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  • Gruen, Jeffrey R.  (22)
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  • 1
    Language: English
    In: Pediatrics, November 2006, Vol.118(5), pp.1858-63
    Description: The goals were to isolate and to estimate the genetic susceptibility to retinopathy of prematurity. A retrospective study (1994-2004) from 3 centers was performed with zygosity data for premature twins who were born at a gestational age of 〈 or = 32 weeks and survived beyond a postmenstrual age of 36 weeks. Retinopathy of prematurity was diagnosed and staged by pediatric ophthalmologists at each center. Data analyses were performed with mixed-effects logistic regression analysis and latent variable probit modeling. A total of 63 monozygotic and 137 dizygotic twin pairs were identified and analyzed. Data on gestational age, birth weight, gender, respiratory distress syndrome, retinopathy of prematurity, bronchopulmonary dysplasia, duration of ventilation and supplemental oxygen use, and length of stay were comparable between monozygotic and dizygotic twins. In the mixed-effects logistic regression analysis for retinopathy of prematurity, gestational age and duration of supplemental oxygen use were significant covariates. After controlling for known and unknown nongenetic factors, genetic factors accounted for 70.1% of the variance in liability for retinopathy of prematurity. In addition to prematurity and environmental factors, there is a strong genetic predisposition to retinopathy of prematurity.
    Keywords: Genetic Predisposition to Disease ; Retinopathy of Prematurity -- Genetics
    ISSN: 00314005
    E-ISSN: 1098-4275
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  • 2
    Language: English
    In: The Journal of Pediatrics, February 2011, Vol.158(2), pp.234-238.e1
    Description: To assess the genetic contribution to late-onset sepsis in twins in the newborn intensive care unit. A retrospective cohort analysis of twins born from 1994 to 2009 was performed on data collected from the newborn intensive care units at Yale University and the University of Connecticut. Sepsis concordance rates were compared between monozygotic and dizygotic twins. Mixed-effects logistic regression analysis was performed to determine the impact of selected nongenetic factors on late-onset sepsis. The influence of additive genetic and common and residual environmental effects were analyzed and quantified. One hundred seventy monozygotic and 665 dizygotic twin pairs were analyzed, and sepsis identified in 8.9%. Mean gestational age and birth weight of the cohort was 31.1 weeks and 1637 grams, respectively. Mixed-effects logistic regression determined birth weight (regression coefficient, −0.001; 95% CI, −0.003 to 0.000; = .028), respiratory distress syndrome (regression coefficient, 1.769; 95% CI, 0.943 to 2.596; 〈 .001), and duration of total parenteral nutrition (regression coefficient, 0.041; 95% CI, 0.017 to 0.064; 〈 .001) as significant nongenetic factors. Further analysis determined 49.0% ( = .002) of the variance in liability to late-onset sepsis was due to genetic factors alone, and 51.0% ( = .001) the result of residual environmental factors. Our data support significant genetic susceptibility to late-onset sepsis in the newborn intensive care unit population.
    Keywords: Medicine
    ISSN: 0022-3476
    E-ISSN: 1097-6833
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  • 3
    Language: English
    In: Seminars in Perinatology, December 2015, Vol.39(8), pp.568-573
    Description: Gene–environment interactions likely account for some degree of the variance in response rates that are clinically observed with antenatal corticosteroids, breast milk prophylaxis, surfactant administration, early recognition and treatment of sepsis, utility of non-invasive ventilation, and judicious exposure to supplemental oxygen. While these therapies and practice guidelines have significantly decreased overall neonatal mortality in the NICU, they have not made a marked impact on the frequency and severity of conditions such as bronchopulmonary dysplasia (BPD), necrotizing enterocolitis, and periventricular leukomalacia. One possible explanation is that genetic factors in the neonate modulate response to external intervention or preventative agents, culminating in variable levels of injury and different degrees of resolution and repair. Gene–environment explanations are supported by the observed heritability of BPD in twin studies, but they do not differentiate the interactions between neonate and offending toxin or pathogen, from interactions between neonate and intervention or therapeutic agent. Likely, both kinds of interactions are important in determining outcome.
