Visual Function and Neuropsychological Profile in Children with Cerebral Visual Impairment.

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. In the present paper, we aim to describe the clinical and neuropsychological profiles and to investigate the possible effects of visual functions on neuropsychological performance of a cohort of children diagnosed with CVI. Fifty-one children with CVI were included in our retrospective analysis (inclusion criteria: verbal IQ > 70 in Wechsler scales; absence of significant ocular involvement). For each participant, we collected data on neuropsychological assessment (i.e., cognitive, cognitive visual, and learning abilities), basic visual functions (e.g., Best Corrected Visual Acuity­BCVA, contrast sensitivity, and ocular motor abilities) and global development features (e.g., neurological signs and motor development delay) based on standardized tests, according to patients' ages. The results showed that oculomotor dysfunction involving saccades and smooth pursuit may be a core symptom of CVI and might have a significant impact on cognitive visual and other neuropsychological abilities. Furthermore, visual acuity and contrast sensitivity may influence cognitive, cognitive visual, and academic performances. Our findings suggest the importance of a comprehensive assessment of both visual and neuropsychological functions in children when CVI is suspected, which is needed to provide a more comprehensive functional profile and define the best habilitation strategy to sustain functional vision.

Visual Function Score: A New Clinical Tool to Assess Visual Function and Detect Visual Disorders in Children.

Introduction: A comprehensive assessment of visual functioning at an early age is important not only for identifying and defining visual impairment but also for planning personalized rehabilitation programs based on the visual diagnosis. Since existing tools to evaluate visual functioning present some important limitations (e.g., they are based on qualitative reports, they do not take into account environmental adaptations of visual testing or they have not been formally validated as clinical instruments), the present work has the main aim to propose a new clinical tool (Visual Function Score, VFS) to detect and define visual disorders at an early age. Methods: The Visual Function Score was administered to one hundred visually impaired children (age range 4 months to 17.75 years old) in the form of a professional-reported protocol for a total of 51 items, each of which is assigned a score from 1 to 9 (or from 0 to 9 in some specific cases). The VFS produces three sub-scores and a global score (from 0 to 100), resulting in a quantitative evaluation of visual functioning. Results: The VFS can detect the well-known differences between different types of visual impairment (cerebral, oculomotor, and peripheral or grouped as central and peripheral) and takes into account different environments in the definition of a quantitative score of visual functioning. Discussion: Overall, the use of a quantitative tool to evaluate visual functions and functional vision such as the VFS would be fundamental to monitor the progresses of patients over time in response to rehabilitation interventions.

Case report: Dancing in the dark: A critical single case study engaging a blind father in the rehabilitation journey of his visually impaired child.

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. Methods and procedures: Ten parent-child sessions were videotaped and micro-analytically coded. Data were analyzed through a State Space Grid crossing child's social cues and types of father verbalizations. Outcomes and results: Findings showed a stable increase in the amount of child social cues over time. Moreover, the dyad exhibited progressive changes in dyadic regulation, stability, and organization. The return time to the "active interaction" region of interest decreased progressively. A reduction was observed also for the time spent by the dyad in the region "no vocal contact." Conclusions and implications: This critical single case highlighted the benefits of parental engagement in early interventions for the dyadic regulation in parent-child interaction.

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.

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. Results: From an overall cohort of 60 Italian patients with RPE65-associated IRD, 43 patients (mean age, 27.8 ± 19.7 years) were included and showed a mean BCVA of 2.0 ± 1.0 logMAR. Time-to-event analysis revealed a median age of 33.8 years and 41.4 years to reach low vision and blindness based on BCVA, respectively. ERG (available for 34 patients) showed undetectable responses in most patients (26; 76.5%). OCT (available for 31 patients) revealed epiretinal membranes in five patients (16.1%). Central foveal thickness significantly decreased with age at a mean annual rate of -0.6%/y (P = 0.044). We identified 43 different variants in the RPE65 gene in the entire cohort. Nine variants were novel. Finally, to assess genotype-phenotype correlations, patients were stratified according to the number of RPE65 loss-of-function (LoF) alleles. Patients without LoF variants showed significantly (P < 0.05) better BCVA compared to patients with one or two LoF alleles. Conclusions: We described the natural course of RPE65-associated IRD in an Italian cohort showing for the first time a specific genotype-phenotype association. Our findings can contribute to a better management of RPE65-associated IRD patients.

