Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome / V. SARAVANAPANDIAN in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 54 p. Titre : Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome Type de document : Texte imprimé et/ou numérique Auteurs : V. SARAVANAPANDIAN, Auteur ; D. NADKARNI, Auteur ; S. H. HSU, Auteur ; S. A. HUSSAIN, Auteur ; K. MASKI, Auteur ; P. GOLSHANI, Auteur ; C. S. COLWELL, Auteur ; S. BALASUBRAMANIAN, Auteur ; A. DIXON, Auteur ; Daniel H. GESCHWIND, Auteur ; S. S. JESTE, Auteur Article en page(s) : 54 p. Langues : Anglais (eng) Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gabaar  Sleep  Slow wave sleep  Spindles  UBE3A  Hoffmann-La Roche Ltd. and Yamo Pharmaceuticals. All the other authors declare that  they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbances in autism spectrum disorder (ASD) represent a common and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the mechanisms associated with specific genetic etiologies. Duplications of 15q11.2-13.1 (Dup15q syndrome) are highly penetrant for neurodevelopmental disorders (NDDs) such as intellectual disability and ASD, as well as sleep disturbances. Genes in the 15q region, particularly UBE3A and a cluster of GABA(A) receptor genes, are critical for neural development, synaptic protein synthesis and degradation, and inhibitory neurotransmission. During awake electroencephalography (EEG), children with Dup15q syndrome demonstrate increased beta band oscillations (12-30 Hz) that likely reflect aberrant GABAergic neurotransmission. Healthy sleep rhythms, necessary for robust cognitive development, are also highly dependent on GABAergic neurotransmission. We therefore hypothesized that sleep physiology would be abnormal in children with Dup15q syndrome. METHODS: To test the hypothesis that elevated beta oscillations persist in sleep in Dup15q syndrome and that NREM sleep rhythms would be disrupted, we computed: (1) beta power, (2) spindle density, and (3) percentage of slow-wave sleep (SWS) in overnight sleep EEG recordings from a cohort of children with Dup15q syndrome (n?=?15) and compared them to age-matched neurotypical children (n?=?12). RESULTS: Children with Dup15q syndrome showed abnormal sleep physiology with elevated beta power, reduced spindle density, and reduced or absent SWS compared to age-matched neurotypical controls. LIMITATIONS: This study relied on clinical EEG where sleep staging was not available. However, considering that clinical polysomnograms are challenging to collect in this population, the ability to quantify these biomarkers on clinical EEG-routinely ordered for epilepsy monitoring-opens the door for larger-scale studies. While comparable to other human studies in rare genetic disorders, a larger sample would allow for examination of the role of seizure severity, medications, and developmental age that may impact sleep physiology. CONCLUSIONS: We have identified three quantitative EEG biomarkers of sleep disruption in Dup15q syndrome, a genetic condition highly penetrant for ASD. Insights from this study not only promote a greater mechanistic understanding of the pathophysiology defining Dup15q syndrome, but also lay the foundation for studies that investigate the association between sleep and cognition. Abnormal sleep physiology may undermine healthy cognitive development and may serve as a quantifiable and modifiable target for behavioral and pharmacological interventions. En ligne : http://dx.doi.org/10.1186/s13229-021-00460-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome [Texte imprimé et/ou numérique] / V. SARAVANAPANDIAN, Auteur ; D. NADKARNI, Auteur ; S. H. HSU, Auteur ; S. A. HUSSAIN, Auteur ; K. MASKI, Auteur ; P. GOLSHANI, Auteur ; C. S. COLWELL, Auteur ; S. BALASUBRAMANIAN, Auteur ; A. DIXON, Auteur ; Daniel H. GESCHWIND, Auteur ; S. S. JESTE, Auteur . - 54 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 54 p. Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gabaar  Sleep  Slow wave sleep  Spindles  UBE3A  Hoffmann-La Roche Ltd. and Yamo Pharmaceuticals. All the other authors declare that  they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbances in autism spectrum disorder (ASD) represent a common and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the mechanisms associated with specific genetic etiologies. Duplications of 15q11.2-13.1 (Dup15q syndrome) are highly penetrant for neurodevelopmental disorders (NDDs) such as intellectual disability and ASD, as well as sleep disturbances. Genes in the 15q region, particularly UBE3A and a cluster of GABA(A) receptor genes, are critical for neural development, synaptic protein synthesis and degradation, and inhibitory neurotransmission. During awake electroencephalography (EEG), children with Dup15q syndrome demonstrate increased beta band oscillations (12-30 Hz) that likely reflect aberrant GABAergic neurotransmission. Healthy sleep rhythms, necessary for robust cognitive development, are also highly dependent on GABAergic neurotransmission. We therefore hypothesized that sleep physiology would be abnormal in children with Dup15q syndrome. METHODS: To test the hypothesis that elevated beta oscillations persist in sleep in Dup15q syndrome and that NREM sleep rhythms would be disrupted, we computed: (1) beta power, (2) spindle density, and (3) percentage of slow-wave sleep (SWS) in overnight sleep EEG recordings from a cohort of children with Dup15q syndrome (n?