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Direct linkReichow, Brian; George-Puskar, Annie; Lutz, Tara; Smith, Isaac C.; Volkmar, Fred R. – Journal of Autism and Developmental Disorders, 2015
Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2…
Descriptors: Genetic Disorders, Neurological Impairments, Child Development, Gender Differences
Hesse-Biber, Sharlene – Journal of Mixed Methods Research, 2018
This quantitatively driven sequential mixed methods study articulates the role of theory in mixed methods research and assesses the contribution of a mixed methods design to examining gender differences in men and women's genetic testing decisions and the psychosocial factors impacting health-seeking behaviors post-testing. A quantitative online…
Descriptors: Screening Tests, Cancer, Mixed Methods Research, Gender Differences
DeAngelis, Erik J.; McIntosh, Scott; Ahmed, Catherine D.; Block, Robert C. – Health Education Journal, 2018
Objective: To determine individual and group patient ideas and priorities regarding ways to enhance their own health care while providing a supportive environment including a clinical lipidologist and other medical experts. The intent was to transform these ideas and priorities into hypotheses for future research while enhancing current health…
Descriptors: Patients, Health Promotion, Qualitative Research, Physician Patient Relationship
Klein-Tasman, Bonita P.; van der Fluit, Faye; Mervis, Carolyn B. – Journal of Autism and Developmental Disorders, 2018
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Children
Lough, Emma; Flynn, Emma; Riby, Deborah M. – Journal of Autism and Developmental Disorders, 2016
Personal space refers to a protective barrier that we strive to maintain around our body. We examined personal space regulation in young people with Williams syndrome (WS) and their typically developing, chronological age-matched peers using a parent report questionnaire and a stop-distance paradigm. Individuals with WS were reported by their…
Descriptors: Intellectual Disability, Familiarity, Interpersonal Relationship, Interpersonal Competence
Urbanowicz, Anna; Downs, Jenny; Girdler, Sonya; Ciccone, Natalie; Leonard, Helen – Journal of Speech, Language, and Hearing Research, 2016
Purpose: This study investigated the communicative use of eye gaze and gestures in females with Rett syndrome. Method: Data on 151 females with Rett syndrome participating in the Australian Rett Syndrome Database was used in this study. Items from the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist…
Descriptors: Eye Movements, Nonverbal Communication, Females, Developmental Disabilities
Nordstrøm, Marianne; Paus, Benedicte; Retterstøl, Kjetil; Kolset, Svein O. – Journal of Intellectual & Developmental Disability, 2016
Background: Risk for atherosclerotic cardiovascular disease (CVD) and association with abdominal obesity have not been extensively studied in genetic syndromes associated with intellectual disability. Methods: A cross-sectional study was conducted in individuals aged 20-43 years with Williams syndrome (WS; n = 21), Prader-Willi syndrome (PWS; n =…
Descriptors: At Risk Persons, Diseases, Obesity, Heart Disorders
D'Souza, Dean; D'Souza, Hana; Karmiloff-Smith, Annette – Journal of Child Language, 2017
In order to understand how language abilities emerge in typically and atypically developing infants and toddlers, it is important to embrace complexity in development. In this paper, we describe evidence that early language development is an experience-dependent process, shaped by diverse, interconnected, interdependent developmental mechanisms,…
Descriptors: Psychomotor Skills, Infants, Toddlers, Language Skills
Hamsho, N.; Antshel, K. M.; Eckert, T. L.; Kates, W. R. – Journal of Intellectual Disability Research, 2017
Background: 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that…
Descriptors: Intellectual Disability, Genetic Disorders, Predictor Variables, Late Adolescents
Merker, Sören; Reif, Andreas; Ziegler, Georg C.; Weber, Heike; Mayer, Ute; Ehlis, Ann-Christine; Conzelmann, Annette; Johansson, Stefan; Müller-Reible, Clemens; Nanda, Indrajit; Haaf, Thomas; Ullmann, Reinhard; Romanos, Marcel; Fallgatter, Andreas J.; Pauli, Paul; Strekalova, Tatyana; Jansch, Charline; Vasquez, Alejandro Arias; Haavik, Jan; Ribasés, Marta; Ramos-Quiroga, Josep Antoni; Buitelaar, Jan K.; Franke, Barbara; Lesch, Klaus-Peter – Journal of Child Psychology and Psychiatry, 2017
Background: Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of…
Descriptors: Attention Deficit Hyperactivity Disorder, Neurological Impairments, Genetic Disorders, Physiology
Puig, Blanca; Ageitos, Noa; Jiménez-Aleixandre, María Pilar – Science & Education, 2017
There is emerging interest on the interactions between modelling and argumentation in specific contexts, such as genetics learning. It has been suggested that modelling might help students understand and argue on genetics. We propose modelling gene expression as a way to learn molecular genetics and diseases with a genetic component. The study is…
Descriptors: Science Education, Genetics, Teaching Methods, Diseases
Holland, Alice Ann; Stavinoha, Peter L.; Swearer, Susan M.; Solesbee, Cody; Patel, Sarita; Klesse, Laura J. – School Psychology, 2019
Children and adolescents with the genetic, tumor predisposition syndromeneurofibromatosis type I (NF1) have varying degrees of physical stigmata characteristic of the disease and experience high rates of social difficulties. The present study was the first to formally examine the rate (i.e., percentage of participants) and frequency of bullying…
Descriptors: Victims, Bullying, Genetic Disorders, Student Attitudes
Aivelo, Tuomas; Uitto, Anna – International Journal of Science Education, 2019
Science education strives to increase interest in science and facilitate active citizenship. Thus, the aspects of personal and societal relevance are increasingly emphasised in science curricula. Still, little is known about how teachers choose content for their teaching, although their choices translate curricula to teaching practice. We explored…
Descriptors: Secondary School Science, Genetics, Science Teachers, Controversial Issues (Course Content)
Download full textMourad Ali Eissa Saad; Beata Borowska-Beszta – Online Submission, 2019
The phenomena of disabilities in the Arab world can be viewed from various perspectives, considering historical times, epistemological programmes and theoretical models. This article is a theoretical review and comparative data analysis of the problems regarding the evolution of attitudes and current concept of disability and theoretical…
Descriptors: Disabilities, Arabs, Comparative Analysis, Caring
Mourad Ali Eissa Saad; Beata Borowska-Beszta – International Journal of Psycho-Educational Sciences, 2019
The phenomena of disabilities in the Arab world can be viewed from various perspectives, considering historical times, epistemological programmes and theoretical models. This article is a theoretical review and comparative data analysis of the problems regarding the evolution of attitudes and current concept of disability and theoretical…
Descriptors: Disabilities, Arabs, Comparative Analysis, Caring
