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Direct linkWaite, Jane; Beck, Sarah R.; Powis, Laurie; Oliver, Chris – American Journal on Intellectual and Developmental Disabilities, 2023
In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive…
Descriptors: Executive Function, Repetition, Behavior Problems, Genetic Disorders
Pobric, Gorana; Taylor, Jason R.; Ramalingam, Hemavathy M.; Pye, Emily; Robinson, Louise; Vassallo, Grace; Jung, JeYoung; Bhandary, Misty; Szumanska-Ryt, Karolina; Theodosiou, Louise; Evans, D. Gareth; Eelloo, Judith; Burkitt-Wright, Emma; Hulleman, Johan; Green, Jonathan; Garg, Shruti – Journal of Autism and Developmental Disorders, 2022
Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared with controls on measures of WM and EEG was recorded during a WM nback task. The NF1 group showed…
Descriptors: Short Term Memory, Neurological Impairments, Genetic Disorders, Adolescents
Latha Valluripalli Soorya; Camille W. Brune; Cristan A. Farmer; Edith V. Ocampo; Natalie I. Berger; Deborah A. Pearson; Robyn M. Busch; Patricia Klaas; Paige Siper; Kristn Currans; Amanda C. Gulsrud; Jennifer M. Phillips; Rajna Filip-Dhima; Sarah E. O’Kelley; Thomas W. Frazier; Tess Levy; Allison L. Wainer; Joseph D. Buxbaum; Craig M. Powell; Jonathan A. Bernstein; Simon K. Warfield; Darcy A. Krueger; E. Martina Bebin; Hope Northrup; Shafali S. Jeste; Alexander Kolevzon; Elizabeth Berry-Kravis; Mustafa Sahin; Siddharth Srivastava; Audrey Thurm – American Journal on Intellectual and Developmental Disabilities, 2025
The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical trial readiness, including identifying clinical concepts and validating their measurement. We evaluated the scope and…
Descriptors: Intellectual Disability, Genetic Disorders, Neurological Impairments, Measurement Techniques
Uljarevic, Mirko; Frazier, Thomas W.; Rached, Gaëlle; Busch, Robyn M.; Klaas, Patricia; Srivastava, Siddharth; Martinez-Agosto, Julian A.; Sahin, Mustafa; Eng, Charis; Hardan, Antonio Y. – Journal of Autism and Developmental Disorders, 2022
This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with "PTEN" mutations and individuals with macrocephalic ASD. The sample included 38 individuals with "PTEN" mutation and ASD diagnosis ("PTEN"-ASD; M[subscript age] =…
Descriptors: Executive Function, Anxiety, Autism, Pervasive Developmental Disorders
Neal, Corinne N.; Brady, Nancy C.; Fleming, Kandace K. – American Journal on Intellectual and Developmental Disabilities, 2022
This study analyzed narratives of male and female adolescents with fragile X syndrome (FXS). The impact of structural language, cognition and autism symptomatology on narrative skills and the association between narratives and literacy were examined. Narratives from 32 adolescents with FXS (24 males, 8 females) were analyzed for macrostructure.…
Descriptors: Adolescents, Genetic Disorders, Gender Differences, Autism
Feller, Clémence; Dubois, Charlotte; Eliez, Stephan; Schneider, Maude – Journal of Autism and Developmental Disorders, 2021
Episodic future thinking (EFT) has been suggested to underlie anticipatory pleasure (AP), itself known to play a crucial role in social functioning (SF). Both AP and SF are impaired in various clinical populations, including autism spectrum disorders (ASD) and 22q11.2 deletion syndrome (22q11DS). Therefore, the relationship between EFT, AP and SF…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Cognitive Processes
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
Ethridge, Lauren; Thaliath, Andrew; Kraff, Jeremy; Nijhawan, Karan; Berry-Kravis, Elizabeth – American Journal on Intellectual and Developmental Disabilities, 2020
Auditory processing abnormalities in fragile X syndrome (FXS) may contribute to difficulties with language development, pattern identification, and contextual updating. Participants with FXS (N = 41) and controls (N = 27) underwent auditory event-related potentials during presentation of an oddball paradigm. Data was adequate for analysis for 33…
Descriptors: Auditory Perception, Cognitive Processes, Neurological Impairments, Genetic Disorders
Joyce, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara – American Journal on Intellectual and Developmental Disabilities, 2019
Sleep plays a key role in the consolidation of newly acquired information and skills into long term memory. Children with Down syndrome (DS) and Williams syndrome (WS) frequently experience sleep problems, abnormal sleep architecture, and difficulties with learning; thus, we predicted that children from these clinical populations would demonstrate…
Descriptors: Sleep, Cognitive Processes, Down Syndrome, Genetic Disorders
Cazalets, Jean René; Bestaven, Emma; Doat, Emilie; Baudier, Marie Pierre; Gallot, Cécile; Amestoy, Anouck; Bouvard, Manuel; Guillaud, Etienne; Guillain, Isabelle; Grech, Emelyne; Van-gils, Julien; Fergelot, Patricia; Fraisse, Sonia; Taupiac, Emmanuelle; Arveiler, Benoit; Lacombe, Didier – Journal of Autism and Developmental Disorders, 2017
Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing…
Descriptors: Psychomotor Skills, Genetic Disorders, Children, Intellectual Disability
Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert – Developmental Science, 2017
Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…
Descriptors: Mathematics Skills, Learning Disabilities, Genetic Disorders, Cognitive Processes
Margolis, Amy E.; Davis, Katie S.; Pao, Lisa S.; Lewis, Amy; Yang, Xiao; Tau, Gregory; Zhao, Guihu; Wang, Zhishun; Marsh, Rachel – Developmental Science, 2018
Verbal--spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non-Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the…
Descriptors: Verbal Ability, Spatial Ability, Autism, Pervasive Developmental Disorders
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
Chevalère, Johann; Postal, Virginie; Jauregui, Joseba; Copet, Pierre; Laurier, Virginie; Thuilleaux, Denise – American Journal on Intellectual and Developmental Disabilities, 2015
The aim of this study was to support the growing evidence suggesting that Prader-Willi Syndrome (PWS) might present with an impairment of executive functions (EFs) and to investigate whether this impairment is specific to patients with PWS or due to their intellectual disability (ID). Six tasks were administered to assess EFs (inhibition,…
Descriptors: Genetic Disorders, Disabilities, Executive Function, Neurological Impairments
Waite, Jane; Beck, Sarah R.; Heald, Mary; Powis, Laurie; Oliver, Chris – Journal of Autism and Developmental Disorders, 2016
Working memory (WM) impairments might amplify behavioural difference in genetic syndromes. Murine models of Rubinstein-Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in RTS. Individuals with RTS and typically developing children completed WM tasks, with participants with RTS completing an IQ assessment and…
Descriptors: Short Term Memory, Spatial Ability, Verbal Ability, Verbal Development
