Sleep disorders (SD) are common in autism spectrum disorder (ASD), yet relatively little is known about the potential genetic mechanisms involved in SD and ASD comorbidity. The current study begins to fill this gap with a gene enrichment study that (1) identifies risk genes that contribute to both SD and ASD which implicate circadian entrainment,…

Gene transcription is a crucial step in the sequence of molecular, synaptic, cellular, and systems mechanisms underlying learning and memory. Here, we review the experimental evidence demonstrating that alterations in the levels and functionality of the methylated DNA-binding transcriptional regulator MeCP2 are implicated in the learning and…

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…

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…

Here, we propose a laboratory exercise to quickly determine single nucleotide polymorphisms (SNPs) in human "alcohol dehydrogenase 1B (ADH1B)" and "aldehyde dehydrogenase 2 (ALDH2)" genes involved in alcohol metabolism. In this exercise, two different genotyping methods based on polymerase chain reaction (PCR), namely…

Genetic factors, particularly, de novo variants (DNV), and an environment factor, exposure to pregnancy-induced hypertension (PIH), were reported to be associated with risk of autism spectrum disorder (ASD); however, how they jointly affect the severity of ASD symptom is unclear. We assessed the severity of core ASD symptoms affected by functional…

Across development, young children reason about why social inequities exist. However, when left to their own devices, young children might engage in "internal thinking," reasoning that the inequity is simply a justified disparity explained by features internal to social groups (e.g., genetics, intellect, abilities, values). Internal…

Purpose: Smith-Magenis syndrome (SMS), a rare, genetically linked complex developmental disorder caused by a deletion or mutation within chromosome 17p11.2, is associated with delays in speech-language development, otopathology, and hearing loss, yet previous studies lack comprehensive descriptions of hearing and communication profiles. Here,…

Genetic variation is historically challenging for undergraduate students to master, potentially due to its grounding in both evolution and genetics. Traditionally, student expertise in genetic variation has been evaluated using Key Concepts. However, Cognitive Construals may add to a more nuanced picture of students' developing expertise. Here, we…

This study aimed to develop and validate machine learning models to predict intensities in children and adolescents with cystic fibrosis (CF) across different accelerometry brands and placements. Thirty-five children and adolescents with CF (11.6 ± 2.8 yrs; 15 girls) and 28 healthy youth (12.2 ± 2.7 yrs; 16 girls) performed six activities whilst…

This study aimed to explore stakeholders' perspectives on the ethical considerations for returning individual pharmacogenomics research results to people living with HIV. A qualitative approach to investigation involved five focus group discussions with 30 Community representatives, 12 key informant interviews with researchers, and 12 in-depth…

Here we build from the central strength of the existing definition of dyslexia--its emphasis on neurobiological origins--and proffer a set of seven core principles for a new, more comprehensive conceptualization of dyslexia. These principles derive from two major research directions: (1) the still evolving history of attempts to explain dyslexia,…

Purpose: The Social Responsiveness Scale (SRS) is frequently used in research settings to measure characteristics associated with autism spectrum disorders (ASD). A short version has been developed but not yet tested for certain properties of the full SRS, such as familiality. The purpose of this study was to determine if prior familiality…

Science should provide students an accurate and contemporary education on genetic influence, particularly how it impacts trait variability and developmental norms. Stories involving familial, racial, and sexual differences routinely appear in the popular media and sales of over-the-counter genetic tests are mounting. Unfortunately, research…

Purpose: The aim of this study is to establish which specific cognitive abilities are phenotypically related to reading skill in adolescence and determine whether this phenotypic correlation is explained by polygenetic overlap. Method: In an Australian population sample of twins and non-twin siblings of European ancestry (734 [less than or equal…