Effectiveness, implementation settings, and research priorities of telemedicine-delivered interventions for children and adolescents with autism spectrum disorder: A systematic review.

This systematic review aims to examine evidence on telemedicine-delivered interventions for autistic children and adolescents, considering diverse approaches, settings, and modalities used to address core symptoms and co-occurring conditions. A comprehensive search strategy consulted PubMed and PsycInfo databases from inception to March 2023. PROSPERO registration: CRD42023404111.

Prevalence of co-occurring conditions in children and adults with autism spectrum disorder: A systematic review and meta-analysis.

This systematic review estimates the prevalence of co-occurring conditions (CCs) in children and adults with autism. A comprehensive search strategy consulting existing guidelines, diagnostic manuals, experts, carers, and autistic people was developed. PubMed and PsycInfo databases from inception to May 2022 were searched.

Mental Health among Italian Children and Adolescents during and after the SARS-CoV-2 Pandemic: A Professionals' Focus Group Study.

The SARS-CoV-2 pandemic had a negative impact on the mental health of children and adolescents. Eight focus groups and six individual hearings were conducted to gain insights from the perspectives of 97 Italian professionals from a variety of disciplines, including child and adolescent neuropsychiatrists, pediatricians, general practitioners, social workers, psychologists, teachers, school deans, non-governmental organizations, and a researcher. Urban and rural settings were represented.

Building Bricks of Integrated Care Pathway for Autism Spectrum Disorder: A Systematic Review.

An integrated plan within a defined care pathway for the diagnosis, continuative interventions, and periodic redefinition of care of autistic people is essential for better outcomes. Challenges include delivering services across all domains or life stages and effective coordination between health/social care providers and services. Further, in the 'real world', service provision varies greatly, and in many settings is significantly weighted towards diagnosis and children's services rather than treatment and support or adult care.

Technologies to support the diagnosis and/or treatment of neurodevelopmental disorders: A systematic review.

In recent years, there has been a great interest in utilizing technology in mental health research. The rapid technological development has encouraged researchers to apply technology as a part of a diagnostic process or treatment of Neurodevelopmental Disorders (NDDs). With the large number of studies being published comes an urgent need to inform clinicians and researchers about the latest advances in this field.

Benefits and challenges of a personal budget for people with mental health conditions or intellectual disability: A systematic review.

Unlabelled: Personal budgets (PBs) may improve the lives of people with mental health conditions and people with intellectual disability (ID). However, a clear definition of PB, benefits, and challenges is still faded. This work aims to systematically review evidence on PB use in mental health and ID contexts, from both a qualitative and quantitative perspective, and summarize the recent research on interventions, outcomes, and cost-effectiveness of PBs in beneficiaries with mental health conditions and/or ID.

Ultrasonic vocalizations in laboratory mice: strain, age, and sex differences.

Mice produce ultrasonic vocalizations (USVs) in different social contexts across lifespan. There is ethological evidence that pup USVs elicit maternal retrieval and adult USVs facilitate social interaction with a conspecific. Analysis of mouse vocal and social repertoire across strains, sex and contexts remains not well explored.

Validation of PARADISE 24 and Development of PARADISE-EDEN 36 in Patients with Dementia.

Dementia was one of the conditions focused on in an EU (European Union) project called "PARADISE" (Psychosocial fActors Relevant to brAin DISorders in Europe) that later produced a measure called PARADISE 24, developed within the biopsychosocial model proposed in the International Classification of Functioning Disability and Health (ICF). The aims of this study are to validate PARADISE 24 on a wider sample of patients with mild to moderate dementia to expand PARADISE 24 by defining a more specific scale for dementia, by adding 18 questions specifically selected for dementia, which eventually should be reduced to 12. We enrolled 123 persons with dementia, recruited between July 2017 and July 2019 in home care and long-term care facilities, in Italy, and 80 participants were recruited in Warsaw between January and July 2012 as part of a previous cross-sectional study.

Postweaning social isolation and autism-like phenotype: A biochemical and behavioral comparative analysis.

Adolescence is a critical period for brain development. In most mammalian species, disturbances experienced during adolescence constitute a risk factor for several neuropsychiatric disorders. In this study, we compared the biochemical and behavioral profile induced by postweaning social isolation (PWSI) in inbred C57BL/6 N mice with that of BTBR mice, a rodent model of autism spectrum disorders.

The Italian Network for Early Detection of Autism Spectrum Disorder: Research Activities and National Policies.

Background: Well-structured monitoring system is crucial to identify interventions for children with Neurodevelopmental Disorders (NDD).

Subjects And Methods: The NIDA Network enrolled more than 760 at risk for NDD and typically developing infants to detect early signs of NDD.

Results: The NIDA Network was born in some Italian regions to engage clinical centers in a research project.

Early developmental trajectories of expressive vocabulary and gesture production in a longitudinal cohort of Italian infants at high-risk for Autism Spectrum Disorder.

Delays in language are a hallmark feature of Autism Spectrum Disorder (ASD). However, little is known about the predictive role of language developmental trajectories on ASD. The present study aimed at identifying early different language developmental profiles of infants at high familial risk for ASD (HR-ASD) and testing their predictive role on ASD symptoms at 2 years.

Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development.

Background: CHD8 haploinsufficiency causes autism and macrocephaly with high penetrance in the human population. Chd8 heterozygous mice exhibit relatively subtle brain overgrowth and little gene expression changes in the embryonic neocortex. The purpose of this study was to generate new, sub-haploinsufficient Chd8 mouse models to allow us to identify and study the functions of CHD8 during embryonic cortical development.

