Digital Behavioral Phenotyping Detects Atypical Pattern of Facial Expression in Toddlers with Autism / Kimberly L. H. CARPENTER in Autism Research, 14-3 (March 2021)  

Public ISBD [article]  inAutism Research > 14-3 (March 2021) . - p.488-499 Titre : Digital Behavioral Phenotyping Detects Atypical Pattern of Facial Expression in Toddlers with Autism Type de document : Texte imprimé et/ou numérique Auteurs : Kimberly L. H. CARPENTER, Auteur ; Jordan HAHEMI, Auteur ; Kathleen CAMPBELL, Auteur ; Steven J. LIPPMANN, Auteur ; Jeffrey P. BAKER, Auteur ; Helen L. EGGER, Auteur ; Steven ESPINOSA, Auteur ; Saritha VERMEER, Auteur ; Guillermo SAPIRO, Auteur ; Geraldine DAWSON, Auteur Article en page(s) : p.488-499 Langues : Anglais (eng) Mots-clés : autism  computer vision  early detection  facial expressions  risk behaviors  Amazon, Google, Cisco, and Microsoft and is a consultant for Apple and Volvo.  Geraldine Dawson is on the Scientific Advisory Boards of Janssen Research and  Development, Akili, Inc., LabCorp, Inc., Tris Pharma, and Roche Pharmaceutical  Company, a consultant for Apple, Inc, Gerson Lehrman Group, Guidepoint, Inc., Teva  Pharmaceuticals, and Axial Ventures, has received grant funding from Janssen  Research and Development, and is CEO of DASIO, LLC (with Guillermo Sapiro). Dawson  receives royalties from Guilford Press, Springer, and Oxford University Press.  Dawson, Sapiro, Carpenter, Hashemi, Campbell, Espinosa, Baker, and Egger helped  develop aspects of the technology that is being used in the study. The technology  has been licensed and Dawson, Sapiro, Carpenter, Hashemi, Espinosa, Baker, Egger,  and Duke University have benefited financially. Index. décimale : PER Périodiques Résumé : Commonly used screening tools for autism spectrum disorder (ASD) generally rely on subjective caregiver questionnaires. While behavioral observation is more objective, it is also expensive, time-consuming, and requires significant expertise to perform. As such, there remains a critical need to develop feasible, scalable, and reliable tools that can characterize ASD risk behaviors. This study assessed the utility of a tablet-based behavioral assessment for eliciting and detecting one type of risk behavior, namely, patterns of facial expression, in 104 toddlers (ASD N =?22) and evaluated whether such patterns differentiated toddlers with and without ASD. The assessment consisted of the child sitting on his/her caregiver's lap and watching brief movies shown on a smart tablet while the embedded camera recorded the child's facial expressions. Computer vision analysis (CVA) automatically detected and tracked facial landmarks, which were used to estimate head position and facial expressions (Positive, Neutral, All Other). Using CVA, specific points throughout the movies were identified that reliably differentiate between children with and without ASD based on their patterns of facial movement and expressions (area under the curves for individual movies ranging from 0.62 to 0.73). During these instances, children with ASD more frequently displayed Neutral expressions compared to children without ASD, who had more All Other expressions. The frequency of All Other expressions was driven by non-ASD children more often displaying raised eyebrows and an open mouth, characteristic of engagement/interest. Preliminary results suggest computational coding of facial movements and expressions via a tablet-based assessment can detect differences in affective expression, one of the early, core features of ASD. LAY SUMMARY: This study tested the use of a tablet in the behavioral assessment of young children with autism. Children watched a series of developmentally appropriate movies and their facial expressions were recorded using the camera embedded in the tablet. Results suggest that computational assessments of facial expressions may be useful in early detection of symptoms of autism. En ligne : http://dx.doi.org/10.1002/aur.2391 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443 [article] Digital Behavioral Phenotyping Detects Atypical Pattern of Facial Expression in Toddlers with Autism [Texte imprimé et/ou numérique] / Kimberly L. H. CARPENTER, Auteur ; Jordan HAHEMI, Auteur ; Kathleen CAMPBELL, Auteur ; Steven J. LIPPMANN, Auteur ; Jeffrey P. BAKER, Auteur ; Helen L. EGGER, Auteur ; Steven ESPINOSA, Auteur ; Saritha VERMEER, Auteur ; Guillermo SAPIRO, Auteur ; Geraldine DAWSON, Auteur . - p.488-499. Langues : Anglais (eng) in Autism Research > 14-3 (March 2021) . - p.488-499 Mots-clés : autism  computer vision  early detection  facial expressions  risk behaviors  Amazon, Google, Cisco, and Microsoft and is a consultant for Apple and Volvo.  