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

Medical Issues / Fred R. VOLKMAR

Public ISBD contenu dans Autism Spectrum Disorders in Infants and Toddlers / Katarzyna CHAWARSKA Titre : Medical Issues Type de document : Texte imprimé et/ou numérique Auteurs : Fred R. VOLKMAR, Auteur ; Alexander WESTPHAL, Auteur ; Abha R. GUPTA, Auteur ; Lisa WIESNER, Auteur Année de publication : 2008 Importance : p.274-299 Langues : Anglais (eng) Index. décimale : AUT-D AUT-D - L'Autisme - Dépistage et Diagnostic Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=716 contenu dans Autism Spectrum Disorders in Infants and Toddlers / Katarzyna CHAWARSKA Medical Issues [Texte imprimé et/ou numérique] / Fred R. VOLKMAR, Auteur ; Alexander WESTPHAL, Auteur ; Abha R. GUPTA, Auteur ; Lisa WIESNER, Auteur . - 2008 . - p.274-299. Langues : Anglais (eng) Index. décimale : AUT-D AUT-D - L'Autisme - Dépistage et Diagnostic Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=716

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Rare deleterious mutations of the gene EFR3A in autism spectrum disorders / Abha R. GUPTA in Molecular Autism, (April 2014)  

Public ISBD [article]  inMolecular Autism > (April 2014) . - p.1-14 Titre : Rare deleterious mutations of the gene EFR3A in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Abha R. GUPTA, Auteur ; Michelle PIRRUCCELLO, Auteur ; Feng CHENG, Auteur ; Hyo Jung KANG, Auteur ; Thomas V. FERNANDEZ, Auteur ; Jeremy M. BASKIN, Auteur ; Murim CHOI, Auteur ; Li LIU, Auteur ; Adife Gulhan ERCAN-SENCICEK, Auteur ; John D. MURDOCH, Auteur ; Lambertus KLEI, Auteur ; Benjamin M. NEALE, Auteur ; Daniel FRANJIC, Auteur ; Mark J. DALY, Auteur ; Richard P. LIFTON, Auteur ; Pietro DE CAMILLI, Auteur ; Hongyu ZHAO, Auteur ; Nenad ŠESTAN, Auteur ; Matthew W. STATE, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in EFR3A would be significantly associated with ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Rare deleterious mutations of the gene EFR3A in autism spectrum disorders [Texte imprimé et/ou numérique] / Abha R. GUPTA, Auteur ; Michelle PIRRUCCELLO, Auteur ; Feng CHENG, Auteur ; Hyo Jung KANG, Auteur ; Thomas V. FERNANDEZ, Auteur ; Jeremy M. BASKIN, Auteur ; Murim CHOI, Auteur ; Li LIU, Auteur ; Adife Gulhan ERCAN-SENCICEK, Auteur ; John D. MURDOCH, Auteur ; Lambertus KLEI, Auteur ; Benjamin M. NEALE, Auteur ; Daniel FRANJIC, Auteur ; Mark J. DALY, Auteur ; Richard P. LIFTON, Auteur ; Pietro DE CAMILLI, Auteur ; Hongyu ZHAO, Auteur ; Nenad ŠESTAN, Auteur ; Matthew W. STATE, Auteur . - p.1-14. Langues : Anglais (eng) in Molecular Autism > (April 2014) . - p.1-14 Index. décimale : PER Périodiques Résumé : Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in EFR3A would be significantly associated with ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

