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Auteur Jennifer E. MULLETT |
Documents disponibles écrits par cet auteur (4)
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Brief Report: Acamprosate in Fragile X Syndrome / Craig ERICKSON in Journal of Autism and Developmental Disorders, 40-11 (November 2010)
[article]
Titre : Brief Report: Acamprosate in Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Craig ERICKSON, Auteur ; Jennifer E. MULLETT, Auteur ; Christopher J. MCDOUGLE, Auteur Année de publication : 2010 Article en page(s) : p.1412-1416 Langues : Anglais (eng) Mots-clés : Acamprosate Fragile X syndrome mGluR5 Language Irritability Index. décimale : PER Périodiques Résumé : Glutamatergic dysfunction is implicated in the pathophysiology of fragile X syndrome (FXS). We report on the first trial of acamprosate, a drug with putative mGluR5 antagonism, in three adults with FXS and autism. Medical records describing open-label treatment with acamprosate in 3 patients with FXS and a comorbid diagnosis of autistic disorder were reviewed. In all three patients, acamprosate was associated with improved linguistic communication. Three patients received acamprosate over a mean 21.3 weeks of treatment. All patients showed global clinical benefit as rated with the Clinical Global Impressions-Improvement scale. Marked communication improvement was unexpected and has potential implications for the treatment of FXS, as well as idiopathic autism. En ligne : http://dx.doi.org/10.1007/s10803-010-0988-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114
in Journal of Autism and Developmental Disorders > 40-11 (November 2010) . - p.1412-1416[article] Brief Report: Acamprosate in Fragile X Syndrome [Texte imprimé et/ou numérique] / Craig ERICKSON, Auteur ; Jennifer E. MULLETT, Auteur ; Christopher J. MCDOUGLE, Auteur . - 2010 . - p.1412-1416.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 40-11 (November 2010) . - p.1412-1416
Mots-clés : Acamprosate Fragile X syndrome mGluR5 Language Irritability Index. décimale : PER Périodiques Résumé : Glutamatergic dysfunction is implicated in the pathophysiology of fragile X syndrome (FXS). We report on the first trial of acamprosate, a drug with putative mGluR5 antagonism, in three adults with FXS and autism. Medical records describing open-label treatment with acamprosate in 3 patients with FXS and a comorbid diagnosis of autistic disorder were reviewed. In all three patients, acamprosate was associated with improved linguistic communication. Three patients received acamprosate over a mean 21.3 weeks of treatment. All patients showed global clinical benefit as rated with the Clinical Global Impressions-Improvement scale. Marked communication improvement was unexpected and has potential implications for the treatment of FXS, as well as idiopathic autism. En ligne : http://dx.doi.org/10.1007/s10803-010-0988-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114 Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder / Stephen K. SIECINSKI in Autism Research, 16-3 (March 2023)
[article]
Titre : Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Stephen K. SIECINSKI, Auteur ; Stephanie N. GIAMBERARDINO, Auteur ; Marina SPANOS, Auteur ; Annalise C. HAUSER, Auteur ; Jason R. GIBSON, Auteur ; Tara CHANDRASEKHAR, Auteur ; Maria Del Pilar TRELLES, Auteur ; Carol M. ROCKHILL, Auteur ; Michelle L. PALUMBO, Auteur ; Allyson Witters CUNDIFF, Auteur ; Alicia MONTGOMERY, Auteur ; Paige SIPER, Auteur ; Mendy MINJAREZ, Auteur ; Lisa A. NOWINSKI, Auteur ; Sarah MARLER, Auteur ; Lydia C. KWEE, Auteur ; Lauren C. SHUFFREY, Auteur ; Cheryl ALDERMAN, Auteur ; Jordana WEISSMAN, Auteur ; Brooke