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Direct linkBang, Peter; Strömberg, Maria; Meera, Shoba S.; Igelström, Kajsa – Journal of Autism and Developmental Disorders, 2022
The broad autism phenotype (BAP) is a set of characteristics often observed in typically developing people with a genetic load for autism, such as parents of autistic children. The Broad Autism Phenotypic Questionnaire (BAPQ) is a 36-item questionnaire developed to identify the BAP in first-degree relatives of autistic people. We translated the…
Descriptors: Autism Spectrum Disorders, Disability Identification, Symptoms (Individual Disorders), Psychometrics
Hellquist, Anna; Tammimies, Kristiina – Autism: The International Journal of Research and Practice, 2022
Clinical genetic testing is recommended for individuals diagnosed with autism spectrum disorder. There are only a few reports of how these recommendations are followed and especially missing for European countries. We aimed to analyze the rate of access, utilization, and awareness of clinical genetic testing among autistic individuals in Sweden…
Descriptors: Foreign Countries, Autism Spectrum Disorders, Genetic Disorders, Screening Tests
Neufeld, Janina; Hederos Eriksson, Lisa; Hammarsten, Richard; Lundin Remnélius, Karl; Tillmann, Julian; Isaksson, Johan; Bölte, Sven – Autism: The International Journal of Research and Practice, 2021
Atypical sensory processing is prevalent across neurodevelopmental conditions and a key diagnostic criterion of autism spectrum disorder. It may have cascading effects on the development of adaptive functions. However, its unique contribution to adaptive functioning and the genetic/environmental influences on this link are unclear. In a clinically…
Descriptors: Autism, Pervasive Developmental Disorders, Perceptual Impairments, Twins
Tyrer, Freya; Kiani, Reza; Rutherford, Mark J. – Journal of Intellectual & Developmental Disability, 2021
Background: There is a need to systematically compare and contrast mortality predictors and disparities in people with intellectual disabilities (ID) for global prevention strategy development. Method: Bibliographic databases and grey literature were searched using systematic review methodology and the machine learning tool "Abstrackr."…
Descriptors: Intellectual Disability, Death, Predictor Variables, Prevention
Nag, Heidi Elisabeth; Naerland, Terje – Journal of Intellectual Disabilities, 2021
Smith-Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age,…
Descriptors: Genetic Disorders, Behavior Problems, Emotional Problems, Age Differences
Nag, Heidi Elisabeth; Hoxmark, Lise Beate; Naerland, Terje – Journal of Intellectual Disabilities, 2019
The experience of having a rare disorder was summarised in a large study as 'falling outside the vast field of knowledge of the professionals'. Parents (31 mothers and 17 fathers) of 32 persons with Smith-Magenis syndrome (SMS) participated in this study. A phenomenological approach was used to analyse the data into topics and themes. Four themes…
Descriptors: Genetic Disorders, Intellectual Disability, Behavior Problems, Parents
Sjögreen, Lotta; Mårtensson, Åsa; Ekström, Anne-Berit – International Journal of Language & Communication Disorders, 2018
Background: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). Aims: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound…
Descriptors: Diseases, Muscular Strength, Speech Impairments, Video Technology
Larsson, Henrik; Anckarsater, Henrik; Rastam, Maria; Chang, Zheng; Lichtenstein, Paul – Journal of Child Psychology and Psychiatry, 2012
Background: Although the clinical utility of categorically defined attention-deficit hyperactivity disorder (ADHD) is well established, there is also strong evidence supporting the notion of ADHD as an extreme of a continuous trait. Nevertheless, the question of whether the etiology is the same for different levels of DSM-IV ADHD symptoms remains…
Descriptors: Attention Deficit Hyperactivity Disorder, Twins, Incidence, Genetics
Schendel, Diana E.; Bresnahan, Michaeline; Carter, Kim W.; Francis, Richard W.; Gissler, Mika; Grønborg, Therese K.; Gross, Raz; Gunnes, Nina; Hornig, Mady; Hultman, Christina M.; Langridge, Amanda; Lauritsen, Marlene B.; Leonard, Helen; Parner, Erik T.; Reichenberg, Abraham; Sandin, Sven; Sourander, Andre; Stoltenberg, Camilla; Suominen, Auli; Surén, Pål; Susser, Ezra – Journal of Autism and Developmental Disorders, 2013
The International Collaboration for Autism Registry Epidemiology (iCARE) is the first multinational research consortium (Australia, Denmark, Finland, Israel, Norway, Sweden, USA) to promote research in autism geographical and temporal heterogeneity, phenotype, family and life course patterns, and etiology. iCARE devised solutions to challenges in…
Descriptors: Autism, Epidemiology, International Cooperation, Consortia
Eriksson, Mats Anders; Westerlund, Joakim; Anderlid, Britt Marie; Gillberg, Christopher; Fernell, Elisabeth – Research in Developmental Disabilities: A Multidisciplinary Journal, 2012
Prenatal risk factors, with special focus on gender distribution of neurodevelopmental and psychiatric conditions were analysed in first-degree relatives in a population-based group of young children with autism spectrum disorders (ASD). Multiple information sources were combined. This group was contrasted with the general population regarding…
Descriptors: Mothers, Autism, Young Children, Risk
Wahlqvist, Moa; Moller, Claes; Moller, Kerstin; Danermark, Berth – Journal of Visual Impairment & Blindness, 2013
Introduction: The objectives of the study reported here were to describe the physical and psychological health of persons with Usher syndrome Type II (USH2) and to explore any differences in terms of gender. Methods: The participants were recruited from the Swedish Usher database. In the first step, 122 persons received the questionnaire by mail,…
Descriptors: Public Health, Well Being, Measures (Individuals), Identification (Psychology)
Hartelius, Lena; Jonsson, Maria; Rickeberg, Anneli; Laakso, Katja – International Journal of Language & Communication Disorders, 2010
Background: As an effect of the cognitive, emotional and motor symptoms associated with Huntington's disease, communicative interaction is often dramatically changed. No study has previously included the subjective reports on this subject from individuals with Huntington's disease. Aims: To explore the qualitative aspects of how communication is…
Descriptors: Genetic Disorders, Neurological Impairments, Adults, Family (Sociological Unit)
Ebejer, Jane L.; Coventry, William L.; Byrne, Brian; Willcutt, Erik G.; Olson, Richard K.; Corley, Robin; Samuelsson, Stefan – Scientific Studies of Reading, 2010
Twin children from Australia, Scandinavia, and the United States were assessed for inattention, hyperactivity-impulsivity, and reading across the first 3 school years. Univariate behavior-genetic analyses indicated substantial heritability for all three variables in all years. Longitudinal analyses showed one genetic source operating across the…
Descriptors: Elementary School Students, Foreign Countries, Attention Deficit Hyperactivity Disorder, Genetic Disorders
Saldert, Charlotta; Fors, Angelika; Stroberg, Sofia; Hartelius, Lena – International Journal of Language & Communication Disorders, 2010
Background: Huntington's disease not only affects motor speech control, but also may have an impact on the ability to produce and understand language in communication. Aims: The ability to comprehend basic and complex discourse was investigated in three different stages of Huntington's disease. Methods & Procedures: In this experimental group…
Descriptors: Experimental Groups, Control Groups, Sentences, Communication Problems
