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Direct linkShemaila Saleem; Syed Hamid Habib – Review Journal of Autism and Developmental Disorders, 2024
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition. Genetic, environmental, and epigenetic variables are all likely to have a role in the occurrence of ASD. This systematic review was done to determine the implications of genetic factors and modifiers in ASD. Our results show that nearly all human chromosomes have one or more…
Descriptors: Autism Spectrum Disorders, Genetics, Genetic Disorders
Giovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela Maria Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi – Journal of Autism and Developmental Disorders, 2024
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Neurodevelopmental Disorders
María-Pilar López-Garrido; María-Carmen Carrascosa-Romero; Minerva Montero-Hernández; Jesús Ruiz-Almansa; Francisco Sánchez-Sánchez – Journal of Autism and Developmental Disorders, 2024
"ATRX" mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Symptoms (Individual Disorders), Intellectual Disability
Caryn Babaian; Sudhir Kumar – American Biology Teacher, 2024
The emerging field of genomic medicine offers an opportunity for biology and anatomy teachers to bring the topics of DNA, genetics, molecular processes, and evolution together into one experience. Through the genomic medicine paradigm, students see the unbroken connection between small biological topics such as mutations and their potential…
Descriptors: Science Education, Genetics, Diseases, Genetic Disorders
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
Kamara, Dana; De Boeck, Paul; Lecavalier, Luc; Neuhaus, Emily; Beauchaine, Theodore P. – Journal of Autism and Developmental Disorders, 2023
Studies of 16p11.2 copy number variants (CNVs) provide an avenue to identify mechanisms of impairment and develop targeted treatments for individuals with neurodevelopmental disorders. 16p11.2 deletion and duplication phenotypes are currently being ascertained; however, sleep disturbances are minimally described. In this study, we examine sleep…
Descriptors: Youth, Adults, Sleep, Problems
Amanda J. Haskins; Jeff Mentch; Caitlin Van Wicklin; Yeo Bi Choi; Caroline E. Robertson – Journal of Autism and Developmental Disorders, 2024
Sensory differences are nearly universal in autism, but their genetic origins are poorly understood. Here, we tested how individuals with an autism-linked genotype, 16p.11.2 deletion ("16p"), attend to visual information in immersive, real-world photospheres. We monitored participants' (N = 44) gaze while they actively explored 360°…
Descriptors: Autism Spectrum Disorders, Computer Simulation, Sensory Experience, Genetic Disorders
Uchenna Ezedinma; Evan Jones; Alexander Ring; Spencer Miller; Andrew Ladhams; Shauna Fjaagesund; Terri Downer; Gary Campbell; Florin Oprescu – Autism: The International Journal of Research and Practice, 2025
Anecdotal reports link a distinct, bilateral, parieto-temporally generated 4.5-Hz rhythm on an electroencephalogram to a methylenetetrahydrofolate reductase gene variant co-occurring in autism spectrum disorder, but the validation of its precision is needed. The electroencephalograms of children with autism spectrum disorder showing the distinct…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Children, Preadolescents
Hoh, Yin Kiong – American Biology Teacher, 2023
Gene therapy has fascinated clinicians, scientists, and patients since decades ago because of its potential to treat a disease at the genetic level. This can be achieved in many ways, including replacing a disease-causing gene with a healthy copy. Gene therapy must overcome complex tissue and cellular barriers to introduce genetic modifications…
Descriptors: Genetics, Genetic Disorders, Therapy, Diseases
Banu Ahtam; Hyuk Jin Yun; Rutvi Vyas; Rudolph Pienaar; Josephine H. Wilson; Caroline P. Goswami; Laura F. Berto; Simon K. Warfield; Mustafa Sahin; P. Ellen Grant; Jurriaan M. Peters; Kiho Im – Journal of Autism and Developmental Disorders, 2024
A significant number of individuals with tuberous sclerosis complex (TSC) exhibit language difficulties. Here, we examined the language-related brain morphometry in 59 participants (7 participants with TSC and comorbid autism spectrum disorder (ASD) (TSC + ASD), 13 with TSC but no ASD (TSC-ASD), 10 with ASD-only (ASD), and 29 typically developing…
Descriptors: Morphology (Languages), Autism Spectrum Disorders, Genetic Disorders, Brain Hemisphere Functions
Detong Guo; Wenchao Sheng; Yingzi Cai; Jianbo Shu; Chunquan Cai – Journal of Attention Disorders, 2024
Background: Lipid metabolism plays an essential role in nervous system development. Cholesterol deficiency leads to a variety of neurodevelopmental disorders, such as autism spectrum disorder and fragile X syndrome. There have been a lot of efforts to search for biological markers associated with and causal to ADHD, among which lipid is one…
Descriptors: Attention Deficit Hyperactivity Disorder, Genetic Disorders, Metabolism, Biochemistry
Eugene Merzon; Ariel Israel; Beth Krone; Shani Medvejer; Shira Cohen; Ilan Green; Avivit Golan-Cohen; Shlomo Vinker; Stephen V. Faraone; Jeffrey H. Newcorn; Shai Ashkenazi; Abraham Weizman; Iris Manor – Journal of Attention Disorders, 2024
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…
Descriptors: Attention Deficit Hyperactivity Disorder, Diseases, Physiology, Genetic Disorders
Anastasia Dimitropoulos; Ellen A. Doernberg; Rachel A. Gordon; Kerrigan Vargo; Evelyn Nichols; Sandra W. Russ – American Journal on Intellectual and Developmental Disabilities, 2024
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…
Descriptors: Genetic Disorders, Developmental Disabilities, Obesity, Intellectual Disability
Darren R. Hocking; Xiaoyun Sun; Kristina Haebich; Hayley Darke; Kathryn N. North; Giacomo Vivanti; Jonathan M. Payne – Journal of Autism and Developmental Disorders, 2024
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…
Descriptors: Preschool Children, Autism Spectrum Disorders, Genetic Disorders, Repetition
Rachel A. Gordon; Sandra W. Russ; Anastasia Dimitropoulos – Journal of Developmental and Physical Disabilities, 2024
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…
Descriptors: Children, Preadolescents, Genetic Disorders, Play
