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Direct linkSigafoos, Jeff; Green, Vanessa A.; Schlosser, Ralf; O'eilly, Mark F.; Lancioni, Giulio E.; Rispoli, Mandy; Lang, Russell – Research in Autism Spectrum Disorders, 2009
We reviewed communication intervention studies involving people with Rett syndrome. Systematic searches of five electronic databases, selected journals, and reference lists identified nine studies meeting the inclusion criteria. These studies were evaluated in terms of: (a) participant characteristics, (b) target skills, (c) procedures, (d) main…
Descriptors: Participant Characteristics, Intervention, Receptive Language, Language Skills
Nobile, Maria; Rusconi, Marianna; Bellina, Monica; Marino, Cecilia; Giorda, Roberto; Carlet, Ombretta; Vanzin, Laura; Molteni, Massimo; Battaglia, Marco – Journal of Child Psychology and Psychiatry, 2009
Background: Both genetic and psychosocial risk factors influence the risk for depression in development. While the impacts of family structure and of serotonergic polymorphisms upon individual differences for affective problems have been investigated separately, they have never been considered together in a gene-environment interplay perspective.…
Descriptors: At Risk Persons, Genetic Disorders, Family Structure, Genetics
Scheffer, Ingrid E.; Turner, Samantha J.; Dibbens, Leanne M.; Bayly, Marta A.; Friend, Kathryn; Hodgson, Bree; Burrows, Linda; Shaw, Marie; Wei, Chen; Ullmann, Reinhard; Ropers, Hans-Hilger; Szepetowski, Pierre; Haan, Eric; Mazarib, Aziz; Afawi, Zaid; Neufeld, Miriam Y.; Andrews, P. Ian; Wallace, Geoffrey; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally; Derry, Christopher P.; Korczyn, Amos D.; Gecz, Jozef; Mulley, John C.; Berkovic, Samuel F. – Brain, 2008
Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance recognition of this disorder. We ascertained four unrelated families (two Australian, two Israeli) where seizures in females were transmitted through…
Descriptors: Epilepsy, Mental Retardation, Females, Genetics
Kogan, C. S.; Boutet, I.; Cornish, K.; Graham, G. E.; Berry-Kravis, E.; Drouin, A.; Milgram, N. W. – Journal of Intellectual Disability Research, 2009
Background: Standardised neuropsychological and cognitive measures present some limitations in their applicability and generalisability to individuals with intellectual disability (ID). Alternative approaches to defining the cognitive signatures of various forms of ID are needed to advance our understanding of the profiles of strengths and…
Descriptors: Mental Retardation, Down Syndrome, Short Term Memory, Recognition (Psychology)
Scerif, Gaia; Cornish, Kim; Wilding, John; Driver, Jon; Karmiloff-Smith, Annette – Neuropsychologia, 2007
Fragile X syndrome (FXS) is due to the silencing of a single X-linked gene and it is associated with striking attentional difficulties. As FXS is well characterised at the cellular level, the condition provides a unique opportunity to investigate how a genetic dysfunction can impact on the development of neurocomputational properties relevant to…
Descriptors: Genetic Disorders, Mental Retardation, Attention Control, Children
Patterson, David – Mental Retardation and Developmental Disabilities Research Reviews, 2007
Down syndrome (DS) is the most common genetic cause of significant intellectual disability in the human population, occurring in roughly 1 in 700 live births. The ultimate cause of DS is trisomy of all or part of the set of genes located on chromosome 21. How this trisomy leads to the phenotype of DS is unclear. The completion of the DNA…
Descriptors: Down Syndrome, Genetics, Genetic Disorders, Mental Retardation
Martinez-Castilla, Pastora; Peppe, Sue – Clinical Linguistics & Phonetics, 2010
Well-documented Romance-Germanic differences in the use of accent in speech to convey information-structure and focus cause problems for the assessment of prosodic skills in populations with clinical disorders. The strategies for assessing the ability to use lexical and contrastive accent in English and Spanish are reviewed, and studies in the…