    Keywords: Twin Studies ; Premature Newborn ; Rds ; IVH ; Bpd ; PDA ; NEC ; Rop ; Neonatal Sepsis ; Apnea of Prematurity ; Medicine
    ISSN: 0146-0005
    E-ISSN: 1558-075X
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  • 4
    Language: English
    In: NeuroImage, 15 October 2012, Vol.63(1), pp.148-156
    Description: Reading disability (RD) is a complex genetic disorder with unknown etiology. Genes on chromosome 6p22, including , , and , have been identified as RD associated genes. Imaging studies have shown both functional and structural differences between brains of individuals with and without RD. There are limited association studies performed between RD genes, specifically genes on 6p22, and regional brain activation during reading tasks. Using fourteen variants in , , and and exhaustive reading measures, we first tested for association with reading performance in 82 parent-offspring families (326 individuals). Next, we determined the association of these variants with activation of sixteen brain regions of interest during four functional magnetic resonance imaging-reading tasks. We nominally replicated associations between reading performance and variants of and . Furthermore, we observed a number of associations with brain activation patterns during imaging-reading tasks with all three genes. The strongest association occurred between activation of the left anterior inferior parietal lobe and complex tandem repeat BV677278 in (uncorrected p = 0.00003, q = 0.0442). Our results show that activation patterns across regions of interest in the brain are influenced by variants in the locus. The combination of genetic and functional imaging data show a link between genes and brain functioning during reading tasks in subjects with RD. This study highlights the many advantages of imaging data as an endophenotype for discerning genetic risk factors for RD and other communication disorders and underscores the importance of integrating neurocognitive, imaging, and genetic data in future investigations. ► Functional imaging data are an informative endophenotype for reading disability. ► A functional variant in associated with brain activation during reading tasks ► We nominally replicated association of with imaging endophenotypes ► Future studies should examine cognitive, imaging, and genetic data in studying language deficits.
    Keywords: Dyslexia ; Dcdc2 ; Ttrap ; Imaging-Genetics ; Neuroimaging ; Medicine
    ISSN: 1053-8119
    E-ISSN: 1095-9572
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  • 5
    Language: English
    In: Pediatrics, February 2009, Vol.123(2), pp.669-73
    Description: The most common congenital heart disease in the newborn population, patent ductus arteriosus, accounts for significant morbidity in preterm newborns. In addition to prematurity and environmental factors, we hypothesized that genetic factors play a significant role in this condition. The objective of this study was to quantify the contribution of genetic factors to the variance in liability for patent ductus arteriosus in premature newborns. A retrospective study (1991-2006) from 2 centers was performed by using zygosity data from premature twins born at 〈 or =36 weeks' gestational age and surviving beyond 36 weeks' postmenstrual age. Patent ductus arteriosus was diagnosed by echocardiography at each center. Mixed-effects logistic regression was used to assess the effect of specific covariates. Latent variable probit modeling was then performed to estimate the heritability of patent ductus arteriosus, and mixed-effects probit modeling was used to quantify the genetic component. We obtained data from 333 dizygotic twin pairs and 99 monozygotic twin pairs from 2 centers (Yale University and University of Connecticut). Data on chorioamnionitis, antenatal steroids, gestational age, body weight, gender, respiratory distress syndrome, patent ductus arteriosus, necrotizing enterocolitis, oxygen supplementation, and bronchopulmonary dysplasia were comparable between monozygotic and dizygotic twins. We found that gestational age, respiratory distress syndrome, and institution were significant covariates for patent ductus arteriosus. After controlling for specific covariates, genetic factors or the shared environment accounted for 76.1% of the variance in liability for patent ductus arteriosus. Preterm patent ductus arteriosus is highly familial (contributed to by genetic and environmental factors), with the effect being mainly environmental, after controlling for known confounders.
