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Direct linkGurkan, C. Kagan; Hagerman, Randi J. – Research in Autism Spectrum Disorders, 2012
Autism is a neurodevelopmental disorder consisting of a constellation of symptoms that sometimes occur as part of a complex disorder characterized by impairments in social interaction, communication and behavioral domains. It is a highly disabling disorder and there is a need for treatment targeting the core symptoms. Although autism is accepted…
Descriptors: Genetic Disorders, Autism, Asperger Syndrome, Genetics
Lee, Nancy Raitano; Wallace, Gregory L.; Adeyemi, Elizabeth I.; Lopez, Katherine C.; Blumenthal, Jonathan D.; Clasen, Liv S.; Giedd, Jay N. – Journal of Child Psychology and Psychiatry, 2012
Background: Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and…
Descriptors: Autism, Language Impairments, Language Skills, Genetic Disorders
Tye, Charlotte; Rijsdijk, Fruhling; Greven, Corina U.; Kuntsi, Jonna; Asherson, Philip; McLoughlin, Grainne – Journal of Child Psychology and Psychiatry, 2012
Background: Attention deficit hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder with a complex aetiology. The identification of candidate intermediate phenotypes that are both heritable and genetically linked to ADHD may facilitate the detection of susceptibility genes and elucidate aetiological pathways.…
Descriptors: Attention Deficit Hyperactivity Disorder, Twins, Genetics, Genetic Disorders
Silberg, Judy L.; Maes, Hermine; Eaves, Lindon J. – Journal of Child Psychology and Psychiatry, 2012
Background: A critical issue in devising effective interventions for the treatment of children's behavioral and emotional problems identifying genuine family environmental factors that place children at risk. In most twin and family studies, environmental factors are confounded with both direct genetic risk from parents and the indirect effect of…
Descriptors: Emotional Problems, Twins, Parent Influence, Hyperactivity
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
Steele, Ann; Scerif, Gaia; Cornish, Kim; Karmiloff-Smith, Annette – Journal of Child Psychology and Psychiatry, 2013
Background: In typical development, early reading is underpinned by language skills, like vocabulary and phonological awareness (PA), as well as taught skills like letter knowledge. Less is understood about how early reading develops in children with neurodevelopmental disorders who display specific profiles of linguistic strengths and weaknesses,…
Descriptors: Genetic Disorders, Vocabulary Development, Receptive Language, Control Groups
Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette – British Journal of Developmental Psychology, 2013
Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…
Descriptors: Down Syndrome, Congenital Impairments, Genetic Disorders, Developmental Disabilities
Download full textInteragency Autism Coordinating Committee, 2016
Each year, the Interagency Autism Coordinating Committee (IACC) releases its annual list of scientific advances that represent significant progress in the field. The 20 studies selected have given new insight into the underlying biology of autism spectrum disorder (ASD) and potential risk factors, tested approaches for improving early screening…
Descriptors: Pervasive Developmental Disorders, Autism, Incidence, At Risk Persons
Scallan, Susan; Senior, Joyce; Reilly, Colin – Journal of Applied Research in Intellectual Disabilities, 2011
Background: Despite the distinctive physical, cognitive, personality and behavioural characteristics associated with Williams syndrome, few studies to date have examined parental experiences of raising a child with this genetic syndrome. Methods: This explorative pilot study employed predominantly qualitative methodologies via face-to-face…
Descriptors: Family Environment, Developmental Disabilities, Interviews, Genetic Disorders
Rhodes, Sinead M.; Riby, Deborah M.; Fraser, Emma; Campbell, Lorna Elise – Brain and Cognition, 2011
The present study investigated verbal and spatial working memory (WM) functioning in individuals with the neuro-developmental disorder Williams syndrome (WS) using WM component tasks. While there is strong evidence of WM impairments in WS, previous research has focused on short-term memory and has neglected assessment of executive components of…
Descriptors: Short Term Memory, Verbal Ability, Spatial Ability, Executive Function
Ireland, Penelope Jane; McGill, James; Zankl, Andreas; Ware, Robert S.; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth M.; Townshend, Sharron; Johnston, Leanne Marie – Developmental Medicine & Child Neurology, 2011
Aim: The aim of this study was to determine population-specific developmental milestones for independence in self-care, mobility, and social cognitive skills in children with achondroplasia, the most common skeletal dysplasia. Methods: Population-based recruitment from October 2008 to October 2010 identified 44 Australian children with…
Descriptors: Foreign Countries, Young Children, Genetic Disorders, Child Development
Woodward, Alicia – Exceptional Parent, 2011
Celiac disease is a genetic autoimmune disorder characterized by a heightened sensitivity to gluten, the protein in wheat, barley and rye. The disease is more common than most people think, affecting approximately 3 million in the United States, about 1 in 100. One of the most notable things about celiac disease is that up to 97 percent of…
Descriptors: Caregivers, Diseases, Parents, Genetic Disorders
Perovic, Alexandra; Wexler, Kenneth – Journal of Speech, Language, and Hearing Research, 2010
Purpose: To experimentally investigate knowledge of passives of actional ("hold") and psychological ("love") verbs in children with Williams syndrome (WS). Passives are usually reported to be in line with mental age in WS. However, studies usually focus on passives of actional verbs only. Method: Twenty-six children with WS, ages 6-16, and 3…
Descriptors: Genetic Disorders, Verbs, Syntax, Children
Munce, T.; Heussler, H. S.; Bowling, F. G. – Journal of Intellectual Disability Research, 2010
Background: Current genotype-phenotype correlations in Prader-Willi syndrome (PWS) are struggling to give an explanation of the diversity in phenotype and there is a need to move towards a molecular understanding of PWS. A range of functions related to glycoproteins are involved in the pathophysiology of PWS and it may be that abnormal…
Descriptors: Mental Retardation, Genetic Disorders, Children, Physiology
DiMauro, Salvatore; Garone, Caterina – Developmental Disabilities Research Reviews, 2010
In this review, we trace the origins and follow the development of mitochondrial medicine from the premolecular era (1962-1988) based on clinical clues, muscle morphology, and biochemistry into the molecular era that started in 1988 and is still advancing at a brisk pace. We have tried to stress conceptual advances, such as endosymbiosis,…
Descriptors: History, Medicine, Biochemistry, Genetics
