heat maps during the ablation procedure. However, these maps have low spatial resolution and can be misleading in terms of extension of the tissue damage.
View Article and Find Full Text PDFBackground And Objectives: Very low birth weight infants (VLBW) are at risk for adverse growth and neurodevelopmental outcomes. We aimed to evaluate the association between growth during Neonatal Intensive Care Unit (NICU) stay and long-term neurodevelopmental outcomes in a cohort of preterm VLBW newborns.
Methods: We conducted a longitudinal observational study in the Follow-up Service of our Clinic from January 2014 to April 2017.
One of the neonatologist's greatest challenges is ensuring that the premature infant has adequate growth and is provided with a correct supply of nutrients. Thanks to the establishment of the INTERGROWTH-21st Preterm Postnatal Growth Standards, created longitudinally and prospectively on healthy premature babies, it now appears evident that preterms' growth follows a pattern different from that of a fetus of the same gestational age. In addition to growth, defined solely as weight gain, further significance must be given to the quality of growth, that is, lean mass apposition.
View Article and Find Full Text PDFBackground: Cepacia syndrome (CS) is an acute, necrotizing pneumonia with a high mortality rate, occurring in patients with cystic fibrosis (CF) infected with Burkholderia cepacia complex (BCC). Due to its low incidence, data on this condition are limited.
Methods: We conducted a systematic review of the reported cases of CS by searching MEDLINE, Embase and the Cochrane Library to improve knowledge of this rare but potentially lethal condition.
Purpose: Craniopharyngiomas (CPGs) are aggressive brain tumors responsible of severe morbidity in children. The best treatment strategies are under debate. Our study evaluates surgical, pituitary, and hypothalamic outcomes of a tailored staged-surgical approach compared to a single-stage radical approach in children with CPGs.
View Article and Find Full Text PDFObjectives: Cerebral hyaline protoplasmic astrocytopathy (HPA) is a clinicopathologic entity characterized by eosinophilic cytoplasmic inclusions within astrocytes. It has been observed in a subset of patients with early-onset epilepsy, brain malformations, and developmental delay. The exact association of this entity with epilepsy is still unknown.
View Article and Find Full Text PDFBackground: Failure to recover growth is a risk reported in late preterm population. This study aimed to evaluate the auxological outcome of late preterm infants and identify factors associated with failure to recover growth.
Methods: We enrolled late preterm infants with birth weight ≤10th percentile, followed up at High-Risk Infant Follow-up Service.
We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff-Parkinson-White syndrome. Whole-exome sequencing showed a pathogenic variant in the gene, but no mutations were found in pathway genes.
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