Pretend play in children with a congenital visual impairment.

Background: Modern theories embrace a conception of pretend play as a behavior closely related to exploration, curiosity, and the affective domain, as well as problem solving and creative thinking. Although a widely studied construct, pretend play in children with a visual impairment has received little research attention.

Objective: This study examined the influence of congenital visual impairments on symbolic skills by comparing differences in pretend play between 31 children (aged 3-9 years) with moderate to severe visual impairment or blindness with typically developing peers.

Autonomy in children and adolescents with visual impairment: Validation of the Visual Impairment Developmental Autonomy scale.

Aim: To validate the Visual Impairment Developmental Autonomy (VIDA) scale, a questionnaire to assess the autonomy level of children with visual impairment.

Method: The primary outcome measures included internal consistency, convergent validity, cross-informant concordance, and descriptive statistics of autonomy profiles across three age groups (age 3-5 years; age 6-10 years; age 11-18 years). Internal consistency was assessed using Cronbach's Alpha coefficient.

Biological pathways leading to septo-optic dysplasia: a review.

Background: The precise etiology of septo-optic dysplasia (SOD) remains elusive, to date a complex interaction between genetic predisposition and prenatal exposure to environmental factors is believed to come into play. Being SOD such a heterogeneous condition, disruption of many developmental steps in the early forebrain development might occur. The knowledge of genes possibly determining SOD phenotype should be improved, therefore in this review the authors attempt to highlight the genetic pathways and genes related to this clinical condition.

A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.

Background: ZMYM2 heterozygous pathogenic variants cause an ultra-rare disease characterized by a broad clinical phenotype. This condition has been named neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC, MIM#619522). Associated anomalies include congenital abnormalities of the kidney and urinary tract (CAKUT), non-specific facial, cardiac, and skeletal abnormalities, along with a variety of neurodevelopmental disorders.

Sleep profile in patients with septo-optic-pituitary dysplasia: protocol for a prospective cohort study.

Introduction: Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions and reduced sleep efficiency. These manifestations are believed to be closely linked to both structural and functional abnormalities associated with SOD, potentially disrupting the natural circadian rhythm.

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS panels, whereas exome sequencing (ES) has occasionally been employed. In this multicentre study, we investigated by ES the detection yield, mutational spectrum and genotype-phenotype correlations in a CC cohort recruited between 2020 and mid-2022. The cohort consisted of 67 affected individuals from 51 unrelated families and included both non-syndromic (75%) and syndromic (25%) phenotypes, with extra-CC ocular/visual features present in both groups (48% and 76%, respectively).

Gaze Orienting in the Social World: An Exploration of the Role Played by Caregiving Vocal and Tactile Behaviors in Infants with Visual Impairment and in Sighted Controls.

Infant attention is a cognitive function that underlines sensory-motor integration processes at the interface between the baby and the surrounding physical and socio-relational environment, mainly with the caregivers. The investigation of the role of non-visual inputs (i.e.

Sensorimotor Oscillations in Human Infants during an Innate Rhythmic Movement.

The relationship between cerebral rhythms and early sensorimotor development is not clear. In recent decades, evidence revealed a rhythmic modulation involving sensorimotor processing. A widely corroborated functional role of oscillatory activity is to coordinate the information flow across sensorimotor networks.

Blindness affects the developmental trajectory of the sleeping brain.

Sleep plays a crucial role in brain development, sensory information processing, and consolidation. Sleep spindles are markers of these mechanisms as they mirror the activity of the thalamocortical circuits. Spindles can be subdivided into two groups, slow (10-13 Hz) and fast (13-16 Hz), which are each associated with different functions.

Visual Function and Neuropsychological Profiling of Idiopathic Infantile Nystagmus.

Though considered a benign condition, idiopathic infantile nystagmus (IIN) may be associated with decreased visual acuity and oculo-motor abnormalities, resulting in developmental delays and poor academic performance. Nevertheless, the specific visual function profile of IIN and its possible impact on neuropsychological development have been poorly investigated. To fill this gap, we retrospectively collected the clinical data of 60 children presenting with IIN over a 10-year period (43 male; mean age of 7 years, range of 2 months-17 years, 9 months).