=?15) and compared them to age-matched neurotypical children (n?=?12). RESULTS: Children with Dup15q syndrome showed abnormal sleep physiology with elevated beta power, reduced spindle density, and reduced or absent SWS compared to age-matched neurotypical controls. LIMITATIONS: This study relied on clinical EEG where sleep staging was not available. However, considering that clinical polysomnograms are challenging to collect in this population, the ability to quantify these biomarkers on clinical EEG-routinely ordered for epilepsy monitoring-opens the door for larger-scale studies. While comparable to other human studies in rare genetic disorders, a larger sample would allow for examination of the role of seizure severity, medications, and developmental age that may impact sleep physiology. CONCLUSIONS: We have identified three quantitative EEG biomarkers of sleep disruption in Dup15q syndrome, a genetic condition highly penetrant for ASD. Insights from this study not only promote a greater mechanistic understanding of the pathophysiology defining Dup15q syndrome, but also lay the foundation for studies that investigate the association between sleep and cognition. Abnormal sleep physiology may undermine healthy cognitive development and may serve as a quantifiable and modifiable target for behavioral and pharmacological interventions. En ligne : http://dx.doi.org/10.1186/s13229-021-00460-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Brief Report: Under-Representation of African Americans in Autism Genetic Research: A Rationale for Inclusion of Subjects Representing Diverse Family Structures / Claudia HILTON in Journal of Autism and Developmental Disorders, 40-5 (May 2010)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 40-5 (May 2010) . - p.633-639 Titre : Brief Report: Under-Representation of African Americans in Autism Genetic Research: A Rationale for Inclusion of Subjects Representing Diverse Family Structures Type de document : Texte imprimé et/ou numérique Auteurs : Claudia HILTON, Auteur ; John N. CONSTANTINO, Auteur ; Paul T. SHATTUCK, Auteur ; Rolanda A. MAXIM, Auteur ; Robert T. FITZGERALD, Auteur ; Kelley M. JACKSON, Auteur ; Christopher C. BOSWORTH, Auteur ; Daniel H. GESCHWIND, Auteur Année de publication : 2010 Article en page(s) : p.633-639 Langues : Anglais (eng) Mots-clés : Ethnicity African-American Minority-representation Index. décimale : PER Périodiques Résumé : African American children with autism are seriously under-represented in existing genetic registries and biomedical research studies of autism. We estimated the number of African American children with autism in the St. Louis region using CDC surveillance data and present the outcomes of a concerted effort to enroll approximately one-third of that population into either of two large national genetic autism registries. The results revealed that even after traditional barriers to research participation were addressed and all contacted families expressed a willingness to participate, 67% of the reachable families were disqualified from participation because of family structure alone. Comprehensive efforts—including expansion of eligibility to families of diverse structure—are warranted to facilitate the inclusion of African American children in biomedical research. En ligne : http://dx.doi.org/10.1007/s10803-009-0905-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=101 [article] Brief Report: Under-Representation of African Americans in Autism Genetic Research: A Rationale for Inclusion of Subjects Representing Diverse Family Structures [Texte imprimé et/ou numérique] / Claudia HILTON, Auteur ; John N. CONSTANTINO, Auteur ; Paul T. SHATTUCK, Auteur ; Rolanda A. MAXIM, Auteur ; Robert T. FITZGERALD, Auteur ; Kelley M. JACKSON, Auteur ; Christopher C. BOSWORTH, Auteur ; Daniel H. GESCHWIND, Auteur . - 2010 . - p.633-639. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 40-5 (May 2010) . - p.633-639 Mots-clés : Ethnicity African-American Minority-representation Index. décimale : PER Périodiques Résumé : African American children with autism are seriously under-represented in existing genetic registries and biomedical research studies of autism. We estimated the number of African American children with autism in the St. Louis region using CDC surveillance data and present the outcomes of a concerted effort to enroll approximately one-third of that population into either of two large national genetic autism registries. The results revealed that even after traditional barriers to research participation were addressed and all contacted families expressed a willingness to participate, 67% of the reachable families were disqualified from participation because of family structure alone. Comprehensive efforts—including expansion of eligibility to families of diverse structure—are warranted to facilitate the inclusion of African American children in biomedical research. En ligne : http://dx.doi.org/10.1007/s10803-009-0905-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=101

