Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders / Patrick MALENFANT in Journal of Autism and Developmental Disorders, 42-7 (July 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469 Titre : Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2012 Article en page(s) : p.1459-1469 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorders (ASDs)  Gene association  GTF2i gene  7q11.23 duplication  Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166 [article] Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2012 . - p.1459-1469. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469 Mots-clés : Autism Spectrum Disorders (ASDs)  Gene association  GTF2i gene  7q11.23 duplication  Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166

Behavioral Development and Sociodemographics of Infants and Young Children at Higher and Lower Risk for Autism Spectrum Disorders / Maurice A. FELDMAN in Journal of Autism and Developmental Disorders, 45-5 (May 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1167-1175 Titre : Behavioral Development and Sociodemographics of Infants and Young Children at Higher and Lower Risk for Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Maurice A. FELDMAN, Auteur ; Amanda M. HENDRY, Auteur ; Rebecca A. WARD, Auteur ; Melissa HUDSON, Auteur ; Xudong LIU, Auteur Article en page(s) : p.1167-1175 Langues : Anglais (eng) Mots-clés : Early identification  At-risk infants  Infant siblings Index. décimale : PER Périodiques Résumé : Identification of early signs of Autism Spectrum Disorder (ASD) could lead to earlier diagnosis and intervention. This cross-sectional study used the Parent Observation of Early Markers Scale (POEMS, Feldman et al. in J Autism Dev Disord 42:13–12, 2012) to identify early signs of ASD in 69 ASD high-risk (older sibling diagnosed with ASD) and 69 sex and aged-matched ASD low-risk second-born or later infants (no family history of ASD) between 6 and 36 months of age. Family sociodemographic comparisons were also made between the risk groups. The high-risk children had significantly more elevated POEMS items than the low-risk children at 12, 18, 24, 30 and 36 months of age, even when the children subsequently diagnosed with ASD were removed from the analyses. Families of the high-risk group had older parents, lower family income and fewer mothers working out of the home than the low-risk group. These sociodemographic variables were not significantly correlated with POEMS scores. The results suggest that high-risk infants may show signs of the broader ASD phenotype as early as 12 months of age that may be unrelated to observed sociodemographic family differences. En ligne : http://dx.doi.org/10.1007/s10803-014-2277-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259 [article] Behavioral Development and Sociodemographics of Infants and Young Children at Higher and Lower Risk for Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Maurice A. FELDMAN, Auteur ; Amanda M. HENDRY, Auteur ; Rebecca A. WARD, Auteur ; Melissa HUDSON, Auteur ; Xudong LIU, Auteur . - p.1167-1175. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1167-1175 Mots-clés : Early identification  At-risk infants  Infant siblings Index. décimale : PER Périodiques Résumé : Identification of early signs of Autism Spectrum Disorder (ASD) could lead to earlier diagnosis and intervention. This cross-sectional study used the Parent Observation of Early Markers Scale (POEMS, Feldman et al. in J Autism Dev Disord 42:13–12, 2012) to identify early signs of ASD in 69 ASD high-risk (older sibling diagnosed with ASD) and 69 sex and aged-matched ASD low-risk second-born or later infants (no family history of ASD) between 6 and 36 months of age. Family sociodemographic comparisons were also made between the risk groups. The high-risk children had significantly more elevated POEMS items than the low-risk children at 12, 18, 24, 30 and 36 months of age, even when the children subsequently diagnosed with ASD were removed from the analyses. Families of the high-risk group had older parents, lower family income and fewer mothers working out of the home than the low-risk group. These sociodemographic variables were not significantly correlated with POEMS scores. The results suggest that high-risk infants may show signs of the broader ASD phenotype as early as 12 months of age that may be unrelated to observed sociodemographic family differences. En ligne : http://dx.doi.org/10.1007/s10803-014-2277-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259

