Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.

The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF).

Exploring maternal touch in the infant's first 18 months of Life: A study on an Italian sample.

Affective touch is a crucial component of caregiving in early life and constitutes a key factor with a significant impact on infant later-life outcomes. The Parent-Infant Caregiving Touch Scale (PICTS) allows to quantify and qualify the caregiver's self-perception of touch in the first months of an infant's life. In the current study, we contributed to validation of the PICTS in the Italian language in order to explore whether early maternal touch would be associated with maternal emotional state, maternal history of affective touch experiences throughout the lifespan, and infants' sex and age.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.

Collagen VI is a heterotrimeric protein expressed in several tissues and involved in the maintenance of cell integrity. It localizes at the cell surface, creating a microfilamentous network that links the cytoskeleton to the extracellular matrix. The heterotrimer consists of three chains encoded by , and genes.

A Preliminary Longitudinal Study on Infant-Directed Speech (IDS) Components in the First Year of Life.

Infant-directed speech (IDS) is an essential factor of mother-infant interaction and facilitates early language processing and word learning during dyadic interactions. This study aimed to longitudinally investigate emotional and prosodic components of IDS in the first year of life by analyzing children's responses to the different prosodic trends that mothers use during the observation of mother-child interactions. Seventeen mothers and infants were recruited for this study during their first hospitalization.

On the potential of drug repurposing in dysphagia treatment: New insights from a real-world pharmacovigilance study and a systematic review.

Polypharmacy is common in patients with dysphagia. Routinely used drugs may influence swallowing function either improving or worsening it. We aimed to explore the potential effects of three commonly used drug classes on dysphagia and aspiration pneumonia through a systematic review and a real-world data analysis to probe the possibility of drug repurposing for dysphagia treatment.

Etiology and duration of the disease in the assessment of intellectual functioning of pediatric patients with epilepsy: An observational study.

Childhood epilepsy can be frequently associated with impaired cognitive functioning. Previous research has suggested an increased risk of cognitive impairment that may be related to the etiology, the electro-clinical pattern and the load of anti-seizure medications (ASMs). The aim of this study was to evaluate the impact of different clinical features on the global intellectual functioning in a cohort of children and adolescents with epilepsy.

Environmental effects on brain functional networks in a juvenile twin population.

The brain's intrinsic organization into large-scale functional networks, the resting state networks (RSN), shows complex inter-individual variability, consolidated during development. Nevertheless, the role of gene and environment on developmental brain functional connectivity (FC) remains largely unknown. Twin design represents an optimal platform to shed light on these effects acting on RSN characteristics.

Autism and Neurodevelopmental Disorders: The SARS-CoV-2 Pandemic Implications.

The Special Issue (SI) "Autism and Neurodevelopmental Disorders: The SARS-CoV-2 Pandemic Implications" is an interesting project that adopted a scientific point of view with important implications in clinical and practical fields [...

Continuous Real-Time Neuropsychological Testing during Resection Phase in Left and Right Prefrontal Brain Tumors.

Background: Executive functions are multi-component and are based on large-scale brain networks. For patients undergoing brain surgery in the prefrontal cortex, resection in the anterior prefrontal sites is assisted by continuous monitoring of their performance on several tasks measuring components of executive functions. In this study, we did not test patients during direct cortical stimulation, but during resection itself.

Prelinguistic intersubjective and socio-communicative skills in infants with neurodevelopmental disabilities aged 0-36 months: A new assessment and parent support tool.

Background: Although children with neurodevelopmental disability (NDD) present with several deficits, they partially share developmental impairments in prelinguistic intersubjective and socio-communicative skills, which are not easily assessed by conventional tests during the first years of life.

Aim: The current paper presents a new procedure to assess the prelinguistic intersubjective and socio-communicative skills of NDD children aged 0-36 months. A specific observation form template, called the Observation of Prelinguistic Intersubjective and Socio-Communicative Skills (OPISCoS) form, has been designed to systematically detect infant skills during daily routines (e.

Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.

Background: Individuals with the 2p15p16.1 microdeletion syndrome share a complex phenotype including neurodevelopmental delay, brain malformations, microcephaly, and autistic behavior. The analysis of the shortest region of overlap (SRO) between deletions in ~ 40 patients has led to the identification of two critical regions and four strongly candidate genes (BCL11A, REL, USP34 and XPO1).

Mother and father interaction with their 3-month-old infants: Similarities and differences in parenting behaviour in well-resourced parents.

Infancy is characterized by intensive parenting which may affect later child development. However, little is known about similarities and differences in maternal and paternal parenting behaviour, as the majority of the studies have mainly focused on mothers. The present study investigated similarities and differences in mothers' and fathers' parenting behaviour during parent-infant interaction in 56 mothers and 56 fathers of 3-months-old infants in a good-resourced sample.

