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Direct linkTaeyeop Lee; Hyeji Lee; Soowhee Kim; Kee Jeong Park; Joon-Yong An; Hyo-Won Kim – Journal of Autism and Developmental Disorders, 2024
The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72-84 months). Exome sequencing was conducted and putative risk variants were identified.…
Descriptors: Developmental Disabilities, Children, Genetics, Risk
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
Womack, Sean R.; Beam, Christopher R.; Davis, Deborah Winders; Finkel, Deborah; Turkheimer, Eric – Developmental Psychology, 2022
Twins regularly score nearly a standard deviation below the population mean on standardized measures of cognitive development in infancy but recover to the population mean by early childhood, making rapid gains through the toddler years. To date, only polynomial growth models have been fit to model cognitive recovery across childhood, limiting the…
Descriptors: Twins, Cognitive Ability, Genetics, Environmental Influences
Farran, Emily K.; Purser, Harry R. M.; Jarrold, Christopher; Thomas, Michael S. C.; Scerif, Gaia; Stojanovik, Vesna; Van Herwegen, Jo – Developmental Science, 2024
Williams syndrome (WS) is a rare genetic syndrome. As with all rare syndromes, obtaining adequately powered sample sizes is a challenge. Here we present legacy data from seven UK labs, enabling the characterisation of cross-sectional and longitudinal developmental trajectories of verbal and non-verbal development in the largest sample of…
Descriptors: Genetic Disorders, Verbal Communication, Nonverbal Communication, Communication Skills
Bruno Sauce; John Wiedenhoeft; Nicholas Judd; Torkel Klingberg – npj Science of Learning, 2021
The interplay of genetic and environmental factors behind cognitive development has preoccupied multiple fields of science and sparked heated debates over the decades. Here we tested the hypothesis that developmental genes rely heavily on cognitive challenges - as opposed to natural maturation. Starting with a polygenic score (cogPGS) that…
Descriptors: Foreign Countries, Children, Adolescents, Short Term Memory
Corti, Claudia; Oldrati, Viola; Storm, Fabio; Bardoni, Alessandra; Strazzer, Sandra; Romaniello, Romina – Journal of Intellectual Disabilities, 2023
Increased attention is arising on the delivery of remote cognitive interventions, which allow performing exercises in everyday settings, favouring rehabilitation continuity. The present study offers an overview of remote cognitive training programs for children with congenital brain malformation or genetic syndrome affecting the central nervous…
Descriptors: Brain, Neurological Impairments, Genetic Disorders, Distance Education
Nelissen, Jo M. C. – Education and Society, 2021
In this article, it is argued that it makes sense to define and distinguish three levels of human intelligence: intelligence as genotypical potential, intelligence as actualised in environmental interaction, and intelligence as measured by tests (IQ). This raises the questions of what is meant by the term "intelligence as potential", and…
Descriptors: Genetics, Intelligence Quotient, Parent Influence, Individual Characteristics
Lai, Philip T.; Ng, Rowena; Bellugi, Ursula – International Journal of Developmental Disabilities, 2022
The majority of the research examining children with Autism Spectrum Disorder (ASD) and Williams Syndrome (WS) focus on the social domain while few have examined cognitive style and emotionality. Accordingly, this current study assessed the day-to-day cognitive and behavioral functioning of school-age children with ASD, WS, and neurotypical…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Children, Cognitive Ability
Taupiac, Emmanuelle; Lacombe, Didier; Thiébaut, Eric; Van-Gils, Julien; Michel, Grégory; Fergelot, Patricia; Adrien, Jean-Louis – Journal of Intellectual & Developmental Disability, 2021
Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing on children with RSTS, the aim of this study was to describe their psychomotor, cognitive, and socio-emotional developmental…
Descriptors: Genetic Disorders, Congenital Impairments, Severe Intellectual Disability, Children
Andres, Erin M.; Earnest, Kathleen Kelsey; Smith, Shelley D.; Rice, Mabel L.; Raza, Muhammad Hashim – Journal of Speech, Language, and Hearing Research, 2020
Purpose: Specific language impairment (SLI) is characterized by a delay in language acquisition despite a lack of other developmental delays or hearing loss. Genetics of SLI is poorly understood. The purpose of this study is to identify SLI genetic loci through family-based linkage mapping. Method: We performed genome-wide parametric linkage…
Descriptors: Genetics, Language Impairments, Developmental Delays, Hearing Impairments
Tillmann, J.; Ashwood, K.; Absoud, M.; Bölte, S.; Bonnet-Brilhault, F.; Buitelaar, J. K.; Calderoni, S.; Calvo, R.; Canal-Bedia, R.; Canitano, R.; De Bildt, A.; Gomot, M.; Hoekstra, P. J.; Kaale, A.; McConachie, H.; Murphy, D. G.; Narzisi, A.; Oosterling, I.; Pejovic-Milovancevic, M.; Persico, A. M.; Puig, O.; Roeyers, H.; Rommelse, N.; Sacco, R.; Scandurra, V.; Stanfield, A. C.; Zander, E.; Charman, T. – Journal of Autism and Developmental Disorders, 2018
Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and…
Descriptors: Gender Differences, Age Differences, Diagnostic Tests, Observation
Van Den Heuvel, Ellen; Manders, Eric; Swillen, Ann; Zink, Inge – Journal of Intellectual & Developmental Disability, 2017
Background: Children with 22q11.2 deletion syndrome (22q11.2DS) are reported to have socio-communicative impairments. Although many of these children are diagnosed with intellectual disability (ID) and/or autism spectrum disorder (ASD), these populations are seldom used as control groups. Hence, information regarding syndrome-specific…
Descriptors: Genetic Disorders, Communication Problems, Interpersonal Competence, Interpersonal Communication
Hilton, Caroline – International Journal of Disability, Development and Education, 2017
Apert syndrome is a rare condition, with a birth prevalence of approximately one in 65,000. This article provides an up-to-date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts. The purpose of the review is to provide a holistic description of the syndrome which should…
Descriptors: Genetic Disorders, Developmental Disabilities, Literature Reviews, Children
Alfieri, P.; Menghini, D.; Marotta, L.; De Peppo, L.; Ravà, L.; Salvaguardia, F.; Varuzza, C.; Vicari, S. – Journal of Intellectual Disability Research, 2017
Background: Individuals with Williams syndrome (WS) show a disharmonic linguistic profile with a clear pattern of strengths and weaknesses. Despite their sociable nature, atypical socio-communicative abilities and deficits in communication and relationship with others have been found. Aim: The aim of the present study was to investigate whether…
Descriptors: Intellectual Disability, Genetic Disorders, Language Skills, Interpersonal Communication
Download full textInteragency Autism Coordinating Committee, 2020
Each year, the Interagency Autism Coordinating Committee (IACC) releases a list of scientific advances that represent significant progress in the field. The "2020 Summary of Advances in Autism Research" provides short, plain language summaries of the top research breakthroughs selected by the IACC from a pool of research articles…
Descriptors: Autism Spectrum Disorders, Research, Research Methodology, Scientific Research