Development and Initial Validation of a Parent Report Measure of the Behavioral Development of Infants at Risk for Autism Spectrum Disorders / Maurice FELDMAN in Journal of Autism and Developmental Disorders, 42-1 (January 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-1 (January 2012) . - p.13-22 Titre : Development and Initial Validation of a Parent Report Measure of the Behavioral Development of Infants at Risk for Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Maurice FELDMAN, Auteur ; Rebecca A. WARD, Auteur ; Danielle SAVONA, Auteur ; Kaleigh REGEHR, Auteur ; Kevin PARKER, Auteur ; Melissa HUDSON, Auteur ; Henderika PENNING, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2012 Article en page(s) : p.13-22 Langues : Anglais (eng) Mots-clés : Early identification  At-risk infants Index. décimale : PER Périodiques Résumé : We developed and evaluated a new parent report instrument—Parent Observation of Early Markers Scale (POEMS)—to monitor the behavioral development of infants at risk for autism spectrum disorder (ASD) because they have older affected siblings. Parents of 108 at-risk infants (74 males, 34 females) completed the POEMS from child age 1–24 months. The POEMS had acceptable psychometric properties and promising predictive validity. Most concerning items were social and communication deficits, and intolerance to waiting. Results provide preliminary evidence that prospective parent report measures can help to detect early ASD symptoms in infants at biological risk. We invite researchers to join us in multi-center studies of the POEMS. En ligne : http://dx.doi.org/10.1007/s10803-011-1208-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151 [article] Development and Initial Validation of a Parent Report Measure of the Behavioral Development of Infants at Risk for Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Maurice FELDMAN, Auteur ; Rebecca A. WARD, Auteur ; Danielle SAVONA, Auteur ; Kaleigh REGEHR, Auteur ; Kevin PARKER, Auteur ; Melissa HUDSON, Auteur ; Henderika PENNING, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2012 . - p.13-22. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-1 (January 2012) . - p.13-22 Mots-clés : Early identification  At-risk infants Index. décimale : PER Périodiques Résumé : We developed and evaluated a new parent report instrument—Parent Observation of Early Markers Scale (POEMS)—to monitor the behavioral development of infants at risk for autism spectrum disorder (ASD) because they have older affected siblings. Parents of 108 at-risk infants (74 males, 34 females) completed the POEMS from child age 1–24 months. The POEMS had acceptable psychometric properties and promising predictive validity. Most concerning items were social and communication deficits, and intolerance to waiting. Results provide preliminary evidence that prospective parent report measures can help to detect early ASD symptoms in infants at biological risk. We invite researchers to join us in multi-center studies of the POEMS. En ligne : http://dx.doi.org/10.1007/s10803-011-1208-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151

Maternal serotonin transporter genotype affects risk for ASD with exposure to prenatal stress / Patrick M. HECHT in Autism Research, 9-11 (November 2016)  

Public ISBD [article]  inAutism Research > 9-11 (November 2016) . - p.1151-1160 Titre : Maternal serotonin transporter genotype affects risk for ASD with exposure to prenatal stress Type de document : Texte imprimé et/ou numérique Auteurs : Patrick M. HECHT, Auteur ; Melissa HUDSON, Auteur ; Susan L. CONNORS, Auteur ; Michael R. TILLEY, Auteur ; Xudong LIU, Auteur ; David Q. BEVERSDORF, Auteur Article en page(s) : p.1151-1160 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  serotonin  stress  prenatal stress  development  environmental influences Index. décimale : PER Périodiques Résumé : Stress exposure during gestation is implicated in several neuropsychiatric conditions, including autism spectrum disorder (ASD). Previous research showed that prenatal stress increases risk for ASD with peak exposure during the end of the second and the beginning of the third trimester. However, exposures to prenatal stress do not always result in ASD, suggesting that other factors may interact with environmental stressors to increase ASD risk. The present study examined a maternal genetic variation in the promoter region of the serotonin transporter gene (5-HTTLPR) affecting stress tolerance and its interaction with the effect of environmental stressors on risk for ASD. Two independent cohorts of mothers of ASD children recruited by the University of Missouri and Queen's University were surveyed regarding the prenatal environment and genotyping on 5-HTTLPR was performed to explore this relationship. In both samples, mothers of children with ASD carrying the stress susceptible short allele variant of 5-HTTLPR experienced a greater number of stressors and greater stress severity when compared to mothers carrying the long allele variant. The temporal peak of stressors during gestation in these mothers was consistent with previous findings. Additionally, increased exposure to prenatal stress was not reported in the pregnancies of typically developing siblings from the same mothers, regardless of maternal genotype, suggesting against the possibility that the short allele might increase the recall of stress during pregnancy. The present study provides further evidence of a specific maternal polymorphism that may affect the risk for ASD with exposure to prenatal stress. En ligne : http://dx.doi.org/10.1002/aur.1629 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=297 [article] Maternal serotonin transporter genotype affects risk for ASD with exposure to prenatal stress [Texte imprimé et/ou numérique] / Patrick M. HECHT, Auteur ; Melissa HUDSON, Auteur ; Susan L. CONNORS, Auteur ; Michael R. TILLEY, Auteur ; Xudong LIU, Auteur ; David Q. BEVERSDORF, Auteur . - p.1151-1160. Langues : Anglais (eng) in Autism Research > 9-11 (November 2016) . - p.1151-1160 Mots-clés : autism spectrum disorders  serotonin  stress  prenatal stress  development  environmental influences Index. décimale : PER Périodiques Résumé : Stress exposure during gestation is implicated in several neuropsychiatric conditions, including autism spectrum disorder (ASD). Previous research showed that prenatal stress increases risk for ASD with peak exposure during the end of the second and the beginning of the third trimester. However, exposures to prenatal stress do not always result in ASD, suggesting that other factors may interact with environmental stressors to increase ASD risk. The present study examined a maternal genetic variation in the promoter region of the serotonin transporter gene (5-HTTLPR) affecting stress tolerance and its interaction with the effect of environmental stressors on risk for ASD. Two independent cohorts of mothers of ASD children recruited by the University of Missouri and Queen's University were surveyed regarding the prenatal environment and genotyping on 5-HTTLPR was performed to explore this relationship. In both samples, mothers of children with ASD carrying the stress susceptible short allele variant of 5-HTTLPR experienced a greater number of stressors and greater stress severity when compared to mothers carrying the long allele variant. The temporal peak of stressors during gestation in these mothers was consistent with previous findings. Additionally, increased exposure to prenatal stress was not reported in the pregnancies of typically developing siblings from the same mothers, regardless of maternal genotype, suggesting against the possibility that the short allele might increase the recall of stress during pregnancy. The present study provides further evidence of a specific maternal polymorphism that may affect the risk for ASD with exposure to prenatal stress. En ligne : http://dx.doi.org/10.1002/aur.1629 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=297