CNTNAP2 and autism spectrum disorders / Olga PENAGARIKANO

Public ISBD in The Autisms / Craig M. POWELL Titre : CNTNAP2 and autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Olga PENAGARIKANO, Auteur ; Daniel H. GESCHWIND, Auteur Année de publication : 2013 Importance : p.274-285 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Autisms / Craig M. POWELL CNTNAP2 and autism spectrum disorders [Texte imprimé et/ou numérique] / Olga PENAGARIKANO, Auteur ; Daniel H. GESCHWIND, Auteur . - 2013 . - p.274-285. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

Exemplaires

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Commentary: Autism Genetics and Genomics: A Brief Overview and Synthesis / Daniel H. GESCHWIND

Public ISBD in Autism Spectrum Disorders / David G. AMARAL Titre : Commentary: Autism Genetics and Genomics: A Brief Overview and Synthesis Type de document : Texte imprimé et/ou numérique Auteurs : Daniel H. GESCHWIND, Auteur Année de publication : 2011 Importance : p.812-824 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 in Autism Spectrum Disorders / David G. AMARAL Commentary: Autism Genetics and Genomics: A Brief Overview and Synthesis [Texte imprimé et/ou numérique] / Daniel H. GESCHWIND, Auteur . - 2011 . - p.812-824. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139

