Publications by authors named "Giorgia Aprile"

Background: Face-to-face visual contact is a key component of the early parent-child interaction, therefore a visual impairment condition of the parent or the child represents a risk factor for dyadic patterns' development.

Aims: The study presents a critical single case of a blind father and a 18-month-old visually impaired child. The study aims to explore changes in the relational functioning of this dyad during an early family-centered intervention.

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Cerebral Visual Impairment (CVI) has become the leading cause of children’s visual impairment in developed countries. Since CVI may negatively affect neuropsychomotor development, an early diagnosis and characterization become fundamental to define effective habilitation approaches. To date, there is a lack of standardized diagnostic methods to assess CVI in children, and the role of visual functions in children’s neuropsychological profiles has been poorly investigated.

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Article Synopsis
  • A comprehensive assessment of visual functioning in young children helps identify visual impairments and tailor rehabilitation programs, leading to the development of a new clinical tool called the Visual Function Score (VFS).
  • The VFS was tested on 100 visually impaired children and consists of a 51-item protocol that generates sub-scores and a global score (0 to 100) for a detailed quantitative evaluation.
  • This tool effectively differentiates types of visual impairments and considers environmental factors, making it key for tracking patient progress and optimizing rehabilitation strategies over time.
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Purpose: To investigate the course of inherited retinal degenerations (IRD) due to mutations in the RPE65 gene.

Methods: This longitudinal multicentric retrospective chart-review study was designed to collect best corrected visual acuity (BCVA), Goldman visual field, optical coherence tomography (OCT), and electroretinography (ERG) measurements. The data, including imaging, were collected using an electronic clinical research form and were reviewed at a single center to improve consistency.

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Background: Parent-child interaction is essential to promote adaptive emotional, cognitive, and social development. The majority of previous research on parent-child interaction is largely dependent on face-to-face exchanges that require the interactive partners to visually recognize reciprocal communicative bids. Therefore, previous findings in the field can only partially apply to the early interactive patterns occurring between visually impaired infants and their parents.

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The acquisition of spatial cognition is essential for both everyday functioning (e.g., navigation) and more specific goals (e.

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Congenital visual impairment may have a negative impact on spatial abilities and result in severe delays in perceptual, social, motor, and cognitive skills across life span. Despite several evidences have highlighted the need for an early introduction of re-habilitation interventions, such interventions are rarely adapted to children's visual capabilities and very few studies have been conducted to assess their long-term efficacy. In this work, we present a case study of a visually impaired child enrolled in a newly developed re-habilitation intervention aimed at improving the overall development through the diversification of re-habilitation activities based on visual potential and developmental profile, with a focus on spatial functioning.

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The huge contribution of advances in the pediatric neurosciences, improvements in clinical practice, and new therapeutic options, has led to the development of new models of treatment and rehabilitation for dystonia in the last decade. It is now generally agreed that a multidimensional therapeutic approach is needed for children with motor disorders, whose motor function-conceived as a complex perceptive, motor and cognitive process - is impaired at a crucial time in their development, with a fall out on how their various adaptive functions evolve. Neurophysiological studies, modern neuroimaging techniques, and advances in cognitive psychology have all contributed to improving our understanding of the potential effects of treatments in early age - not only on the symptoms, but also on plasticity processes and neuronal reorganization.

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Background: Effective drugs for type 1A Charcot-Marie-Tooth (CMT1A) disease are not available. Various forms of moderate exercise are beneficial, but few data are available on the effectiveness of exercise in CMT1A children.

Aim: To investigate the feasibility and effectiveness of exercises to improve ankle strength and limb function in a child with CMT1A.

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