Relationship of family history conditions and early signs of autism spectrum disorder in low and high-risk infants / Maurice A. FELDMAN in Research in Autism Spectrum Disorders, 65 (September 2019)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 65 (September 2019) . - p.25-33 Titre : Relationship of family history conditions and early signs of autism spectrum disorder in low and high-risk infants Type de document : Texte imprimé et/ou numérique Auteurs : Maurice A. FELDMAN, Auteur ; Alicia AZZANO, Auteur ; Rebecca A. WARD, Auteur ; Melissa HUDSON, Auteur ; Calvin P. SJAARDA, Auteur ; Xudong LIU, Auteur Article en page(s) : p.25-33 Langues : Anglais (eng) Mots-clés : Infants  Siblings  Family history  Prediction  Early screening Index. décimale : PER Périodiques Résumé : Background Early identification and understanding of Autism Spectrum Disorder (ASD) could be facilitated by knowledge of family history of medical, developmental and psychiatric conditions associated with showing early signs of ASD. Method The current study used nonparametric analysis of covariance to compare the number of family history conditions n 69 high-risk (biological sibling with ASD) and 108 low-risk (no family history of ASD) infants. Spearman correlation was used to assess the relationship between family history of various conditions and early ASD signs as measured by an early screener, the Parent Observation of Early Markers Scale (POEMS). Results There were significantly more family history conditions in the families of the high-risk infants, and significant positive relationships between the number of family history problems and early markers of ASD in both groups. Conclusions The results suggest that family history conditions may play an important role in screening infants not yet diagnosed with ASD and reveal etiological pathways. En ligne : https://doi.org/10.1016/j.rasd.2019.05.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=401 [article] Relationship of family history conditions and early signs of autism spectrum disorder in low and high-risk infants [Texte imprimé et/ou numérique] / Maurice A. FELDMAN, Auteur ; Alicia AZZANO, Auteur ; Rebecca A. WARD, Auteur ; Melissa HUDSON, Auteur ; Calvin P. SJAARDA, Auteur ; Xudong LIU, Auteur . - p.25-33. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 65 (September 2019) . - p.25-33 Mots-clés : Infants  Siblings  Family history  Prediction  Early screening Index. décimale : PER Périodiques Résumé : Background Early identification and understanding of Autism Spectrum Disorder (ASD) could be facilitated by knowledge of family history of medical, developmental and psychiatric conditions associated with showing early signs of ASD. Method The current study used nonparametric analysis of covariance to compare the number of family history conditions n 69 high-risk (biological sibling with ASD) and 108 low-risk (no family history of ASD) infants. Spearman correlation was used to assess the relationship between family history of various conditions and early ASD signs as measured by an early screener, the Parent Observation of Early Markers Scale (POEMS). Results There were significantly more family history conditions in the families of the high-risk infants, and significant positive relationships between the number of family history problems and early markers of ASD in both groups. Conclusions The results suggest that family history conditions may play an important role in screening infants not yet diagnosed with ASD and reveal etiological pathways. En ligne : https://doi.org/10.1016/j.rasd.2019.05.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=401

Using Read-Alouds of Grade-Level Biographies and Systematic Prompting to Promote Comprehension for Students With Moderate and Severe Developmental Disabilities / Pamela J. MIMS in Focus on Autism and Other Developmental Disabilities, 27-2 (June 2012)  

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Using the PDD Behavior Inventory as a Level 2 Screener: A Classification and Regression Trees Analysis / Ira L. COHEN in Journal of Autism and Developmental Disorders, 46-9 (September 2016)  

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