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Direct linkTess Levy; Cristan Farmer; Siddharth Srivastava; Kristina Johnson; Jadyn Trayvick; Camille Brune; Alexandra Massa; Hailey Silver; Paige M. Siper; Jessica Zweifach; Danielle Halpern; Jennifer H. Foss-Feig; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Craig M. Powell; Mustafa Sahin; Latha Valluripalli Soorya; Audrey Thurm; Joseph D. Buxbaum; Alexander Kolevzon – American Journal on Intellectual and Developmental Disabilities, 2025
The clinical spectrum of Phelan-McDermid syndrome (PMS) is varied, with wide-ranging degrees of intellectual disability, developmental delays, behavioral abnormalities, and medical features. Different types of genetic variation lead to PMS, and differing genotypes (e.g., size of deletion or type of variant) account for some of this variability,…
Descriptors: Genetics, Genetic Disorders, Intellectual Disability, Developmental Delays
Fouad A. Alshaban; Mohammad Aldosari; Iman Ghazal; Hawraa Al-Shammari; Saba ElHag; I. Richard Thompson; Jennifer Bruder; Hibah Shaath; Fatema Al-Faraj; Mohamed Tolefat; Assal Nasir; Eric Fombonne – Journal of Autism and Developmental Disorders, 2025
Purpose: Genetic and environmental risk factors associated with Autism Spectrum Disorders (ASD) continue to be a focus of research worldwide. Consanguinity, the cultural practice of marrying within a family, is common in cultures and societies of the Middle East, North Africa and parts of Asia. Consanguinity has been investigated as a risk factor…
Descriptors: Risk, Symptoms (Individual Disorders), Autism Spectrum Disorders, Environmental Influences
Irene Campos-Sánchez; Eva María Navarrete-Muñoz; Dries S. Martens; Isolina Riaño-Galán; Aitana Lertxundi; Sabrina Llop; Mónica Guxens; Cristina Rodríguez-Dehli; Nerea Lertxundi; Raquel Soler-Blasco; Martine Vrijheid; Tim S. Nawrot; John Wright; Tiffany C. Yang; Rosie McEachan; Kristine Bjerve Gützkow; Vaia Lida Chatzi; Marina Vafeiadi; Mariza Kampouri; Regina Grazuleviciene; Sandra Andrusaityte; Johanna Lepeule; Desirée Valera-Gran – Journal of Attention Disorders, 2025
Objective: To explore the association between telomere length (TL) and attention deficit hyperactivity disorder (ADHD) symptoms in children at 6-12 years. Method: Data from 1,759 children belonging to the HELIX project cohorts and the Asturias, Gipuzkoa and Valencia cohorts of INMA project were included. TL was determined by blood sample using a…
Descriptors: Foreign Countries, Genetic Disorders, Attention Deficit Hyperactivity Disorder, Mothers
Hannah R. Benavidez; Margaret Johansson; Elizabeth Jones; Hannah Rea; Evangeline C. Kurtz-Nelson; Conor Miles; Alana Whiting; Curtis Eayrs; Rachel Earl; Raphael A. Bernier; Evan E. Eichler; Emily Neuhaus – Journal of Autism and Developmental Disorders, 2025
Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate…
Descriptors: Predictor Variables, Intervention, Youth, Autism Spectrum Disorders
María 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
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
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
Elisabeth F. Callen; Tarin L. Clay; Wendy Cogan; William R. Black; Jordan T. Jones; Natabhona Mabachi – Health Education & Behavior, 2025
While 10% of the U.S. population are afflicted with a rare disease, patients with a rare disease can have a difficult time finding a provider or useful information. Patients with rare diseases are often frustrated by lack of knowledge from their provider, lack of satisfaction with their provider, and lack of available time with their provider.…
Descriptors: Genetic Disorders, Social Support Groups, Social Networks, Interaction
Tyler M. Moore; Katherine C. Lopez; J. Cobb Scott; Jack C. Lennon; Akira Di Sandro; Eirini Zoupou; Alesandra Gorgone; Monica E. Calkins; Daniel H. Wolf; Joseph W. Kable; Kosha Ruparel; Raquel E. Gur; Ruben C. Gur – Journal of Psychoeducational Assessment, 2025
The Penn Computerized Neurocognitive Battery (CNB) is a collection of tests validated using neuroimaging, genetics, and other criteria. An updated version of the CNB was constructed in which all tests were converted to either computerized adaptive (CAT) or abbreviated forms. In a mixed community/clinical sample (N = 307; mean age = 25.9 years;…
Descriptors: Computer Assisted Testing, Cognitive Ability, Genetics, Adaptive Testing
Alaina M. Di Dio; Elizabeth A. Shewark; Daniel Thaler; S. Alexandra Burt – JCPP Advances, 2025
Background: Lower parental nurturance is consistently associated with higher levels of youth antisocial behavior (ASB), but the etiology of this association remains unclear. To fill this gap, we employed a twin differences approach to illuminate the environmental and genetic origins of the association between parental nurturance and children's…
Descriptors: Parenting Styles, Parent Child Relationship, Antisocial Behavior, Twins
Download full textKhusnun Nisa Muftifah; Wolly Candramila; Anisyah Yuniarti – Pedagogical Research, 2025
Genetics is a fundamental topic in Biology, yet its abstract nature presents challenges in the learning process. Effective teaching of genetics concepts requires appropriate instructional approaches to facilitate student understanding. The success of learning outcomes depends on various components, including teachers, students, learning…
Descriptors: Foreign Countries, Teaching Methods, Science Instruction, Genetics
Caitlin N. Harrington; Ana Morales; Jonathan A. Bernstein; Laurel Calderwood – Journal of Autism and Developmental Disorders, 2025
A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to…
Descriptors: Patients, Autism Spectrum Disorders, Genetic Disorders, Screening Tests
Cristan Farmer; Ivy Giserman-Kiss; Ellora Mohanty; Latha Valluripalli Soorya; Mustafa Sahin; Alexander Kolevzon; Joseph D. Buxbaum; Elizabeth Berry-Kravis; Craig M. Powell; Jonathan A. Bernstein; Audrey Thurm – American Journal on Intellectual and Developmental Disabilities, 2025
Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from the Developmental…
Descriptors: Genetic Disorders, Severe Disabilities, Neurodevelopmental Disorders, Skill Development
