Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome / C. DISTEFANO in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.19 Titre : Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome Type de document : Texte imprimé et/ou numérique Auteurs : C. DISTEFANO, Auteur ; A. GULSRUD, Auteur ; S. HUBERTY, Auteur ; Connie KASARI, Auteur ; E. COOK, Auteur ; L. T. REITER, Auteur ; R. THIBERT, Auteur ; S. S. JESTE, Auteur Article en page(s) : p.19 Langues : Anglais (eng) Mots-clés : Adaptive functioning  Autism spectrum disorder  Duplication 15q syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy. METHODS: Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status. RESULTS: All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy. CONCLUSIONS: The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-016-9152-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome [Texte imprimé et/ou numérique] / C. DISTEFANO, Auteur ; A. GULSRUD, Auteur ; S. HUBERTY, Auteur ; Connie KASARI, Auteur ; E. COOK, Auteur ; L. T. REITER, Auteur ; R. THIBERT, Auteur ; S. S. JESTE, Auteur . - p.19. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.19 Mots-clés : Adaptive functioning  Autism spectrum disorder  Duplication 15q syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy. METHODS: Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status. RESULTS: All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy. CONCLUSIONS: The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-016-9152-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Vocabulary comprehension in adults with fragile X syndrome (FXS) / A. HOFFMANN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 25 p. Titre : Vocabulary comprehension in adults with fragile X syndrome (FXS) Type de document : Texte imprimé et/ou numérique Auteurs : A. HOFFMANN, Auteur ; S. E. KRAUSE, Auteur ; J. WUU, Auteur ; S. LEURGANS, Auteur ; S. J. GUTER, Auteur ; S. S. BLOCK, Auteur ; J. SALT, Auteur ; E. COOK, Auteur ; D. M. MAINO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur Article en page(s) : 25 p. Langues : Anglais (eng) Mots-clés : Adults  Cognition  Comprehension  Fragile X syndrome  Language  Vocabulary Index. décimale : PER Périodiques Résumé : BACKGROUND: Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability. METHODS: This preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV). RESULTS: Results showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS. CONCLUSIONS: Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential. En ligne : https://dx.doi.org/10.1186/s11689-019-9285-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Vocabulary comprehension in adults with fragile X syndrome (FXS) [Texte imprimé et/ou numérique] / A. HOFFMANN, Auteur ; S. E. KRAUSE, Auteur ; J. WUU, Auteur ; S. LEURGANS, Auteur ; S. J. GUTER, Auteur ; S. S. BLOCK, Auteur ; J. SALT, Auteur ; E. COOK, Auteur ; D. M. MAINO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur . - 25 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 25 p. Mots-clés : Adults  Cognition  Comprehension  Fragile X syndrome  Language  Vocabulary Index. décimale : PER Périodiques Résumé : BACKGROUND: Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability. METHODS: This preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV). RESULTS: Results showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS. CONCLUSIONS: Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential. En ligne : https://dx.doi.org/10.1186/s11689-019-9285-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder / E. AARON in Journal of Autism and Developmental Disorders, 49-6 (June 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2417-2425 Titre : Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : E. AARON, Auteur ; A. MONTGOMERY, Auteur ; X. REN, Auteur ; S. GUTER, Auteur ; George M. ANDERSON, Auteur ; Ana M.D. CARNEIRO, Auteur ; S. JACOB, Auteur ; M. MOSCONI, Auteur ; G. N. PANDEY, Auteur ; E. COOK, Auteur ; J. VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.2417-2425 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Biomarker  Hyperserotonemia  Receptor  Serotonin Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin (WB5-HT) is a well-replicated biomarker in autism spectrum disorder (ASD). Decreased platelet serotonin receptor 5-HT2A binding has been reported in ASD. WB5-HT levels and platelet 5-HT2A specific binding were obtained from 110 individuals with ASD and 18 controls. Individuals with ASD had significantly higher WB5-HT levels than controls. There was no difference in the platelet 5-HT2A specific binding between groups. Multiple regression analyses revealed that platelet 5-HT2A binding significantly predicted WB5-HT in the control sample but not in the ASD sample. These results indicate that the relationship between WB5-HT and platelet 5-HT2A binding differs depending on ASD diagnosis, suggesting differences in platelet 5-HT system regulation in ASD. En ligne : https://dx.doi.org/10.1007/s10803-019-03989-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 [article] Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / E. AARON, Auteur ; A. MONTGOMERY, Auteur ; X. REN, Auteur ; S. GUTER, Auteur ; George M. ANDERSON, Auteur ; Ana M.D. CARNEIRO, Auteur ; S. JACOB, Auteur ; M. MOSCONI, Auteur ; G. N. PANDEY, Auteur ; E. COOK, Auteur ; J. VEENSTRA-VANDERWEELE, Auteur . - p.2417-2425. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2417-2425 Mots-clés : Autism spectrum disorder  Biomarker  Hyperserotonemia  Receptor  Serotonin Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin (WB5-HT) is a well-replicated biomarker in autism spectrum disorder (ASD). Decreased platelet serotonin receptor 5-HT2A binding has been reported in ASD. WB5-HT levels and platelet 5-HT2A specific binding were obtained from 110 individuals with ASD and 18 controls. Individuals with ASD had significantly higher WB5-HT levels than controls. There was no difference in the platelet 5-HT2A specific binding between groups. Multiple regression analyses revealed that platelet 5-HT2A binding significantly predicted WB5-HT in the control sample but not in the ASD sample. These results indicate that the relationship between WB5-HT and platelet 5-HT2A binding differs depending on ASD diagnosis, suggesting differences in platelet 5-HT system regulation in ASD. En ligne : https://dx.doi.org/10.1007/s10803-019-03989-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

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