Search results

Title: Schooling and variation in the COMT gene: the devil is in the details..
Creator: Campbell, Daniel, Bick, Johanna, Yrigollen, Carolyn M, Lee, Maria, Joseph, Antony, Chang, Joseph T, Grigorenko, Elena L
Abstract/Description: Schooling is considered one of the major contributors to the development of intelligence within societies and individuals. Genetic variation might modulate the impact of schooling and explain, at least partially, the presence of individual differences in classrooms. We studied a sample of 1,502 children (mean age = 11.7 years) from Zambia. Approximately 57% of these children were enrolled in school, and the rest were not. To quantify genetic variation, we investigated a number of common...
Show moreSchooling is considered one of the major contributors to the development of intelligence within societies and individuals. Genetic variation might modulate the impact of schooling and explain, at least partially, the presence of individual differences in classrooms. We studied a sample of 1,502 children (mean age = 11.7 years) from Zambia. Approximately 57% of these children were enrolled in school, and the rest were not. To quantify genetic variation, we investigated a number of common polymorphisms in the catechol-O-methyltransferase (COMT) gene that controls the production of the protein thought to account for >60% of the dopamine degradation in the prefrontal cortex. Haplotype analyses generated results ranging from the presence to absence of significant interactions between a number of COMT haplotypes and indicators of schooling (i.e., in- vs. out-of-school and grade completed) in the prediction of nonverbal intelligence, depending on the parameter specification. However, an investigation of the distribution of corresponding p-values suggested that these positive results were false. Convincing evidence that the variation in the COMT gene is associated with individual differences in nonverbal intelligence either directly or through interactions with schooling was not found. p-values produced by the method of testing for haplotype effects employed here may be sensitive to parameter settings, invalid under default settings, and should be checked for validity through simulation.
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Date Issued: 2013-10-01
Identifier: FSU_pmch_23952646, 10.1111/jcpp.12120, PMC3786416, 23952646, 23952646
Format: Citation

Title: Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism..
Creator: Gulhan Ercan-Sencicek, A, Davis Wright, Nicole R, Frost, Stephen J, Fulbright, Robert K, Felsenfeld, Susan, Hart, Lesley, Landi, Nicole, Einar Mencl, W, Sanders, Stephan J, Pugh...
Show moreGulhan Ercan-Sencicek, A, Davis Wright, Nicole R, Frost, Stephen J, Fulbright, Robert K, Felsenfeld, Susan, Hart, Lesley, Landi, Nicole, Einar Mencl, W, Sanders, Stephan J, Pugh, Kenneth R, State, Matthew W, Grigorenko, Elena L
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Abstract/Description: Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of...
Show morePotocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism.
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Date Issued: 2012-09-01
Identifier: FSU_pmch_22178197, 10.1016/j.braindev.2011.11.003, PMC3343226, 22178197, 22178197, S0387-7604(11)00309-3
Format: Citation

Title: Same or different? Insights into the etiology of phonological awareness and rapid naming.
Creator: Naples, Adam J, Chang, Joseph T, Katz, Leonard, Grigorenko, Elena L
Abstract/Description: This work's objective was to offer additional insights into the psychological and genetic bases of reading ability and disability, and to evaluate the plausibility of a variety of psychological models of reading involving phonological awareness (PA) and rapid naming (RN), both hypothesized to be principal components in such models. In Study 1, 488 unselected families were assessed with measures of PA and RN to investigate familial aggregation and to obtain estimates of both the number and...
Show moreThis work's objective was to offer additional insights into the psychological and genetic bases of reading ability and disability, and to evaluate the plausibility of a variety of psychological models of reading involving phonological awareness (PA) and rapid naming (RN), both hypothesized to be principal components in such models. In Study 1, 488 unselected families were assessed with measures of PA and RN to investigate familial aggregation and to obtain estimates of both the number and effect-magnitude of genetic loci involved in these traits' transmission. The results of the analyses from Study 1 indicated the presence of genetic effects in the etiology of individual differences for PA and RN and pointed to both the shared and unique sources of this genetic variance, which appeared to be exerted by multiple (3-6 for PA and 3-5 for RN) genes. These results were used in Study 2 to parameterize a simulation of 3000 families with quantitatively distributed PA and RN, so that the robustness and generalizability of the Study 1 findings could be evaluated. The findings of both studies were interpreted according to established theories of reading and our own understanding of the etiology of complex developmental disorders.
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Date Issued: 2009-02-01
Identifier: FSU_pmch_19007845, 10.1016/j.biopsycho.2008.10.002, PMC2708917, 19007845, 19007845, S0301-0511(08)00203-2
Format: Citation

Title: An application of the elastic net for an endophenotype analysis.
Creator: Palejev, Dean, Hwang, Wookyeon, Landi, Nicole, Eastman, Maria, Frost, Stephen J, Fulbright, Robert K, Kidd, Judith R, Kidd, Kenneth K, Mason, Graeme F, Mencl, W Einar, Yrigollen...
Show morePalejev, Dean, Hwang, Wookyeon, Landi, Nicole, Eastman, Maria, Frost, Stephen J, Fulbright, Robert K, Kidd, Judith R, Kidd, Kenneth K, Mason, Graeme F, Mencl, W Einar, Yrigollen, Carolyn, Pugh, Kenneth R, Grigorenko, Elena L
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Abstract/Description: We provide an illustration of an application of the elastic net to a large number of common genetic variants in the context of the search for the genetic bases of an endophenotype conceivably related to individual differences in learning. GABA concentration in the occipital cortex, a critical area for reading, was obtained in a group (n = 76) of children aged 6-10 years. Two extreme groups, high and low, were selected for genotyping with the 650Y Illumina array chip (Ilmn650Y). An elastic net...
Show moreWe provide an illustration of an application of the elastic net to a large number of common genetic variants in the context of the search for the genetic bases of an endophenotype conceivably related to individual differences in learning. GABA concentration in the occipital cortex, a critical area for reading, was obtained in a group (n = 76) of children aged 6-10 years. Two extreme groups, high and low, were selected for genotyping with the 650Y Illumina array chip (Ilmn650Y). An elastic net approach was applied to the resulting SNP dataset; 100 SNPs were identified for each chromosome as "interesting" based on having the highest absolute value coefficients. The analyses highlighted chromosomes 15 and 20, which contained 55 candidate genes. The STRING partner analyses of the associated proteins pointed to a number of related genes, most notably, GABA and NTRK receptors.
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Date Issued: 2011-01-01
Identifier: FSU_pmch_21229297, 10.1007/s10519-011-9443-8, PMC3613288, 21229297, 21229297
Format: Citation

