Assessment of early attention in an Italian cohort of preschooler preterm children using the Early Childhood Attention Battery.

Purpose: This cross-sectional monocentric study aims to utilize the Early Childhood Attention Battery to investigate early attention patterns in young preterm children and ascertain the extent to which their attentional abilities diverge from those of term peers.

Methods: Inclusion criteria encompassed gestational age < 34 weeks, with assessments conducted between 3 and 5 years 11 months. Exclusion criteria included major brain lesions, significant motor or behavioral disorders, and intellectual functioning with IQ < 70.

pCO2 values in asphyxiated infants under therapeutic hypothermia after tailored respiratory management: a retrospective cohort study.

Background: Hypoxic-ischemic encephalopathy (HIE) represents one of the major causes of neonatal death and long-term neurological disability. Both hypoxic-ischemic insults and therapeutic hypothermia (TH) can affect respiratory function. Currently, there is no evidence regarding optimal respiratory management in these infants.

Neurological assessment tool for screening infants during the first year after birth: The Brief-Hammersmith Infant Neurological Examination.

Aim: To develop a short version of the original Hammersmith Infant Neurological Examination (HINE) to be used as a screening tool (Brief-HINE) and to establish if the short examination maintains good accuracy and predictive power for detecting infants with cerebral palsy (CP).

Method: Eleven items were selected from the original HINE ('visual response'; 'trunk posture'; 'movement quantity'; 'movement quality'; 'scarf sign'; 'hip adductor angles'; 'popliteal angle'; 'pull to sit'; 'lateral tilting'; 'forward parachute reaction'; 'tendon reflexes') identifying those items previously found to be more predictive of CP in both low- and high-risk infants. In order to establish the sensitivity of the new module, the selected items were applied to existing data, previously obtained using the full HINE at 3, 6, 9, and 12 months, in 228 infants with typical development at 2 years and in 82 infants who developed CP.

GABRA1-Related Disorders: From Genetic to Functional Pathways.

Objective: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyze the electroclinical features and the functional effects of GABRA1 variants to establish genotype-phenotype correlations.

Visual Function in Children with GNAO1-Related Encephalopathy.

Background: GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit α of G-proteins. These conditions are characterized by epilepsy, movement disorders and developmental impairment, in combination or as isolated features.

Objective: This study aimed at describing the profile of neurovisual competences in children with GNAO1 deficiency to better characterize the phenotype of the disease spectrum.