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Direct linkMaría Galán-Olleros; Elena González-Alguacil; Víctor Soto-Insuga; María Teresa Vara-Arias; Nelmar Valentina Ortiz-Cabrera; J. Ignacio Serrano; Rosa M. Egea-Gámez; Juan José García-Peñas; Ignacio Martínez-Caballero; Salvadora Aleza Esteras; Carlota Aparicio Fernández de Gatta; Elvira Cañedo Villarroya; Daniel Clemente Garulo; Rocío Falcón Roca; Silvia Gutiérrez Priego; Blanca López Monedero; Paula Moreno Gutiérrez; Miriam Martín Mangas; Francisca Romero Andujar; Amalia Tamariz Martel – Journal of Autism and Developmental Disorders, 2025
Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in "MECP2" gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and "MECP2" variant subtypes. Methods: Conducted as a…
Descriptors: Genetic Disorders, Intellectual Disability, Physical Disabilities, Patients
Carolina Baeza-Velasco; Judith Vergne; Marianna Poli; Larissa Kalisch; Raffaella Calati – Autism: The International Journal of Research and Practice, 2025
Increasing research suggests a link between autism spectrum disorders and joint hypermobility, hypermobility spectrum disorders, and Ehlers-Danlos syndromes. However, no study systematically examined the available literature about the relationship between these conditions. A systematic literature search was conducted to identify studies (a)…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Human Body, Psychomotor Skills
Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun – Journal of Autism and Developmental Disorders, 2022
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…
Descriptors: Autism Spectrum Disorders, Children, Genetics, Intellectual Disability
Jinhyeon Choi; Sang-Hak Jeon; Hyeon-Pyo Shim – Biochemistry and Molecular Biology Education, 2024
The aim of this study was to develop molecular genetics inquiry programs using the "eyes absent" gene of "Drosophila melanogaster." The program was composed of various molecular genetics experiments, including mutation observation, cross-breeding, searching for genetic information in web databases, gDNA extraction, and PCR.…
Descriptors: Genetics, Molecular Structure, Animals, Genetic Disorders
Kristy J. Wilson; Allison K. Chatterjee – Biochemistry and Molecular Biology Education, 2024
Students often see college courses as the presentation of disconnected facts, especially in the life sciences. Student-created Structure Mechanism/Relationship Function (SMRF) models were analyzed to understand students' abilities to make connections between genotype, phenotype, and evolution. Students were divided into two sections; one section…
Descriptors: College Students, Genetics, Models, Classification
Edison Bicudo – Applied Linguistics, 2024
Interpreting how people accord meaning to life situations is an old challenge in sociology. Emphasis has been given to values shared within social groups; other sociologists have stressed the discursive or communicative dimensions of society. This paper seeks an alternative interpretation by combining sociological inquiry and insights from…
Descriptors: Schemata (Cognition), Genetics, Therapy, Sociology
Gary N. Marks; Michael O'Connell – Review of Education, 2024
The first section of this paper sets the record straight regarding many of Debouwere's (2024, "Review of Education," 12, e3445) specific criticisms. The second section discusses the magnitude of the SES-achievement relationship, specifically Debouwere's (2024) contention that the correlation is strong around 0.5 or 0.6 compared to…
Descriptors: Academic Achievement, Cognitive Ability, Genetics, Socioeconomic Status
Pasquale Cardellicchio; Sara Borgomaneri – npj Science of Learning, 2025
The consolidation process stabilizes a new initially labile memory. This consolidation could operate on a shorter timescale during wakefulness after initial motor learning. Within micro-offline learning states, sequences of simple individual actions learned through interleaved practice are condensed into a unified skill through a time-dependent…
Descriptors: Brain, Brain Hemisphere Functions, Genetics, Cognitive Processes
Gabriela Perez-Garcia; Andrea Gomez Barillas; Renata Mendizábal-Cabrera; Danilo Alvarez; Brooke M. Ramay; Nikolina Walas; Jay P. Graham – Field Methods, 2025
In many countries, soiled toilet paper is placed in trash bins rather than flushed down the toilet. We investigated the use of soiled toilet paper in Guatemalan markets to surveil for pathogenic sequence types (STs) of "E. coli" and third generation cephalosporin-resistant "E. coli" (3GCR-EC). We collected used toilet paper…
Descriptors: Sanitation, Diseases, Pathology, Sanitary Facilities
Shotwell, Mark – American Biology Teacher, 2021
Pedigree analysis has long been an essential tool in human genetics as well as a staple of genetics education. Students of genetics might be surprised to learn that human pedigrees were first popularized in the United States by proponents of eugenics, the pseudoscientific social movement aimed at improving the genetic quality of the human race.…
Descriptors: Genetics, Genetic Disorders, Social Problems, Science Activities
Chow, Julie C.; Hormozdiari, Fereydoun – Journal of Autism and Developmental Disorders, 2023
The early detection of neurodevelopmental disorders (NDDs) can significantly improve patient outcomes. The differential burden of non-synonymous de novo mutation among NDD cases and controls indicates that de novo coding variation can be used to identify a subset of samples that will likely display an NDD phenotype. Thus, we have developed an…
Descriptors: Prediction, Neurodevelopmental Disorders, Identification, Genetics
Hickman, Allison R.; Selee, Bradley; Pauly, Rini; Husain, Benafsh; Hang, Yuqing; Feltus, Frank Alex – Journal of Autism and Developmental Disorders, 2023
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with…
Descriptors: Genetics, Autism Spectrum Disorders, Brain, Biochemistry
Rozanna Lilley; Hannah Rapaport; Rebecca Poulsen; Michael Yudell; Elizabeth Pellicano – Autism: The International Journal of Research and Practice, 2024
There has been intense debate within the autistic and autism communities about the use of autism biobanks -- repositories containing biological and phenotypic materials -- and of genomic autism research more broadly. Here, we sought to understand the views and experiences of those contributing to one specific biobank, the Australian Autism…
Descriptors: Autism Spectrum Disorders, Research, Genetics, Databases
Kwangmi Ahn; Jenny Jean; Luke J. Norman; Philip Shaw – Journal of Attention Disorders, 2025
Objectives: Although extensive research has documented associations between Attention-Deficit/Hyperactivity Disorder (ADHD) and differences in resting-state electroencephalography (EEG) oscillatory activity, the causal nature of these relationships remains uncertain. This study aimed to determine whether there is a causal relationship between…
Descriptors: Attention Deficit Hyperactivity Disorder, Brain, Correlation, Genetics
Okay, Kaan; Varis, Pelin Ünal; Miral, Süha; Pavlopoulou, Athanasia; Oktay, Yavuz; Karakülah, Gökhan – Journal of Autism and Developmental Disorders, 2023
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…
Descriptors: Genetics, Twins, Autism Spectrum Disorders, Etiology