Title: A balanced t(10;15) translocation in a male patient with developmental language disorder.
Creator: Ercan-Sencicek, A Gulhan, Davis Wright, Nicole R, Sanders, Stephan J, Oakman, Nicole, Valdes, Lianna, Bakkaloglu, Betul, Doyle, Niamh, Yrigollen, Carolyn M, Morgan, Thomas M,...
Show moreErcan-Sencicek, A Gulhan, Davis Wright, Nicole R, Sanders, Stephan J, Oakman, Nicole, Valdes, Lianna, Bakkaloglu, Betul, Doyle, Niamh, Yrigollen, Carolyn M, Morgan, Thomas M, Grigorenko, Elena L
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Abstract/Description: We report the clinical and cytogenetic findings on a male child with developmental language disorder, no physical abnormalities, and a balanced t(10;15)(q24.1;q21.1) translocation. As the child's parents are unavailable for investigations, it is unclear whether the translocation is inherited or de novo. Fluorescence in situ hybridization (FISH) analyses were carried out using specific RP11-BAC clones mapping near 15q21.1 and 10q24.1 to refine the location of the breakpoints. The breakpoint on...
Show moreWe report the clinical and cytogenetic findings on a male child with developmental language disorder, no physical abnormalities, and a balanced t(10;15)(q24.1;q21.1) translocation. As the child's parents are unavailable for investigations, it is unclear whether the translocation is inherited or de novo. Fluorescence in situ hybridization (FISH) analyses were carried out using specific RP11-BAC clones mapping near 15q21.1 and 10q24.1 to refine the location of the breakpoints. The breakpoint on 15q21.1 interrupts the SEMA6D gene and the breakpoint on 10q24.1 is located between the ENTPD1 and CCNJ genes. The SEMA6D gene was further investigated in samples of individuals with developmental language disorders and controls; this investigation offered further evidence of the involvement of SEMA6D with developmental language disorders.
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Date Issued: 2012-02-01
Identifier: FSU_pmch_22266071, 10.1016/j.ejmg.2011.12.005, PMC3322462, 22266071, 22266071, S1769-7212(11)00134-0
Format: Citation

Title: Cross-informant symptoms from CBCL, TRF, and YSR: trait and method variance in a normative sample of Russian youths..
Creator: Grigorenko, Elena L, Geiser, Christian, Slobodskaya, Helena R, Francis, David J
Abstract/Description: A large community-based sample of Russian youths (n = 841, age M = 13.17 years, SD = 2.51) was assessed with the Child Behavior Checklist (mothers and fathers separately), Teacher's Report Form, and Youth Self-Report. The multiple indicator-version of the correlated trait-correlated method minus one, or CT-C(M - 1), model was applied to analyze (a) the convergent and divergent validity of these instruments in Russia, (b) the degree of trait-specificity of rater biases, and (c) potential...
Show moreA large community-based sample of Russian youths (n = 841, age M = 13.17 years, SD = 2.51) was assessed with the Child Behavior Checklist (mothers and fathers separately), Teacher's Report Form, and Youth Self-Report. The multiple indicator-version of the correlated trait-correlated method minus one, or CT-C(M - 1), model was applied to analyze (a) the convergent and divergent validity of these instruments in Russia, (b) the degree of trait-specificity of rater biases, and (c) potential predictors of rater-specific effects. As expected, based on the published results from different countries and in different languages, the convergent validity of the instruments was rather high between mother and father reports, but rather low for parent, teacher, and self-reports. For self- and teacher reports, rater-specific effects were related to age and gender of the children for some traits. These results, once again, attest to the importance of incorporating information from multiple observers when psychopathological traits are evaluated in children and adolescents.
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Date Issued: 2010-12-01
Identifier: FSU_pmch_21133549, 10.1037/a0020703, PMC4315166, 21133549, 21133549, 2010-24850-006
Format: Citation

Title: At the height of fashion: what genetics can teach us about neurodevelopmental disabilities..
Creator: Grigorenko, Elena L
Abstract/Description: The last decade has generated much interest in the genetics of developmental disorders. This interest, in part, is focused on two issues: the specificity/generality and the type/frequency of the genetic mechanisms involved. First, it appears that studies are more fruitful and their results more replicable, broadly speaking, when they conceptualize disorders not holistically, as categorical units, but componentially, through various quantitative processes. Second, there have been several...
Show moreThe last decade has generated much interest in the genetics of developmental disorders. This interest, in part, is focused on two issues: the specificity/generality and the type/frequency of the genetic mechanisms involved. First, it appears that studies are more fruitful and their results more replicable, broadly speaking, when they conceptualize disorders not holistically, as categorical units, but componentially, through various quantitative processes. Second, there have been several successful investigations of severe impairments in a number of isolated families with higher than typical frequencies of developmental disorders. Yet, it has been difficult to generalize the genetic mechanisms involved in these rare cases to the general population. Current findings suggest the involvement of multiple genetic mechanisms in the manifestations of childhood-onset conditions. It is possible that each 'facet' (or component) of a disorder is controlled by a semi-independent set of genes. Numerous components appear to be deficient in more than one disorder, possibly explaining comorbidity. The genetic foundation of developmental disorders may be formed not by isolated genes, but rather by a combination of genes and the pathways that these genes regulate. These accumulating findings have direct implications for designing both diagnostic and treatment approaches to childhood-onset disorders.
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Date Issued: 2009-04-01
Identifier: FSU_pmch_19532035, 10.1097/WCO.0b013e3283292414, PMC2891771, 19532035, 19532035, 00019052-200904000-00003
Format: Citation

