ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males / Leonard ABBEDUTO in Journal of Autism and Developmental Disorders, 49-3 (March 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977 Titre : ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males Type de document : Texte imprimé et/ou numérique Auteurs : Leonard ABBEDUTO, Auteur ; A. J. THURMAN, Auteur ; A. MCDUFFIE, Auteur ; J. KLUSEK, Auteur ; R. T. FEIGLES, Auteur ; W. Ted BROWN, Auteur ; D. J. HARVEY, Auteur ; T. ADAYEV, Auteur ; G. LAFAUCI, Auteur ; C. DOBKINS, Auteur ; J. E. ROBERTS, Auteur Article en page(s) : p.960-977 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fmrp  Fragile X syndrome  Iq  Language  Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males [Texte imprimé et/ou numérique] / Leonard ABBEDUTO, Auteur ; A. J. THURMAN, Auteur ; A. MCDUFFIE, Auteur ; J. KLUSEK, Auteur ; R. T. FEIGLES, Auteur ; W. Ted BROWN, Auteur ; D. J. HARVEY, Auteur ; T. ADAYEV, Auteur ; G. LAFAUCI, Auteur ; C. DOBKINS, Auteur ; J. E. ROBERTS, Auteur . - p.960-977. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977 Mots-clés : Autism spectrum disorder  Fmrp  Fragile X syndrome  Iq  Language  Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications / Jerzy WEGIEL

Public ISBD in The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM Titre : Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications Type de document : Texte imprimé et/ou numérique Auteurs : Jerzy WEGIEL, Auteur ; N. Carolyn SCHANEN, Auteur ; Edwin H. Jr COOK, Auteur ; W. Ted BROWN, Auteur ; Izabela KUCHNA, Auteur ; Krzysztof NOWICKI, Auteur ; Jarek WEGIEL, Auteur ; Humi IMAKI, Auteur ; Shuang Yong MA, Auteur ; Eric LONDON, Auteur ; Thomas WISNIEWSKI, Auteur Année de publication : 2013 Importance : p.347-359 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Postmortem studies of brains of individuals with idiopathic autism and 15q11.2–q13 duplications autism (dup(15)) identify a cluster of neuropathological features differentiating these cohorts. They show a need for both reclassification of autism according to etiology, clinical presentation and neuropathology, and a commonality of clinical and neuropathological traits justifying autism diagnosis. The features differentiating these cohorts include: (a) maternal origin in patients with dup(15); (b) autism in 78% of subjects; (c) more severe clinical phenotypes, with intellectual deficit (100%), early-onset of severe or intractable seizures in 78% of subjects, and increased prevalence (up to 67%) of sudden unexplained death; (d) high prevalence of microcephaly, with mean brain weight 300g less than in idiopathic autism; (e) several-fold increase in the number of developmental abnormalities, including defects of migration and dysplastic changes, especially numerous in the hippocampal formation; and (f) significant increase in the intraneuronal amyloid load, reflecting enhanced amyloid-? precursor protein processing with ?-secretase. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications [Texte imprimé et/ou numérique] / Jerzy WEGIEL, Auteur ; N. Carolyn SCHANEN, Auteur ; Edwin H. Jr COOK, Auteur ; W. Ted BROWN, Auteur ; Izabela KUCHNA, Auteur ; Krzysztof NOWICKI, Auteur ; Jarek WEGIEL, Auteur ; Humi IMAKI, Auteur ; Shuang Yong MA, Auteur ; Eric LONDON, Auteur ; Thomas WISNIEWSKI, Auteur . - 2013 . - p.347-359. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Postmortem studies of brains of individuals with idiopathic autism and 15q11.2–q13 duplications autism (dup(15)) identify a cluster of neuropathological features differentiating these cohorts. They show a need for both reclassification of autism according to etiology, clinical presentation and neuropathology, and a commonality of clinical and neuropathological traits justifying autism diagnosis. The features differentiating these cohorts include: (a) maternal origin in patients with dup(15); (b) autism in 78% of subjects; (c) more severe clinical phenotypes, with intellectual deficit (100%), early-onset of severe or intractable seizures in 78% of subjects, and increased prevalence (up to 67%) of sudden unexplained death; (d) high prevalence of microcephaly, with mean brain weight 300g less than in idiopathic autism; (e) several-fold increase in the number of developmental abnormalities, including defects of migration and dysplastic changes, especially numerous in the hippocampal formation; and (f) significant increase in the intraneuronal amyloid load, reflecting enhanced amyloid-? precursor protein processing with ?-secretase. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