Geraldine Dawson is on the Scientific Advisory Boards of Janssen Research and  Development, Akili, Inc., LabCorp, Inc., Tris Pharma, and Roche Pharmaceutical  Company, a consultant for Apple, Inc, Gerson Lehrman Group, Guidepoint, Inc., Teva  Pharmaceuticals, and Axial Ventures, has received grant funding from Janssen  Research and Development, and is CEO of DASIO, LLC (with Guillermo Sapiro). Dawson  receives royalties from Guilford Press, Springer, and Oxford University Press.  Dawson, Sapiro, Carpenter, Hashemi, Campbell, Espinosa, Baker, and Egger helped  develop aspects of the technology that is being used in the study. The technology  has been licensed and Dawson, Sapiro, Carpenter, Hashemi, Espinosa, Baker, Egger,  and Duke University have benefited financially. Index. décimale : PER Périodiques Résumé : Commonly used screening tools for autism spectrum disorder (ASD) generally rely on subjective caregiver questionnaires. While behavioral observation is more objective, it is also expensive, time-consuming, and requires significant expertise to perform. As such, there remains a critical need to develop feasible, scalable, and reliable tools that can characterize ASD risk behaviors. This study assessed the utility of a tablet-based behavioral assessment for eliciting and detecting one type of risk behavior, namely, patterns of facial expression, in 104 toddlers (ASD N =?22) and evaluated whether such patterns differentiated toddlers with and without ASD. The assessment consisted of the child sitting on his/her caregiver's lap and watching brief movies shown on a smart tablet while the embedded camera recorded the child's facial expressions. Computer vision analysis (CVA) automatically detected and tracked facial landmarks, which were used to estimate head position and facial expressions (Positive, Neutral, All Other). Using CVA, specific points throughout the movies were identified that reliably differentiate between children with and without ASD based on their patterns of facial movement and expressions (area under the curves for individual movies ranging from 0.62 to 0.73). During these instances, children with ASD more frequently displayed Neutral expressions compared to children without ASD, who had more All Other expressions. The frequency of All Other expressions was driven by non-ASD children more often displaying raised eyebrows and an open mouth, characteristic of engagement/interest. Preliminary results suggest computational coding of facial movements and expressions via a tablet-based assessment can detect differences in affective expression, one of the early, core features of ASD. LAY SUMMARY: This study tested the use of a tablet in the behavioral assessment of young children with autism. Children watched a series of developmentally appropriate movies and their facial expressions were recorded using the camera embedded in the tablet. Results suggest that computational assessments of facial expressions may be useful in early detection of symptoms of autism. En ligne : http://dx.doi.org/10.1002/aur.2391 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443

Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms / Eric COURCHESNE in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 22p. Titre : Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms Type de document : Texte imprimé et/ou numérique Auteurs : Eric COURCHESNE, Auteur ; Vani TALUJA, Auteur ; Sanaz NAZARI, Auteur ; Caitlin M. AAMODT, Auteur ; Karen PIERCE, Auteur ; Kuaikuai DUAN, Auteur ; Sunny STOPHAEROS, Auteur ; Linda LOPEZ, Auteur ; Cynthia Carter BARNES, Auteur ; Jaden TROXEL, Auteur ; Kathleen CAMPBELL, Auteur ; Tianyun WANG, Auteur ; Kendra HOEKZEMA, Auteur ; Evan E. EICHLER, Auteur ; Joao V. NANI, Auteur ; Wirla PONTES, Auteur ; Sandra SANCHEZ, Auteur ; Michael V. LOMBARDO, Auteur ; Janaina S. DE SOUZA, Auteur ; Mirian A. F. HAYASHI, Auteur ; Alysson R. MUOTRI, Auteur Article en page(s) : 22p. Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/pathology/physiopathology  Organoids/pathology  Male  Female  Child, Preschool  Cerebral Cortex/pathology  Social Behavior  Organ Size  Infant  Severity of Illness Index  Brain/pathology Index. décimale : PER Périodiques Résumé : BACKGROUND: Social affective and communication symptoms are central to autism spectrum disorder (ASD), yet their severity differs across toddlers: Some toddlers with ASD display improving abilities across early ages and develop good social and language skills, while others with "profound" autism have persistently low social, language and cognitive skills and require lifelong care. The biological origins of these opposite ASD social severity subtypes and developmental trajectories are not known. METHODS: Because ASD involves early brain overgrowth and excess neurons, we measured size and growth in 4910 embryonic-stage brain cortical organoids (BCOs) from a total of 10 toddlers with ASD and 6 controls (averaging 196 individual BCOs measured/subject). In a 2021 batch, we measured BCOs from 10 ASD and 5 controls. In a 2022 batch, we  tested replicability of BCO size and growth effects by generating and measuring an independent batch of BCOs from 6 ASD and 4 control subjects. BCO size was analyzed within the context of our large, one-of-a-kind social symptom, social attention, social brain and social and language psychometric normative datasets ranging from N = 266 to N = 1902 toddlers. BCO growth rates were examined by measuring size changes between 1- and 2-months of organoid development. Neurogenesis markers at 2-months were examined at the cellular level. At the molecular level, we measured activity and expression of Ndel1; Ndel1 is a prime target for cell cycle-activated kinases; known to regulate cell cycle, proliferation, neurogenesis, and growth; and known to be involved in neuropsychiatric conditions. RESULTS: At the BCO level, analyses showed BCO size was significantly enlarged by 39% and 41% in ASD in the 2021 and 2022 batches. The larger the embryonic BCO size, the more severe the ASD social symptoms. Correlations between BCO size and social symptoms were r = 0.719 in the 2021 batch and r = 0. 873 in the replication 2022 batch. ASD BCOs grew at an accelerated rate nearly 3 times faster than controls. At the cell level, the two largest ASD BCOs had accelerated neurogenesis. At the molecular level, Ndel1 activity was highly correlated with the growth rate and size of BCOs. Two BCO subtypes were found in ASD toddlers: Those in one subtype had very enlarged BCO size with accelerated rate of growth and neurogenesis; a profound autism clinical phenotype displaying severe social symptoms, reduced social attention, reduced cognitive, very low language and social IQ; and substantially altered growth in specific cortical social, language and sensory regions. Those in a second subtype had milder BCO enlargement and milder social, attention, cognitive, language and cortical differences. LIMITATIONS: Larger samples of ASD toddler-derived BCO and clinical phenotypes may reveal additional ASD embryonic subtypes. CONCLUSIONS: By embryogenesis, the biological bases of two subtypes of ASD social and brain development-profound autism and mild autism-are already present and measurable and involve dysregulated cell proliferation and accelerated neurogenesis and growth. The larger the embryonic BCO size in ASD, the more severe the toddler's social symptoms and the more reduced the social attention, language ability, and IQ, and the more atypical the growth of social and language brain regions. En ligne : https://dx.doi.org/10.1186/s13229-024-00602-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms [Texte imprimé et/ou numérique] / Eric COURCHESNE, Auteur ; Vani TALUJA, Auteur ; Sanaz NAZARI, Auteur ; Caitlin M. AAMODT, Auteur ; Karen PIERCE, Auteur ; Kuaikuai DUAN, Auteur ; Sunny