ZAPPONE, Auteur ; Jennifer E. MULLETT, Auteur ; Hope CROSSON, Auteur ; Natalie HONG, Auteur ; Sheng LUO, Auteur ; Lilin SHE, Auteur ; Manjushri BHAPKAR, Auteur ; Russell DEAN, Auteur ; Abby SCHEER, Auteur ; Jacqueline L. JOHNSON, Auteur ; Bryan H. KING, Auteur ; Christopher J. MCDOUGLE, Auteur ; Kevin B. SANDERS, Auteur ; Soo-Jeong KIM, Auteur ; Alexander KOLEVZON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Elizabeth R. HAUSER, Auteur ; Linmarie SIKICH, Auteur ; Simon G. GREGORY, Auteur Article en page(s) : p.502-523 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We investigated whether genetic and epigenetic variation contribute to variable endogenous OT levels that modulate sensitivity to OT therapy. To carry out this analysis, we integrated genome-wide profiles of DNA-methylation, transcriptional activity, and genetic variation with plasma OT levels in 290 participants with ASD enrolled in a randomized controlled trial of OT. Our analysis identified genetic variants with novel association with plasma OT, several of which reside in known ASD risk genes. We also show subtle but statistically significant association of plasma OT levels with peripheral transcriptional activity and DNA-methylation profiles across several annotated gene sets. These findings broaden our understanding of the effects of the peripheral oxytocin system and provide novel genetic candidates for future studies to decode the complex etiology of ASD and its interaction with OT signaling and OT-based interventions. Lay Summary Oxytocin (OT) is an abundant chemical produced by neurons that plays an important role in social interaction and motivation. We investigated whether genetic and epigenetic factors contribute to variable OT levels in the blood. To this, we integrated genetic, gene expression, and non-DNA regulated (epigenetic) signatures with blood OT levels in 290 participants with autism enrolled in an OT clinical trial. We identified genetic association with plasma OT, several of which reside in known autism risk genes. We also show statistically significant association of plasma OT levels with gene expression and epigenetic across several gene pathways. These findings broaden our understanding of the factors that influence OT levels in the blood for future studies to decode the complex presentation of autism and its interaction with OT and OT-based treatment. En ligne : https://doi.org/10.1002/aur.2884 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=498
in Autism Research > 16-3 (March 2023) . - p.502-523[article] Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder [Texte imprimé et/ou numérique] / Stephen K. SIECINSKI, Auteur ; Stephanie N. GIAMBERARDINO, Auteur ; Marina SPANOS, Auteur ; Annalise C. HAUSER, Auteur ; Jason R. GIBSON, Auteur ; Tara CHANDRASEKHAR, Auteur ; Maria Del Pilar TRELLES, Auteur ; Carol M. ROCKHILL, Auteur ; Michelle L. PALUMBO, Auteur ; Allyson Witters CUNDIFF, Auteur ; Alicia MONTGOMERY, Auteur ; Paige SIPER, Auteur ; Mendy MINJAREZ, Auteur ; Lisa A. NOWINSKI, Auteur ; Sarah MARLER, Auteur ; Lydia C. KWEE, Auteur ; Lauren C. SHUFFREY, Auteur ; Cheryl ALDERMAN, Auteur ; Jordana WEISSMAN, Auteur ; Brooke ZAPPONE, Auteur ; Jennifer E. MULLETT, Auteur ; Hope CROSSON, Auteur ; Natalie HONG, Auteur ; Sheng LUO, Auteur ; Lilin SHE, Auteur ; Manjushri BHAPKAR, Auteur ; Russell DEAN, Auteur ; Abby SCHEER, Auteur ; Jacqueline L. JOHNSON, Auteur ; Bryan H. KING, Auteur ; Christopher J. MCDOUGLE, Auteur ; Kevin B. SANDERS, Auteur ; Soo-Jeong KIM, Auteur ; Alexander KOLEVZON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Elizabeth R. HAUSER, Auteur ; Linmarie SIKICH, Auteur ; Simon G. GREGORY, Auteur . - p.502-523.
