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Faire une suggestionBringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases / Chirag GUPTA in Journal of Neurodevelopmental Disorders, 14 (2022)
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Titre : Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases Type de document : texte imprimé Auteurs : Chirag GUPTA, Auteur ; Pramod CHANDRASHEKAR, Auteur ; Ting JIN, Auteur ; Chenfeng HE, Auteur ; Saniya KHULLAR, Auteur ; Qiang CHANG, Auteur ; Daifeng WANG, Auteur Langues : Anglais (eng) Mots-clés : Artificial Intelligence Autism Spectrum Disorder/diagnosis Child Child, Preschool Developmental Disabilities/diagnosis Humans Infant, Newborn Intellectual Disability/diagnosis Machine Learning Brain Genomics Intellectual and developmental disabilities Multi-omics Index. décimale : PER Périodiques Résumé : Intellectual and Developmental Disabilities (IDDs), such as Down syndrome, Fragile X syndrome, Rett syndrome, and autism spectrum disorder, usually manifest at birth or early childhood. IDDs are characterized by significant impairment in intellectual and adaptive functioning, and both genetic and environmental factors underpin IDD biology. Molecular and genetic stratification of IDDs remain challenging mainly due to overlapping factors and comorbidity. Advances in high throughput sequencing, imaging, and tools to record behavioral data at scale have greatly enhanced our understanding of the molecular, cellular, structural, and environmental basis of some IDDs. Fueled by the "big data" revolution, artificial intelligence (AI) and machine learning (ML) technologies have brought a whole new paradigm shift in computational biology. Evidently, the ML-driven approach to clinical diagnoses has the potential to augment classical methods that use symptoms and external observations, hoping to push the personalized treatment plan forward. Therefore, integrative analyses and applications of ML technology have a direct bearing on discoveries in IDDs. The application of ML to IDDs can potentially improve screening and early diagnosis, advance our understanding of the complexity of comorbidity, and accelerate the identification of biomarkers for clinical research and drug development. For more than five decades, the IDDRC network has supported a nexus of investigators at centers across the USA, all striving to understand the interplay between various factors underlying IDDs. In this review, we introduced fast-increasing multi-modal data types, highlighted example studies that employed ML technologies to illuminate factors and biological mechanisms underlying IDDs, as well as recent advances in ML technologies and their applications to IDDs and other neurological diseases. We discussed various molecular, clinical, and environmental data collection modes, including genetic, imaging, phenotypical, and behavioral data types, along with multiple repositories that store and share such data. Furthermore, we outlined some fundamental concepts of machine learning algorithms and presented our opinion on specific gaps that will need to be filled to accomplish, for example, reliable implementation of ML-based diagnosis technology in IDD clinics. We anticipate that this review will guide researchers to formulate AI and ML-based approaches to investigate IDDs and related conditions. En ligne : https://dx.doi.org/10.1186/s11689-022-09438-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574
in Journal of Neurodevelopmental Disorders > 14 (2022)[article] Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases [texte imprimé] / Chirag GUPTA, Auteur ; Pramod CHANDRASHEKAR, Auteur ; Ting JIN, Auteur ; Chenfeng HE, Auteur ; Saniya KHULLAR, Auteur ; Qiang CHANG, Auteur ; Daifeng WANG, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 14 (2022)
Mots-clés : Artificial Intelligence Autism Spectrum Disorder/diagnosis Child Child, Preschool Developmental Disabilities/diagnosis Humans Infant, Newborn Intellectual Disability/diagnosis Machine Learning Brain Genomics Intellectual and developmental disabilities Multi-omics Index. décimale : PER Périodiques Résumé : Intellectual and Developmental Disabilities (IDDs), such as Down syndrome, Fragile X syndrome, Rett syndrome, and autism spectrum disorder, usually manifest at birth or early childhood. IDDs are characterized by significant impairment in intellectual and adaptive functioning, and both genetic and environmental factors underpin IDD biology. Molecular and genetic stratification of IDDs remain challenging mainly due to overlapping factors and comorbidity. Advances in high throughput sequencing, imaging, and tools to record behavioral data at scale have greatly enhanced our understanding of the molecular, cellular, structural, and environmental basis of some IDDs. Fueled by the "big data" revolution, artificial intelligence (AI) and machine learning (ML) technologies have brought a whole new paradigm shift in computational biology. Evidently, the ML-driven approach to clinical diagnoses has the potential to augment classical methods that use symptoms and external observations, hoping to push the personalized treatment plan forward. Therefore, integrative analyses and applications of ML technology have a direct bearing on discoveries in IDDs. The application of ML to IDDs can potentially improve screening and early diagnosis, advance our understanding of the complexity of comorbidity, and accelerate the identification of biomarkers for