Title: The BDNF Val66Met Polymorphism Influences Reading Ability and Patterns of Neural Activation in Children.
Creator: Jasińska, Kaja K, Molfese, Peter J, Kornilov, Sergey A, Mencl, W Einar, Frost, Stephen J, Lee, Maria, Pugh, Kenneth R, Grigorenko, Elena L, Landi, Nicole
Abstract/Description: Understanding how genes impact the brain's functional activation for learning and cognition during development remains limited. We asked whether a common genetic variant in the BDNF gene (the Val66Met polymorphism) modulates neural activation in the young brain during a critical period for the emergence and maturation of the neural circuitry for reading. In animal models, the bdnf variation has been shown to be associated with the structure and function of the developing brain and in humans...
Show moreUnderstanding how genes impact the brain's functional activation for learning and cognition during development remains limited. We asked whether a common genetic variant in the BDNF gene (the Val66Met polymorphism) modulates neural activation in the young brain during a critical period for the emergence and maturation of the neural circuitry for reading. In animal models, the bdnf variation has been shown to be associated with the structure and function of the developing brain and in humans it has been associated with multiple aspects of cognition, particularly memory, which are relevant for the development of skilled reading. Yet, little is known about the impact of the Val66Met polymorphism on functional brain activation in development, either in animal models or in humans. Here, we examined whether the BDNF Val66Met polymorphism (dbSNP rs6265) is associated with children's (age 6-10) neural activation patterns during a reading task (n = 81) using functional magnetic resonance imaging (fMRI), genotyping, and standardized behavioral assessments of cognitive and reading development. Children homozygous for the Val allele at the SNP rs6265 of the BDNF gene outperformed Met allele carriers on reading comprehension and phonological memory, tasks that have a strong memory component. Consistent with these behavioral findings, Met allele carriers showed greater activation in reading-related brain regions including the fusiform gyrus, the left inferior frontal gyrus and left superior temporal gyrus as well as greater activation in the hippocampus during a word and pseudoword reading task. Increased engagement of memory and spoken language regions for Met allele carriers relative to Val/Val homozygotes during reading suggests that Met carriers have to exert greater effort required to retrieve phonological codes.
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Date Issued: 2016-08-23
Identifier: FSU_pmch_27551971, 10.1371/journal.pone.0157449, PMC4995017, 27551971, 27551971, PONE-D-15-48171
Format: Citation

Title: The BDNF ValMet polymorphism is associated with structural neuroanatomical differences in young children.
Creator: Jasińska, Kaja K, Molfese, Peter J, Kornilov, Sergey A, Mencl, W Einar, Frost, Stephen J, Lee, Maria, Pugh, Kenneth R, Grigorenko, Elena L, Landi, Nicole
Abstract/Description: The brain-derived neurotrophic factor (BDNF) ValMet single nucleotide polymorphism (SNP) has been associated with individual differences in brain structure and function, and cognition. Research on BDNF's influence on brain and cognition has largely been limited to adults, and little is known about the association of this gene, and specifically the ValMet polymorphism, with developing brain structure and emerging cognitive functions in children. We performed a targeted genetic association...
Show moreThe brain-derived neurotrophic factor (BDNF) ValMet single nucleotide polymorphism (SNP) has been associated with individual differences in brain structure and function, and cognition. Research on BDNF's influence on brain and cognition has largely been limited to adults, and little is known about the association of this gene, and specifically the ValMet polymorphism, with developing brain structure and emerging cognitive functions in children. We performed a targeted genetic association analysis on cortical thickness, surface area, and subcortical volume in 78 children (ages 6-10) who were Val homozygotes (homozygous Val/Val carriers) or Met carriers (Val/Met, Met/Met) for the ValMet locus using Atlas-based brain segmentation. We observed greater cortical thickness for Val homozygotes in regions supporting declarative memory systems (anterior temporal pole/entorhinal cortex), consistent with adult findings. Met carriers had greater surface area in the prefrontal and parietal cortices and greater cortical thickness in lateral occipital/parietal cortex in contrast to prior adult findings that may relate to performance on cognitive tasks supported by these regions in Met carriers. Finally, we found larger right hippocampal volume in Met carriers, although inconsistent with adult findings (generally reports larger volumes for Val homozygotes), is consistent with a recent finding in children. Gene expression levels vary across different brain regions and across development and our findings highlight the need to consider this developmental change in explorations of BDNF-brain relationships. The impact of the BDNF ValMet polymorphism on the structure of the developing brain therefore reflects regionally-specific developmental changes in BDNF expression and cortical maturation trajectories.
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Date Issued: 2017-06-15
Identifier: FSU_pmch_28359883, 10.1016/j.bbr.2017.03.014, PMC5536104, 28359883, 28359883, S0166-4328(16)30644-1
Format: Citation

Title: Attentional but not pre-attentive neural measures of auditory discrimination are atypical in children with developmental language disorder.
Creator: Kornilov, Sergey A, Landi, Nicole, Rakhlin, Natalia, Fang, Shin-Yi, Grigorenko, Elena L, Magnuson, James S
Abstract/Description: We examined neural indices of pre-attentive phonological and attentional auditory discrimination in children with developmental language disorder (DLD, n = 23) and typically developing (n = 16) peers from a geographically isolated Russian-speaking population with an elevated prevalence of DLD. Pre-attentive phonological MMN components were robust and did not differ in two groups. Children with DLD showed attenuated P3 and atypically distributed P2 components in the attentional auditory...
Show moreWe examined neural indices of pre-attentive phonological and attentional auditory discrimination in children with developmental language disorder (DLD, n = 23) and typically developing (n = 16) peers from a geographically isolated Russian-speaking population with an elevated prevalence of DLD. Pre-attentive phonological MMN components were robust and did not differ in two groups. Children with DLD showed attenuated P3 and atypically distributed P2 components in the attentional auditory discrimination task; P2 and P3 amplitudes were linked to working memory capacity, development of complex syntax, and vocabulary. The results corroborate findings of reduced processing capacity in DLD and support a multifactorial view of the disorder.
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Date Issued: 2014-01-01
Identifier: FSU_pmch_25350759, 10.1080/87565641.2014.960964, PMC4399717, 25350759, 25350759
Format: Citation