The relationship between gamma-band neural oscillations and language skills in youth with Autism Spectrum Disorder and their first-degree relatives / Vardan ARUTIUNIAN in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 19p. Titre : The relationship between gamma-band neural oscillations and language skills in youth with Autism Spectrum Disorder and their first-degree relatives Type de document : Texte imprimé et/ou numérique Auteurs : Vardan ARUTIUNIAN, Auteur ; Megha SANTHOSH, Auteur ; Emily NEUHAUS, Auteur ; Heather BORLAND, Auteur ; Chris TOMPKINS, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Abha R. GUPTA, Auteur ; Allison JACK, Auteur ; Shafali JESTE, Auteur ; James C. MCPARTLAND, Auteur ; Adam NAPLES, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Sara Jane WEBB, Auteur Article en page(s) : 19p. Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology/psychology  Male  Female  Adolescent  Gamma Rhythm  Child  Electroencephalography  Language  Family  Siblings  Autism Spectrum Disorder (ASD)  Excitation/inhibition balance  Gamma power  Language skills  Unaffected siblings  Health, and BlackThorn Therapeutics, has received research funding from Janssen  Research and Development, serves on the Scientific Advisory Boards of Pastorus  and Modern Clinics, and receives royalties from Guilford Press, Lambert, Oxford,  and Springer. The remaining authors have no conflict of interest to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Most children with Autism Spectrum Disorder (ASD) have co-occurring language impairments and some of these autism-specific language difficulties are also present in their non-autistic first-degree relatives. One of the possible neural mechanisms associated with variability in language functioning is alterations in cortical gamma-band oscillations, hypothesized to be related to neural excitation and inhibition balance. METHODS: We used a high-density 128-channel electroencephalography (EEG) to register brain response to speech stimuli in a large sex-balanced sample of participants: 125 youth with ASD, 121 typically developing (TD) youth, and 40 unaffected siblings (US) of youth with ASD. Language skills were assessed with Clinical Evaluation of Language Fundamentals. RESULTS: First, during speech processing, we identified significantly elevated gamma power in ASD participants compared to TD controls. Second, across all youth, higher gamma power was associated with lower language skills. Finally, the US group demonstrated an intermediate profile in both language and gamma power, with nonverbal IQ mediating the relationship between gamma power and language skills. LIMITATIONS: We only focused on one of the possible neural contributors to variability in language functioning. Also, the US group consisted of a smaller number of participants in comparison to the ASD or TD groups. Finally, due to the timing issue in EEG system we have provided only non-phase-locked analysis. CONCLUSIONS: Autistic youth showed elevated gamma power, suggesting higher excitation in the brain in response to speech stimuli and elevated gamma power was related to lower language skills. The US group showed an intermediate pattern of gamma activity, suggesting that the broader autism phenotype extends to neural profiles. En ligne : https://dx.doi.org/10.1186/s13229-024-00598-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] The relationship between gamma-band neural oscillations and language skills in youth with Autism Spectrum Disorder and their first-degree relatives [Texte imprimé et/ou numérique] / Vardan ARUTIUNIAN, Auteur ; Megha SANTHOSH, Auteur ; Emily NEUHAUS, Auteur ; Heather BORLAND, Auteur ; Chris TOMPKINS, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Abha R. GUPTA, Auteur ; Allison JACK, Auteur ; Shafali JESTE, Auteur ; James C. MCPARTLAND, Auteur ; Adam NAPLES, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Sara Jane WEBB, Auteur . - 19p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 19p. Mots-clés : Humans  Autism Spectrum Disorder/physiopathology/psychology  Male  Female  Adolescent  Gamma Rhythm  Child  Electroencephalography  Language  Family  Siblings  Autism Spectrum Disorder (ASD)  Excitation/inhibition balance  Gamma power  Language skills  Unaffected siblings  Health, and BlackThorn Therapeutics, has received research funding from Janssen  Research and Development, serves on the Scientific Advisory Boards of Pastorus  and Modern Clinics, and receives royalties from Guilford Press, Lambert, Oxford,  and Springer. The remaining authors have no conflict of interest to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Most children with Autism Spectrum Disorder (ASD) have co-occurring language impairments and some of these autism-specific language difficulties are also present in their non-autistic first-degree relatives. One of the possible neural mechanisms associated with variability in language functioning is alterations in cortical gamma-band oscillations, hypothesized to be related to neural excitation and inhibition balance. METHODS: We used a high-density 128-channel electroencephalography (EEG) to register brain response to speech stimuli in a large sex-balanced sample of participants: 125 youth with ASD, 121 typically developing (TD) youth, and 40 unaffected siblings (US) of youth with ASD. Language skills were assessed with Clinical Evaluation of Language Fundamentals. RESULTS: First, during speech processing, we identified significantly elevated gamma power in ASD participants compared to TD controls. Second, across all youth, higher gamma power was associated with lower language skills. Finally, the US group demonstrated an intermediate profile in both language and gamma power, with nonverbal IQ mediating the relationship between gamma power and language skills. LIMITATIONS: We only focused on one of the possible neural contributors to variability in language functioning. Also, the US group consisted of a smaller number of participants in comparison to the ASD or TD groups. Finally, due to the timing issue in EEG system we have provided only non-phase-locked analysis. CONCLUSIONS: Autistic youth showed elevated gamma power, suggesting higher excitation in the brain in response to speech stimuli and elevated gamma power was related to lower language skills. The US group showed an intermediate pattern of gamma activity, suggesting that the broader autism phenotype extends to neural profiles. En ligne : https://dx.doi.org/10.1186/s13229-024-00598-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

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