Langues : Anglais (eng)
in Autism Research > 16-3 (March 2023) . - p.502-523
Index. décimale : PER Périodiques Résumé : Abstract Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We investigated whether genetic and epigenetic variation contribute to variable endogenous OT levels that modulate sensitivity to OT therapy. To carry out this analysis, we integrated genome-wide profiles of DNA-methylation, transcriptional activity, and genetic variation with plasma OT levels in 290 participants with ASD enrolled in a randomized controlled trial of OT. Our analysis identified genetic variants with novel association with plasma OT, several of which reside in known ASD risk genes. We also show subtle but statistically significant association of plasma OT levels with peripheral transcriptional activity and DNA-methylation profiles across several annotated gene sets. These findings broaden our understanding of the effects of the peripheral oxytocin system and provide novel genetic candidates for future studies to decode the complex etiology of ASD and its interaction with OT signaling and OT-based interventions. Lay Summary Oxytocin (OT) is an abundant chemical produced by neurons that plays an important role in social interaction and motivation. We investigated whether genetic and epigenetic factors contribute to variable OT levels in the blood. To this, we integrated genetic, gene expression, and non-DNA regulated (epigenetic) signatures with blood OT levels in 290 participants with autism enrolled in an OT clinical trial. We identified genetic association with plasma OT, several of which reside in known autism risk genes. We also show statistically significant association of plasma OT levels with gene expression and epigenetic across several gene pathways. These findings broaden our understanding of the factors that influence OT levels in the blood for future studies to decode the complex presentation of autism and its interaction with OT and OT-based treatment. En ligne : https://doi.org/10.1002/aur.2884 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=498 Open-Label Memantine in Fragile X Syndrome / Craig ERICKSON in Journal of Autism and Developmental Disorders, 39-12 (December 2009)
[article]
Titre : Open-Label Memantine in Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Craig ERICKSON, Auteur ; Christopher J. MCDOUGLE, Auteur ; Jennifer E. MULLETT, Auteur Année de publication : 2009 Article en page(s) : p.1629-1635 Langues : Anglais (eng) Mots-clés : Memantine Fragile-X-syndrome Inattention Hyperactivity Social-withdrawal Irritability Index. décimale : PER Périodiques Résumé : Glutamatergic dysfunction is implicated in the pathophysiology of fragile X syndrome (FXS). The purpose of this pilot study was to examine the effectiveness and tolerability of memantine for a number of target symptoms associated with FXS. Medical records describing open-label treatment with memantine in 6 patients with FXS and a comorbid diagnosis of PDD were reviewed. Six patients received memantine over a mean 34.7 weeks of treatment. Four of 6 (67%) patients showed global clinical benefit on ratings with the CGI-I. Symptom specific rating scales, however, showed no statistically significant improvement. Two patient developed treatment-limiting irritability on memantine. Memantine was modestly effective in several patients with FXS. Further systematic study is warranted. En ligne : http://dx.doi.org/10.1007/s10803-009-0807-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=883
in Journal of Autism and Developmental Disorders > 39-12 (December 2009) . - p.1629-1635[article] Open-Label Memantine in Fragile X Syndrome [Texte imprimé et/ou numérique] / Craig ERICKSON, Auteur ; Christopher J. MCDOUGLE, Auteur ; Jennifer E. MULLETT, Auteur . - 2009 . - p.1629-1635.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 39-12 (December 2009) . - p.1629-1635