Title: Education in Juvenile Detention Facilities in the State of Connecticut: A Glance at the System..
Creator: Macomber, Donna, Skiba, Thomas, Blackmon, Jaime, Esposito, Elisa, Hart, Lesley, Mambrino, Elisa, Richie, Thompson, Grigorenko, Elena L
Abstract/Description: The state of Connecticut detained 7,444 children and youth and committed approximately 270 to the Department of Children and Families for out of home placement in the 2007-2008 calendar year. A significant number of children and youth have special education needs that are often unidentified by home school districts. State and federal law mandate the provision of special education and related services to this population. In addition, education of these individuals is imperative as research...
Show moreThe state of Connecticut detained 7,444 children and youth and committed approximately 270 to the Department of Children and Families for out of home placement in the 2007-2008 calendar year. A significant number of children and youth have special education needs that are often unidentified by home school districts. State and federal law mandate the provision of special education and related services to this population. In addition, education of these individuals is imperative as research indicates educational success is a key component for decreasing recidivism (relapse into unlawful activity) rates and providing opportunities toward productive adulthood. The cost of recidivism to detention is not only monetary; criminal misconduct also threatens the safety of society members as well. The Yale University Child Study Center under the auspices of the Connecticut Judicial Branch, Court Support Services Division (CSSD) conducted a situational analysis of the juvenile detention centers and community residential centers. The focus of this analysis was to: (1) describe the educational characteristics of detained children and youth; (2) describe the educational programs currently used in detention and assess whether the educational programming provided is consistent with the framework of the State of Connecticut Department of Education; (3) typify the community of teachers working with students in detention, identify systemic obstacles and/or challenges to educating this population, ascertain the pathways of educational records of detained children and youth; and (4) identify system barriers or challenges to delivering education to this population and teaching in detention or alternative to detention settings. This report is a summary of findings.
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Date Issued: 2010-09-01
Identifier: FSU_pmch_26379367, PMC4569007, 26379367, 26379367
Format: Citation

Title: Reading and a diffusion model analysis of reaction time.
Creator: Naples, Adam, Katz, Leonard, Grigorenko, Elena L
Abstract/Description: Processing speed is associated with reading performance. However, the literature is not clear either on the definition of processing speed or on why and how it contributes to reading performance. In this study we demonstrated that processing speed, as measured by reaction time, is not a unitary construct. Using the diffusion model of two-choice reaction time, we assessed processing speed in a series of same-different reaction time tasks for letter and number strings. We demonstrated that the...
Show moreProcessing speed is associated with reading performance. However, the literature is not clear either on the definition of processing speed or on why and how it contributes to reading performance. In this study we demonstrated that processing speed, as measured by reaction time, is not a unitary construct. Using the diffusion model of two-choice reaction time, we assessed processing speed in a series of same-different reaction time tasks for letter and number strings. We demonstrated that the association between reaction time and reading performance is driven by processing speed for reading-related information, but not motor or sensory encoding speed.
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Date Issued: 2012-01-01
Identifier: FSU_pmch_22612543, 10.1080/87565641.2011.614979, PMC3388803, 22612543, 22612543
Format: Citation

Title: Spelling well despite developmental language disorder: what makes it possible?.
Creator: Rakhlin, Natalia, Cardoso-Martins, Cláudia, Kornilov, Sergey A, Grigorenko, Elena L
Abstract/Description: The goal of the study was to investigate the overlap between developmental language disorder (DLD) and developmental dyslexia, identified through spelling difficulties (SD), in Russian-speaking children. In particular, we studied the role of phoneme awareness (PA), rapid automatized naming (RAN), pseudoword repetition (PWR), morphological (MA), and orthographic awareness (OA) in differentiating between children with DLD who have SD from children with DLD who are average spellers by comparing...
Show moreThe goal of the study was to investigate the overlap between developmental language disorder (DLD) and developmental dyslexia, identified through spelling difficulties (SD), in Russian-speaking children. In particular, we studied the role of phoneme awareness (PA), rapid automatized naming (RAN), pseudoword repetition (PWR), morphological (MA), and orthographic awareness (OA) in differentiating between children with DLD who have SD from children with DLD who are average spellers by comparing the two groups to each other, to typically developing children as well as children with SD but without spoken language deficits. One hundred forty-nine children, aged 10.40 to 14.00 years, participated in the study. The results indicated that the SD, DLD, and DLD/SD groups did not differ from each other on PA and RAN Letters and underperformed in comparison to the control groups. However, whereas the children with written language deficits (SD and DLD/SD groups) underperformed on RAN Objects and Digits, PWR, OA, and MA, the children with DLD and no SD performed similarly to the children from the control groups on these measures. In contrast, the two groups with spoken language deficits (DLD and DLD/SD) underperformed on RAN Colors in comparison to the control groups and the group of children with SD only. The results support the notion that those children with DLD who have unimpaired PWR and RAN skills are able to overcome their weaknesses in spoken language and PA and acquire basic literacy on a par with their age peers with typical language. We also argue that our findings support a multifactorial model of DLD.
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Date Issued: 2013-10-01
Identifier: FSU_pmch_23860907, 10.1007/s11881-013-0084-x, PMC3787991, 23860907, 23860907
Format: Citation

Title: Sources of Cognitive Exploration: Genetic Variation in the Prefrontal Dopamine System Predicts Openness/Intellect..
Creator: Deyoung, Colin G, Cicchetti, Dante, Rogosch, Fred A, Gray, Jeremy R, Eastman, Maria, Grigorenko, Elena L
Abstract/Description: The personality trait Openness/Intellect reflects the tendency to be imaginative, curious, perceptive, artistic, and intellectual-all characteristics that involve cognitive exploration. Little is known about the biological basis of Openness/Intellect, but the trait has been linked to cognitive functions of prefrontal cortex, and the neurotransmitter dopamine plays a key role in motivation to explore. The hypothesis that dopamine is involved in Openness/Intellect was supported by examining its...
Show moreThe personality trait Openness/Intellect reflects the tendency to be imaginative, curious, perceptive, artistic, and intellectual-all characteristics that involve cognitive exploration. Little is known about the biological basis of Openness/Intellect, but the trait has been linked to cognitive functions of prefrontal cortex, and the neurotransmitter dopamine plays a key role in motivation to explore. The hypothesis that dopamine is involved in Openness/Intellect was supported by examining its association with two genes that are central components of the prefrontal dopaminergic system. In two demographically different samples (children: N = 608; adults: N = 214), variation in the dopamine D4 receptor gene (DRD4) and the catechol-O-methyltransferase gene (COMT) predicted Openness/Intellect, as main effects in the child sample and in interaction in adults.
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Date Issued: 2011-08-01
Identifier: FSU_pmch_21804655, 10.1016/j.jrp.2011.04.002, PMC3143482, 21804655, 21804655
Format: Citation

