Parent Description of Anxiety in Angelman Syndrome / Christopher J. KEARY in Journal of Autism and Developmental Disorders, 52-8 (August 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3612-3625 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 [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

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature / Nora URRACA in Autism Research, 6-4 (August 2013)  

Public ISBD [article]  inAutism Research > 6-4 (August 2013) . - p.268-279 Titre : The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature Type de document : Texte imprimé et/ou numérique Auteurs : Nora URRACA, Auteur ; Julie CLEARY, Auteur ; Victoria BREWER, Auteur ; Eniko K. PIVNICK, Auteur ; Kathryn MCVICAR, Auteur ; Ronald L. THIBERT, Auteur ; N. Carolyn SCHANEN, Auteur ; Carmen ESMER, Auteur ; Dustin LAMPORT, Auteur ; Lawrence T. REITER, Auteur Article en page(s) : p.268-279 Langues : Anglais (eng) Mots-clés : autism  15q duplication  imprinting  copy number variation  UBE3A Index. décimale : PER Périodiques Résumé : Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. En ligne : http://dx.doi.org/10.1002/aur.1284 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212 [article] The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature [Texte imprimé et/ou numérique] / Nora URRACA, Auteur ; Julie CLEARY, Auteur ; Victoria BREWER, Auteur ; Eniko K. PIVNICK, Auteur ; Kathryn MCVICAR, Auteur ; Ronald L. THIBERT, Auteur ; N. Carolyn SCHANEN, Auteur ; Carmen ESMER, Auteur ; Dustin LAMPORT, Auteur ; Lawrence T. REITER, Auteur . - p.268-279. Langues : Anglais (eng) in Autism Research > 6-4 (August 2013) . - p.268-279 Mots-clés : autism  15q duplication  imprinting  copy number variation  UBE3A Index. décimale : PER Périodiques Résumé : Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. En ligne : http://dx.doi.org/10.1002/aur.1284 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212

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