    Keywords: Infant, Premature ; Ductus Arteriosus, Patent -- Genetics
    ISSN: 00314005
    E-ISSN: 1098-4275
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  • 6
    Language: English
    In: Journal of Learning Disabilities, July 2017, Vol.50(4), pp.422-433
    Description: Competent reading requires various skills beyond those for basic word reading (i.e., core language skills, rapid naming, phonological processing). Contributing “higher-level” or domain-general processes include information processing speed and executive functions (working memory, strategic problem solving, attentional switching). Research in this area has relied on largely Caucasian samples, with limited representation of children from racial or ethnic minority groups. This study examined contributions of executive skills to reading competence in 761 children of minority backgrounds. Hierarchical linear regressions examined unique contributions of executive functions (EF) to word reading, fluency, and comprehension. EF contributed uniquely to reading performance, over and above reading-related language skills; working memory contributed uniquely to all components of reading; while attentional switching, but not problem solving, contributed to isolated and contextual word reading and reading fluency. Problem solving uniquely predicted comprehension, suggesting that this skill may be especially important for reading comprehension in minority youth. Attentional switching may play a unique role in development of reading fluency in minority youth, perhaps as a result of the increased demand for switching between spoken versus written dialects. Findings have implications for educational and clinical practice with regard to reading instruction, remedial reading intervention, and assessment of individuals with reading difficulty.
    Keywords: Dyslexia ; Attention ; Processing Speed ; Working Memory ; Fluency ; Comprehension ; Medicine ; Education ; Psychology
    ISSN: 0022-2194
    E-ISSN: 1538-4780
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  • 7
    In: Autism Research, April 2015, Vol.8(2), pp.229-234
    Description: Language and communication development is a complex process influenced by numerous environmental and genetic factors. Many neurodevelopment disorders include deficits in language and communication skills in their diagnostic criteria, including autism spectrum disorders (), language impairment (), and dyslexia. These disorders are polygenic and complex with a significant genetic component contributing to each. The similarity of language phenotypes and comorbidity of these disorders suggest that they may share genetic contributors. To test this, we examined the association of genes previously implicated in dyslexia, , and/or language‐related traits with language skills in children with . We used genetic and language data collected in the utism enome esearch xchange () and imons implex ollection () cohorts to perform a meta‐analysis on performance on a receptive vocabulary task. There were associations with risk gene and dyslexia risk gene . Additionally, we found suggestive evidence of association with , , , the 2 locus (, , and ), and . Our results show that and dyslexia genes also contribute to language traits in children with . These associations add to the growing literature of generalist genes that contribute to multiple related neurobehavioral traits. Future studies should examine whether other genetic contributors may be shared among these disorders and how risk variants interact with each other and the environment to modify clinical presentations. . © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
    Keywords: Language ; Autism Spectrum Disorders ; Atp2c2 ; Mrpl19 ; Dyslexia ; Language Impairment
    ISSN: 1939-3792
    E-ISSN: 1939-3806
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  • 8
    In: Genetic Epidemiology, January 2017, Vol.41(1), pp.4-17
    Description: Specific learning disorders (SLD) are an archetypal example of how clinical neuropsychological (NP) traits can differ from underlying genetic and neurobiological risk factors. Disparate environmental influences and pathologies impact learning performance assessed through cognitive examinations and clinical evaluations, the primary diagnostic tools for SLD. We propose a neurobiological risk for SLD with neuroimaging biomarkers, which is integrated into a genome‐wide association study (GWAS) of learning performance in a cohort of 479 European individuals between 8 and 21 years of age. We first identified six regions of interest (ROIs) in temporal and anterior cingulate regions where the group diagnosed with learning disability has the least overall variation, relative to the other group, in thickness, area, and volume measurements. Although we used the three imaging measures, the thickness was the leading contributor. Hence, we calculated the Euclidean distances between any two individuals based on their thickness measures in the six ROIs. Then, we defined the relative similarity of one individual according to the averaged ranking of pairwise distances from the individuals to those in the SLD group. The inverse of this relative similarity is called the neurobiological risk for the individual. Single nucleotide polymorphisms in the gene on chromosome 15 had a significant association with learning performance at a genome‐wide level. This finding was supported in an independent cohort of 2,327 individuals of the same demographic profile. Our statistical approach for integrating genetic and neuroimaging biomarkers can be extended into studying the biological basis of other NP traits.