Exemplaires

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Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome / E. I. PIERPONT in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.335-47 Titre : Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : E. I. PIERPONT, Auteur ; E. K. RICHMOND, Auteur ; Leonard ABBEDUTO, Auteur ; S. T. KOVER, Auteur ; W. Ted BROWN, Auteur Article en page(s) : p.335-47 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Although language delays are frequently observed in FXS, neither the longitudinal course of language development nor its cognitive predictors are well understood. The present study investigated whether phonological and working memory skills are predictive of growth in vocabulary and syntax in individuals with FXS during adolescence. Forty-four individuals with FXS (mean age = 12.61 years) completed assessments of phonological memory (nonword repetition and forward digit recall), verbal working memory (backward digit recall), vocabulary, syntax, and nonverbal cognition. Vocabulary and syntax skills were reassessed at a 2-year follow-up. In a series of analyses that controlled for nonverbal cognitive ability and severity of autism symptoms, the relative contributions of phonological and working memory to language change over time were investigated. These relationships were examined separately for boys and girls. In boys with FXS, phonological memory significantly predicted gains in vocabulary and syntax skills. Further, verbal working memory was uniquely associated with vocabulary gains among boys. In girls with FXS, phonological and working memory skills showed no relationship with language change across the 2-year time period. Our findings indicate that, for adolescent boys with FXS, acquisition of vocabulary and syntax may be constrained by the ability to maintain and manipulate phonological representations online. Implications for the identification and treatment of language disorders in this population are discussed. The present study is the first to identify specific cognitive mechanisms contributing to language growth over time in individuals with FXS. En ligne : http://dx.doi.org/10.1007/s11689-011-9095-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome [Texte imprimé et/ou numérique] / E. I. PIERPONT, Auteur ; E. K. RICHMOND, Auteur ; Leonard ABBEDUTO, Auteur ; S. T. KOVER, Auteur ; W. Ted BROWN, Auteur . - p.335-47. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.335-47 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Although language delays are frequently observed in FXS, neither the longitudinal course of language development nor its cognitive predictors are well understood. The present study investigated whether phonological and working memory skills are predictive of growth in vocabulary and syntax in individuals with FXS during adolescence. Forty-four individuals with FXS (mean age = 12.61 years) completed assessments of phonological memory (nonword repetition and forward digit recall), verbal working memory (backward digit recall), vocabulary, syntax, and nonverbal cognition. Vocabulary and syntax skills were reassessed at a 2-year follow-up. In a series of analyses that controlled for nonverbal cognitive ability and severity of autism symptoms, the relative contributions of phonological and working memory to language change over time were investigated. These relationships were examined separately for boys and girls. In boys with FXS, phonological memory significantly predicted gains in vocabulary and syntax skills. Further, verbal working memory was uniquely associated with vocabulary gains among boys. In girls with FXS, phonological and working memory skills showed no relationship with language change across the 2-year time period. Our findings indicate that, for adolescent boys with FXS, acquisition of vocabulary and syntax may be constrained by the ability to maintain and manipulate phonological representations online. Implications for the identification and treatment of language disorders in this population are discussed. The present study is the first to identify specific cognitive mechanisms contributing to language growth over time in individuals with FXS. En ligne : http://dx.doi.org/10.1007/s11689-011-9095-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Erratum to: Prevalence of Psychotropic Drug Use in Adults with Intellectual Disability: Positive and Negative Findings from a Large Scale Study / John A. TSIOURIS in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.732-732 Titre : Erratum to: Prevalence of Psychotropic Drug Use in Adults with Intellectual Disability: Positive and Negative Findings from a Large Scale Study Type de document : Texte imprimé et/ou numérique Auteurs : John A. TSIOURIS, Auteur ; Soh-Yule KIM, Auteur ; W. Ted BROWN, Auteur ; Jill PETTINGER, Auteur ; Ira L. COHEN, Auteur Article en page(s) : p.732-732 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-012-1634-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Erratum to: Prevalence of Psychotropic Drug Use in Adults with Intellectual Disability: Positive and Negative Findings from a Large Scale Study [Texte imprimé et/ou numérique] / John A. TSIOURIS, Auteur ; Soh-Yule KIM, Auteur ; W. Ted BROWN, Auteur ; Jill PETTINGER, Auteur ; Ira L. COHEN, Auteur . - p.732-732. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.732-732 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-012-1634-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents / V. QUADROS EDWARD in Autism Research, 11-5 (May 2018)  