clinical research and drug development. For more than five decades, the IDDRC network has supported a nexus of investigators at centers across the USA, all striving to understand the interplay between various factors underlying IDDs. In this review, we introduced fast-increasing multi-modal data types, highlighted example studies that employed ML technologies to illuminate factors and biological mechanisms underlying IDDs, as well as recent advances in ML technologies and their applications to IDDs and other neurological diseases. We discussed various molecular, clinical, and environmental data collection modes, including genetic, imaging, phenotypical, and behavioral data types, along with multiple repositories that store and share such data. Furthermore, we outlined some fundamental concepts of machine learning algorithms and presented our opinion on specific gaps that will need to be filled to accomplish, for example, reliable implementation of ML-based diagnosis technology in IDD clinics. We anticipate that this review will guide researchers to formulate AI and ML-based approaches to investigate IDDs and related conditions. En ligne : https://dx.doi.org/10.1186/s11689-022-09438-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities / Michael R. SHERBY in Journal of Neurodevelopmental Disorders, 13 (2021)
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Titre : SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities Type de document : texte imprimé Auteurs : Michael R. SHERBY, Auteur ; Tyler J. WALSH, Auteur ; Albert M. LAI, Auteur ; Julie A. NEIDICH, Auteur ; Joyce E. BALLS-BERRY, Auteur ; Stephanie M. MORRIS, Auteur ; Richard HEAD, Auteur ; Christopher G. PRENER, Auteur ; Jason G. NEWLAND, Auteur ; Christina A. GURNETT, Auteur ; COMPASS-T STUDY GROUP, Auteur Langues : Anglais (eng) Mots-clés : covid-19 Child Developmental Disabilities/diagnosis/epidemiology Humans Pandemics SARS-CoV-2 Schools Covid-19 COVID-19 School tests Children with IDD Intellectual and developmental disabilities SARS-CoV-2 testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Transmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less is known about transmission in schools for children with intellectual and developmental disabilities (IDD), who are often unable to mask or maintain social distancing. The objectives of this study were to determine SARS-CoV-2 positivity and in-school transmission rates using weekly screening tests for school staff and students and describe the concurrent deployment of mitigation strategies in six schools for children with IDD. METHODS: From November 23, 2020, to May, 28, 2021, weekly voluntary screening for SARS-CoV-2 with a high sensitivity molecular-based saliva test was offered to school staff and students. Weekly positivity rates were determined and compared to local healthcare system and undergraduate student screening data. School-based transmission was assessed among participants quarantined for in-school exposure. School administrators completed a standardized survey to assess school mitigation strategies. RESULTS: A total of 59 students and 416 staff participated. An average of 304 school staff and students were tested per week. Of 7289 tests performed, 21 (0.29%) new SARS-CoV-2 positive cases were identified. The highest weekly positivity rate was 1.2% (n = 4) across all schools, which was less than community positivity rates. Two cases of in-school transmission were identified, each among staff, representing 2% (2/103) of participants quarantined for in-school exposure. Mitigation strategies included higher than expected student mask compliance, reduced room capacity, and phased reopening. CONCLUSIONS: During 24 weeks that included the peak of the COVID-19 pandemic in winter 2020-21, we found lower rates of SARS-CoV-2 screening test positivity among staff and students of six schools for children with IDD compared to community rates. In-school transmission of SARS-CoV-2 was low among those quarantined for in-school exposure. However, the impact of the emerging SARS-CoV-2 Delta variant on the effectiveness of these proven mitigation strategies remains unknown. TRIAL REGISTRATION: Prior to enrollment, this study was registered at ClinicalTrials.gov on September 25, 2020, identifier NCT04565509 , titled Supporting the Health and Well-being of Children with Intellectual and Developmental Disability During COVID-19 Pandemic. En ligne : https://dx.doi.org/10.1186/s11689-021-09376-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574
in Journal of Neurodevelopmental Disorders > 13 (2021)[article] SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities [texte imprimé] / Michael R. SHERBY, Auteur ; Tyler J. WALSH, Auteur ; Albert M. LAI, Auteur ; Julie A. NEIDICH, Auteur ; Joyce E. BALLS-BERRY, Auteur ; Stephanie M. MORRIS, Auteur ; Richard HEAD, Auteur ; Christopher G. PRENER, Auteur ; Jason G. NEWLAND, Auteur ; Christina A. GURNETT, Auteur ; COMPASS-T STUDY GROUP, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 13 (2021)
