Diagnostic Evaluations of Autism Spectrum Disorder during the COVID-19 Pandemic / J. JANG in Journal of Autism and Developmental Disorders, 52-2 (February 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.962-973 Titre : Diagnostic Evaluations of Autism Spectrum Disorder during the COVID-19 Pandemic Type de document : Texte imprimé et/ou numérique Auteurs : J. JANG, Auteur ; S. P. WHITE, Auteur ; A. N. ESLER, Auteur ; S. H. KIM, Auteur ; C. KLAIMAN, Auteur ; J. T. MEGERIAN, Auteur ; A. MORSE, Auteur ; C. NADLER, Auteur ; Stephen M. KANNE, Auteur Article en page(s) : p.962-973 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology  Autistic Disorder  Covid-19  Humans  Pandemics  SARS-CoV-2  Autism  Diagnostic evaluations Index. décimale : PER Périodiques Résumé : A global pandemic has significantly impacted the ability to conduct diagnostic evaluations for autism spectrum disorder (ASD). In the wake of the coronavirus, autism centers and providers quickly needed to implement innovative diagnostic processes to adapt in order to continue serve patient needs while minimizing the spread of the virus. The International Collaborative for Diagnostic Evaluation of Autism (IDEA) is a grassroots organization that came together to discuss standards of care during the pandemic and to provide a forum wherein providers communicated decisions. This white paper is intended to provide examples of how different centers adjusted their standard approaches to conduct diagnostic evaluations for ASD during the pandemic and to provide insight to other centers as they go through similar challenges. En ligne : http://dx.doi.org/10.1007/s10803-021-04960-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Diagnostic Evaluations of Autism Spectrum Disorder during the COVID-19 Pandemic [Texte imprimé et/ou numérique] / J. JANG, Auteur ; S. P. WHITE, Auteur ; A. N. ESLER, Auteur ; S. H. KIM, Auteur ; C. KLAIMAN, Auteur ; J. T. MEGERIAN, Auteur ; A. MORSE, Auteur ; C. NADLER, Auteur ; Stephen M. KANNE, Auteur . - p.962-973. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.962-973 Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology  Autistic Disorder  Covid-19  Humans  Pandemics  SARS-CoV-2  Autism  Diagnostic evaluations Index. décimale : PER Périodiques Résumé : A global pandemic has significantly impacted the ability to conduct diagnostic evaluations for autism spectrum disorder (ASD). In the wake of the coronavirus, autism centers and providers quickly needed to implement innovative diagnostic processes to adapt in order to continue serve patient needs while minimizing the spread of the virus. The International Collaborative for Diagnostic Evaluation of Autism (IDEA) is a grassroots organization that came together to discuss standards of care during the pandemic and to provide a forum wherein providers communicated decisions. This white paper is intended to provide examples of how different centers adjusted their standard approaches to conduct diagnostic evaluations for ASD during the pandemic and to provide insight to other centers as they go through similar challenges. En ligne : http://dx.doi.org/10.1007/s10803-021-04960-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Early emergence of discrepancy in adaptive behavior and cognitive skills in toddlers with autism spectrum disorder / Jessica BRADSHAW in Autism, 23-6 (August 2019)  

Public ISBD [article]  inAutism > 23-6 (August 2019) . - p.1485-1496 Titre : Early emergence of discrepancy in adaptive behavior and cognitive skills in toddlers with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jessica BRADSHAW, Auteur ; S. GILLESPIE, Auteur ; C. KLAIMAN, Auteur ; A. KLIN, Auteur ; Celine A. SAULNIER, Auteur Article en page(s) : p.1485-1496 Langues : Anglais (eng) Mots-clés : adaptive behavior  autism spectrum disorders  cognition (attention, learning, and memory)  development Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder and average IQ exhibit a widening discrepancy between lagging adaptive skills relative to their cognitive potential, but it is unknown when this discrepancy emerges in development. To address this important question, we measured adaptive and cognitive skills longitudinally, from 12-36 months, in 96 low-risk typically developing infants and 69 high-risk siblings of children with autism spectrum disorder who at 36 months were diagnosed with autism spectrum disorder (N = 21), the broader autism phenotype (N = 19), or