STOPHAEROS, Auteur ; Linda LOPEZ, Auteur ; Cynthia Carter BARNES, Auteur ; Jaden TROXEL, Auteur ; Kathleen CAMPBELL, Auteur ; Tianyun WANG, Auteur ; Kendra HOEKZEMA, Auteur ; Evan E. EICHLER, Auteur ; Joao V. NANI, Auteur ; Wirla PONTES, Auteur ; Sandra SANCHEZ, Auteur ; Michael V. LOMBARDO, Auteur ; Janaina S. DE SOUZA, Auteur ; Mirian A. F. HAYASHI, Auteur ; Alysson R. MUOTRI, Auteur . - 22p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 22p. Mots-clés : Humans  Autism Spectrum Disorder/pathology/physiopathology  Organoids/pathology  Male  Female  Child, Preschool  Cerebral Cortex/pathology  Social Behavior  Organ Size  Infant  Severity of Illness Index  Brain/pathology Index. décimale : PER Périodiques Résumé : BACKGROUND: Social affective and communication symptoms are central to autism spectrum disorder (ASD), yet their severity differs across toddlers: Some toddlers with ASD display improving abilities across early ages and develop good social and language skills, while others with "profound" autism have persistently low social, language and cognitive skills and require lifelong care. The biological origins of these opposite ASD social severity subtypes and developmental trajectories are not known. METHODS: Because ASD involves early brain overgrowth and excess neurons, we measured size and growth in 4910 embryonic-stage brain cortical organoids (BCOs) from a total of 10 toddlers with ASD and 6 controls (averaging 196 individual BCOs measured/subject). In a 2021 batch, we measured BCOs from 10 ASD and 5 controls. In a 2022 batch, we  tested replicability of BCO size and growth effects by generating and measuring an independent batch of BCOs from 6 ASD and 4 control subjects. BCO size was analyzed within the context of our large, one-of-a-kind social symptom, social attention, social brain and social and language psychometric normative datasets ranging from N = 266 to N = 1902 toddlers. BCO growth rates were examined by measuring size changes between 1- and 2-months of organoid development. Neurogenesis markers at 2-months were examined at the cellular level. At the molecular level, we measured activity and expression of Ndel1; Ndel1 is a prime target for cell cycle-activated kinases; known to regulate cell cycle, proliferation, neurogenesis, and growth; and known to be involved in neuropsychiatric conditions. RESULTS: At the BCO level, analyses showed BCO size was significantly enlarged by 39% and 41% in ASD in the 2021 and 2022 batches. The larger the embryonic BCO size, the more severe the ASD social symptoms. Correlations between BCO size and social symptoms were r = 0.719 in the 2021 batch and r = 0. 873 in the replication 2022 batch. ASD BCOs grew at an accelerated rate nearly 3 times faster than controls. At the cell level, the two largest ASD BCOs had accelerated neurogenesis. At the molecular level, Ndel1 activity was highly correlated with the growth rate and size of BCOs. Two BCO subtypes were found in ASD toddlers: Those in one subtype had very enlarged BCO size with accelerated rate of growth and neurogenesis; a profound autism clinical phenotype displaying severe social symptoms, reduced social attention, reduced cognitive, very low language and social IQ; and substantially altered growth in specific cortical social, language and sensory regions. Those in a second subtype had milder BCO enlargement and milder social, attention, cognitive, language and cortical differences. LIMITATIONS: Larger samples of ASD toddler-derived BCO and clinical phenotypes may reveal additional ASD embryonic subtypes. CONCLUSIONS: By embryogenesis, the biological bases of two subtypes of ASD social and brain development-profound autism and mild autism-are already present and measurable and involve dysregulated cell proliferation and accelerated neurogenesis and growth. The larger the embryonic BCO size in ASD, the more severe the toddler's social symptoms and the more reduced the social attention, language ability, and IQ, and the more atypical the growth of social and language brain regions. En ligne : https://dx.doi.org/10.1186/s13229-024-00602-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