Exemplaires

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A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder / Megha SANTHOSH ; Emily NEUHAUS ; Catherine A. W. SULLIVAN ; Raphael A. BERNIER ; Susan Y. BOOKHEIMER ; Mirella DAPRETTO ; Daniel H. GESCHWIND ; Allison JACK ; James C. MCPARTLAND ; John D. VAN HORN ; Kevin A. PELPHREY ; Abha R. GUPTA ; Sara Jane WEBB ; A. C. E. Gendaar Network THE in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.898-908 Titre : A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Megha SANTHOSH, Auteur ; Emily NEUHAUS, Auteur ; Catherine A. W. SULLIVAN, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Daniel H. GESCHWIND, Auteur ; Allison JACK, Auteur ; James C. MCPARTLAND, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Abha R. GUPTA, Auteur ; Sara Jane WEBB, Auteur ; A. C. E. Gendaar Network THE, Auteur Article en page(s) : p.898-908 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  communication  language  SNP rs2710102  the polymorphism of CNTNAP2 Index. décimale : PER Périodiques Résumé : Abstract One of the candidate genes related to language variability in individuals with Autism Spectrum Disorder (ASD) is the contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin family. However, due to the different assessment tools used, it is unknown whether the polymorphisms of the CNTNAP2 gene are linked to structural language skills or more general communication abilities. A total of 302 youth aged 7 to 18?years participated in the present study: 131 verbal youth with ASD (62 female), 130 typically developing (TD) youth (64 female), and 41 unaffected siblings (US) of youth with ASD (25 female). Blood samples were collected to obtain genomic DNA and processed by the Rutgers University Cell and Data Repository or using standard protocols (Gentra Puregene Blood DNA extraction kit; Qiagen). Language and verbal communication skills were screened with the Clinical Evaluation of Language Fundamental-4 (CELF-4) and Vineland-II Communication domain, subsequently. The results showed that the polymorphism of CNTNAP2 (SNP rs2710102) was related to structural language abilities, such that participants carrying the A-allele had lower language skills in comparison to the G-allele homozygotes. No relationship was found between the polymorphism of CNTNAP2 and more general communication abilities. Although the study revealed genetic mechanisms that are associated with CELF-4 measures but not Vineland-II in youth with ASD, follow-up studies are needed that will include measures of language and communication that are less correlated to each other as well as will include a group of minimally and/or non-verbal individuals with ASD. En ligne : https://doi.org/10.1002/aur.3193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Megha SANTHOSH, Auteur ; Emily NEUHAUS, Auteur ; Catherine A. W. SULLIVAN, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Daniel H. GESCHWIND, Auteur ; Allison JACK, Auteur ; James C. MCPARTLAND, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Abha R. GUPTA, Auteur ; Sara Jane WEBB, Auteur ; A. C. E. Gendaar Network THE, Auteur . - p.898-908. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.898-908 Mots-clés : Autism Spectrum Disorder  communication  language  SNP rs2710102  the polymorphism of CNTNAP2 Index. décimale : PER Périodiques Résumé : Abstract One of the candidate genes related to language variability in individuals with Autism Spectrum Disorder (ASD) is the contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin family. However, due to the different assessment tools used, it is unknown whether the polymorphisms of the CNTNAP2 gene are linked to structural language skills or more general communication abilities. A total of 302 youth aged 7 to 18?years participated in the present study: 131 verbal youth with ASD (62 female), 130 typically developing (TD) youth (64 female), and 41 unaffected siblings (US) of youth with ASD (25 female). Blood samples were collected to obtain genomic DNA and processed by the Rutgers University Cell and Data Repository or using standard protocols (Gentra Puregene Blood DNA extraction kit; Qiagen). Language and verbal communication skills were screened with the Clinical Evaluation of Language Fundamental-4 (CELF-4) and Vineland-II Communication domain, subsequently. The results showed that the polymorphism of CNTNAP2 (SNP rs2710102) was related to structural language abilities, such that participants carrying the A-allele had lower language skills in comparison to the G-allele homozygotes. No relationship was found between the polymorphism of CNTNAP2 and more general communication abilities. Although the study revealed genetic mechanisms that are associated with CELF-4 measures but not Vineland-II in youth with ASD, follow-up studies are needed that will include measures of language and communication that are less correlated to each other as well as will include a group of minimally and/or non-verbal individuals with ASD. En ligne : https://doi.org/10.1002/aur.3193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Common genetic variants, acting additively, are a major source of risk for autism / Lambertus KLEI in Molecular Autism, (October 2012)  

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CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes / C. FRICANO-KUGLER in Molecular Autism, 10 (2019)  

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Human in vitro models for understanding mechanisms of autism spectrum disorder / Aaron GORDON in Molecular Autism, 11 (2020)  

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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 / Pauline CHASTE in Autism Research, 7-3 (June 2014)  

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Personal victimization experiences of autistic and non-autistic children / Natalie LIBSTER in Molecular Autism, 13 (2022)  

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Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins / Donna M. WERLING in Molecular Autism, (May 2015)  

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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders / Catarina T. CORREIA in Molecular Autism, (April 2014)  

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Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder / Donna WERLING in Molecular Autism, (February 2014)  

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Sex differences in friendships and loneliness in autistic and non-autistic children across development / Azia KNOX ; Selin ENGIN ; Daniel H. GESCHWIND ; Julia PARISH-MORRIS ; Connie KASARI in Molecular Autism, 14 (2023)  

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Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex / M. SCHWEDE in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

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