showed no concerns (unaffected; N = 29). Results indicate that both cognitive and adaptive communication skills remained stable over time for all four groups, but toddlers with autism spectrum disorder and the broader autism phenotype failed to keep pace with unaffected and typically developing toddlers with regard to adaptive socialization skills and, to a lesser extent, daily living skills. The odds of having a discrepant developmental profile, with average cognitive skills and below average adaptive skills, was significantly greater for socialization and daily living skills in toddlers with autism spectrum disorder or the broader autism phenotype and increased over time from 12 to 36 months. The discrepancy between adaptive skills and cognition emerges early and widens over time for infants with autism spectrum disorder symptomology, supporting early assessment and intervention of adaptive socialization and daily living skills. En ligne : http://dx.doi.org/10.1177/1362361318815662 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=403 [article] Early emergence of discrepancy in adaptive behavior and cognitive skills in toddlers with autism spectrum disorder [Texte imprimé et/ou numérique] / Jessica BRADSHAW, Auteur ; S. GILLESPIE, Auteur ; C. KLAIMAN, Auteur ; A. KLIN, Auteur ; Celine A. SAULNIER, Auteur . - p.1485-1496. Langues : Anglais (eng) in Autism > 23-6 (August 2019) . - p.1485-1496 Mots-clés : adaptive behavior  autism spectrum disorders  cognition (attention, learning, and memory)  development Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder and average IQ exhibit a widening discrepancy between lagging adaptive skills relative to their cognitive potential, but it is unknown when this discrepancy emerges in development. To address this important question, we measured adaptive and cognitive skills longitudinally, from 12-36 months, in 96 low-risk typically developing infants and 69 high-risk siblings of children with autism spectrum disorder who at 36 months were diagnosed with autism spectrum disorder (N = 21), the broader autism phenotype (N = 19), or showed no concerns (unaffected; N = 29). Results indicate that both cognitive and adaptive communication skills remained stable over time for all four groups, but toddlers with autism spectrum disorder and the broader autism phenotype failed to keep pace with unaffected and typically developing toddlers with regard to adaptive socialization skills and, to a lesser extent, daily living skills. The odds of having a discrepant developmental profile, with average cognitive skills and below average adaptive skills, was significantly greater for socialization and daily living skills in toddlers with autism spectrum disorder or the broader autism phenotype and increased over time from 12 to 36 months. The discrepancy between adaptive skills and cognition emerges early and widens over time for infants with autism spectrum disorder symptomology, supporting early assessment and intervention of adaptive socialization and daily living skills. En ligne : http://dx.doi.org/10.1177/1362361318815662 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=403

Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry / R. M. POLLAK in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 30 p. Titre : Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry Type de document : Texte imprimé et/ou numérique Auteurs : R. M. POLLAK, Auteur ; M. M. MURPHY, Auteur ; M. P. EPSTEIN, Auteur ; M. E. ZWICK, Auteur ; C. KLAIMAN, Auteur ; Celine A. SAULNIER, Auteur ; J. G. MULLE, Auteur Article en page(s) : 30 p. Langues : Anglais (eng) Mots-clés : 3q29 deletion  Autism  Copy number variants  Developmental delay  Genomic disorder  Psychiatric genetics  SRS  Vineland-3 Index. décimale : PER Périodiques Résumé : Background: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. Methods: We ascertained individuals with 3q29 deletion syndrome (3q29Del, "cases," n = 93, 58.1% male) and typically developing controls (n = 64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric illness was evaluated for 93 cases. Subsets of participants were evaluated with the Social Responsiveness Scale (SRS, n = 48 cases, 56 controls), Social Communication Questionnaire (n = 33 cases, 46 controls), Autism Spectrum Screening Questionnaire (n = 24 cases, 35 controls), and Achenbach Behavior Checklists (n = 48 cases, 57 controls). Results: 3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%, p < 2.2E- 16). Notably, 3q29 deletion confers a greater influence on risk for ASD in females (OR = 41.8, p = 4.78E- 05) than in males (OR = 24.6, p = 6.06E- 09); this is aligned with the reduced male:female bias from 4:1 in the general population to 2:1 in our study sample. Although 71% of cases do not report a diagnosis of ASD, there is evidence of significant social disability (3q29Del SRS T-score = 71.8, control SRS T-score = 45.9, p = 2.16E- 13). Cases also report increased frequency of generalized anxiety disorder compared to controls (28.0% vs. 6.2%, p = 0.001), which is mirrored by elevated mean scores on the Achenbach diagnostic and statistical manual-oriented sub-scales (p < 0.001). Finally, cases show a distinct constellation of ASD features on the SRS as compared to idiopathic ASD, with substantially elevated Restricted Interests and Repetitive Behaviors, but only mild impairment in Social Motivation. Conclusions: Our sample of 3q29Del is significantly enriched for ASD diagnosis, especially among females, and features of autism may be present even when an ASD diagnosis is not reported. Further, the constellation of ASD features in this population is distinct from idiopathic ASD, with substantially less impaired social motivation. Our study implies that ASD evaluation should be the standard of care for individuals with 3q29Del. From a research perspective, the distinct ASD subtype present in 3q29Del is an ideal entry point for expanding understanding of ASD. En ligne : https://dx.doi.org/10.1186/s13229-019-0281-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry [Texte imprimé et/ou numérique] / R. M. POLLAK, Auteur ; M. M. MURPHY, Auteur ; M. P. EPSTEIN, Auteur ; M. E. ZWICK, Auteur ; C. KLAIMAN, Auteur ; Celine A. SAULNIER, Auteur ; J. G. MULLE, Auteur . - 30 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 30 p. Mots-clés : 3q29 deletion  Autism  Copy number variants  Developmental delay  Genomic disorder  Psychiatric genetics  SRS  Vineland-3 Index. décimale : PER Périodiques Résumé : Background: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. Methods: We ascertained individuals with 3q29 deletion syndrome (3q29Del, "cases," n = 93, 58.1% male) and typically developing controls (n = 64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric illness was evaluated for 93 cases. Subsets of participants were evaluated with the Social Responsiveness Scale (SRS, n = 48 cases, 56 controls), Social Communication Questionnaire (n = 33 cases, 46 controls), Autism Spectrum Screening Questionnaire (n = 24 cases, 35 controls), and Achenbach Behavior Checklists (n = 48 cases, 57 controls). Results: 3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%, p < 2.2E- 16). Notably, 3q29 deletion confers a greater influence on risk for ASD in females (OR = 41.8, p = 4.78E- 05) than in males (OR = 24.6, p = 6.06E- 09); this is aligned with the reduced male:female bias from 4:1 in the general population to 2:1 in our study sample. Although 71% of cases do not report a diagnosis of ASD, there is evidence of significant social disability (3q29Del SRS T-score = 71.8, control SRS T-score = 45.9, p = 2.16E- 13). Cases also report increased frequency of generalized anxiety disorder compared to controls (28.0% vs. 6.2%, p = 0.001), which is mirrored by elevated mean scores on the Achenbach diagnostic and statistical manual-oriented sub-scales (p < 0.001). Finally, cases show a distinct constellation of ASD features on the SRS as compared to idiopathic ASD, with substantially elevated Restricted Interests and Repetitive Behaviors, but only mild impairment in Social Motivation. Conclusions: Our sample of 3q29Del is significantly enriched for ASD diagnosis, especially among females, and features of autism may be present even when an ASD diagnosis is not reported. Further, the constellation of ASD features in this population is distinct from idiopathic ASD, with substantially less impaired social motivation. Our study implies that ASD evaluation should be the standard of care for individuals with 3q29Del. From a research perspective, the distinct ASD subtype present in 3q29Del is an ideal entry point for expanding understanding of ASD. En ligne : https://dx.doi.org/10.1186/s13229-019-0281-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Rethinking autism spectrum disorder assessment for children during COVID-19 and beyond / Lonnie ZWAIGENBAUM in Autism Research, 14-11 (November 2021)  