Mots-clés : Memantine Fragile-X-syndrome Inattention Hyperactivity Social-withdrawal Irritability Index. décimale : PER Périodiques Résumé : Glutamatergic dysfunction is implicated in the pathophysiology of fragile X syndrome (FXS). The purpose of this pilot study was to examine the effectiveness and tolerability of memantine for a number of target symptoms associated with FXS. Medical records describing open-label treatment with memantine in 6 patients with FXS and a comorbid diagnosis of PDD were reviewed. Six patients received memantine over a mean 34.7 weeks of treatment. Four of 6 (67%) patients showed global clinical benefit on ratings with the CGI-I. Symptom specific rating scales, however, showed no statistically significant improvement. Two patient developed treatment-limiting irritability on memantine. Memantine was modestly effective in several patients with FXS. Further systematic study is warranted. En ligne : http://dx.doi.org/10.1007/s10803-009-0807-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=883 Parent Description of Anxiety in Angelman Syndrome / Christopher J. KEARY in Journal of Autism and Developmental Disorders, 52-8 (August 2022)
[article]
Titre : Parent Description of Anxiety in Angelman Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Christopher J. KEARY, Auteur ; Jennifer E. MULLETT, Auteur ; Lisa NOWINSKI, Auteur ; Karyn WAGNER, Auteur ; Briana WALSH, Auteur ; Hannah K. SARO, Auteur ; Gillian ERHABOR, Auteur ; Ronald L. THIBERT, Auteur ; Christopher J. MCDOUGLE, Auteur ; Caitlin T. RAVICHANDRAN, Auteur Article en page(s) : p.3612-3625 Langues : Anglais (eng) Mots-clés : Angelman Syndrome/diagnosis Anxiety Autism Spectrum Disorder Caregivers Child Humans Parents Psychiatric Status Rating Scales Angelman syndrome Hyperactivity Irritability Rating scale Index. décimale : PER Périodiques Résumé : Anxiety is being increasingly identified in Angelman syndrome (AS). Qualitative questions and quantitative assessments were used to evaluate for anxiety in 50 subjects with AS. In-person evaluations assessed behaviors concerning for anxiety and circumstances wherein they occurred. Caregivers completed anxiety and other behavioral rating scales. Caregiver responses were categorized and compared to items from anxiety rating scales. The most common behavioral manifestation of anxiety was "aggression." The most common circumstance was "separation from caregiver/parent." Subjects had elevated scores on anxiety, irritability and hyperactivity scales with lower mean scores among subjects with a maternal deletion. The Pediatric Anxiety Rating Scale best captured behaviors described by caregivers. Existing anxiety scales should be adapted for use in AS. En ligne : http://dx.doi.org/10.1007/s10803-021-05238-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485
in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3612-3625[article] Parent Description of Anxiety in Angelman Syndrome [Texte imprimé et/ou numérique] / Christopher J. KEARY, Auteur ; Jennifer E. MULLETT, Auteur ; Lisa NOWINSKI, Auteur ; Karyn WAGNER, Auteur ; Briana WALSH, Auteur ; Hannah K. SARO, Auteur ; Gillian ERHABOR, Auteur ; Ronald L. THIBERT, Auteur ; Christopher J. MCDOUGLE, Auteur ; Caitlin T. RAVICHANDRAN, Auteur . - p.3612-3625.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3612-3625
Mots-clés : Angelman Syndrome/diagnosis Anxiety Autism Spectrum Disorder Caregivers Child Humans Parents Psychiatric Status Rating Scales Angelman syndrome Hyperactivity Irritability Rating scale Index. décimale : PER Périodiques Résumé : Anxiety is being increasingly identified in Angelman syndrome (AS). Qualitative questions and quantitative assessments were used to evaluate for anxiety in 50 subjects with AS. In-person evaluations assessed behaviors concerning for anxiety and circumstances wherein they occurred. Caregivers completed anxiety and other behavioral rating scales. Caregiver responses were categorized and compared to items from anxiety rating scales. The most common behavioral manifestation of anxiety was "aggression." The most common circumstance was "separation from caregiver/parent." Subjects had elevated scores on anxiety, irritability and hyperactivity scales with lower mean scores among subjects with a maternal deletion. The Pediatric Anxiety Rating Scale best captured behaviors described by caregivers. Existing anxiety scales should be adapted for use in AS. En ligne : http://dx.doi.org/10.1007/s10803-021-05238-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485