Togetherness, beyond the eyes: A systematic review on the interaction between visually impaired children and their parents.

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. The present study was aimed to systematically review the available evidence on parent-child interaction in the context of developmental visual impairment. METHODS: Fourteen papers were finally selected after literature search on PubMed and Scopus. Data synthesis was focused on three core topics: visually impaired children's contribution to the interaction, parental caregiving behaviors with visually impaired children, and the association between parents' behaviors and the developmental outcomes of children with visual impairment. RESULTS: Visually impaired children may exhibit reduced reactivity to maternal stimuli and less-than-optimal levels of interactive initiations in social exchanges. Parents of children with visual impairment may use more descriptive communicative acts and greater directiveness compared to mothers of sighted counterparts. Specific caregiving behaviors (e.g., responsiveness and goal setting) of parents of children with visual impairment may significantly support language and socio-emotional development as well as sensorimotor integration. DISCUSSION: Children with visual impairment may be less responsive and they may produce less clear communicative bids while interacting with their parents. Their parents may face specific challenges while engaging with them and they may become increasingly directive and intrusive. Nonetheless, even in the presence of visual impairment, the quality of parental caregiving behaviors appears to play a potential preventive role in the face of children's socio-emotional and cognitive outcomes. These results suggest that early interventions focused on parent-child interactions are especially needed in this population.

Standardized and Experimental Tools to Assess Spatial Cognition in Visually Impaired Children: A Mini-Review.

The acquisition of spatial cognition is essential for both everyday functioning (e.g., navigation) and more specific goals (e.g., mathematics), therefore being able to assess and monitor spatial cognition from the first years of life would be essential to predict developmental outcomes and timely intervene whenever spatial development is compromised. Several shreds of evidence have indicated that spatial development can be compromised in the case of development with atypical sensory experience such as blindness. Despite the massive importance of spatial abilities for the development of psychomotor competencies across childhood, only a few standardized and experimental methods have been developed to assess them in visually impaired children. In this review, we will give a short overview of current formal (standardized) and informal (experimental) methods to assess spatial cognition in visually impaired children, demonstrating that very few validated tools have been proposed to date. The main contribution of this current work is to highlight the need of ad hoc studies to create and validate clinical measures to assess spatial cognition in visually impaired individuals and address potential future developments in this area of research.

A Multidimensional, Multisensory and Comprehensive Rehabilitation Intervention to Improve Spatial Functioning in the Visually Impaired Child: A Community Case Study.

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. We argue that intervention for visually impaired children should be (a) adapted to their visual capabilities, in order to increase re-habilitation outcomes, (b) multi-interdisciplinary and multidimensional, to improve adaptive abilities across development, (c) multisensory, to promote the integration of different perceptual information coming from the environment.

Intensive strength and balance training with the Kinect console (Xbox 360) in a patient with CMT1A.

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. SETTING: Outpatient clinic. POPULATION: Nine-year-old boy with CMT1A. METHODS: The rehabilitation program consisted of ankle exercises and Kinect videogame-directed physical activities (using an Xbox 360 console/movement sensor) that aimed to improve balance and limb strength. The program was given 3 times a week for 5 weeks. The child was assessed at baseline, after 5 weeks, and 3 and 6 months after. RESULTS: By the end of follow-up, child balance and endurance had improved, but ankle strength did not. CONCLUSIONS: The encouraging results for balance and endurance justify further studies on videogame-directed activities in CMT1A children/adolescents.

Outcome measures for children with movement disorders.

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. The International Classification of Functioning, Disability and Health (ICF) promoted by the WHO, and the diffusion of family-centered models of healthcare have underscored the importance of the ecological perspective with a view to providing effective therapies and a satisfactory quality of life for dystonic children and their families. The advances made in this area have made it necessary to study and develope more appropriate treatment outcome measures. In the light of these aspects, there is still not enough literature on the generally-accepted, exhaustive dystonia assessment tools. Given these limits, it might be useful to discuss the strengths and weaknesses of the main tools currently used in this setting.