Mots-clés : covid-19 Child Developmental Disabilities/diagnosis/epidemiology Humans Pandemics SARS-CoV-2 Schools Covid-19 COVID-19 School tests Children with IDD Intellectual and developmental disabilities SARS-CoV-2 testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Transmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less is known about transmission in schools for children with intellectual and developmental disabilities (IDD), who are often unable to mask or maintain social distancing. The objectives of this study were to determine SARS-CoV-2 positivity and in-school transmission rates using weekly screening tests for school staff and students and describe the concurrent deployment of mitigation strategies in six schools for children with IDD. METHODS: From November 23, 2020, to May, 28, 2021, weekly voluntary screening for SARS-CoV-2 with a high sensitivity molecular-based saliva test was offered to school staff and students. Weekly positivity rates were determined and compared to local healthcare system and undergraduate student screening data. School-based transmission was assessed among participants quarantined for in-school exposure. School administrators completed a standardized survey to assess school mitigation strategies. RESULTS: A total of 59 students and 416 staff participated. An average of 304 school staff and students were tested per week. Of 7289 tests performed, 21 (0.29%) new SARS-CoV-2 positive cases were identified. The highest weekly positivity rate was 1.2% (n = 4) across all schools, which was less than community positivity rates. Two cases of in-school transmission were identified, each among staff, representing 2% (2/103) of participants quarantined for in-school exposure. Mitigation strategies included higher than expected student mask compliance, reduced room capacity, and phased reopening. CONCLUSIONS: During 24 weeks that included the peak of the COVID-19 pandemic in winter 2020-21, we found lower rates of SARS-CoV-2 screening test positivity among staff and students of six schools for children with IDD compared to community rates. In-school transmission of SARS-CoV-2 was low among those quarantined for in-school exposure. However, the impact of the emerging SARS-CoV-2 Delta variant on the effectiveness of these proven mitigation strategies remains unknown. TRIAL REGISTRATION: Prior to enrollment, this study was registered at ClinicalTrials.gov on September 25, 2020, identifier NCT04565509 , titled Supporting the Health and Well-being of Children with Intellectual and Developmental Disability During COVID-19 Pandemic. En ligne : https://dx.doi.org/10.1186/s11689-021-09376-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 The Relationships, Employment, Autonomy, and Life Satisfaction (REALS) Measures for Autistic Adults and Adults With Other Intellectual and Developmental Disabilities: Psychometric Testing of the Self-Report and Proxy Versions / Caitlin M. CONNER in Autism Research, 18-3 (March 2025)
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Titre : The Relationships, Employment, Autonomy, and Life Satisfaction (REALS) Measures for Autistic Adults and Adults With Other Intellectual and Developmental Disabilities: Psychometric Testing of the Self-Report and Proxy Versions Type de document : texte imprimé Auteurs : Caitlin M. CONNER, Auteur ; Lan YU, Auteur ; Kristen T. MACKENZIE, Auteur ; Katharine N. ZEGLEN, Auteur ; Elizabeth RUTENBERG, Auteur ; Paul A. PILKONIS, Auteur ; Shaun M. EACK, Auteur ; Carla A. MAZEFSKY, Auteur Article en page(s) : p.583-603 Langues : Anglais (eng) Mots-clés : adult outcomes autism intellectual and developmental disabilities measurement Index. décimale : PER Périodiques Résumé : ABSTRACT Research and clinical work demonstrate that adults with intellectual and developmental disabilities (IDDs; including autistic adults and adults with other IDDs) struggle with key outcomes in adult life, including social relationships, employment, autonomy, and life satisfaction. However, few validated measures exist to measure these outcomes in adults with IDDs. The Relationships, Employment, Autonomy, and Life Satisfaction (REALS) Measures were created using methods developed by the Patient-Reported Outcomes Measurement Information System (PROMIS) to assess these outcomes. Large item pools were generated for the four domains, and, in field testing, 875 adults with IDDs (90% autistic; 18.4% with intellectual disability or a non-autism IDD) and 911 proxy reporters (caregivers; 79% autistic; 48.3% with intellectual disability or a non-autism IDD) completed 108 and 74 items, respectively, using response options capturing frequency, level of support needed, and satisfaction. The structure and item content of the REALS Measures were determined through an iterative process using both classical test theory and item response theory analyses. The final versions include 19 self-report and 14 proxy-report measures, with a range of 3 to 14 items each. The measures have excellent psychometric properties, high precision, and acceptable respondent burden. Thus, they are applicable for service provision, clinical, and research arenas for autistic adults and adults with other IDDs, though additional testing in IDD is warranted and evidence supporting self-report use in IDD is more limited. En ligne : https://doi.org/10.1002/aur.70002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=550
in Autism Research > 18-3 (March 2025) . - p.583-603[article] The Relationships, Employment, Autonomy, and Life Satisfaction (REALS) Measures for Autistic Adults and Adults With Other Intellectual and Developmental Disabilities: Psychometric Testing of the Self-Report and Proxy Versions [texte imprimé] / Caitlin M. CONNER, Auteur ; Lan YU, Auteur ; Kristen T. MACKENZIE, Auteur ; Katharine N. ZEGLEN, Auteur ; Elizabeth RUTENBERG, Auteur ; Paul A. PILKONIS, Auteur ; Shaun M. EACK, Auteur ; Carla A. MAZEFSKY, Auteur . - p.583-603.