Descriptors: Speech Communication, Autism, Spanish, English
Buckley, Frank – Down Syndrome Research and Practice, 2008
Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…
Descriptors: Quality of Life, Down Syndrome, Genetics, Biomedicine
Schneider, Tanya L.; Linton, Brian R. – Journal of Chemical Education, 2008
An illuminating way to learn about protein function is to explore high-resolution protein structures. Analysis of the proteins involved in genetic diseases has been used to introduce students to protein structure and the role that individual mutations can play in the onset of disease. Known mutations can be correlated to changes in protein…
Descriptors: Genetic Disorders, Science Activities, Genetics, Experiential Learning
Matson, Johnny L.; Fodstad, Jill C.; Boisjoli, Jessica A. – Research in Autism Spectrum Disorders, 2008
Rett Syndrome is one of the least commonly occurring autism spectrum disorders (ASD), but certainly one of the most devastating. A genetic profile has been identified, but checklists still have an important role for prescreening, especially before expensive genetic testing, and to provide precise strengths and weaknesses with respect to the core…
Descriptors: Genetics, Profiles, Clinical Diagnosis, Pervasive Developmental Disorders
Roberts, Jane; Mazzocco, Michele M. M.; Murphy, Melissa M.; Hoehn-Saric, Rudolf – Journal of Autism and Developmental Disorders, 2008
The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance), across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was…
Descriptors: Females, Mental Computation, Arithmetic, Arousal Patterns
Download full textNwokeafor, Cosmas U. – Forum on Public Policy Online, 2009
Autism is a brain development disorder that is characterized by impaired social interaction, communication, restricted and repetitive behavior which starts before a child is three years old. As a result of the outcome of set of signs such as restricted and repetitive behaviors, autism distinguishes itself from milder Autism Spectrum Disorders…
Descriptors: Etiology, Autism, Interpersonal Relationship, Genetics
Galera, Cedric; Taupiac, Emmanuelle; Fraisse, Sonia; Naudion, Sophie; Toussaint, Eva; Rooryck-Thambo, Caroline; Delrue, Marie-Ange; Arveiler, Benoit; Lacombe, Didier; Bouvard, Manuel-Pierre – Journal of Autism and Developmental Disorders, 2009
Research regarding the behavioral aspects of children with Rubinstein-Taybi syndrome (RTS) has suggested some possible behavioral patterns including autistic features. Caregivers of 39 children (mean age = 8.4 years) with RTS (49% showing abnormality in "CREBBP" gene) and 39 children (mean age = 8.6 years) matched on developmental level,…
Descriptors: Check Lists, Attention Span, Social Behavior, Child Behavior
Nijmeijer, J. S.; Hoekstra, P. J.; Minderaa, R. B.; Buitelaar, J. K.; Altink, M. E.; Buschgens, C. J. M.; Fliers, E. A.; Rommelse, N. N. J.; Sergeant, J. A.; Hartman, C. A. – Journal of Abnormal Child Psychology, 2009
The aims of this study were to investigate whether subtle PDD symptoms in the context of ADHD are transmitted in families independent of ADHD, and whether PDD symptom familiality is influenced by gender and age. The sample consisted of 256 sibling pairs with at least one child with ADHD and 147 healthy controls, aged 5-19 years. Children who…
Descriptors: Siblings, Social Behavior, Attention Deficit Hyperactivity Disorder, Anxiety
Dawson, Vaille; Carson, Katherine; Venville, Grady – Teaching Science, 2010
The purpose of this project was to provide innovative and cutting edge genetics materials for 14-17 year olds (Year 10-12) in Australian schools, which aimed to engage students and encourage evidence based decision-making. In 2008, an Australian School Innovation in Science, Technology and Mathematics (ASISTM) project called "Genetics…
Descriptors: Feedback (Response), Genetics, Workshops, Foreign Countries
