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

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative / Monica E. CALKINS in Journal of Child Psychology and Psychiatry, 56-12 (December 2015)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 56-12 (December 2015) . - p.1356-1369 Titre : The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative Type de document : texte imprimé Auteurs : Monica E. CALKINS, Auteur ; Kathleen R. MERIKANGAS, Auteur ; Tyler M. MOORE, Auteur ; Marcy BURSTEIN, Auteur ; Meckenzie A. BEHR, Auteur ; Theodore D. SATTERTHWAITE, Auteur ; Kosha RUPAREL, Auteur ; Daniel H. WOLF, Auteur ; David R. ROALF, Auteur ; Frank D. MENTCH, Auteur ; Haijun QIU, Auteur ; Rosetta CHIAVACCI, Auteur ; John J. CONNOLLY, Auteur ; Patrick M.A. SLEIMAN, Auteur ; Ruben C. GUR, Auteur ; Hakon HAKONARSON, Auteur ; Raquel E. GUR, Auteur Article en page(s) : p.1356-1369 Langues : Anglais (eng) Mots-clés : Community cohort  children  adolescents  young adults  psychopathology  mood  anxiety  behavior  psychosis  comorbidity  structure  genomics  neuroimaging  neurocognition  public domain Index. décimale : PER Périodiques Résumé : Background An integrative multidisciplinary approach is required to elucidate the multiple factors that shape neurodevelopmental trajectories of mental disorders. The Philadelphia Neurodevelopmental Cohort (PNC), funded by the National Institute of Mental Health Grand Opportunity (GO) mechanism of the American Recovery and Reinvestment Act, was designed to characterize clinical and neurobehavioral phenotypes of genotyped youths. Data generated, which are recently available through the NIMH Database of Genotypes and Phenotypes (dbGaP), have garnered considerable interest. We provide an overview of PNC recruitment and clinical assessment methods to allow informed use and interpretation of the PNC resource by the scientific community. We also evaluate the structure of the assessment tools and their criterion validity. Methods Participants were recruited from a large pool of youths (n = 13,958) previously identified and genotyped at The Children's Hospital of Philadelphia. A comprehensive computerized tool for structured evaluation of psychopathology domains (GOASSESS) was constructed. We administered GOASSESS to all participants and used factor analysis to evaluate its structure. Results A total of 9,498 youths (aged 8–21; mean age = 14.2; European American = 55.8%; African American = 32.9%; Other = 11.4%) were enrolled. Factor analysis revealed a strong general psychopathology factor, and specific ‘anxious-misery’, ‘fear’, and ‘behavior’ factors. The ‘behavior’ factor had a small negative correlation (−0.21) with overall accuracy of neurocognitive performance, particularly in tests of executive and complex reasoning. Being female had a high association with the ‘anxious-misery’ and low association with the ‘behavior’ factors. The psychosis spectrum was also best characterized by a general factor and three specific factors: ideas about ‘special abilities/persecution,’ ‘unusual thoughts/perceptions’, and ‘negative/disorganized’ symptoms. Conclusions The PNC assessment mechanism yielded psychopathology data with strong factorial validity in a large diverse community cohort of genotyped youths. Factor scores should be useful for dimensional integration with other modalities (neuroimaging, genomics). Thus, PNC public domain resources can advance understanding of complex inter-relationships among genes, cognition, brain, and behavior involved in neurodevelopment of common mental disorders. En ligne : http://dx.doi.org/10.1111/jcpp.12416 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=273 [article] The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative [texte imprimé] / Monica E. CALKINS, Auteur ; Kathleen R. MERIKANGAS, Auteur ; Tyler M. MOORE, Auteur ; Marcy BURSTEIN, Auteur ; Meckenzie A. BEHR, Auteur ; Theodore D. SATTERTHWAITE, Auteur ; Kosha RUPAREL, Auteur ; Daniel H. WOLF, Auteur ; David R. ROALF, Auteur ; Frank D. MENTCH, Auteur ; Haijun QIU, Auteur ; Rosetta CHIAVACCI, Auteur ; John J. CONNOLLY, Auteur ; Patrick M.A. SLEIMAN, Auteur ; Ruben C. GUR, Auteur ; Hakon HAKONARSON, Auteur ; Raquel E. GUR, Auteur . - p.1356-1369. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 56-12 (December 2015) . - p.1356-1369 Mots-clés : Community cohort  children  adolescents  young adults  psychopathology  mood  anxiety  behavior  psychosis  comorbidity  structure  genomics  neuroimaging  neurocognition  public domain Index. décimale : PER Périodiques Résumé : Background An integrative multidisciplinary approach is required to elucidate the multiple factors that shape neurodevelopmental trajectories of mental disorders. The Philadelphia Neurodevelopmental Cohort (PNC), funded by the National Institute of Mental Health Grand Opportunity (GO) mechanism of the American Recovery and Reinvestment Act, was designed to characterize clinical and neurobehavioral phenotypes of genotyped youths. Data generated, which are recently available through the NIMH Database of Genotypes and Phenotypes (dbGaP), have garnered considerable interest. We provide an overview of PNC recruitment and clinical assessment methods to allow informed use and interpretation of the PNC resource by the scientific community. We also evaluate the structure of the assessment tools and their criterion validity. Methods Participants were recruited from a large pool of youths (n = 13,958) previously identified and genotyped at The Children's Hospital of Philadelphia. A comprehensive computerized tool for structured evaluation of psychopathology domains (GOASSESS) was constructed. We administered GOASSESS to all participants and used factor analysis to evaluate its structure. Results A total of 9,498 youths (aged 8–21; mean age = 14.2; European American = 55.8%; African American = 32.9%; Other = 11.4%) were enrolled. Factor analysis revealed a strong general psychopathology factor, and specific ‘anxious-misery’, ‘fear’, and ‘behavior’ factors. The ‘behavior’ factor had a small negative correlation (−0.21) with overall accuracy of neurocognitive performance, particularly in tests of executive and complex reasoning. Being female had a high association with the ‘anxious-misery’ and low association with the ‘behavior’ factors. The psychosis spectrum was also best characterized by a general factor and three specific factors: ideas about ‘special abilities/persecution,’ ‘unusual thoughts/perceptions’, and ‘negative/disorganized’ symptoms. Conclusions The PNC assessment mechanism yielded psychopathology data with strong factorial validity in a large diverse community cohort of genotyped youths. Factor scores should be useful for dimensional integration with other modalities (neuroimaging, genomics). Thus, PNC public domain resources can advance understanding of complex inter-relationships among genes, cognition, brain, and behavior involved in neurodevelopment of common mental disorders. En ligne : http://dx.doi.org/10.1111/jcpp.12416 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=273

The Unique Roles of Executive Function in Co-Occurring Psychopathologies in Autism / Shing-Him NG in Autism Research, 19-8 (August 2026)  

Public ISBD [article]  inAutism Research > 19-8 (August 2026) . - p.e70296 Titre : The Unique Roles of Executive Function in Co-Occurring Psychopathologies in Autism Type de document : texte imprimé Auteurs : Shing-Him NG, Auteur ; Jet LEUNG, Auteur ; Keith Chun Lok LEE, Auteur ; Angela Man Wai LAM, Auteur ; Isaac Ho Wai WONG, Auteur ; Sze-Mai NG, Auteur ; Maciej GABRYSIAK, Auteur ; Petrina Yau Pok LAU, Auteur ; Sandra Sau Man CHAN, Auteur ; Tyler M. MOORE, Auteur ; Kosha RUPAREL, Auteur ; Raquel E. GUR, Auteur ; Ruben C. GUR, Auteur ; Oscar Wing Ho WONG, Auteur Article en page(s) : p.e70296 Langues : Anglais (eng) Mots-clés : ADHD  anxiety  autism  cognition  executive function Index. décimale : PER Périodiques Résumé : ABSTRACT Children with autism spectrum disorder (ASD) often experience