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Maureen Dennis - One of the best experts on this subject based on the ideXlab platform.
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effects of reading goals on reading comprehension reading rate and allocation of working memory in children and adolescents with spina bifida meningomyelocele
Journal of The International Neuropsychological Society, 2010Co-Authors: Lianne H English, Marcia A. Barnes, Maureen Dennis, Jack M Fletcher, Kimberly P RaghubarAbstract:Spina bifida meningomyelocele (SBM) is a Neurodevelopmental Disorder Associated with intact word decoding and deficient text and discourse comprehension. This study investigated the ability to adjust reading in accordance with specified reading goals in 79 children and adolescents with SBM (9–19 years of age) and 39 controls (8–17 years of age). Both groups demonstrated slower reading times and enhanced comprehension when reading to study or to come up with a title than when reading for specific information or for entertainment. For both groups, verbal working memory contributed to comprehension performance in those reading conditions hypothesized to require more cognitive effort. Despite their sensitivity to the goals of reading, the group with SBM answered fewer comprehension questions correctly across all reading goal conditions. The results are discussed in relation to the hypothesized cognitive underpinnings of comprehension deficits in SBM and to current models of text comprehension.
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a model of comprehension in spina bifida meningomyelocele meaning activation integration and revision
Journal of The International Neuropsychological Society, 2007Co-Authors: Marcia A. Barnes, Joelene Huber, Amber M Johnston, Maureen DennisAbstract:Spina bifida meningomyelocele (SBM) is a Neurodevelopmental Disorder Associated with adequate development of word reading and single word comprehension, but deficient text and discourse comprehension. Studies of comprehension in children with SBM are reviewed in relation to a comprehension model in which meanings are either activated from the surface code or constructed through resource-intensive integration and revision processes to form representations of the text base and models of the situation described by the text. Two new studies probed the construction of situation models in SBM. Experiment 1 tested the ability to build spatial and affective situation models from single sentences in 86 children with SBM (8 to 18 years of age) and 37 control children (8 to 16 years of age). Experiment 2 tested the ability to integrate across sentences to build spatial situation models in 15 children with SBM and 15 age-matched controls. Compared to age peers, children with SBM did not construct situation models that required integration of information across sentences, even though they could construct such models from single sentences. The data bear on the distinctive SBM neurocognitive profile, and more generally, on the significance of integration processes for the constructive aspects of language comprehension.
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idiom comprehension deficits in relation to corpus callosum agenesis and hypoplasia in children with spina bifida meningomyelocele
Brain and Language, 2005Co-Authors: Joelene Huberokrainec, Susan E Blaser, Maureen DennisAbstract:Idioms are phrases with figurative meanings that are not directly derived from the literal meanings of the words in the phrase. Idiom comprehension varies with: literality, whether the idiom is literally plausible; compositionality, whether individual words contribute to a figurative meaning; and contextual bias. We studied idiom comprehension in children with spina bifida meningomyelocele (SBM), a Neurodevelopmental Disorder Associated with problems in discourse comprehension and agenesis and hypoplasia of the corpus callosum. Compared to age peers, children with SBM understood decomposable idioms (which are processed more like literal language) but not non-decomposable idioms (which require contextual analyses for acquisition). The impairment in non-decomposable idioms was related to congenital agenesis of the corpus callosum, which suggests that the consequences of impaired interhemispheric communication, whether congenital or acquired in adulthood, are borne more by configurational than by compositional language.
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Meaning construction and integration in children with hydrocephalus.
Brain and language, 2004Co-Authors: Marcia A. Barnes, Heather Faulkner, Margaret Wilkinson, Maureen DennisAbstract:Text comprehension processes were investigated in children with hydrocephalus, a Neurodevelopmental Disorder Associated with good word decoding, but deficient reading comprehension. In Experiment 1, hydrocephalus and control groups were similar in processes related to activating word meanings and using context to enhance meaning. The hydrocephalus group was poorer at suppressing contextually irrelevant meanings. In Experiment 2, the hydrocephalus group had difficulty integrating information from an earlier read sentence to understand a new sentence as textual distance between the two propositions increased, suggesting difficulty in reactivation processes related to comprehension. Results are discussed in relation to cognitive and neurocognitive models of comprehension.
Jonathan Picker - One of the best experts on this subject based on the ideXlab platform.
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De novo variants in HK1 Associated with Neurodevelopmental abnormalities and visual impairment
European Journal of Human Genetics, 2019Co-Authors: Volkan Okur, Jonathan Picker, Richard Van Wijk, Brigitte Van Oirschot, Stephanie A. Coury, Dorothy Grange, Linda Manwaring, Ian Krantz, Colleen Clark Muraresku, Peter J. HulickAbstract:Hexokinase 1 (HK1 ) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP). We report seven patients from six unrelated families with a Neurodevelopmental Disorder Associated with developmental delay, intellectual disability, structural brain abnormality, and visual impairments in whom we identified four novel, de novo missense variants in the N-terminal half of HK1. Hexokinase activity in red blood cells of two patients was normal, suggesting that the disease mechanism is not due to loss of hexokinase enzymatic activity.