Title: Teaching children with autism to read for meaning: challenges and possibilities..
Creator: Randi, Judi, Newman, Tina, Grigorenko, Elena L
Abstract/Description: The purpose of this literature review is to examine what makes reading for understanding especially challenging for children on the autism spectrum, most of whom are skilled at decoding and less skilled at comprehension. This paper first summarizes the research on reading comprehension with a focus on the cognitive skills and processes that are involved in gaining meaning from text and then reviews studies of reading comprehension deficits in children on the spectrum. The paper concludes with...
Show moreThe purpose of this literature review is to examine what makes reading for understanding especially challenging for children on the autism spectrum, most of whom are skilled at decoding and less skilled at comprehension. This paper first summarizes the research on reading comprehension with a focus on the cognitive skills and processes that are involved in gaining meaning from text and then reviews studies of reading comprehension deficits in children on the spectrum. The paper concludes with a review of reading comprehension interventions for children on the spectrum. These children can especially benefit from interventions addressing particular cognitive processes, such as locating antecedent events, generating and answering questions, locating referents, and rereading to repair understanding.
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Date Issued: 2010-07-01
Identifier: FSU_pmch_20101452, 10.1007/s10803-010-0938-6, PMC2892026, 20101452, 20101452
Format: Citation

Title: Age-related changes of gene expression in the neocortex: preliminary data on RNA-Seq of the transcriptome in three functionally distinct cortical areas..
Creator: Naumova, Oksana Yu, Palejev, Dean, Vlasova, Natalia V, Lee, Maria, Rychkov, Sergei Yu, Babich, Olga N, M Vaccarino, Flora, Grigorenko, Elena L
Abstract/Description: The study of gene expression (i.e., the study of the transcriptome) in different cells and tissues allows us to understand the molecular mechanisms of their differentiation, development and functioning. In this article, we describe some studies of gene-expression profiling for the purposes of understanding developmental (age-related) changes in the brain using different technologies (e.g., DNA-Microarray) and the new and increasingly popular RNA-Seq. We focus on advancements in studies of...
Show moreThe study of gene expression (i.e., the study of the transcriptome) in different cells and tissues allows us to understand the molecular mechanisms of their differentiation, development and functioning. In this article, we describe some studies of gene-expression profiling for the purposes of understanding developmental (age-related) changes in the brain using different technologies (e.g., DNA-Microarray) and the new and increasingly popular RNA-Seq. We focus on advancements in studies of gene expression in the human brain, which have provided data on the structure and age-related variability of the transcriptome in the brain. We present data on RNA-Seq of the transcriptome in three distinct areas of the neocortex from different ages: mature and elderly individuals. We report that most age-related transcriptional changes affect cellular signaling systems, and, as a result, the transmission of nerve impulses. In general, the results demonstrate the high potential of RNA-Seq for the study of distinctive features of gene expression among cortical areas and the changes in expression through normal and atypical development of the central nervous system.
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Date Issued: 2012-11-01
Identifier: FSU_pmch_23062308, 10.1017/S0954579412000818, PMC3539811, 23062308, 23062308, S0954579412000818
Format: Citation

Title: Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.
Creator: Kornilov, Sergey A, Rakhlin, Natalia, Koposov, Roman, Lee, Maria, Yrigollen, Carolyn, Caglayan, Ahmet Okay, Magnuson, James S, Mane, Shrikant, Chang, Joseph T, Grigorenko, Elena L
Abstract/Description: Developmental language disorder (DLD) is a highly prevalent neurodevelopmental disorder associated with negative outcomes in different domains; the etiology of DLD is unknown. To investigate the genetic underpinnings of DLD, we performed genome-wide association and whole exome sequencing studies in a geographically isolated population with a substantially elevated prevalence of the disorder (ie, the AZ sample). DNA samples were collected from 359 individuals for the genome-wide association...
Show moreDevelopmental language disorder (DLD) is a highly prevalent neurodevelopmental disorder associated with negative outcomes in different domains; the etiology of DLD is unknown. To investigate the genetic underpinnings of DLD, we performed genome-wide association and whole exome sequencing studies in a geographically isolated population with a substantially elevated prevalence of the disorder (ie, the AZ sample). DNA samples were collected from 359 individuals for the genome-wide association study and from 12 severely affected individuals for whole exome sequencing. Multifaceted phenotypes, representing major domains of expressive language functioning, were derived from collected speech samples. Gene-based analyses revealed a significant association between SETBP1 and complexity of linguistic output (P = 5.47 × 10(-7)). The analysis of exome variants revealed coding sequence variants in 14 genes, most of which play a role in neural development. Targeted enrichment analysis implicated myocyte enhancer factor-2 (MEF2)-regulated genes in DLD in the AZ population. The main findings were successfully replicated in an independent cohort of children at risk for related disorders (n = 372). MEF2-regulated pathways were identified as potential candidate pathways in the etiology of DLD. Several genes (including the candidate SETBP1 and other MEF2-related genes) seem to jointly influence certain, but not all, facets of the DLD phenotype. Even when genetic and environmental diversity is reduced, DLD is best conceptualized as etiologically complex. Future research should establish whether the signals detected in the AZ population can be replicated in other samples and languages and provide further characterization of the identified pathway.
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Date Issued: 2016-04-01
Identifier: FSU_pmch_27016271, 10.1542/peds.2015-2469, PMC4811310, 27016271, 27016271, peds.2015-2469
Format: Citation