co-occurring psychiatric conditions, such as anxiety and attention-deficit/hyperactivity disorder (ADHD), which significantly impair daily functioning. However, the underlying mechanisms linking these conditions to core ASD features remain poorly understood. This study examined relationships between anxiety, ADHD symptoms, and multi-domain neurocognitive abilities in a clinic-based sample of 701 Chinese children with ASD (mean age 8?years, 13.4% female), using the Hong Kong version of the Penn Computerized Neurocognitive Battery. Initial correlations revealed negative associations between cognitive performance and ADHD symptoms, but no direct links with anxiety. Ordinal regression demonstrated that poorer executive function (EF) independently predicted greater ADHD severity along a continuum from no ADHD to subclinical features to co-occurring ADHD, in a dose-dependent manner, even after controlling for core autism symptoms, other cognitive domains, and full-scale IQ. Moderation analyses showed that stronger EF specifically buffered the associations between sensory hyper-responsiveness/sensory-seeking and anxiety symptoms?an effect not seen with other cognitive domains or full-scale IQ. These findings indicate that EF plays a unique, compensatory role in modulating the two most common co-occurring psychopathologies in ASD. Systematic assessment of EF could support early risk stratification, while EF-targeted interventions may help mitigate the burden of ADHD and anxiety in children with ASD. En ligne : https://doi.org/10.1002/aur.70296 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=589 [article] The Unique Roles of Executive Function in Co-Occurring Psychopathologies in Autism [texte imprimé] / Shing-Him NG, Auteur ; Jet LEUNG, Auteur ; Keith Chun Lok LEE, Auteur ; Angela Man Wai LAM, Auteur ; Isaac Ho Wai WONG, Auteur ; Sze-Mai NG, Auteur ; Maciej GABRYSIAK, Auteur ; Petrina Yau Pok LAU, Auteur ; Sandra Sau Man CHAN, Auteur ; Tyler M. MOORE, Auteur ; Kosha RUPAREL, Auteur ; Raquel E. GUR, Auteur ; Ruben C. GUR, Auteur ; Oscar Wing Ho WONG, Auteur . - p.e70296. Langues : Anglais (eng) in Autism Research > 19-8 (August 2026) . - p.e70296 Mots-clés : ADHD  anxiety  autism  cognition  executive function Index. décimale : PER Périodiques Résumé : ABSTRACT Children with autism spectrum disorder (ASD) often experience co-occurring psychiatric conditions, such as anxiety and attention-deficit/hyperactivity disorder (ADHD), which significantly impair daily functioning. However, the underlying mechanisms linking these conditions to core ASD features remain poorly understood. This study examined relationships between anxiety, ADHD symptoms, and multi-domain neurocognitive abilities in a clinic-based sample of 701 Chinese children with ASD (mean age 8?years, 13.4% female), using the Hong Kong version of the Penn Computerized Neurocognitive Battery. Initial correlations revealed negative associations between cognitive performance and ADHD symptoms, but no direct links with anxiety. Ordinal regression demonstrated that poorer executive function (EF) independently predicted greater ADHD severity along a continuum from no ADHD to subclinical features to co-occurring ADHD, in a dose-dependent manner, even after controlling for core autism symptoms, other cognitive domains, and full-scale IQ. Moderation analyses showed that stronger EF specifically buffered the associations between sensory hyper-responsiveness/sensory-seeking and anxiety symptoms?an effect not seen with other cognitive domains or full-scale IQ. These findings indicate that EF plays a unique, compensatory role in modulating the two most common co-occurring psychopathologies in ASD. Systematic assessment of EF could support early risk stratification, while EF-targeted interventions may help mitigate the burden of ADHD and anxiety in children with ASD. En ligne : https://doi.org/10.1002/aur.70296 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=589

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