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a novel Neurodevelopmental Disorder Associated with compound heterozygous variants in the huntingtin gene
European Journal of Human Genetics, 2016Co-Authors: Lance H Rodan, Julie S Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, James F Gusella, Jonathan PickerAbstract:A novel Neurodevelopmental Disorder Associated with compound heterozygous variants in the huntingtin gene
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De novo mutations in CSNK2A1 are Associated with Neurodevelopmental abnormalities and dysmorphic features
Human Genetics, 2016Co-Authors: Volkan Okur, Jonathan Picker, Lindsay Henderson, Kyle Retterer, Michael Schneider, Shannon Sattler, Dmitriy Niyazov, Meron Azage, Sharon Smith, Sharyn LincolnAbstract:Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants Associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with a Neurodevelopmental Disorder Associated with developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and dysmorphic features in whom we have identified de novo missense and canonical splice site mutations in CSNK2A1, the gene encoding CK2α, the catalytic subunit of protein kinase CK2, a ubiquitous serine/threonine kinase composed of two regulatory (β) and two catalytic (α and/or α′) subunits. Somatic mutations in CSNK2A1 have been implicated in various cancers; however, this is the first study to describe a human condition Associated with germline mutations in any of the CK2 subunits.
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A novel Neurodevelopmental Disorder Associated with compound heterozygous variants in the huntingtin gene.
European journal of human genetics : EJHG, 2016Co-Authors: Lance H Rodan, Julie S Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, James F Gusella, Jonathan PickerAbstract:We report compound heterozygous variants in HTT, the gene encoding huntingtin, in association with an autosomal recessive Neurodevelopmental Disorder. Three siblings presented with severe global developmental delay since birth, central hypotonia progressing to spastic quadraparesis, feeding difficulties, dystonia (2/3 sibs), prominent midline stereotypies (2/3), bruxism (1/3), high myopia (2/3), and epilepsy (1/3). Whole exome sequencing identified compound heterozygous variants in HTT that co-segregated in the three affected sibs and were absent in an unaffected sib. There were no additional variants in other genes that could account for the reported phenotype. Molecular analysis of HTT should be considered, not just for Huntington's disease, but also in children with a Rett-like syndrome who test negative for known Rett and Rett-like syndrome genes.
Marcia A. Barnes - One of the best experts on this subject based on the ideXlab platform.
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effects of reading goals on reading comprehension reading rate and allocation of working memory in children and adolescents with spina bifida meningomyelocele
Journal of The International Neuropsychological Society, 2010Co-Authors: Lianne H English, Marcia A. Barnes, Maureen Dennis, Jack M Fletcher, Kimberly P RaghubarAbstract:Spina bifida meningomyelocele (SBM) is a Neurodevelopmental Disorder Associated with intact word decoding and deficient text and discourse comprehension. This study investigated the ability to adjust reading in accordance with specified reading goals in 79 children and adolescents with SBM (9–19 years of age) and 39 controls (8–17 years of age). Both groups demonstrated slower reading times and enhanced comprehension when reading to study or to come up with a title than when reading for specific information or for entertainment. For both groups, verbal working memory contributed to comprehension performance in those reading conditions hypothesized to require more cognitive effort. Despite their sensitivity to the goals of reading, the group with SBM answered fewer comprehension questions correctly across all reading goal conditions. The results are discussed in relation to the hypothesized cognitive underpinnings of comprehension deficits in SBM and to current models of text comprehension.
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a model of comprehension in spina bifida meningomyelocele meaning activation integration and revision
Journal of The International Neuropsychological Society, 2007Co-Authors: Marcia A. Barnes, Joelene Huber, Amber M Johnston, Maureen DennisAbstract:Spina bifida meningomyelocele (SBM) is a Neurodevelopmental Disorder Associated with adequate development of word reading and single word comprehension, but deficient text and discourse comprehension. Studies of comprehension in children with SBM are reviewed in relation to a comprehension model in which meanings are either activated from the surface code or constructed through resource-intensive integration and revision processes to form representations of the text base and models of the situation described by the text. Two new studies probed the construction of situation models in SBM. Experiment 1 tested the ability to build spatial and affective situation models from single sentences in 86 children with SBM (8 to 18 years of age) and 37 control children (8 to 16 years of age). Experiment 2 tested the ability to integrate across sentences to build spatial situation models in 15 children with SBM and 15 age-matched controls. Compared to age peers, children with SBM did not construct situation models that required integration of information across sentences, even though they could construct such models from single sentences. The data bear on the distinctive SBM neurocognitive profile, and more generally, on the significance of integration processes for the constructive aspects of language comprehension.
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Meaning construction and integration in children with hydrocephalus.