Langues : Anglais (eng)
in Autism Research > 18-3 (March 2025) . - p.583-603
Mots-clés : adult outcomes autism intellectual and developmental disabilities measurement Index. décimale : PER Périodiques Résumé : ABSTRACT Research and clinical work demonstrate that adults with intellectual and developmental disabilities (IDDs; including autistic adults and adults with other IDDs) struggle with key outcomes in adult life, including social relationships, employment, autonomy, and life satisfaction. However, few validated measures exist to measure these outcomes in adults with IDDs. The Relationships, Employment, Autonomy, and Life Satisfaction (REALS) Measures were created using methods developed by the Patient-Reported Outcomes Measurement Information System (PROMIS) to assess these outcomes. Large item pools were generated for the four domains, and, in field testing, 875 adults with IDDs (90% autistic; 18.4% with intellectual disability or a non-autism IDD) and 911 proxy reporters (caregivers; 79% autistic; 48.3% with intellectual disability or a non-autism IDD) completed 108 and 74 items, respectively, using response options capturing frequency, level of support needed, and satisfaction. The structure and item content of the REALS Measures were determined through an iterative process using both classical test theory and item response theory analyses. The final versions include 19 self-report and 14 proxy-report measures, with a range of 3 to 14 items each. The measures have excellent psychometric properties, high precision, and acceptable respondent burden. Thus, they are applicable for service provision, clinical, and research arenas for autistic adults and adults with other IDDs, though additional testing in IDD is warranted and evidence supporting self-report use in IDD is more limited. En ligne : https://doi.org/10.1002/aur.70002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=550 Psychotropic Medication Use for Adults with Autism Spectrum Disorder who Receive Services and Supports Through Adult Developmental Disability Services in the United States / Amy N. ESLER in Journal of Autism and Developmental Disorders, 49-6 (June 2019)
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Titre : Psychotropic Medication Use for Adults with Autism Spectrum Disorder who Receive Services and Supports Through Adult Developmental Disability Services in the United States Type de document : texte imprimé Auteurs : Amy N. ESLER, Auteur ; Amy HEWITT, Auteur ; Jennifer HALL-LANDE, Auteur ; Sandra L. PETTINGELL, Auteur ; James HOUSEWORTH, Auteur Article en page(s) : p.2291-2303 Langues : Anglais (eng) Mots-clés : Asd Autism spectrum disorder Community living Id Intellectual and developmental disabilities National core indicators Psychotropic medications Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder (ASD) have higher rates of co-occurring diagnoses and use of psychotropic medication prescriptions than people with other developmental disabilities. Few studies have examined these trends in samples of people with intellectual and developmental disabilities (IDD) with and without ASD. Using a random sample of 11,947 adult IDD service users from 25 states, co-occurring diagnoses and psychotropic medication use were compared for those with and without ASD. Regardless of diagnosis, individuals with ASD had higher percentages of psychotropic medication use. Controlling for co-occurring condition, age, gender, and ID level, a diagnosis of ASD predicted number of medications used. Further research is needed to understand why individuals with ASD are prescribed more medication, more often, than similarly functioning groups of individuals without ASD. En ligne : https://dx.doi.org/10.1007/s10803-019-03903-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400
in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2291-2303[article] Psychotropic Medication Use for Adults with Autism Spectrum Disorder who Receive Services and Supports Through Adult Developmental Disability Services in the United States [texte imprimé] / Amy N. ESLER, Auteur ; Amy HEWITT, Auteur ; Jennifer HALL-LANDE, Auteur ; Sandra L. PETTINGELL, Auteur ; James HOUSEWORTH, Auteur . - p.2291-2303.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2291-2303