Early behavioral markers for neurodevelopmental disorders in the first 3 years of life: An overview of systematic reviews.

Being able to recognize red flags for neurodevelopmental disorders (NDD) is crucial to provide timely intervention programs. This work aims to support - within a scientific framework - the construction of an instrument capable to early detect all spectrum of NDD and explore all areas of development, detect failures in typical developmental pathways and point out atypical signs at all ages. This overview of reviews provides evidence for differences in children later diagnosed with NDD compared to typically developing peers such as delays in motor, language development and temperament in the first three years of age, repetitive/stereotyped behaviors, atypicalities/delays in play, object use, attention, visual, sensory processing and social engagement in the first and second year, and difficulties in feeding and sleeping in the first year.

Early Motor Development Predicts Clinical Outcomes of Siblings at High-Risk for Autism: Insight from an Innovative Motion-Tracking Technology.

Atypical motor patterns are potential early markers and predictors of later diagnosis of Autism Spectrum Disorder (ASD). This study aimed to investigate the early motor trajectories of infants at high-risk (HR) of ASD through MOVIDEA, a semi-automatic software developed to analyze 2D and 3D videos and provide objective kinematic features of their movements. MOVIDEA was developed within the Italian Network for early detection of Autism Spectrum Disorder (NIDA Network), which is currently coordinating the most extensive surveillance program for infants at risk for neurodevelopmental disorders (NDDs).

Ultrasonic vocalizations as a fundamental tool for early and adult behavioral phenotyping of Autism Spectrum Disorder rodent models.

In rodent models of Autism Spectrum Disorders (ASD), the study of ultrasonic vocalizations has provided the unique opportunity to evaluate social communication and interaction in ethologically-appropriate contexts, behavioral domains relevant to the first core symptom of ASD. In the present review, we selected and evaluated ultrasonic vocalizations' data collected in rodent models of ASD in different experimental settings, either in the neonatal phase or in adulthood. Both quantitative (calling rates) and qualitative (range and shape of the vocal repertoire) abnormalities have been evidenced.

Movidea: A Software Package for Automatic Video Analysis of Movements in Infants at Risk for Neurodevelopmental Disorders.

Early detecting the presence of neurodevelopmental disorders plays an important role in the effectiveness of the treatment. In this paper, we present a novel tool to extract motion features using single camera video recordings of infants. The Movidea software was developed to allow the operator to track the movement of end-effectors of infants in free moving conditions and extract movement features automatically.

Assessing the developmental trajectory of mouse models of neurodevelopmental disorders: Social and communication deficits in mice with Neurexin 1α deletion.

Neurexin 1α mutations are strongly associated with neurodevelopmental disorders such as autism spectrum disorders and schizophrenia in humans. Studies using the Neurexin 1α knock-out mouse have showed behavioral abnormalities of relevance to these disorders and baseline deficits in excitatory synaptic function have been described. However, little is known about the effect of Neurexin 1α deletion on behavior during development.

Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice.

Truncating CHD8 mutations are amongst the highest confidence risk factors for autism spectrum disorder (ASD) identified to date. Here, we report that Chd8 heterozygous mice display increased brain size, motor delay, hypertelorism, pronounced hypoactivity, and anomalous responses to social stimuli. Whereas gene expression in the neocortex is only mildly affected at midgestation, over 600 genes are differentially expressed in the early postnatal neocortex.

Ambra1 Shapes Hippocampal Inhibition/Excitation Balance: Role in Neurodevelopmental Disorders.

Imbalances between excitatory and inhibitory synaptic transmission cause brain network dysfunction and are central to the pathogenesis of neurodevelopmental disorders. Parvalbumin interneurons are highly implicated in this imbalance. Here, we probed the social behavior and hippocampal function of mice carrying a haploinsufficiency for Ambra1, a pro-autophagic gene crucial for brain development.

The Knockout of Synapsin II in Mice Impairs Social Behavior and Functional Connectivity Generating an ASD-like Phenotype.

Autism spectrum disorders (ASD) and epilepsy are neurodevelopmental conditions that appear with high rate of co-occurrence, suggesting the possibility of a common genetic basis. Mutations in Synapsin (SYN) genes, particularly SYN1 and SYN2, have been recently associated with ASD and epilepsy in humans. Accordingly, mice lacking Syn1 or Syn2, but not Syn3, experience epileptic seizures and display autistic-like traits that precede the onset of seizures.

The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.

The mechanisms underlying the neurodevelopmental deficits associated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination problems, and autistic features, have not been identified. CHARGE syndrome has been associated with mutations in the gene encoding the ATP-dependent chromatin remodeler CHD7. CHD7 is expressed in neural stem and progenitor cells, but its role in neurogenesis during brain development remains unknown.

Mapping pathological phenotypes in reelin mutant mice.

Autism Spectrum Disorders (ASD) are neurodevelopmental disorders with multifactorial origin characterized by social communication deficits and the presence of repetitive behaviors/interests. Several studies showed an association between the reelin gene mutation and increased risk of ASD and a reduced reelin expression in some brain regions of ASD subjects, suggesting a role for reelin deficiency in ASD etiology. Reelin is a large extracellular matrix glycoprotein playing important roles during development of the central nervous system.

Characterization of neonatal vocal and motor repertoire of reelin mutant mice.

Reelin is a large secreted extracellular matrix glycoprotein playing an important role in early neurodevelopment. Several genetic studies found an association between RELN gene and increased risk of autism suggesting that reelin deficiency may be a vulnerability factor in its etiology. Moreover, a reduced reelin expression has been observed in several brain regions of subjects with Autism Spectrum Disorders.