We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age…

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…

There is a critical need for high-quality clinical outcome assessments to capture the important aspects of communication ability of individuals with Angelman syndrome (AS). To center the perspective of caregivers, our team developed the novel Observer-Reported Communication Ability (ORCA) measure using best practice guidelines, with the goal of…

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…

Williams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically…

Many theories support the idea that children's literacy learning develops as they learn to make meaning through interactions with others. These assertions are premised on the understanding that childhood literacy serves various social purposes and that these literacies are learned through participating in social contexts. In this position paper,…

The aim of this study is to define epigenetic literacy and describe how it can be included in school biology. Epigenetics is a new field of research in biology with abundant societal consequences and conceptual implications on how genetics is understood. Epigenetics explains how genes are regulated, thereby clarifying cell differentiation, and…

Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in…

Background and aims: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language impairment, and challenges with social interaction, communication, and repetitive behaviors. Although genetics are a primary cause of ASD, the exact genes and molecular mechanisms involved in its pathogenesis are not completely clear. The…

The rapid growth of online education has created opportunities to integrate multimedia learning tools into complex scientific disciplines like food biotechnology. This study aimed to develop and evaluate supplementary online course modules on gene expression analysis, protein engineering tools, and fermentation genomics for undergraduate food…

Knowledge about genetics is essential to build a society capable of participating in socioscientific and ethical debates. However, this subject remains difficult for students, making it necessary to develop new educational strategies, such as gamification. Thus, two main objectives are established in this work: (a) to design and evaluate…

The purpose of this paper was to examine the physical, emotional, social and school functioning domains of quality of life of individuals with Fragile X Syndrome, in relation to mental health and sleep patterns to gain a better understanding of how these aspects are affected by the disorder. This study included 119 individuals with Fragile X…

The Genomics Education Partnership (GEP; thegep.org) is a collaboration of more than 260 faculty from over 200 colleges and universities across the continental United States and Puerto Rico, all of whom are engaged in bringing Course-based Undergraduate Research Experiences (CUREs) centered in genomics and bioinformatics to their students. The…

Autism is heterogeneous at many levels, including clinical symptoms and etiology. A key strategy in studying heterogeneous conditions is having large enough sample sizes to stratify into smaller groups that are more homogeneous. SPARK and Simons Searchlight are large and growing research cohorts of individuals with autism in the United States and…

In recent years, the discipline of statistics has begun reckoning with its difficult history. Institutions are reconsidering names that have honored key historical figures in statistics who have deep ties to eugenics movements and racial and class prejudice. These names, however, continue to appear in our classrooms, where we teach the methods…