Impact of Congenital Visual Impairment on Early-Life Exploration: Behavioral Analysis of Temporal and Motor Parameters During a Reach-to-Grasp Playful Task.

Reach-to-grasp behavior is a key developmental milestone in infants, involving coordinated actions such as arm transport, hand pre-shaping, and hand opening and closing. Vision guides the development of these skills, and delays in visual input can impact infants with early visual impairments. However, the effects of a congenital visual impairment on reach-to-grasp behavior in early life remain largely unexplored.

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

Purpose: Collagen type 4 alpha 1 (COL4A1) and alpha 2 (COL4A2) chains, encoded by COL4A1 and COL4A2, are essential for basement membrane integrity, contributing to structural stability and cell regulation. Pathogenic variants in these genes cause a spectrum of autosomal dominant and, more rarely, autosomal recessive disorders, which are collectively known as COL4A1/A2-related disorders. These multisystem disorders can include neurologic, ophthalmologic, renal, and other organ system pathology and vary widely in symptoms, complicating diagnosis and management.

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.

Perspectives on Personalized Treatment in Difficult-to-Treat Depression: A Case Report.

This case highlights the unique challenge of difficult-to-treat depression (DTD), a complex condition that distinguishes itself from treatment-resistant depression (TRD) due to its multifaceted nature. DTD is characterized by comorbidities, childhood trauma, symptomatic variability, personal history, substance use, and adherence issues, presenting a significant clinical challenge. Unlike TRD, typically defined by the failure of at least two adequate pharmacological treatments, DTD requires a more comprehensive approach.

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Splice-altering variants are suggested to be responsible for part of the missing heritability of inherited retinal diseases (IRDs). The interpretation of these variants is challenging as functional evidence is required to validate pathogenicity. We explored the diagnostic value of a targeted long-read cDNA sequencing (lrcDNA-seq) approach to investigate IRD-associated splicing defects.

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.

From motion to interaction: How multisensory information shapes motor behaviors in children with visual impairment.

Background: The ability to move independently enables children to develop perceptual, cognitive, and social interaction skills. Concerning this, vision holds a key role. As a result, children with visual impairment (VI) might be more challenged in their ability to move within their surroundings and interact with their caregivers.

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

A narrow spectrum of heterozygous variants in RNU4-2, encoding the small nuclear RNA (snRNA) U4, underlies ReNU syndrome, a neurodevelopmental disorder (NDD) characterized by moderate to severe developmental delay (DD), intellectual disability (ID), a distinctive facial gestalt, and multisystem involvement. Pathogenic variants have primarily been reported within an 18-nt critical region contributing to stabilizing the U4/U6 snRNA duplex and proper spliceosome assembly. By combining whole genome sequencing reanalysis and targeted direct sequencing in 190 molecularly unexplained NDD cases, we report on five affected individuals carrying pathogenic/putative pathogenic RNU4-2 variants (2.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

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 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.

Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose paradigmatic sign is a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign'. Recessive pathogenic variants in the gene are associated with hydrolethalus syndrome (HLS), a severe disorder characterised by multiple developmental defects leading to intrauterine or perinatal death. However, biallelic variants were also reported in three individuals with JS.

Bridging early life trauma to difficult-to-treat depression: scoping review.

Aims And Method: Accumulating evidence suggests that early life trauma (ELT) initiates and perpetuates a cycle of depression, leading to challenges in management and achieving remission. This scoping review aimed to examine the intricate relationship between ELT and difficult-to-treat depression (DTD). An extensive literature search from 1 January 2013 to 21 October 2023 was conducted using the Cochrane Library, PubMed, Scopus, PsycINFO and OpenGrey.

Inflammatory biomarkers in depression: scoping review.

Background: Inflammation is increasingly recognised as a fundamental component of the pathophysiology of major depressive disorder (MDD), with a variety of inflammatory biomarkers playing pivotal roles. These markers are closely linked to both the severity of symptoms and the responsiveness to treatments in MDD.

Aims: This scoping review aims to explore the scientific literature investigating the complex relationships between inflammatory biomarkers and depression, by identifying new studies and critical issues in current research.

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).

LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Bardet-Biedl syndrome (BBS) is an inherited ciliopathy affecting multiple organs and systems with wide clinical and genetic heterogeneity. To date, biallelic variants of the LZTFL1 gene have been reported only in six patients with BBS. We identified a homozygous LZTFL1 nonsense variant in a boy presenting with classical BBS features.

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.

[Appreciation index of multifamily psychoanalysis within a territorial Mental Health Service.].

Aim: The aim of the present research is to assess the satisfaction levels of participants in a multifamily psychoanalysis group conducted within a territorial mental health service, following the model developed by Argentine psychoanalyst Jorge García Badaracco.

Methods: To evaluate participant satisfaction in the therapeutic group, an anonymous satisfaction questionnaire was adopted and administered during each multifamily therapy session between 2016 and 2019. The sample consisted of designated patients and their family members participating in the groups.

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.