Impact of a digital Modified Checklist for Autism in Toddlers-Revised on likelihood and age of autism diagnosis and referral for developmental evaluation / Samantha MAJOR in Autism, 24-7 (October 2020)  

Public ISBD [article]  inAutism > 24-7 (October 2020) . - p.1629-1638 Titre : Impact of a digital Modified Checklist for Autism in Toddlers-Revised on likelihood and age of autism diagnosis and referral for developmental evaluation Type de document : Texte imprimé et/ou numérique Auteurs : Samantha MAJOR, Auteur ; Kathleen CAMPBELL, Auteur ; Steven ESPINOSA, Auteur ; Jeffrey P. BAKER, Auteur ; Kimberly L. H. CARPENTER, Auteur ; Guillermo SAPIRO, Auteur ; Saritha VERMEER, Auteur ; Geraldine DAWSON, Auteur Article en page(s) : p.1629-1638 Langues : Anglais (eng) Mots-clés : *asd  *developmental evaluation  *quality improvement  *screening  Inc, LabCorp, Inc, Roche Pharmaceutical Company, and Tris Pharma, and is a  consultant to Apple, Gerson Lehrman Group, Guidepoint, Inc, Axial Ventures, and Teva  Pharmaceutical. GD and GS are associated with DASIO, LLC. GD has received book  royalties from Guilford Press, Oxford University Press, Springer Nature Press. GD  has the following patent applications: 1802952, 1802942, 15141391, and 16493754. SE,  KC, GD, and GS have developed technology that has been licensed and they and Duke  University have benefited financially. Index. décimale : PER Périodiques Résumé : This was a project in primary care for young children (1-2?years old). We tested a parent questionnaire on a tablet. This tablet questionnaire asked questions to see whether the child may have autism. We compared the paper and pencil version of the questionnaire to the tablet questionnaire. We read the medical charts for the children until they were 4?years old to see whether they ended up having autism. We found that doctors were more likely to recommend an autism evaluation when a parent used the tablet questionnaire. We think that the tablet's automatic scoring feature helped the doctors. We also think that the doctors benefited from the advice the tablet gave them. En ligne : http://dx.doi.org/10.1177/1362361320916656 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431 [article] Impact of a digital Modified Checklist for Autism in Toddlers-Revised on likelihood and age of autism diagnosis and referral for developmental evaluation [Texte imprimé et/ou numérique] / Samantha MAJOR, Auteur ; Kathleen CAMPBELL, Auteur ; Steven ESPINOSA, Auteur ; Jeffrey P. BAKER, Auteur ; Kimberly L. H. CARPENTER, Auteur ; Guillermo SAPIRO, Auteur ; Saritha VERMEER, Auteur ; Geraldine DAWSON, Auteur . - p.1629-1638. Langues : Anglais (eng) in Autism > 24-7 (October 2020) . - p.1629-1638 Mots-clés : *asd  *developmental evaluation  *quality improvement  *screening  Inc, LabCorp, Inc, Roche Pharmaceutical Company, and Tris Pharma, and is a  consultant to Apple, Gerson Lehrman Group, Guidepoint, Inc, Axial Ventures, and Teva  Pharmaceutical. GD and GS are associated with DASIO, LLC. GD has received book  royalties from Guilford Press, Oxford University Press, Springer Nature Press. GD  has the following patent applications: 1802952, 1802942, 15141391, and 16493754. SE,  KC, GD, and GS have developed technology that has been licensed and they and Duke  University have benefited financially. Index. décimale : PER Périodiques Résumé : This was a project in primary care for young children (1-2?years old). We tested a parent questionnaire on a tablet. This tablet questionnaire asked questions to see whether the child may have autism. We compared the paper and pencil version of the questionnaire to the tablet questionnaire. We read the medical charts for the children until they were 4?years old to see whether they ended up having autism. We found that doctors were more likely to recommend an autism evaluation when a parent used the tablet questionnaire. We think that the tablet's automatic scoring feature helped the doctors. We also think that the doctors benefited from the advice the tablet gave them. En ligne : http://dx.doi.org/10.1177/1362361320916656 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431

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