Public ISBD [article]  inAutism Research > 14-11 (November 2021) . - p.2251-2259 Titre : Rethinking autism spectrum disorder assessment for children during COVID-19 and beyond Type de document : Texte imprimé et/ou numérique Auteurs : Lonnie ZWAIGENBAUM, Auteur ; Somer L. BISHOP, Auteur ; W. L. STONE, Auteur ; L. IBANEZ, Auteur ; Alycia K. HALLADAY, Auteur ; S. GOLDMAN, Auteur ; A. KELLY, Auteur ; C. KLAIMAN, Auteur ; Meng-Chuan LAI, Auteur ; M. MILLER, Auteur ; Celine A. SAULNIER, Auteur ; P. SIPER, Auteur ; K. SOHL, Auteur ; Zachary WARREN, Auteur ; Amy M. WETHERBY, Auteur Article en page(s) : p.2251-2259 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology  Autistic Disorder  Covid-19  Child  Humans  Pandemics  SARS-CoV-2  assessment  autism  challenges  children  diagnosis  disparities  pandemic Index. décimale : PER Périodiques Résumé : The COVID-19 pandemic has posed unique challenges for families and caregivers, as well as for autism-focused clinicians, who are faced with providing a thorough and accurate evaluation of children's specific needs and diagnoses in the absence of in-person assessment tools. The shift to telehealth assessments has challenged clinicians to reconsider approaches and assumptions that underlie the diagnostic assessment process, and to adopt new ways of individualizing standard assessments according to family and child needs. Mandates for physical distancing have uncovered deficiencies in diagnostic practices for suspected autism and have illuminated biases that have posed obstacles preventing children and families from receiving the services that they truly need. This Commentary outlines several considerations for improving diagnostic practices as we move forward from the current pandemic and continue to strive to build an adaptable, sustainable, equitable, and family-centered system of care. LAY SUMMARY: Physical distancing and the abrupt end to in-person services for many children on the autism spectrum has forced clinicians to examine the existing challenges with autism spectrum disorder (ASD) diagnostic assessment and consider things they want to keep and things that should be changed in the years ahead. New approaches such as telehealth both alleviated and exacerbated existing disparities, and brought into stark focus the importance of equitable and timely access to family-centered care. This commentary suggests ways of improving clinical practices related to ASD assessment to continue along this path. En ligne : http://dx.doi.org/10.1002/aur.2615 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Rethinking autism spectrum disorder assessment for children during COVID-19 and beyond [Texte imprimé et/ou numérique] / Lonnie ZWAIGENBAUM, Auteur ; Somer L. BISHOP, Auteur ; W. L. STONE, Auteur ; L. IBANEZ, Auteur ; Alycia K. HALLADAY, Auteur ; S. GOLDMAN, Auteur ; A. KELLY, Auteur ; C. KLAIMAN, Auteur ; Meng-Chuan LAI, Auteur ; M. MILLER, Auteur ; Celine A. SAULNIER, Auteur ; P. SIPER, Auteur ; K. SOHL, Auteur ; Zachary WARREN, Auteur ; Amy M. WETHERBY, Auteur . - p.2251-2259. Langues : Anglais (eng) in Autism Research > 14-11 (November 2021) . - p.2251-2259 Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology  Autistic Disorder  Covid-19  Child  Humans  Pandemics  SARS-CoV-2  assessment  autism  challenges  children  diagnosis  disparities  pandemic Index. décimale : PER Périodiques Résumé : The COVID-19 pandemic has posed unique challenges for families and caregivers, as well as for autism-focused clinicians, who are faced with providing a thorough and accurate evaluation of children's specific needs and diagnoses in the absence of in-person assessment tools. The shift to telehealth assessments has challenged clinicians to reconsider approaches and assumptions that underlie the diagnostic assessment process, and to adopt new ways of individualizing standard assessments according to family and child needs. Mandates for physical distancing have uncovered deficiencies in diagnostic practices for suspected autism and have illuminated biases that have posed obstacles preventing children and families from receiving the services that they truly need. This Commentary outlines several considerations for improving diagnostic practices as we move forward from the current pandemic and continue to strive to build an adaptable, sustainable, equitable, and family-centered system of care. LAY SUMMARY: Physical distancing and the abrupt end to in-person services for many children on the autism spectrum has forced clinicians to examine the existing challenges with autism spectrum disorder (ASD) diagnostic assessment and consider things they want to keep and things that should be changed in the years ahead. New approaches such as telehealth both alleviated and exacerbated existing disparities, and brought into stark focus the importance of equitable and timely access to family-centered care. This commentary suggests ways of improving clinical practices related to ASD assessment to continue along this path. En ligne : http://dx.doi.org/10.1002/aur.2615 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