Brain and language, 2004Co-Authors: Marcia A. Barnes, Heather Faulkner, Margaret Wilkinson, Maureen DennisAbstract:Text comprehension processes were investigated in children with hydrocephalus, a Neurodevelopmental Disorder Associated with good word decoding, but deficient reading comprehension. In Experiment 1, hydrocephalus and control groups were similar in processes related to activating word meanings and using context to enhance meaning. The hydrocephalus group was poorer at suppressing contextually irrelevant meanings. In Experiment 2, the hydrocephalus group had difficulty integrating information from an earlier read sentence to understand a new sentence as textual distance between the two propositions increased, suggesting difficulty in reactivation processes related to comprehension. Results are discussed in relation to cognitive and neurocognitive models of comprehension.
Allan L Reiss - One of the best experts on this subject based on the ideXlab platform.
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specific effect of the fragile x mental retardation 1 gene fmr1 on white matter microstructure
British Journal of Psychiatry, 2015Co-Authors: Tamar Green, Naama Barneagoraly, Mira M Raman, Scott S Hall, Amy A Lightbody, Jennifer L Bruno, Evemarie Quintin, Allan L ReissAbstract:Background Fragile-X syndrome (FXS) is a Neurodevelopmental Disorder Associated with intellectual disability and neurobiological abnormalities including white matter microstructural differences. White matter differences have been found relative to neurotypical individuals. Aims To examine whether FXS white matter differences are related specifically to FXS or more generally to the presence of intellectual disability. Method We used voxel-based and tract-based analytic approaches to compare individuals with FXS ( n = 40) with gender- and IQ-matched controls ( n = 30). Results Individuals with FXS had increased fractional anisotropy and decreased radial diffusivity values compared with IQ-matched controls in the inferior longitudinal, inferior fronto-occipital and uncinate fasciculi. Conclusions The genetic variation Associated with FXS affects white matter microstructure independently of overall IQ. White matter differences, found in FXS relative to IQ-matched controls, are distinct from reported differences relative to neurotypical controls. This underscores the need to consider cognitive ability differences when investigating white matter microstructure in Neurodevelopmental Disorders.
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3d pattern of brain abnormalities in williams syndrome visualized using tensor based morphometry
NeuroImage, 2007Co-Authors: Mingchang Chiang, Allan L Reiss, Ursula Bellugi, Albert M Galaburda, Julie R Korenberg, Debra L Mills, Arthur W Toga, Paul M ThompsonAbstract:Abstract Williams syndrome (WS) is a Neurodevelopmental Disorder Associated with deletion of ∼ 20 contiguous genes in chromosome band 7q11.23. Individuals with WS exhibit mild to moderate mental retardation, but are relatively more proficient in specific language and musical abilities. We used tensor-based morphometry (TBM) to visualize the complex pattern of gray/white matter reductions in WS, based on fluid registration of structural brain images. Methods: 3D T1-weighted brain MRIs of 41 WS subjects (age [mean ± SD]: 29.2 ± 9.2 years; 23F/18M) and 39 age-matched healthy controls (age: 27.5 ± 7.4 years; 23F/16M) were fluidly registered to a minimum deformation target. Fine-scale volumetric differences were mapped between diagnostic groups. Local regions were identified where regional structure volumes were Associated with diagnosis, and with intelligence quotient (IQ) scores. Brain asymmetry was also mapped and compared between diagnostic groups. Results: WS subjects exhibited widely distributed brain volume reductions (∼ 10–15% reduction; P Conclusion: TBM facilitates 3D visualization of brain volume reductions in WS. Reduced parietal/occipital volumes may be Associated with visuospatial deficits in WS. By contrast, frontal lobes, amygdala, and cingulate gyrus are relatively preserved or even enlarged, consistent with unusual affect regulation and language production in WS.
MM Robertson - One of the best experts on this subject based on the ideXlab platform.
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Tourette's syndrome (TS): cognitive performance in adults with uncomplicated TS.
Neuropsychology, 2006Co-Authors: MM RobertsonAbstract:Tourette's syndrome (TS) is a Neurodevelopmental Disorder Associated with frontostriatal dysfunction. The extent of any cognitive impairment Associated with uncomplicated TS is unclear, as comorbid psychiatric symptomatology is thought to contribute to cognitive deficits. Previous studies have found evidence of mild performance deficits, most commonly on tasks that involve inhibitory processes. The present study evaluated this in carefully screened adult participants with TS. The findings showed the TS group to perform more poorly on one test involving behavioral inhibition (sentence completion), but did not provide strong support for an interpretation based solely on inhibitory deficits, and there was no evidence of impairment on another behavioral inhibition task (flanker test). There were also no differences between the groups on tasks involving working memory (n-back), task switching, or object alternation learning. The findings provide further evidence that uncomplicated TS is Associated with only mild, circumscribed impairment. The nature of any impairment is discussed.