Title: Gender and agreement processing in children with developmental language disorder.
Creator: Rakhlin, Natalia, Kornilov, Sergey A, Grigorenko, Elena L
Abstract/Description: Two experiments tested whether Russian-speaking children with Developmental Language Disorder (DLD) are sensitive to gender agreement when performing a gender decision task. In Experiment 1, the presence of overt gender agreement between verbs and/or adjectival modifiers and postverbal subject nouns memory was varied. In Experiment 2, agreement violations were introduced and the targets varied between words, pseudo-words, or pseudo-words with derivational suffixes. In both experiments,...
Show moreTwo experiments tested whether Russian-speaking children with Developmental Language Disorder (DLD) are sensitive to gender agreement when performing a gender decision task. In Experiment 1, the presence of overt gender agreement between verbs and/or adjectival modifiers and postverbal subject nouns memory was varied. In Experiment 2, agreement violations were introduced and the targets varied between words, pseudo-words, or pseudo-words with derivational suffixes. In both experiments, children with DLD did not differ from typically developing children in their reaction time or sensitivity to agreement features. In both groups, trials with feminine gender resulted in a higher error rate. Children with DLD displayed lower overall accuracy, which was related to differences in phonological memory in both experiments. Furthermore, in Experiment 1 group differences were not maintained after phonological memory was entered as a covariate. The results are discussed with respect to various processing and linguistic theories of DLD.
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Date Issued: 2014-03-01
Identifier: FSU_pmch_23390959, 10.1017/S030500091200058X, PMC4573562, 23390959, 23390959, S030500091200058X
Format: Citation

Title: Gene expression in the human brain: the current state of the study of specificity and spatiotemporal dynamics..
Creator: Naumova, Oksana Yu, Lee, Maria, Rychkov, Sergei Yu, Vlasova, Natalia V, Grigorenko, Elena L
Abstract/Description: Gene expression is one of the main molecular processes regulating the differentiation, development, and functioning of cells and tissues. In this review a handful of relevant terms and concepts are introduced and the most common techniques used in studies of gene expression/expression profiling (also referred to as studies of the transcriptome or transcriptomics) are described. The main foci of this review are the advancements in studies of the transcriptome in the human brain, the...
Show moreGene expression is one of the main molecular processes regulating the differentiation, development, and functioning of cells and tissues. In this review a handful of relevant terms and concepts are introduced and the most common techniques used in studies of gene expression/expression profiling (also referred to as studies of the transcriptome or transcriptomics) are described. The main foci of this review are the advancements in studies of the transcriptome in the human brain, the transcriptome's variability across different brain structures, and the systematic changes that occur through different developmental stages across the life span in general and childhood in particular. Finally, the question of how the accumulating data on the spatial and temporal dynamics of the transcriptome may shed light on the molecular mechanisms of the typical and atypical development of the central nervous system is addressed.
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Date Issued: 2013-01-01
Identifier: FSU_pmch_23145569, 10.1111/cdev.12014, PMC3557706, 23145569, 23145569
Format: Citation

Title: Lexical processing deficits in children with developmental language disorder: An event-related potentials study..
Creator: Kornilov, Sergey A, Magnuson, James S, Rakhlin, Natalia, Landi, Nicole, Grigorenko, Elena L
Abstract/Description: Lexical processing deficits in children with developmental language disorder (DLD) have been postulated to arise as sequelae of their grammatical deficits (either directly or via compensatory mechanisms) and vice versa. We examined event-related potential indices of lexical processing in children with DLD (n = 23) and their typically developing peers (n = 16) using a picture-word matching paradigm. We found that children with DLD showed markedly reduced N400 amplitudes in response both to...
Show moreLexical processing deficits in children with developmental language disorder (DLD) have been postulated to arise as sequelae of their grammatical deficits (either directly or via compensatory mechanisms) and vice versa. We examined event-related potential indices of lexical processing in children with DLD (n = 23) and their typically developing peers (n = 16) using a picture-word matching paradigm. We found that children with DLD showed markedly reduced N400 amplitudes in response both to auditorily presented words that had initial phonological overlap with the name of the pictured object and to words that were not semantically or phonologically related to the pictured object. Moreover, this reduction was related to behavioral indices of phonological and lexical but not grammatical development. We also found that children with DLD showed a depressed phonological mapping negativity component in the early time window, suggesting deficits in phonological processing or early lexical access. The results are partially consistent with the overactivation account of lexical processing deficits in DLD and point to the relative functional independence of lexical/phonological and grammatical deficits in DLD, supporting a multidimensional view of the disorder. The results also, although indirectly, support the neuroplasticity account of DLD, according to which language impairment affects brain development and shapes the specific patterns of brain responses to language stimuli.
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Date Issued: 2015-05-01
Identifier: FSU_pmch_25997765, 10.1017/S0954579415000097, PMC4606961, 25997765, 25997765, S0954579415000097
Format: Citation

Title: Lexical decision as an endophenotype for reading comprehension: an exploration of an association..
Creator: Naples, Adam, Katz, Len, Grigorenko, Elena L
Abstract/Description: Based on numerous suggestions in the literature, we evaluated lexical decision (LD) as a putative endophenotype for reading comprehension by investigating heritability estimates and segregation analyses parameter estimates for both of these phenotypes. Specifically, in a segregation analysis of a large sample of families, we established that there is little to no overlap between genes contributing to LD and reading comprehension and that the genetic mechanism behind LD derived from this...
Show moreBased on numerous suggestions in the literature, we evaluated lexical decision (LD) as a putative endophenotype for reading comprehension by investigating heritability estimates and segregation analyses parameter estimates for both of these phenotypes. Specifically, in a segregation analysis of a large sample of families, we established that there is little to no overlap between genes contributing to LD and reading comprehension and that the genetic mechanism behind LD derived from this analysis appears to be more complex than that for reading comprehension. We conclude that in our sample, LD is not a good candidate as an endophenotype for reading comprehension, despite previous suggestions from the literature. Based on this conclusion, we discuss the role and benefit of the endophenotype approach in studies of complex human cognitive functions.
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Date Issued: 2012-11-01
Identifier: FSU_pmch_23062302, 10.1017/S0954579412000752, PMC3541527, 23062302, 23062302, S0954579412000752
Format: Citation

