Anxiety disorders in children with williams syndrome, their mothers, and their siblings: implications for the etiology of anxiety disorders / Ovsanna LEYFER in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.4-14 Titre : Anxiety disorders in children with williams syndrome, their mothers, and their siblings: implications for the etiology of anxiety disorders Type de document : texte imprimé Auteurs : Ovsanna LEYFER, Auteur ; Janet WOODRUFF-BORDEN, Auteur ; Carolyn B. MERVIS, Auteur Article en page(s) : p.4-14 Langues : Anglais (eng) Mots-clés : Anxiety  Family  Genetics  Intellectual disability  Mental retardation  Williams syndrome Index. décimale : PER Périodiques Résumé : PURPOSE: To determine the prevalence of anxiety disorders in children with Williams syndrome (WS), their sibling closest in age, and their mothers and to examine the predictors of anxiety in these groups. METHODS: The prevalence of anxiety disorders was assessed and compared to that in the general population. RESULTS: Children with WS had a significantly higher prevalence of specific phobia, generalized anxiety disorder (GAD), and separation anxiety in comparison to children in the general population. While mothers had a higher prevalence of GAD than population controls, the excess was accounted for by mothers who had onset after the birth of their WS child. The siblings had rates similar to the general population. CONCLUSIONS: This pattern of findings suggests the presence of a gene in the WS region whose deletion predisposes to anxiety disorders. It is also worthwhile to investigate relations between genes deleted in WS and genes previously implicated in anxiety disorders. En ligne : http://dx.doi.org/10.1007/s11689-009-9003-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 [article] Anxiety disorders in children with williams syndrome, their mothers, and their siblings: implications for the etiology of anxiety disorders [texte imprimé] / Ovsanna LEYFER, Auteur ; Janet WOODRUFF-BORDEN, Auteur ; Carolyn B. MERVIS, Auteur . - p.4-14. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.4-14 Mots-clés : Anxiety  Family  Genetics  Intellectual disability  Mental retardation  Williams syndrome Index. décimale : PER Périodiques Résumé : PURPOSE: To determine the prevalence of anxiety disorders in children with Williams syndrome (WS), their sibling closest in age, and their mothers and to examine the predictors of anxiety in these groups. METHODS: The prevalence of anxiety disorders was assessed and compared to that in the general population. RESULTS: Children with WS had a significantly higher prevalence of specific phobia, generalized anxiety disorder (GAD), and separation anxiety in comparison to children in the general population. While mothers had a higher prevalence of GAD than population controls, the excess was accounted for by mothers who had onset after the birth of their WS child. The siblings had rates similar to the general population. CONCLUSIONS: This pattern of findings suggests the presence of a gene in the WS region whose deletion predisposes to anxiety disorders. It is also worthwhile to investigate relations between genes deleted in WS and genes previously implicated in anxiety disorders. En ligne : http://dx.doi.org/10.1007/s11689-009-9003-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341

Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome / Bonita P. KLEIN-TASMAN in Journal of Autism and Developmental Disorders, 48-6 (June 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-6 (June 2018) . - p.1982-1994 Titre : Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome Type de document : texte imprimé Auteurs : Bonita P. KLEIN-TASMAN, Auteur ; Carolyn B. MERVIS, Auteur Article en page(s) : p.1982-1994 Langues : Anglais (eng) Mots-clés : 7q11.23 duplication syndrome  Autism spectrum disorders  Selective mutism  Social anxiety Index. décimale : PER Périodiques Résumé : Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed. En ligne : http://dx.doi.org/10.1007/s10803-017-3439-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=361 [article] Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome [texte imprimé] / Bonita P. KLEIN-TASMAN, Auteur ; Carolyn B. MERVIS, Auteur . - p.1982-1994. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-6 (June 2018) . - p.1982-1994 Mots-clés : 7q11.23 duplication syndrome  Autism spectrum disorders  Selective mutism  Social anxiety Index. décimale : PER Périodiques Résumé : Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed. En ligne : http://dx.doi.org/10.1007/s10803-017-3439-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=361

Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language / Bonita P. KLEIN-TASMAN in Journal of Autism and Developmental Disorders, 48-9 (September 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-9 (September 2018) . - p.3037-3050 Titre : Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language Type de document : texte imprimé Auteurs : Bonita P. KLEIN-TASMAN, Auteur ; Faye VAN DER FLUIT, Auteur ; Carolyn B. MERVIS, Auteur Article en page(s) : p.3037-3050 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Intellectual disability  Social communication  Williams syndrome Index. décimale : PER Périodiques Résumé : To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS. En ligne : http://dx.doi.org/10.1007/s10803-018-3555-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 [article] Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language [texte imprimé] / Bonita P. KLEIN-TASMAN, Auteur ; Faye VAN DER FLUIT, Auteur ; Carolyn B. MERVIS, Auteur . - p.3037-3050. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-9 (September 2018) . - p.3037-3050 Mots-clés : Autism spectrum disorders  Intellectual disability  Social communication  Williams syndrome Index. décimale : PER Périodiques Résumé : To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS. En ligne : http://dx.doi.org/10.1007/s10803-018-3555-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome / J. Shane KIPPENHAN in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome Type de document : texte imprimé Auteurs : J. Shane KIPPENHAN, Auteur ; Michael D. GREGORY, Auteur ; Tiffany NASH, Auteur ; Philip KOHN, Auteur ; Carolyn B. MERVIS, Auteur ; Daniel P. EISENBERG, Auteur ; Madeline H. GARVEY, Auteur ; Katherine ROE, Auteur ; Colleen A. MORRIS, Auteur ; Bhaskar KOLACHANA, Auteur ; Ariel M. PANI, Auteur ; Leah SORCHER, Auteur ; Karen F. BERMAN, Auteur Langues : Anglais (eng) Mots-clés : Child, Preschool  Adult  Humans  Child  Haplotypes  Williams Syndrome/complications/genetics  Cerebral Cortex  Cognition  Gray Matter  Lim Kinases/genetics  Dorsal stream  Hemideletion  Intraparietal sulcus  Limk1  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. Clinically, WS is typified by increased social drive (often termed "hypersociability") and severe visuospatial construction deficits. Previous studies have linked visuospatial problems in WS with alterations in the dorsal visual processing stream. We investigated the impacts of hemideletion and haplotype variation of LIMK1, a gene hemideleted in WS and linked to neuronal maturation and migration, on the structure and function of the dorsal stream, specifically the intraparietal sulcus (IPS), a region known to be altered in adults with WS. METHODS: We tested for IPS structural and functional changes using longitudinal MRI in a developing cohort of children with WS (76 visits from 33 participants, compared to 280 visits from 94 typically developing age- and sex-matched participants) over the age range of 5-22. We also performed MRI studies of 12 individuals with rare, shorter hemideletions at 7q11.23, all of which included LIMK1. Finally, we tested for effects of LIMK1 variation on IPS structure and imputed LIMK1 expression in two independent cohorts of healthy individuals from the general population. RESULTS: IPS structural (p < 10(-4) FDR corrected) and functional (p < .05 FDR corrected) anomalies previously reported in adults were confirmed in children with WS, and, consistent with an enduring genetic mechanism, were stable from early childhood into adulthood. In the short hemideletion cohort, IPS deficits similar to those in WS were found, although effect sizes were smaller than those found in WS for both structural and functional findings. Finally, in each of the two general population cohorts stratified by LIMK1 haplotype, IPS gray matter volume (p(discovery) < 0.05 SVC, p(replication) = 0.0015) and imputed LIMK1 expression (p(discovery) = 10(-15), p(replication) = 10(-23)) varied according to LIMK1 haplotype. CONCLUSIONS: This work offers insight into neurobiological and genetic mechanisms responsible for the WS phenotype and also more generally provides a striking example of the mechanisms by which genetic variation, acting by means of molecular effects on a neural intermediary, can influence human cognition and, in some cases, lead to neurocognitive disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09493-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome [texte imprimé] / J. Shane KIPPENHAN, Auteur ; Michael D. GREGORY, Auteur ; Tiffany NASH, Auteur ; Philip KOHN, Auteur ; Carolyn B. MERVIS, Auteur ; Daniel P. EISENBERG, Auteur ; Madeline H. GARVEY, Auteur ; Katherine ROE, Auteur ; Colleen A. MORRIS, Auteur ; Bhaskar KOLACHANA, Auteur ; Ariel M. PANI, Auteur ; Leah SORCHER, Auteur ; Karen F. BERMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Child, Preschool  Adult  Humans  Child  Haplotypes  Williams Syndrome/complications/genetics  Cerebral Cortex  Cognition  Gray Matter  Lim Kinases/genetics  Dorsal stream  Hemideletion  Intraparietal sulcus  Limk1  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. Clinically, WS is typified by increased social drive (often termed "hypersociability") and severe visuospatial construction deficits. Previous studies have linked visuospatial problems in WS with alterations in the dorsal visual processing stream. We investigated the impacts of hemideletion and haplotype variation of LIMK1, a gene hemideleted in WS and linked to neuronal maturation and migration, on the structure and function of the dorsal stream, specifically the intraparietal sulcus (IPS), a region known to be altered in adults with WS. METHODS: We tested for IPS structural and functional changes using longitudinal MRI in a developing cohort