Background: People with intellectual disability are vulnerable to developing and experiencing pain, indeed more pain, due to comorbidities and secondary conditions. Their pain may also be underestimated or poorly managed, due to difficulties with verbal and non-verbal communication. Improved understanding could have positive implications for pain…

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a wide range of behavioral and cognitive impairments. While genetic and environmental factors are known to contribute to its etiology, metabolic perturbations associated with ASD, which can potentially connect genetic and environmental factors, remain poorly understood.…

Transposable elements (TEs) have been implicated in autism spectrum disorder (ASD). However, our understanding of their roles is far from complete. Herein, we explored de novo TE insertions (dnTEIs) and de novo variants (DNVs) across the genomes of dizygotic twins with ASD and their parents. The neuronal regulatory elements had a tendency to…

Objective: In this study, to investigate the place of T cell-mediated immunity in the etiology of ADHD, for which we do not have enough information; we aimed to investigate the activity of DPP IV and ADA, which are T cell-related enzymes, and the relationship of these enzymes with ADHD symptoms in children with ADHD. Methods: Twenty-seven children…

Early intervention can reduce disability in children diagnosed with autism spectrum disorder. Screening for autism spectrum disorder in young children identifies those at increased likelihood of diagnosis who may need further support. This study assessed in "utero" exposure to maternal obesity and diabetes and offspring performance on…

Purpose: This exploratory study aims to investigate variations in voice production in the presence of background noise (Lombard effect) in individuals with nonphonotraumatic vocal hyperfunction (NPVH) and individuals with typical voices using acoustic, aerodynamic, and vocal fold vibratory measures of phonatory function. Method: Nineteen…

Background: Rates of death and avoidable deaths are reportedly higher among people with intellectual and developmental disabilities. This study contributes to our understanding of how mortality and intellectual and development disabilities are associated. Method: General population and intellectual and developmental disabilities adult cohorts were…

The applied field of "Global Early Childhood Development", developed in WEIRD (Western, Educated, Industrialised Rich and Democratic) settings, asserts universal frameworks and understandings of early childhood development pathways. This field advocates for the roll out of parenting interventions aimed at improving child development…

Attention deficit hyperactivity disorder (ADHD) and dyslexia are among the most common neurodevelopmental disorders of childhood. The cognitive mechanisms underlying these disorders have not yet been fully clarified. Comprehensive assessment of cognitive and reading performance may provide valuable information to reveal the cognitive mechanisms…

Background: The data on specific comorbidities in children with dyskinetic cerebral palsy (DCP) is limited. We evaluated the pattern of comorbidities and health related quality of life (HRQOL) in these children and compared them between etiological and motor impairment subgroups. Methodology: This cross-sectional study was conducted over 18 months…

Introduction: A number of recent studies have brought attention to the involvement of dietary salt and blood sodium levels in the etiopathogenesis of autism. In our study, by comparing the blood sodium levels of children with autism spectrum disease (ASD) and healthy children, we aimed to shed light on the etiopathogenesis of ASD. Method: We…

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75…

This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a…

Leaky gut hypothesis is one of the well-known theory which tries to explain etiology of Autism Spectrum Disorder (ASD). Unfortunately there is still a gap of evidence to investigate the corner points of the hypothesis. The aim of this study was to investigate the determinants of leaky gut in children with ASD, their siblings and healthy controls.…

Background: Previous studies have reported a moderate influence of environmental factors in the aetiology of stuttering. However, psychological and socio-environmental factors in stuttering are often studied independently without exploring their relationships. This makes it difficult to know which factors are most important, especially among…