Title: In search of the perfect phenotype: an analysis of linkage and association studies of reading and reading-related processes..
Creator: Skiba, Thomas, Landi, Nicole, Wagner, Richard, Grigorenko, Elena L
Abstract/Description: Reading ability and specific reading disability (SRD) are complex traits involving several cognitive processes and are shaped by a complex interplay of genetic and environmental forces. Linkage studies of these traits have identified several susceptibility loci. Association studies have gone further in detecting candidate genes that might underlie these signals. These results have been obtained in samples of mainly European ancestry, which vary in their languages, inclusion criteria, and...
Show moreReading ability and specific reading disability (SRD) are complex traits involving several cognitive processes and are shaped by a complex interplay of genetic and environmental forces. Linkage studies of these traits have identified several susceptibility loci. Association studies have gone further in detecting candidate genes that might underlie these signals. These results have been obtained in samples of mainly European ancestry, which vary in their languages, inclusion criteria, and phenotype assessments. Such phenotypic heterogeneity across samples makes understanding the relationship between reading (dis)ability and reading-related processes and the genetic factors difficult; in addition, it may negatively influence attempts at replication. In moving forward, the identification of preferable phenotypes for future sample collection may improve the replicability of findings. This review of all published linkage and association results from the past 15 years was conducted to determine if certain phenotypes produce more replicable and consistent results than others.
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Date Issued: 2011-01-01
Identifier: FSU_pmch_21243420, 10.1007/s10519-011-9444-7, PMC3056345, 21243420, 21243420
Format: Citation

Title: Identifying learning patterns of children at risk for Specific Reading Disability.
Creator: Barbot, Baptiste, Krivulskaya, Suzanna, Hein, Sascha, Reich, Jodi, Thuma, Philip E, Grigorenko, Elena L
Abstract/Description: Differences in learning patterns of vocabulary acquisition in children at risk (+SRD) and not at risk (-SRD) for Specific Reading Disability (SRD) were examined using a microdevelopmental paradigm applied to the multi-trial Foreign Language Learning Task (FLLT; Baddeley et al., 1995). The FLLT was administered to 905 children from rural Chitonga-speaking Zambia. A multi-group Latent Growth Curve Model (LGCM) was implemented to study interindividual differences in intraindividual change across...
Show moreDifferences in learning patterns of vocabulary acquisition in children at risk (+SRD) and not at risk (-SRD) for Specific Reading Disability (SRD) were examined using a microdevelopmental paradigm applied to the multi-trial Foreign Language Learning Task (FLLT; Baddeley et al., 1995). The FLLT was administered to 905 children from rural Chitonga-speaking Zambia. A multi-group Latent Growth Curve Model (LGCM) was implemented to study interindividual differences in intraindividual change across trials. Results showed that the +SRD group recalled fewer words correctly in the first trial, learned at a slower rate during the subsequent trials, and demonstrated a more linear learning pattern compared to the -SRD group. This study illustrates the promise of LGCM applied to multi-trial learning tasks, by isolating three components of the learning process (initial recall, rate of learning, and functional pattern of learning). Implications of this microdevelopmental approach to SRD research in low-to-middle income countries are discussed.
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Date Issued: 2016-05-01
Identifier: FSU_pmch_26037654, 10.1111/desc.12313, PMC4751058, 26037654, 26037654
Format: Citation

Title: Behavior, brain, and genome in genomic disorders: finding the correspondences..
Creator: Grigorenko, Elena L, Urban, Alexander E, Mencl, Einar
Abstract/Description: Within the last decade or so, there has been an acceleration of research attempting to connect specific genetic lesions to the patterns of brain structure and activation. This article comments on observations that have been made based on these recent data and discusses their importance for the field of investigations into developmental disorders. In making these observations, the authors focus on one specific genomic lesion, the well-studied, yet still incompletely understood, 22q11.2...
Show moreWithin the last decade or so, there has been an acceleration of research attempting to connect specific genetic lesions to the patterns of brain structure and activation. This article comments on observations that have been made based on these recent data and discusses their importance for the field of investigations into developmental disorders. In making these observations, the authors focus on one specific genomic lesion, the well-studied, yet still incompletely understood, 22q11.2 deletion syndrome. The authors demonstrate the degree of variability in the phenotype that occurs at both the brain and behavioral levels of genomic disorders and describe how this variability is, on close inspection, represented at the genomic level. The authors emphasize the importance of combining genetic/genomic analyses and neuroimaging for research and for future clinical diagnostic purposes and for the purposes of developing individualized, patient-tailored treatment and remediation approaches.
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Date Issued: 2010-09-01
Identifier: FSU_pmch_20814258, 10.1097/DBP.0b013e3181f5a0a1, PMC4124614, 20814258, 20814258, 00004703-201009000-00013
Format: Citation

Title: The COMT Val/Met polymorphism is associated with reading-related skills and consistent patterns of functional neural activation.
Creator: Landi, Nicole, Frost, Stephen J, Mencl, W Einar, Preston, Jonathan L, Jacobsen, Leslie K, Lee, Maria, Yrigollen, Carolyn, Pugh, Kenneth R, Grigorenko, Elena L
Abstract/Description: In both children and adults there is large variability in reading skill, with approximately 5-10% of individuals characterized as having reading disability; these individuals struggle to learn to read despite adequate intelligence and opportunity. Although it is well established that a substantial portion of this variability is attributed to the genetic differences between individuals, specifics of the connections between reading and the genome are not understood. This article presents data...
Show moreIn both children and adults there is large variability in reading skill, with approximately 5-10% of individuals characterized as having reading disability; these individuals struggle to learn to read despite adequate intelligence and opportunity. Although it is well established that a substantial portion of this variability is attributed to the genetic differences between individuals, specifics of the connections between reading and the genome are not understood. This article presents data that suggest that variation in the COMT gene, which has previously been associated with variation in higher-order cognition, is associated with reading and reading-related skills, at the level of both brain and behavior. In particular, we found that the COMT Val/Met polymorphism at rs4680, which results in the substitution of the ancestral Valine (Val) by Methionine (Met), was associated with better performance on a number of critical reading measures and with patterns of functional neural activation that have been linked to better readers. We argue that this polymorphism, known for its broad effects on cognition, may modulate (likely through frontal lobe function) reading skill.
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Date Issued: 2013-01-01
Identifier: FSU_pmch_23278923, 10.1111/j.1467-7687.2012.01180.x, PMC3655431, 23278923, 23278923
Format: Citation