Visual function in children with Joubert syndrome.

Aim: To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.

Method: This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years 3 months, range 4 months to 23 years) diagnosed with Joubert syndrome from January 2002 to December 2020. Data about clinical (neurological, neuro-ophthalmological, developmental/cognitive) and diagnostic (e.

Clinical assessment of the TechArm system on visually impaired and blind children during uni- and multi-sensory perception tasks.

We developed the TechArm system as a novel technological tool intended for visual rehabilitation settings. The system is designed to provide a quantitative assessment of the stage of development of perceptual and functional skills that are normally vision-dependent, and to be integrated in customized training protocols. Indeed, the system can provide uni- and multisensory stimulation, allowing visually impaired people to train their capability of correctly interpreting non-visual cues from the environment.

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.

Patient- and parent-reported outcome measures of developmental adaptive abilities in visually impaired children: The Visual Impairment Developmental Autonomy (VIDA) scale.

In the pediatric context, parents' and patients' engagement in the care process is strongly recommended and could be pursued using patient-reported outcome measures (PROMs), which therefore become useful for planning and monitoring treatments. Nevertheless, few data are available from families of children with neurodevelopmental disorders such as visual impairment (VI). The Visual Impairment Developmental Autonomy (VIDA) project aims to develop and validate a patient- and parent-reported tool to measure the most relevant aspects concerning everyday adaptive abilities in children and adolescents with visual impairment: the VIDA scale.

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.

Multisystemic Increment of Cortical Thickness in Congenital Blind Children.

It has been shown that the total or partial lack of visual experience is associated with a plastic reorganization at the brain level, more prominent in congenital blind. Cortical thickness (CT) studies, to date involving only adult subjects, showed that only congenital blind have a thicker cortex than age-matched sighted population while late blind do not. This was explained as a deviation from the physiological mechanism of initial neural growth followed by a pruning mechanism that, in congenital blind children, might be reduced by their visual deprivation, thus determining a thicker cortex.

Sensitive period for the plasticity of alpha activity in humans.

Visual experience is crucial for the development of neural processing. For example, alpha activity development is a vision-dependent mechanism. Indeed, studies report no alpha activity is present in blind adults.

WITHDRAWN: Schuurs-Hoeijmakers syndrome: Severe expression of the recurrent PACS1 c.607C>T mutation.

This article has been withdrawn at the request of the authors. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.

Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.

One of the critical events that regulates muscle cell differentiation is the replacement of the lamin B receptor (LBR)-tether with the lamin A/C (LMNA)-tether to remodel transcription and induce differentiation-specific genes. Here, we report that localization and activity of the LBR-tether are crucially dependent on the muscle-specific chaperone HSPB3 and that depletion of HSPB3 prevents muscle cell differentiation. We further show that HSPB3 binds to LBR in the nucleoplasm and maintains it in a dynamic state, thus promoting the transcription of myogenic genes, including the genes to remodel the extracellular matrix.

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.

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.

Predictive validity for the clinical diagnosis of a new parent questionnaire, the CABI, compared with CBCL.

Background: The questionnaires completed by the parents give a first general information on the behavioral problems of the child-adolescent, as a useful orientation to the clinical evaluation. The Child and Adolescent Behavior Inventory (CABI) is a 75-item parent questionnaire, which explores a large number of problem areas. The study of its predictive validity for the clinical diagnosis, in comparison with the Diagnostic and Statistical Manual of Mental Disorders ()-oriented scales of the Child Behavior Checklist (CBCL), can assess whether its use may be advantageous.

Defective ribosomal products challenge nuclear function by impairing nuclear condensate dynamics and immobilizing ubiquitin.

Nuclear protein aggregation has been linked to genome instability and disease. The main source of aggregation-prone proteins in cells is defective ribosomal products (DRiPs), which are generated by translating ribosomes in the cytoplasm. Here, we report that DRiPs rapidly diffuse into the nucleus and accumulate in nucleoli and PML bodies, two membraneless organelles formed by liquid-liquid phase separation.