Public ISBD [article]  inAutism Research > 11-5 (May 2018) . - p.707-712 Titre : Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents Type de document : Texte imprimé et/ou numérique Auteurs : V. QUADROS EDWARD, Auteur ; M. SEQUEIRA JEFFREY, Auteur ; W. Ted BROWN, Auteur ; Clifford MEVS, Auteur ; Elaine MARCHI, Auteur ; Michael FLORY, Auteur ; C. JENKINS EDMUND, Auteur ; T. VELINOV MILEN, Auteur ; Ira L. COHEN, Auteur Article en page(s) : p.707-712 Langues : Anglais (eng) Mots-clés : autism  folate receptor  autoantibodies Index. décimale : PER Périodiques Résumé : Folate deficiency can affect fetal and neonatal brain development Considering the reported association of Folate receptor alpha (FR?) autoantibodies (Abs) with autism and developmental disorders, we sought to confirm this in families of 82 children with ASD, 53 unaffected siblings, 65 fathers, and 70 mothers, along with 52 unrelated normal controls. Overall, 76% of the affected children, 75% of the unaffected siblings, 69% of fathers and 59% of mothers were positive for either blocking or binding Ab, whereas the prevalence of this Ab in the normal controls was 29%. The Ab was highly prevalent in affected families including unaffected siblings. The appearance of these antibodies may have a familial origin but the risk of developing ASD is likely influenced by other mitigating factors since some siblings who had the antibodies were not affected. The antibody response appears heritable with the blocking autoantibody in the parents and affected child increasing the risk of ASD. Autism Res 2018, 11: 707?712. ? 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Folate is an essential nutrient during fetal and infant development. Autoantibodies against the folate receptor alpha can block folate transport from the mother to the fetus and to the brain in infants. Children diagnosed with autism and their immediate family members were evaluated for the prevalence of folate receptor autoantibodies. The autoantibody was highly prevalent in affected families with similar distribution in parents, normal siblings and affected children. The presence of these antibodies appears to have a familial origin and may contribute to developmental deficits when combined with other factors. En ligne : https://doi.org/10.1002/aur.1934 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=363 [article] Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents [Texte imprimé et/ou numérique] / V. QUADROS EDWARD, Auteur ; M. SEQUEIRA JEFFREY, Auteur ; W. Ted BROWN, Auteur ; Clifford MEVS, Auteur ; Elaine MARCHI, Auteur ; Michael FLORY, Auteur ; C. JENKINS EDMUND, Auteur ; T. VELINOV MILEN, Auteur ; Ira L. COHEN, Auteur . - p.707-712. Langues : Anglais (eng) in Autism Research > 11-5 (May 2018) . - p.707-712 Mots-clés : autism  folate receptor  autoantibodies Index. décimale : PER Périodiques Résumé : Folate deficiency can affect fetal and neonatal brain development Considering the reported association of Folate receptor alpha (FR?) autoantibodies (Abs) with autism and developmental disorders, we sought to confirm this in families of 82 children with ASD, 53 unaffected siblings, 65 fathers, and 70 mothers, along with 52 unrelated normal controls. Overall, 76% of the affected children, 75% of the unaffected siblings, 69% of fathers and 59% of mothers were positive for either blocking or binding Ab, whereas the prevalence of this Ab in the normal controls was 29%. The Ab was highly prevalent in affected families including unaffected siblings. The appearance of these antibodies may have a familial origin but the risk of developing ASD is likely influenced by other mitigating factors since some siblings who had the antibodies were not affected. The antibody response appears heritable with the blocking autoantibody in the parents and affected child increasing the risk of ASD. Autism Res 2018, 11: 707?712. ? 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Folate is an essential nutrient during fetal and infant development. Autoantibodies against the folate receptor alpha can block folate transport from the mother to the fetus and to the brain in infants. Children diagnosed with autism and their immediate family members were evaluated for the prevalence of folate receptor autoantibodies. The autoantibody was highly prevalent in affected families with similar distribution in parents, normal siblings and affected children. The presence of these antibodies appears to have a familial origin and may contribute to developmental deficits when combined with other factors. En ligne : https://doi.org/10.1002/aur.1934 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=363

Fragile X Syndrome and Autism Spectrum Disorders / W. Ted BROWN

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Fragile X targeted pharmacotherapy: lessons learned and future directions / C. A. ERICKSON in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome / L. DEL HOYO SORIANO in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

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A Large Scale Study of the Psychometric Characteristics of the IBR Modified Overt Aggression Scale: Findings and Evidence for Increased Self-Destructive Behaviors in Adult Females with Autism Spectrum Disorder / Ira L. COHEN in Journal of Autism and Developmental Disorders, 40-5 (May 2010)  

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Prevalence of Psychotropic Drug Use in Adults with Intellectual Disability: Positive and Negative Findings from a Large Scale Study / John A. TSIOURIS in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

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Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety / J. KLUSEK in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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