Perampanel as precision therapy in rare genetic epilepsies.

Objective: Perampanel, an antiseizure drug with α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ-aminobutyric acid inhibition (e.g.

Exploring telediagnostic procedures in child neuropsychiatry: addressing ADHD diagnosis and autism symptoms through supervised machine learning.

Recently, there has been an increase in telemedicine applied to child neuropsychiatry, such as the use of online platforms to collect remotely case histories and demographic and behavioral information. In the present proof-of-concept study, we aimed to understand to what extent information parents and teachers provide through online questionnaires overlaps with clinicians' diagnostic conclusions on attention-deficit/hyperactivity disorder (ADHD). Moreover, we intended to explore a possible role that autism spectrum disorders (ASD) symptoms played in this process.

Effect of Dexmedetomidine versus Propofol on Intraoperative Seizure Onset During Awake Craniotomy: A Retrospective Study.

Objective: The effect of dexmedetomidine (DEX) compared with propofol on intraoperative seizures (IOSs) detected using electrocorticography during awake craniotomy for resection of brain tumors is unknown. This investigation aimed to compare IOS rate in patients receiving DEX versus propofol as sedative agent.

Methods: In this retrospective single-center study, awake craniotomies performed from January 2014 to December 2019 were analyzed.

A machine learning approach on whole blood immunomarkers to identify an inflammation-associated psychosis onset subgroup.

Psychosis onset is a transdiagnostic event that leads to a range of psychiatric disorders, which are currently diagnosed through clinical observation. The integration of multimodal biological data could reveal different subtypes of psychosis onset to target for the personalization of care. In this study, we tested the existence of subgroups of patients affected by first-episode psychosis (FEP) with a possible immunopathogenic basis.

High-Risk Siblings without Autism: Insights from a Clinical and Eye-Tracking Study.

Joint attention (JA)-the human ability to coordinate our attention with that of other people-is impaired in the early stage of Autism Spectrum Disorder (ASD). However, little is known about the JA skills in the younger siblings of children with ASD who do not develop ASD at 36 months of age [high-risk (HR)-noASD]. In order to advance our understanding of this topic, a prospective multicenter observational study was conducted with three groups of toddlers (age range: 18-33 months): 17 with ASD, 19 with HR-noASD and 16 with typical development (TD).

Dissociations in white matter tracts and neuropsychological findings in a 17 years old patient with Subacute sclerosing panencephalitis.

The present multimodal diffusion tensor imaging and neuropsychological study investigated the integrity of the white matter fascicles in a 17 years-old patient diagnosed with subacute sclerosing panencephalitis (SSPE). A brief neuropsychological testing showed that word and pseudoword repetition, naming, semantic and phonological fluency, long-term memory, working memory were impaired. A review of the literature on Diffusion weighted imaging (DWI) and Diffusion Tensor Imaging (DTI) evidenced that, studies investigating the integrity of white matter in this condition being a rare disease, are very few.

Association between Perceived Health-Related Quality of Life and Depression with Frailty in the FRASNET Study.

Frailty is a major challenge facing the aging world. The phenotype of the frail subject is still far from being satisfactorily defined. We report data on mood, cognition, and quality of life (QoL) in relation to anamnestic factors, health, and socio-economic status in the FRASNET geriatric population (1204 subjects in stable health conditions), which is an observational cohort study that includes fairly balanced groups of Italian frail (421, 35%), pre-frail (449, 37.

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.

Background: Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or not to DS: the study of PT21 cases is an invaluable model for addressing genotype-phenotype correlation in DS. Previous works reported systematic reanalyses of 132 subjects with PT21 and allowed the identification of a 34-kb highly restricted DS critical region (HR-DSCR) as the minimal region whose duplication is shared by all PT21 subjects diagnosed with DS.

An immersive virtual reality-based application for treating ADHD: A remote evaluation of acceptance and usability.

Introduction: Virtual reality (VR) is a digital technology currently considered to implement rehabilitation programs for children with ADHD, a disorder characterised by inattention, overactivity and impulsiveness. This study presents the results of the acceptance and usability of a VR application developed for children with ADHD aiming to provide an environment capable of supporting the development of the different attentional components. Due to COVID-19 restrictions, this study had the secondary aim of assessing whether a remote evaluation was feasible and meaningful.

Relations between bedtime parenting behaviors and temperament across 14 cultures.

Objectives: The present study examined parental sleep-supporting practices during toddlerhood in relation to temperament across 14 cultures. We hypothesized that passive sleep-supporting techniques (e.g.

Exploring the underlying mechanisms of drug-induced impulse control disorders: a pharmacovigilance-pharmacodynamic study.

Introduction: Impulse control disorders (e.g. pathological gambling, hypersexuality) may develop as adverse reactions to drugs.