    Keywords: Biological Sciences ; Diseases ; Genetics ; Health Sciences ; Neurological Disorders ; Neurodevelopmental Disorders ; Neurodevelopmental Disorders
    ISSN: 0741-0395
    E-ISSN: 1098-2272
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  • 9
    Language: English
    In: Brain Imaging and Behavior, 2013, Vol.7(1), pp.15-27
    Description: Individuals with schizophrenia show a broad range of language impairments, similar to those observed in reading disability (RD). Genetic linkage and association studies of RD have identified a number of candidate RD-genes that are associated with neuronal migration. Some individuals with schizophrenia also show evidence of impaired cortical neuronal migration. We have previously linked RD-related genes with gray matter distributions in healthy controls and schizophrenia. The aim of the current study was to extend these structural findings and to examine links between putative RD-genes and functional connectivity of language-related regions in healthy controls ( n  = 27) and schizophrenia ( n  = 28). Parallel independent component analysis (parallel-ICA) was used to examine the relationship between language-related regions extracted from resting-state fMRI and 16 single nucleotide polymorphisms (SNPs) spanning 5 RD-related genes. Parallel-ICA identified four significant fMRI-SNP relationships. A Left Broca-Superior/Inferior Parietal network was related to two KIAA0319 SNPs in controls but not in schizophrenia. For both diagnostic groups, a Broca-Medial Parietal network was related to two DCDC2 SNPs, while a Left Wernicke-Fronto-Occipital network was related to two KIAA0319 SNPs. A Bilateral Wernicke-Fronto-Parietal network was related to one KIAA0319 SNP only in controls. Thus, RD-genes influence functional connectivity in language-related regions, but no RD-gene uniquely affected network function in schizophrenia as compared to controls. This is in contrast with our previous study where RD-genes affected gray matter distribution in some structural networks in schizophrenia but not in controls. Thus these RD-genes may exert a more important influence on structure rather than function of language-related networks in schizophrenia.
    Keywords: Independent component analysis ; Resting state fMRI ; Reading ; Language ; Dyslexia genes
    ISSN: 1931-7557
    E-ISSN: 1931-7565
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  • 10
    Language: English
    In: Neuropsychology, 2014, Vol.28(1), pp.1-10
    Description: Objective: The NIH Toolbox Cognition Battery (NTCB) was designed to provide a brief, efficient computerized test of key neuropsychological functions appropriate for use in children as young as 3 years of age. This report describes the performance of a large group of typically developing children and adolescents and examines the impact of age and sociocultural variables on test performance. Method: The NTCB was administered to a sample of 1,020 typically developing males and females ranging in age from 3 to 20 years, diverse in terms of socioeconomic status (SES) and race/ethnicity, as part of the new publicly accessible Pediatric Imaging, Neurocognition, and Genetics (PING) data resource, at 9 sites across the United States. Results: General additive models of nonlinear age-functions were estimated from age-differences in test performance on the 8 NTCB subtests while controlling for family SES and genetic ancestry factors (GAFs). Age accounted for the majority of the variance across all NTCB scores, with additional significant contributions of gender on some measures, and of SES and race/ethnicity (GAFs) on all. After adjusting for age and gender, SES and GAFs explained a substantial proportion of the remaining unexplained variance in Picture Vocabulary scores. Conclusions: The results highlight the sensitivity to developmental effects and efficiency of this new computerized assessment battery for neurodevelopmental research. Limitations are observed in the form of some ceiling effects in older children, some floor effects, particularly on executive function tests in the youngest participants, and evidence for variable measurement sensitivity to cultural/socioeconomic factors.
    Keywords: Computerized Assessment ; Cognitive Development ; Socioeconomic Status
    ISSN: 0894-4105
    E-ISSN: 1931-1559
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