Mots-clés : Asd Autism spectrum disorder Community living Id Intellectual and developmental disabilities National core indicators Psychotropic medications Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder (ASD) have higher rates of co-occurring diagnoses and use of psychotropic medication prescriptions than people with other developmental disabilities. Few studies have examined these trends in samples of people with intellectual and developmental disabilities (IDD) with and without ASD. Using a random sample of 11,947 adult IDD service users from 25 states, co-occurring diagnoses and psychotropic medication use were compared for those with and without ASD. Regardless of diagnosis, individuals with ASD had higher percentages of psychotropic medication use. Controlling for co-occurring condition, age, gender, and ID level, a diagnosis of ASD predicted number of medications used. Further research is needed to understand why individuals with ASD are prescribed more medication, more often, than similarly functioning groups of individuals without ASD. En ligne : https://dx.doi.org/10.1007/s10803-019-03903-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 Promoting Social Interactions and Job Independence for College Students with Autism or Intellectual Disability: A Pilot Study / Carly B. GILSON in Journal of Autism and Developmental Disorders, 46-11 (November 2016)
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Titre : Promoting Social Interactions and Job Independence for College Students with Autism or Intellectual Disability: A Pilot Study Type de document : texte imprimé Auteurs : Carly B. GILSON, Auteur ; Erik W. CARTER, Auteur Article en page(s) : p.3583-3596 Langues : Anglais (eng) Mots-clés : Covert audio coaching Job coach Postsecondary education program Autism Intellectual and developmental disabilities Supported employment Index. décimale : PER Périodiques Résumé : The employment outcomes for young adults with autism or intellectual disability (ID) lag far behind those of their peers without disabilities. Most postsecondary education programs for students with disabilities incorporate internship experiences to foster employment skills. However, the proximity of job coaches may inadvertently hinder social opportunities and independence. We used a multiple-probe, single-case experimental design across three college students with autism or ID to examine the effects of a coaching package on task engagement and social interactions. For all participants, interactions increased and task engagement maintained when job coaches reduced proximity and delivered prompts discreetly through bug-in-ear devices. Participants considered the intervention beneficial and unobtrusive. We present implications for supporting employment preparation within postsecondary education programs. En ligne : http://dx.doi.org/10.1007/s10803-016-2894-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294
in Journal of Autism and Developmental Disorders > 46-11 (November 2016) . - p.3583-3596[article] Promoting Social Interactions and Job Independence for College Students with Autism or Intellectual Disability: A Pilot Study [texte imprimé] / Carly B. GILSON, Auteur ; Erik W. CARTER, Auteur . - p.3583-3596.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-11 (November 2016) . - p.3583-3596
Mots-clés : Covert audio coaching Job coach Postsecondary education program Autism Intellectual and developmental disabilities Supported employment Index. décimale : PER Périodiques Résumé : The employment outcomes for young adults with autism or intellectual disability (ID) lag far behind those of their peers without disabilities. Most postsecondary education programs for students with disabilities incorporate internship experiences to foster employment skills. However, the proximity of job coaches may inadvertently hinder social opportunities and independence. We used a multiple-probe, single-case experimental design across three college students with autism or ID to examine the effects of a coaching package on task engagement and social interactions. For all participants, interactions increased and task engagement maintained when job coaches reduced proximity and delivered prompts discreetly through bug-in-ear devices. Participants considered the intervention beneficial and unobtrusive. We present implications for supporting employment preparation within postsecondary education programs. En ligne : http://dx.doi.org/10.1007/s10803-016-2894-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294 Brief Report: Sibling Feelings Toward their Brother or Sister With or Without Autism or Intellectual Disability / Carolyn M. SHIVERS in Journal of Autism and Developmental Disorders, 49-1 (January 2019)
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PermalinkEmployment in the community for people with and without autism: A comparative analysis / Derek NORD in Research in Autism Spectrum Disorders, 24 (April 2016)
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PermalinkUsing team-based precision medicine to advance understanding of rare genetic brain disorders / Steven U. WALKLEY in Journal of Neurodevelopmental Disorders, 16 (2024)
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