Title: Childhood adversity and DNA methylation of genes involved in the hypothalamus-pituitary-adrenal axis and immune system: whole-genome and candidate-gene associations..
Creator: Bick, Johanna, Naumova, Oksana, Hunter, Scott, Barbot, Baptiste, Lee, Maria, Luthar, Suniya S, Raefski, Adam, Grigorenko, Elena L
Abstract/Description: In recent years, translational research involving humans and animals has uncovered biological and physiological pathways that explain associations between early adverse circumstances and long-term mental and physical health outcomes. In this article, we summarize the human and animal literature demonstrating that epigenetic alterations in key biological systems, the hypothalamus-pituitary-adrenal axis and immune system, may underlie such disparities. We review evidence suggesting that changes...
Show moreIn recent years, translational research involving humans and animals has uncovered biological and physiological pathways that explain associations between early adverse circumstances and long-term mental and physical health outcomes. In this article, we summarize the human and animal literature demonstrating that epigenetic alterations in key biological systems, the hypothalamus-pituitary-adrenal axis and immune system, may underlie such disparities. We review evidence suggesting that changes in DNA methylation profiles of the genome may be responsible for the alterations in hypothalamus-pituitary-adrenal axis and immune system trajectories. Using some preliminary data, we demonstrate how explorations of genome-wide and candidate-gene DNA methylation profiles may inform hypotheses and guide future research efforts in these areas. We conclude our article by discussing the many important future directions, merging perspectives from developmental psychology, molecular genetics, neuroendocrinology, and immunology, that are essential for furthering our understanding of how early adverse circumstances may shape developmental trajectories, particularly in the areas of stress reactivity and physical or mental health.
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Date Issued: 2012-11-01
Identifier: FSU_pmch_23062307, 10.1017/S0954579412000806, PMC3755948, 23062307, 23062307, S0954579412000806
Format: Citation

Title: Comparison of whole-genome DNA methylation patterns in whole blood, saliva, and lymphoblastoid cell lines.
Creator: Thompson, Tara M, Sharfi, Duaa, Lee, Maria, Yrigollen, Carolyn M, Naumova, Oksana Yu, Grigorenko, Elena L
Abstract/Description: Epigenetic mechanisms, including DNA methylation, that underlie neuropsychiatric conditions have become a promising area of research. Most commonly used DNA sources in such studies are peripheral (whole) blood (WB), saliva (SL), and lymphoblastoid cell lines (LCLs); thus, the question of the consistency of DNA methylation patterns in those cells is of particular interest. To investigate this question we performed comparative analyses of methylation patterns in WB, SL, and LCLs derived from...
Show moreEpigenetic mechanisms, including DNA methylation, that underlie neuropsychiatric conditions have become a promising area of research. Most commonly used DNA sources in such studies are peripheral (whole) blood (WB), saliva (SL), and lymphoblastoid cell lines (LCLs); thus, the question of the consistency of DNA methylation patterns in those cells is of particular interest. To investigate this question we performed comparative analyses of methylation patterns in WB, SL, and LCLs derived from the same individuals, using Illumina HumanMethylation27 BeadChip arrays. Our results showed that DNA methylation patterns in SL are relatively consistent with those in WB, whereas the patterns in LCLs are similarly distinct from both WB and SL. The results indicated that due to multiple random and directed changes in DNA methylation throughout cell culturing, LCLs are not a reliable source of DNA for epigenetic studies and should be used with caution when investigating epigenetic mechanisms underlying biological processes.
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Date Issued: 2013-03-01
Identifier: FSU_pmch_23269419, 10.1007/s10519-012-9579-1, PMC3577999, 23269419, 23269419
Format: Citation

Humans (25)	+ -
Child (23)	+ -
Male (16)	+ -
Female (15)	+ -
Adolescent (11)	+ -

Reading (8)	+ -
Language Development Disorders/physiopathology (5)	+ -
Language Tests (5)	+ -
Phenotype (5)	+ -
Phonetics (5)	+ -
Adult (4)	+ -
Genotype (4)	+ -
Aged (3)	+ -
Cognition/physiology (3)	+ -
Dyslexia/genetics (3)	+ -
Genetic Association Studies (3)	+ -
Magnetic Resonance Imaging (3)	+ -
Middle Aged (3)	+ -
Models, Psychological (3)	+ -
Neuropsychological Tests (3)	+ -
Polymorphism, Single Nucleotide/genetics (3)	+ -
Young Adult (3)	+ -
Aging/genetics (2)	+ -
Autistic Disorder (2)	+ -
Awareness/physiology (2)	+ -
Brain-Derived Neurotrophic Factor/genetics (2)	+ -
Brain/physiopathology (2)	+ -
Case-Control Studies (2)	+ -
Catechol O-Methyltransferase/genetics (2)	+ -
Child Language (2)	+ -

text (27)	+ -
journal article (8)	+ -

Lee, Maria (9)	+ -
Landi, Nicole (8)	+ -
Kornilov, Sergey A (7)	+ -
Frost, Stephen J (5)	+ -
Pugh, Kenneth R (5)	+ -

Rakhlin, Natalia (5)	+ -
Mencl, W Einar (4)	+ -
Chang, Joseph T (3)	+ -
Magnuson, James S (3)	+ -
Naumova, Oksana Yu (3)	+ -
Yrigollen, Carolyn (3)	+ -
Yrigollen, Carolyn M (3)	+ -
Barbot, Baptiste (2)	+ -
Bick, Johanna (2)	+ -
Davis Wright, Nicole R (2)	+ -
Eastman, Maria (2)	+ -
Fulbright, Robert K (2)	+ -
Hart, Lesley (2)	+ -
Jasińska, Kaja K (2)	+ -
Katz, Leonard (2)	+ -
Molfese, Peter J (2)	+ -
Naples, Adam (2)	+ -
Palejev, Dean (2)	+ -
Rychkov, Sergei Yu (2)	+ -
Sanders, Stephan J (2)	+ -
Skiba, Thomas (2)	+ -
Vlasova, Natalia V (2)	+ -
Babich, Olga N (1)	+ -
Bakkaloglu, Betul (1)	+ -

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