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Giovannone, Nikole; Theodore, Rachel M. – Journal of Speech, Language, and Hearing Research, 2021
Purpose: The extant literature suggests that individual differences in speech perception can be linked to broad receptive language phenotype. For example, a recent study found that individuals with a smaller receptive vocabulary showed diminished lexically guided perceptual learning compared to individuals with a larger receptive vocabulary. Here,…
Descriptors: Individual Differences, Genetics, Auditory Perception, Speech Communication
Oerlemans, Anoek M.; Hartman, Catharina A.; Bruijn, Yvette G. E.; Franke, Barbara; Buitelaar, Jan K.; Rommelse, Nanda N. J. – Journal of Child Psychology and Psychiatry, 2015
Background: We may improve our understanding of the role of common versus unique risk factors in attention-deficit/hyperactivity disorder (ADHD) by examining ADHD-related cognitive deficits in single- (SPX), and multi-incidence (MPX) families. Given that individuals from multiplex (MPX) families are likely to share genetic vulnerability for the…
Descriptors: Incidence, Attention Deficit Hyperactivity Disorder, Role, Neurological Impairments
Spencer, Michael D.; Holt, Rosemary J.; Chura, Lindsay R.; Calder, Andrew J.; Suckling, John; Bullmore, Edward T.; Baron-Cohen, Simon – Brain, 2012
Atypical activation during the Embedded Figures Task has been demonstrated in autism, but has not been investigated in siblings or related to measures of clinical severity. We identified atypical activation during the Embedded Figures Task in participants with autism and unaffected siblings compared with control subjects in a number of temporal…
Descriptors: Interpersonal Relationship, Autism, Cognitive Style, Siblings
Galli, Manuela; Cimolin, Veronica; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform…
Descriptors: Visual Perception, Patients, Muscular Strength, Mental Retardation
Farzin, Faraz; Rivera, Susan M.; Whitney, David – Brain, 2011
Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism. Individuals with fragile X syndrome present with a neurobehavioural phenotype that includes selective deficits in spatiotemporal visual perception associated with neural processing in frontal-parietal networks of the…
Descriptors: Attention, Infants, Visual Perception, Genetic Disorders
Verdine, Brian N.; Troseth, Georgene L.; Hodapp, Robert M.; Dykens, Elisabeth M. – American Journal on Mental Retardation, 2008
Some individuals with Prader-Willi syndrome exhibit strengths in solving jigsaw puzzles. We compared visuospatial ability and jigsaw puzzle performance and strategies of 26 persons with Prader-Willi syndrome and 26 MA-matched typically developing controls. Individuals with Prader-Willi syndrome relied on piece shape. Those in the control group…
Descriptors: Mental Retardation, Racial Differences, Spatial Ability, Visual Perception
Farzin, Faraz; Rivera, Susan M.; Hessl, David – Journal of Autism and Developmental Disorders, 2009
Gaze avoidance is a hallmark behavioral feature of fragile X syndrome (FXS), but little is known about whether abnormalities in the visual processing of faces, including disrupted autonomic reactivity, may underlie this behavior. Eye tracking was used to record fixations and pupil diameter while adolescents and young adults with FXS and sex- and…
Descriptors: Young Adults, Human Body, Genetics, Genetic Disorders
Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"
Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene – Brain, 2008
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…
Descriptors: Visual Impairments, Eye Movements, Visual Acuity, Depth Perception
Calkins, Monica E.; Iacono, William G.; Ones, Deniz S. – Brain and Cognition, 2008
Several forms of eye movement dysfunction (EMD) are regarded as promising candidate endophenotypes of schizophrenia. Discrepancies in individual study results have led to inconsistent conclusions regarding particular aspects of EMD in relatives of schizophrenia patients. To quantitatively evaluate and compare the candidacy of smooth pursuit,…
Descriptors: Eye Movements, Schizophrenia, Patients, Genetics
Levy, Deborah L.; Bowman, Elizabeth A.; Abel, Larry; Krastoshevsky, Olga; Krause, Verena; Mendell, Nancy R. – Brain and Cognition, 2008
The "co-familiality" criterion for an endophenotype has two requirements: (1) clinically unaffected relatives as a group should show both a shift in mean performance and an increase in variance compared with controls; (2) performance scores should be heritable. Performance on the antisaccade task is one of several candidate endophenotypes for…
Descriptors: Intervals, Schizophrenia, Patients, Effect Size
Rose, Fredric E.; Lincoln, Alan J.; Lai, Zona; Ene, Michaela; Searcy, Yvonne M.; Bellugi, Ursula – Journal of Autism and Developmental Disorders, 2007
We sought to clarify the nature of the face processing strength commonly observed in individuals with Williams syndrome (WS) by comparing the face recognition ability of persons with WS to that of persons with autism and to healthy controls under three conditions: Upright faces with neutral expressions, upright faces with varying affective…
Descriptors: Recognition (Psychology), Autism, Visual Perception, Affective Behavior
Bish, Joel P.; Chiodo, Renee; Mattei, Victoria; Simon, Tony J. – Brain and Cognition, 2007
One of the defining cognitive characteristics of the chromosome 22q deletion syndrome (DS22q11.2) is visuospatial processing impairments. The purpose of this study was to investigate and extend the specific attentional profile of children with this disorder using both an object-based attention task and an inhibition of return task. A group of…
Descriptors: Cues, Object Permanence, Inhibition, Genetics
Marini, A.; Lorusso, M. L.; D'Angelo, M. G.; Civati, F.; Turconi, A. C.; Fabbro, F.; Bresolin, N. – Brain and Language, 2007
The present work investigated cognitive, linguistic and narrative abilities in a group of children suffering from Duchenne Muscular Dystrophy, an allelic X-linked recessive disorder caused by mutations in the gene encoding dystrophin. The patients showed mildly reduced IQ with lower Verbal than Performance Intelligence Quotient and were mildly…
Descriptors: Verbs, Patients, Linguistics, Short Term Memory
Levy, Yonata – Journal of Child Language, 2004
Williams syndrome (WS) is often cited as the prime example within developmental disorders of the dissociation of language from other cognitive skills, particularly from visuo-motor skills. This claim has been responsible for the challenges posed by this population to cognitive theories and to models of language acquisition. Two Hebrew-speaking…
Descriptors: Longitudinal Studies, Developmental Disabilities, Genetics, Language Acquisition

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