22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / Tara L. WENGER in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 27p. Titre : 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening Type de document : texte imprimé Auteurs : Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening [texte imprimé] / Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 27p. Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders / David R. ROALF in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders Type de document : texte imprimé Auteurs : David R. ROALF, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Joelle JEE, Auteur ; Mckenna KRALL, Auteur ; T Blaine CROWLEY, Auteur ; Paul J. MOBERG, Auteur ; Christian KOHLER, Auteur ; Monica E. CALKINS, Auteur ; Andrew J.D. CROW, Auteur ; Nicole FLEISCHER, Auteur ; R. Sean GALLAGHER, Auteur ; Virgilio GONZENBACH, Auteur ; Kelly CLARK, Auteur ; Ruben C. GUR, Auteur ; Emily MCCLELLAN, Auteur ; Daniel E. MCGINN, Auteur ; Arianna MORDY, Auteur ; Kosha RUPAREL, Auteur ; Bruce I. TURETSKY, Auteur ; Russell T. SHINOHARA, Auteur ; Lauren WHITE, Auteur ; Elaine ZACKAI, Auteur ; Raquel E. GUR, Auteur Langues : Anglais (eng) Mots-clés : Humans  DiGeorge Syndrome/genetics/physiopathology  Psychotic Disorders/genetics  Female  Male  Adolescent  Child  Craniofacial Abnormalities/genetics  Young Adult  Adult  Machine Learning  Image Processing, Computer-Assisted  22q11.2 deletion syndrome  Clinical high-risk psychosis  Computer-vision  Face  Minor physical anomalies  Psychosis  Schizophrenia  to provide F2G Gestalt data for facial photographs. She was not involved in  project design, implementation, or data analysis. She reviewed and edited the  final manuscript. No other authors have any competing interest to report. Index. décimale : PER Périodiques Résumé : BACKGROUND: Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (PS) and likely represent a disruption of early embryologic development that may help identify overlapping mechanisms linked to psychosis in these disorders. METHODS: Here, 2D digital photographs were collected from 22q11DS (n = 150), PS (n = 55), and typically developing (TD; n = 93) individuals. Photographs were analyzed using two computer-vision techniques: (1) DeepGestalt algorithm (Face2Gene (F2G)) technology to identify the presence of genetically mediated facial disorders, and (2) Emotrics-a semi-automated machine learning technique that localizes and measures facial features. RESULTS: F2G reliably identified patients with 22q11DS; faces of PS patients were matched to several genetic conditions including FragileX and 22q11DS. PCA-derived factor loadings of all F2G scores indicated unique and overlapping facial patterns that were related to both 22q11DS and PS. Regional facial measurements of the eyes and nose were smaller in 22q11DS as compared to TD, while PS showed intermediate measurements. CONCLUSIONS: The extent to which craniofacial dysmorphology 22q11DS and PS overlapping and evident before the impairment or distress of sub-psychotic symptoms may allow us to identify at-risk youths more reliably and at an earlier stage of development. En ligne : https://dx.doi.org/10.1186/s11689-024-09547-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders [texte imprimé] / David R. ROALF, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Joelle JEE, Auteur ; Mckenna KRALL, Auteur ; T Blaine CROWLEY, Auteur ; Paul J. MOBERG, Auteur ; Christian KOHLER, Auteur ; Monica E. CALKINS, Auteur ; Andrew J.D. CROW, Auteur ; Nicole FLEISCHER, Auteur ; R. Sean GALLAGHER, Auteur ; Virgilio GONZENBACH, Auteur ; Kelly CLARK, Auteur ; Ruben C. GUR, Auteur ; Emily MCCLELLAN, Auteur ; Daniel E. MCGINN, Auteur ; Arianna MORDY, Auteur ; Kosha RUPAREL, Auteur ; Bruce I. TURETSKY, Auteur ; Russell T. SHINOHARA, Auteur ; Lauren WHITE, Auteur ; Elaine ZACKAI, Auteur ; Raquel E. GUR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  DiGeorge Syndrome/genetics/physiopathology  Psychotic Disorders/genetics  Female  Male  Adolescent  Child  Craniofacial Abnormalities/genetics  Young Adult  Adult  Machine Learning  Image Processing, Computer-Assisted  22q11.2 deletion syndrome  Clinical high-risk psychosis  Computer-vision  Face  Minor physical anomalies  Psychosis  Schizophrenia  to provide F2G Gestalt data for facial photographs. She was not involved in  project design, implementation, or data analysis. She reviewed and edited the  final manuscript. No other authors have any competing interest to report. Index. décimale : PER Périodiques Résumé : BACKGROUND: Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (PS) and likely represent a disruption of early embryologic development that may help identify overlapping mechanisms linked to psychosis in these disorders. METHODS: Here, 2D digital photographs were collected from 22q11DS (n = 150), PS (n = 55), and typically developing (TD; n = 93) individuals. Photographs were analyzed using two computer-vision techniques: (1) DeepGestalt algorithm (Face2Gene (F2G)) technology to identify the presence of genetically mediated facial disorders, and (2) Emotrics-a semi-automated machine learning technique that localizes and measures facial features. RESULTS: F2G reliably identified patients with 22q11DS; faces of PS patients were matched to several genetic conditions including FragileX and 22q11DS. PCA-derived factor loadings of all F2G scores indicated unique and overlapping facial patterns that were related to both 22q11DS and PS. Regional facial measurements of the eyes and nose were smaller in 22q11DS as compared to TD, while PS showed intermediate measurements. CONCLUSIONS: The extent to which craniofacial dysmorphology 22q11DS and PS overlapping and evident before the impairment or distress of sub-psychotic symptoms may allow us to identify at-risk youths more reliably and at an earlier stage of development. En ligne : https://dx.doi.org/10.1186/s11689-024-09547-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder / Caitlin C. CLEMENTS in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 58p. Titre : Critical region within 22q11.2 linked to higher rate of autism spectrum disorder Type de document : texte imprimé Auteurs : Caitlin C. CLEMENTS, Auteur ; Tara L. WENGER, Auteur ; Alisa R. ZOLTOWSKI, Auteur ; Jennifer R. BERTOLLO, Auteur ; Judith S. MILLER, Auteur ; Ashley B. DE MARCHENA, Auteur ; Lauren M. MITTEER, Auteur ; John C. CAREY, Auteur ; Benjamin E. YERYS, Auteur ; Elaine H. ZACKAI, Auteur ; Beverly S. EMANUEL, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 58p. Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  22q11.2 duplication syndrome  Atypical  Autism spectrum disorder  Face processing  Nested  Prosopagnosia  Ranbp1  Screening  Syndromic autism Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. RESULTS: Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. CONCLUSIONS: Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. En ligne : http://dx.doi.org/10.1186/s13229-017-0171-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] Critical region within 22q11.2 linked to higher rate of autism spectrum disorder [texte imprimé] / Caitlin C. CLEMENTS, Auteur ; Tara L. WENGER, Auteur ; Alisa R. ZOLTOWSKI, Auteur ; Jennifer R. BERTOLLO, Auteur ; Judith S. MILLER, Auteur ; Ashley B. DE MARCHENA, Auteur ; Lauren M. MITTEER, Auteur ; John C. CAREY, Auteur ; Benjamin E. YERYS, Auteur ; Elaine H. ZACKAI, Auteur ; Beverly S. EMANUEL, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 58p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 58p. Mots-clés : 22q11.2 deletion syndrome  22q11.2 duplication syndrome  Atypical  Autism spectrum disorder  Face processing  Nested  Prosopagnosia  Ranbp1  Screening  Syndromic autism Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. RESULTS: Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. CONCLUSIONS: Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. En ligne : http://dx.doi.org/10.1186/s13229-017-0171-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / Tara L. WENGER in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 34p. Titre : Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening Type de document : texte imprimé Auteurs : Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 34p. Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-016-0097-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening [texte imprimé] / Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 34p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 34p. Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-016-0097-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome / Tyler M. MOORE in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome Type de document : texte imprimé Auteurs : Tyler M. MOORE, Auteur ; Deby SALZER, Auteur ; Carrie E. BEARDEN, Auteur ; Monica E. CALKINS, Auteur ; Wendy R. KATES, Auteur ; Leila KUSHAN, Auteur ; Robert Sean GALLAGHER, Auteur ; Dafna Sofrin FRUMER, Auteur ; Ronnie WEINBERGER, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Raquel E. GUR, Auteur ; Doron GOTHELF, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  DiGeorge Syndrome  Female  Humans  Male  Marfan Syndrome  Psychotic Disorders  Reproducibility of Results  Young Adult  DiGeorge  Inter-rater reliability  Psychosis risk syndrome  Scale of Prodromal Symptoms (SOPS)  Structured Interview for Prodromal Syndromes (SIPS)  Subthreshold psychotic symptoms  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Pathways leading to psychosis in 22q11.2 deletion syndrome (22q11.2DS) have been the focus of intensive research during the last two decades. One of the common clinical risk factors for the evolution of psychosis in 22q11.2DS is the presence of positive and negative subthreshold psychotic symptoms. The gold standard for measuring subthreshold symptoms is the Structured Interview for Prodromal Syndromes (SIPS) and its accompanying Scale of Prodromal Symptoms (SOPS) ratings. Although the scale has been used by many centers studying 22q11.2DS, the inter-site reliability of the scale in this population has never been established. METHODS: In the present study, experienced clinical assessors from three large international centers studying 22q11.2DS independently rated video recordings of 18 adolescents and young adults with 22q11.2DS. RESULTS: The intraclass correlations coefficients (ICCs) among three raters for the SOPS total scores, as well as for the positive, negative, and disorganization subscale scores, were good-to-excellent (ICCs range 0.73-0.93). The raters were also able to reliably determine the subjects' subthreshold syndrome status (ICC = 0.71). The reliability of individual items was good-to-excellent for all items, ranging from 0.61 for motor disturbances [G3] to 0.95 for bizarre thinking. CONCLUSIONS: Our results show that trained clinicians can reliably screen for subthreshold psychotic symptoms in individuals with 22q11.2DS. To increase assessment reliability, we suggest specific clarifications and simplifications to the standard SIPS interview for future studies. En ligne : https://dx.doi.org/10.1186/s11689-021-09372-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome [texte imprimé] / Tyler M. MOORE, Auteur ; Deby SALZER, Auteur ; Carrie E. BEARDEN, Auteur ; Monica E. CALKINS, Auteur ; Wendy R. KATES, Auteur ; Leila KUSHAN, Auteur ; Robert Sean GALLAGHER, Auteur ; Dafna Sofrin FRUMER, Auteur ; Ronnie WEINBERGER, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Raquel E. GUR, Auteur ; Doron GOTHELF, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  DiGeorge Syndrome  Female  Humans  Male  Marfan Syndrome  Psychotic Disorders  Reproducibility of Results  Young Adult  DiGeorge  Inter-rater reliability  Psychosis risk syndrome  Scale of Prodromal Symptoms (SOPS)  Structured Interview for Prodromal Syndromes (SIPS)  Subthreshold psychotic symptoms  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Pathways leading to psychosis in 22q11.2 deletion syndrome (22q11.2DS) have been the focus of intensive research during the last two decades. One of the common clinical risk factors for the evolution of psychosis in 22q11.2DS is the presence of positive and negative subthreshold psychotic symptoms. The gold standard for measuring subthreshold symptoms is the Structured Interview for Prodromal Syndromes (SIPS) and its accompanying Scale of Prodromal Symptoms (SOPS) ratings. Although the scale has been used by many centers studying 22q11.2DS, the inter-site reliability of the scale in this population has never been established. METHODS: In the present study, experienced clinical assessors from three large international centers studying 22q11.2DS independently rated video recordings of 18 adolescents and young adults with 22q11.2DS. RESULTS: The intraclass correlations coefficients (ICCs) among three raters for the SOPS total scores, as well as for the positive, negative, and disorganization subscale scores, were good-to-excellent (ICCs range 0.73-0.93). The raters were also able to reliably determine the subjects' subthreshold syndrome status (ICC = 0.71). The reliability of individual items was good-to-excellent for all items, ranging from 0.61 for motor disturbances [G3] to 0.95 for bizarre thinking. CONCLUSIONS: Our results show that trained clinicians can reliably screen for subthreshold psychotic symptoms in individuals with 22q11.2DS. To increase assessment reliability, we suggest specific clarifications and simplifications to the standard SIPS interview for future studies. En ligne : https://dx.doi.org/10.1186/s11689-021-09372-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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