Visual Traces of Language Acquisition in Toddlers with Autism Spectrum Disorder During the Second Year of Life / Serene HABAYEB in Journal of Autism and Developmental Disorders, 51-7 (July 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-7 (July 2021) . - p.2519-2530 Titre : Visual Traces of Language Acquisition in Toddlers with Autism Spectrum Disorder During the Second Year of Life Type de document : Texte imprimé et/ou numérique Auteurs : Serene HABAYEB, Auteur ; T. TSANG, Auteur ; Celine A. SAULNIER, Auteur ; C. KLAIMAN, Auteur ; W. JONES, Auteur ; A. KLIN, Auteur ; L. A. EDWARDS, Auteur Article en page(s) : p.2519-2530 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications  Child Development  Child, Preschool  Cross-Sectional Studies  Eye Movements  Face  Humans  Infant  Language  Language Development  Male  Visual Perception  Autism spectrum disorder  Eye-tracking  Heterogeneity  Infant development  Language acquisition  Social visual engagement Index. décimale : PER Périodiques Résumé : Infants show shifting patterns of visual engagement to faces over the first years of life. To explore the adaptive implications of this engagement, we collected eye-tracking measures on cross-sectional samples of 10-25-month-old typically developing toddlers (TD;N?=?28) and those with autism spectrum disorder (ASD;N?=?54). Concurrent language assessments were conducted and relationships between visual engagement and expressive and receptive language were analyzed between groups, and within ASD subgroups. TD and ASD toddlers exhibited greater mouth- than eye-looking, with TD exhibiting higher levels of mouth-looking than ASD. Mouth-looking was positively associated with expressive language in TD toddlers, and in ASD toddlers who had acquired first words. Mouth-looking was unrelated to expressive language in ASD toddlers who had not yet acquired first words. En ligne : http://dx.doi.org/10.1007/s10803-020-04730-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 [article] Visual Traces of Language Acquisition in Toddlers with Autism Spectrum Disorder During the Second Year of Life [Texte imprimé et/ou numérique] / Serene HABAYEB, Auteur ; T. TSANG, Auteur ; Celine A. SAULNIER, Auteur ; C. KLAIMAN, Auteur ; W. JONES, Auteur ; A. KLIN, Auteur ; L. A. EDWARDS, Auteur . - p.2519-2530. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-7 (July 2021) . - p.2519-2530 Mots-clés : Autism Spectrum Disorder/complications  Child Development  Child, Preschool  Cross-Sectional Studies  Eye Movements  Face  Humans  Infant  Language  Language Development  Male  Visual Perception  Autism spectrum disorder  Eye-tracking  Heterogeneity  Infant development  Language acquisition  Social visual engagement Index. décimale : PER Périodiques Résumé : Infants show shifting patterns of visual engagement to faces over the first years of life. To explore the adaptive implications of this engagement, we collected eye-tracking measures on cross-sectional samples of 10-25-month-old typically developing toddlers (TD;N?=?28) and those with autism spectrum disorder (ASD;N?=?54). Concurrent language assessments were conducted and relationships between visual engagement and expressive and receptive language were analyzed between groups, and within ASD subgroups. TD and ASD toddlers exhibited greater mouth- than eye-looking, with TD exhibiting higher levels of mouth-looking than ASD. Mouth-looking was positively associated with expressive language in TD toddlers, and in ASD toddlers who had acquired first words. Mouth-looking was unrelated to expressive language in ASD toddlers who had not yet acquired first words. En ligne : http://dx.doi.org/10.1007/s10803-020-04730-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

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