Autism spectrum disorders (ASDs) are described as generalized developmental disorders, with an average age of onset of 36 months. Genetic and environmental factors may contribute to this multifactorial disorder. The present study aimed to investigate the association of three "GRIN2B" polymorphisms, including rs1019385, rs1024893, and…

Objective: There is growing evidence of involvement of inflammatory mechanisms in ADHD. Previous studies found significantly higher rates of ADHD among children with FMF. The present study examined the rate of exposure to FMF in children with a later (within a 5-year period) diagnosis of ADHD compared to non-ADHD children. Methods: A…

Field-Based Practicum (FBP) about Pterydophyta diversity material in Low plant botany learning is very important, even though the facts in the field show that FBP is still minimally carried out. This research aims to utilize the potential diversity of Pterydophyta in the Tuban-Lamongan Pantura area as a support for FBP about low plant botany…

The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72-84 months). Exome sequencing was conducted and putative risk variants were identified.…

The current study examines the efficacy of an 8-week pretend play intervention targeting social-cognitive abilities in children with Prader-Willi syndrome (PWS), ages 6-9. PWS is a rare disorder associated with various social, emotional, and cognitive challenges linked to pretend play impairments, and for which interventions are sparse. Nineteen…

Atypical habituation to repetitive information has been commonly reported in Autism Spectrum Disorder (ASD) but it is not yet clear whether similar abnormalities are present in Neurofibromatosis Type 1 (NF1). We employed a cross-syndrome design using a novel eye tracking paradigm to measure habituation in preschoolers with NF1, children with…

Background: Children with Prader-Willi Syndrome (PWS) display impaired pretend play abilities, reflective of broader social-cognitive challenges. Pretend play interventions for children with PWS demonstrate preliminary efficacy for improving cognitive and affective processes in play. It is unknown which specific intervention strategies, such as…

Autism spectrum disorder (ASD) is manifested by abnormal cell numbers and patches of gene expression disruption in higher-order brain regions. Here, we investigated whether layer-specific changes in glia/neuron ratios (GNR) characterize patches in the dorsolateral prefrontal cortex (DL-PFC) of children with ASD. We analyzed high-resolution digital…

Do people think about genetic inheritance as a deterministic or probabilistic process? Do adults display systematic biases when reasoning about genetic inheritance? Knowing how adults think about genetic inheritance is valuable, both for understanding the developmental endpoint of these concepts and for identifying biases that persist even after…

The objective of this study was to assess the correlation of the Per3 gene VNTR polymorphism to insomnia patients in Bermuda. Buccal swabs were taken, and DNA was extracted, after which the genotypes of volunteers were characterised by using polymerase chain reaction. There were 25 total volunteers (21 females, 4 males, aged 20-79) that…

Purpose: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder. Methods: Using the sensory profile questionnaire completed by the caregivers, we analyzed the WS (n = 60, 3.4-19.8 years) and autistic (n = 39, 4.2-14.0 years) groups. Results: The…

Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver…

Recently, our course team transformed a large-enrollment introductory genetics course from being predominantly lecture based to active learning based. During class sessions, students engaged in problem solving, which occurs when a student attempts to solve a problem without knowing the path to complete it. We designed class activities…

Children with CHARGE syndrome display significant delays in their motor development compared with peers without disabilities. Although individual constraints related to CHARGE syndrome characteristics are often a primary concern for motor development, environmental constraints have been shown to play a contributing role. Specifically, several…

We compared the epilepsy phenotypes in children with genetically defined versus undefined autism spectrum disorder (ASD). A single-center retrospective study was conducted to investigate diagnostic yields of different genetic testing for children with ASD. Patients with at least one testing modality were included and classified as having…