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…

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…

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…

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.…

Objectives: Characterise the circumstances associated with death during admission of adults with Down syndrome (DS) and to identify predictors of mortality. Patients and Methods: Observational study based on data on all emergent admissions of adults with DS to hospitals of the Spanish National Health System between 1997 and 2014. We analysed…

Autism spectrum disorders (ASD) are strikingly more prevalent in males, but the molecular mechanisms responsible for ASD sex-differential risk are poorly understood. Abnormally shorter telomeres have been associated with autism. Examination of relative telomere lengths (RTL) among non-syndromic male (N = 14) and female (N = 10) children with…

Background: Recent evidence suggests that speech substantially changes in ageing. As a complex neurophysiological process, it can accurately reflect changes in the motor and cognitive systems underpinning human speech. Since healthy ageing is not always easily discriminable from early stages of dementia based on cognitive and behavioural…

Whether altered white matter microstructural property of autistic people also exists in non-autistic siblings is uncertain. The microstructures of a neural tract may not be consistent throughout the whole track. We assessed 38 cognitive-able autistic males (aged 15.8 ± 4.4 years), 39 non-autistic siblings (16.5 ± 5.7 years), and 78 age- and…

School teachers devote time to facilitate learning as well as behavior management to produce an environment of positive learning. For the typically-developing youth, most behavioral management interventions are successful to deter problematic behaviors and conduct compliance. However, for youth who have conduct disorder, the usual behavioral…

Purpose: Early language and communication interventions for children with language impairments have been shown to be effective in assessments administered immediately after treatment. The purpose of the current systematic review and meta-analysis was to assess the overall durability of those effects over time and whether durability was related to…

Background: Life expectancy is on rise and the intriguing question is: When does cognitive decline occur among adults with intellectual disability, compared to adults with typical development? This cross-sectional study examined cognitive performance of crystallised/fluid intelligence, working and long-term memory of adults with intellectual…

This study assessed the level of awareness of Specific Learning Disabilities (SLDs) among schoolteachers in Ethiopia. A descriptive quantitative research design was adopted with a survey method that used a questionnaire. Data were collected from a total of N = 305 schoolteachers (age: M = 24.8, SD = 7.4, range 18-55 years; Male = 150; Female =…

Teachers play a crucial role in the diagnosis and management of children with attention deficit hyperactivity disorder (ADHD). In the United Arab Emirates (UAE), teachers' understanding of this condition has not been evaluated so far. Our study included teachers (n = 394) from 25 randomly selected primary schools in Dubai with the purpose of…