of children with WS (76 visits from 33 participants, compared to 280 visits from 94 typically developing age- and sex-matched participants) over the age range of 5-22. We also performed MRI studies of 12 individuals with rare, shorter hemideletions at 7q11.23, all of which included LIMK1. Finally, we tested for effects of LIMK1 variation on IPS structure and imputed LIMK1 expression in two independent cohorts of healthy individuals from the general population. RESULTS: IPS structural (p < 10(-4) FDR corrected) and functional (p < .05 FDR corrected) anomalies previously reported in adults were confirmed in children with WS, and, consistent with an enduring genetic mechanism, were stable from early childhood into adulthood. In the short hemideletion cohort, IPS deficits similar to those in WS were found, although effect sizes were smaller than those found in WS for both structural and functional findings. Finally, in each of the two general population cohorts stratified by LIMK1 haplotype, IPS gray matter volume (p(discovery) < 0.05 SVC, p(replication) = 0.0015) and imputed LIMK1 expression (p(discovery) = 10(-15), p(replication) = 10(-23)) varied according to LIMK1 haplotype. CONCLUSIONS: This work offers insight into neurobiological and genetic mechanisms responsible for the WS phenotype and also more generally provides a striking example of the mechanisms by which genetic variation, acting by means of molecular effects on a neural intermediary, can influence human cognition and, in some cases, lead to neurocognitive disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09493-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Factor Structure of the Children’s Behavior Questionnaire in Children with Williams Syndrome / Ovsanna T. LEYFER in Journal of Autism and Developmental Disorders, 42-11 (November 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-11 (November 2012) . - p.2346-2353 Titre : Factor Structure of the Children’s Behavior Questionnaire in Children with Williams Syndrome Type de document : texte imprimé Auteurs : Ovsanna T. LEYFER, Auteur ; Angela JOHN, Auteur ; Janet WOODRUFF-BORDEN, Auteur ; Carolyn B. MERVIS, Auteur Article en page(s) : p.2346-2353 Langues : Anglais (eng) Mots-clés : Temperament  Williams syndrome  Developmental disorders  Psychopathology  Intellectual disability Index. décimale : PER Périodiques Résumé : To examine the factor structure of temperament in 5–10-year-olds with Williams syndrome, an exploratory factor analysis was conducted on the responses of parents of 192 children on the children’s behavior questionnaire. Four factors were identified. Two corresponded to factors reported for typically developing children: effortful control and extraversion/surgency and two corresponded to the temperament constructs of withdrawal/inhibition and irritability/frustration and activity, observed in typically developing infants. Parents of 109 of the 192 participants also completed the anxiety disorders interview schedule, parent version. Children with an anxiety disorder other than specific phobia differed significantly from children without an anxiety disorder on all factors except extraversion/surgency. Children with attention deficit hyperactivity disorder (ADHD) differed significantly from children without ADHD on effortful control and extraversion/surgency. En ligne : http://dx.doi.org/10.1007/s10803-012-1482-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183 [article] Factor Structure of the Children’s Behavior Questionnaire in Children with Williams Syndrome [texte imprimé] / Ovsanna T. LEYFER, Auteur ; Angela JOHN, Auteur ; Janet WOODRUFF-BORDEN, Auteur ; Carolyn B. MERVIS, Auteur . - p.2346-2353. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-11 (November 2012) . - p.2346-2353 Mots-clés : Temperament  Williams syndrome  Developmental disorders  Psychopathology  Intellectual disability Index. décimale : PER Périodiques Résumé : To examine the factor structure of temperament in 5–10-year-olds with Williams syndrome, an exploratory factor analysis was conducted on the responses of parents of 192 children on the children’s behavior questionnaire. Four factors were identified. Two corresponded to factors reported for typically developing children: effortful control and extraversion/surgency and two corresponded to the temperament constructs of withdrawal/inhibition and irritability/frustration and activity, observed in typically developing infants. Parents of 109 of the 192 participants also completed the anxiety disorders interview schedule, parent version. Children with an anxiety disorder other than specific phobia differed significantly from children without an anxiety disorder on all factors except extraversion/surgency. Children with attention deficit hyperactivity disorder (ADHD) differed significantly from children without ADHD on effortful control and extraversion/surgency. En ligne : http://dx.doi.org/10.1007/s10803-012-1482-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183

Patterns and predictors of adaptive skills in 2- to 7-year-old children with Down syndrome / Emily K. SCHWORER in Journal of Neurodevelopmental Disorders, 14 (2022)  

Permalink

Sleep characteristics and problems of 2-year-olds with Williams syndrome: relations with language and behavior / Caroline GREINER DE MAGALHÃES in Journal of Neurodevelopmental Disorders, 12 (2020)  

Permalink

The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome / Angela J. THURMAN in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Permalink

Toddlers with Williams Syndrome Process Upright but not Inverted Faces Holistically / Cara H. CASHON in Journal of Autism and Developmental Disorders, 43-11 (November 2013)  

Permalink

---

1 (1 - 9 / 9) Par page : 25 50 100 200