Video-feedback intervention for promoting social engagement in children with neurodevelopmental disabilities.

Introduction: Children with neurodevelopmental disabilities (NDs) display several developmental impairments across various domains that impact parent-child interactions, emphasizing the need for effective early interventions. This multi-centric study aimed to evaluate the impact of video-feedback intervention (VFI) on enhancing maternal behavior (i.e.

Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.

Introduction: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous monogenic autoinflammatory disorder classified as an 'interferonopathy'. Nine genes have been implicated in AGS, encoding proteins involved in nucleic acid clearance, repair, sensing, or histone pre-mRNA processing. Dysregulation in these pathways leads to excessive type I interferon production, the primary driver of the disease.

Effects of a video-feedback intervention on parenting behavior and state anxiety in mothers of children with neurodevelopmental disabilities.

Neurodevelopmental disability (ND) poses a significant challenge to infants' socio-emotional and cognitive development, as well as to caregiving dynamics, such as parental sensitivity and mother-infant interaction. Prior research highlights the crucial role of early parenting support interventions in enhancing parental behaviors, serving as a protective developmental factor for children at risk for or diagnosed with ND. This single-cohort, multicentric study aims to evaluate the efficacy of early video-feedback intervention (VFI) in improving maternal parenting behaviors.

Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experience.

Sydenham's chorea (SC), an autoimmune disorder affecting the central nervous system, is a pivotal diagnostic criterion for acute rheumatic fever. Primarily prevalent in childhood, especially in developing countries, SC manifests with involuntary movements and neuropsychiatric symptoms. Predominantly occurring between ages 5 and 15, with a female bias, SC may recur, particularly during pregnancy or estrogen use.

Pairing transcutaneous vagus nerve stimulation with an intensive bimanual training in children and adolescents with cerebral palsy: study protocol of a randomized sham-controlled trial.

Background: Gross motor function impairments and manual dexterity deficits are frequently observed in children and adolescents with Cerebral Palsy (CP), having a major impact on their activity level and autonomy. Improving manual dexterity and activity level of patients with CP is often the focus of rehabilitation. Novel and adjuvant treatment methods that could support the standard training also in chronic conditions are a research priority.

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised.

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Background: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has limited their use, prompting the development of novel steroid delivery systems. The aim of the ATTeST study was to evaluate the efficacy and safety of intra-erythrocyte delivery of dexamethasone sodium phosphate compared with placebo in children with ataxia telangiectasia.

COVID-19 Pandemic School Disruptions and Acute Mental Health in Children and Adolescents.

Importance: There are suggestions that school pressure may be stressful and a factor in child and adolescent mental health disturbances, but data about this association are scarce and inconclusive.

Objective: To assess whether varying degrees of school interruption were associated with changes in emergency department (ED) psychiatric visits of children and adolescents before and after the COVID-19 outbreak.

Design, Setting, And Participants: A cross-sectional observational study was conducted at 9 urban university hospitals in Italy.

ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.

A heterozygous gain-of-function variant in the acyl-CoA oxidase 1 (ACOX1) gene, c.710A>G (p.Asn237Ser), is known to cause Mitchell syndrome, a very rare progressive disorder characterized by episodic demyelination, sensory polyneuropathy, and hearing loss.

The outcomes of children born to mothers with autoimmune rheumatic diseases.

Maternal autoimmune rheumatic diseases can influence the outcomes of children through several life stages. During pregnancy, maternal inflammation and autoantibodies can hinder fetal development and lead to growth restriction, preterm birth, and low birth weight; prematurity, especially at extreme gestational ages, can in turn impair future child health. Treatment with compatible immunomodulatory drugs and preventive medications aims to keep maternal disease under control and minimise the risk of adverse pregnancy outcomes.

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Background And Objectives: Aicardi Goutières syndrome (AGS) is type I interferonopathy characterized by severe neurologic impairment. Although many children with AGS demonstrate motor and expressive language deficits, the magnitude of receptive language impairment is uncharacterized. We sought to characterize cognitive function in AGS-affected children using assessment tools with reduced dependence on motor abilities and compare cognitive testing outcomes with overall severity and parental assessment of adaptive behavior.

Early onset absence epilepsy of childhood: Epidemiologic data, treatment and outcome in a sample of 56 patients born between 2000 and 2018.

Purpose: The aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology.

Methods: We carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset.

Neurodevelopmental profile in children born to mothers affected by systemic sclerosis.

Background: Systemic sclerosis (SSc) is a chronic immune-mediated connective tissue disease that can affect women of childbearing age. The long-term outcomes of their offspring remain poorly explored. Aim of this study was to detail the neurodevelopmental profile of children born to SSc mothers.

Cognitive approaches in the rehabilitation of upper limbs function in children with cerebral palsy: a systematic review and meta-analysis.

Introduction: Cerebral palsy (CP) is the predominant cause of children disability. It is characterized by motor, sensory, and postural deficits due to a non-progressive injury to the developing central nervous system. In recent years, new rehabilitation techniques targeting the central representations of motor patterns have been introduced: the most used are action observation therapy (AOT), motor imagery (MI), and mirror therapy (MT).

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail.

Academic skills in children with cerebral palsy and specific learning disorders.

Aim: To investigate the prevalence and clinical manifestations of reading, writing, and mathematics disorders in children with cerebral palsy (CP). We explored how the clinical profile of these children differed from those with specific learning disorders (SLDs), taking into account several factors, particularly IQ scores, neuropsychological aspects, and the presence of a visual impairment.

Method: A prospective cross-sectional study was conducted in 42 children with CP (mean age 9 years 8 months; SD = 2 years 2 months) and 60 children with SLDs (mean age 10 years; SD = 1 year 7 months).

Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero.

Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to polydrug-dependent mothers and followed for few months/years. We report the long-term outcomes of two infants with congenital nystagmus solely exposed to methadone in utero.

Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.

Key Clinical Message: Baricitinib, a Janus kinase inhibitor (JAK-inhibitor), seems to contribute to an improvement of a child affected by Aicardi-Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted.

Abstract: We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutières syndrome (AGS2, mutation). Using quantitative measures, we detected a significant amelioration characterized by a complete recovery of cognitive, communicative, and relational skills after 8 and 16 months from the beginning of therapy.

Risk and protective factors associated with mental health status in an Italian sample of students during the fourth wave of COVID-19 pandemic.

Background: It is well known that the COVID-19 pandemic has caused a global health crisis, especially for young people. However, most studies were conducted during the first waves of the pandemic. Few Italian studies specifically attempted to broadly assess young people's mental health status during the fourth wave of the pandemic.

Object identification in cerebral visual impairment characterized by gaze behavior and image saliency analysis.

Individuals with cerebral visual impairment (CVI) have difficulties identifying common objects, especially when presented as cartoons or abstract images. In this study, participants were shown a series of images of ten common objects, each from five possible categories ranging from abstract black & white line drawings to color photographs. Fifty individuals with CVI and 50 neurotypical controls verbally identified each object and success rates and reaction times were collected.