Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
4 recherche sur le mot-clé 'individual variability/heterogeneity'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers / Caitlin M. HUDAC in Autism Research, 13-8 (August 2020)
[article]
Titre : Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers Type de document : Texte imprimé et/ou numérique Auteurs : Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.1300-1310 Langues : Anglais (eng) Mots-clés : 16p11.2 deletion 16p11.2 duplication adaptive functioning autism spectrum disorder cognitive functioning individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430
in Autism Research > 13-8 (August 2020) . - p.1300-1310[article] Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers [Texte imprimé et/ou numérique] / Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.1300-1310.
Langues : Anglais (eng)
in Autism Research > 13-8 (August 2020) . - p.1300-1310
Mots-clés : 16p11.2 deletion 16p11.2 duplication adaptive functioning autism spectrum disorder cognitive functioning individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 Brief report: Poor self-regulation as a predictor of individual differences in adaptive functioning in young children with autism spectrum disorder / M. ULJAREVIC in Autism Research, 11-8 (August 2018)
[article]
Titre : Brief report: Poor self-regulation as a predictor of individual differences in adaptive functioning in young children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : M. ULJAREVIC, Auteur ; D. HEDLEY, Auteur ; R. NEVILL, Auteur ; D. W. EVANS, Auteur ; Ru Ying CAI, Auteur ; Eric BUTTER, Auteur ; J. A. MULICK, Auteur Article en page(s) : p.1157-1165 Langues : Anglais (eng) Mots-clés : adaptive behavior autism spectrum disorder dysregulated profile individual variability/heterogeneity self-regulation Index. décimale : PER Périodiques Résumé : The present study examined the link between poor self-regulation (measured by the child behavior checklist dysregulated profile [DP]) and core autism symptoms, as well as with developmental level, in a sample of 107 children with autism spectrum disorder (ASD) aged 19-46 months. We further examined the utility of DP in predicting individual differences in adaptive functioning, relative to the influence of ASD severity, chronological age (CA), and developmental level. Poor self-regulation was unrelated to CA, developmental level, and severity of ADOS-2 restricted and repetitive behaviors, but was associated with lower ADOS-2 social affect severity. Hierarchical regression identified poor self-regulation as a unique independent predictor of adaptive behavior, with more severe dysregulation predicting poorer adaptive functioning. Results highlight the importance of early identification of deficits in self-regulation, and more specifically, of the utility of DP, when designing individually tailored treatments for young children with ASD. Autism Res 2018, 11: 1157-1165. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study explored the relationship between poor self-regulation and age, verbal and non-verbal developmental level, severity of autism symptoms and adaptive functioning in 107 children with autism under 4 years of age. Poor self-regulation was unrelated to age, developmental level, and severity of restricted and repetitive behaviors but was associated with lower social affect severity. Importantly, more severe self-regulation deficits predicted poorer adaptive functioning. En ligne : http://dx.doi.org/10.1002/aur.1953 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369
in Autism Research > 11-8 (August 2018) . - p.1157-1165[article] Brief report: Poor self-regulation as a predictor of individual differences in adaptive functioning in young children with autism spectrum disorder [Texte imprimé et/ou numérique] / M. ULJAREVIC, Auteur ; D. HEDLEY, Auteur ; R. NEVILL, Auteur ; D. W. EVANS, Auteur ; Ru Ying CAI, Auteur ; Eric BUTTER, Auteur ; J. A. MULICK, Auteur . - p.1157-1165.
Langues : Anglais (eng)
in Autism Research > 11-8 (August 2018) . - p.1157-1165
Mots-clés : adaptive behavior autism spectrum disorder dysregulated profile individual variability/heterogeneity self-regulation Index. décimale : PER Périodiques Résumé : The present study examined the link between poor self-regulation (measured by the child behavior checklist dysregulated profile [DP]) and core autism symptoms, as well as with developmental level, in a sample of 107 children with autism spectrum disorder (ASD) aged 19-46 months. We further examined the utility of DP in predicting individual differences in adaptive functioning, relative to the influence of ASD severity, chronological age (CA), and developmental level. Poor self-regulation was unrelated to CA, developmental level, and severity of ADOS-2 restricted and repetitive behaviors, but was associated with lower ADOS-2 social affect severity. Hierarchical regression identified poor self-regulation as a unique independent predictor of adaptive behavior, with more severe dysregulation predicting poorer adaptive functioning. Results highlight the importance of early identification of deficits in self-regulation, and more specifically, of the utility of DP, when designing individually tailored treatments for young children with ASD. Autism Res 2018, 11: 1157-1165. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study explored the relationship between poor self-regulation and age, verbal and non-verbal developmental level, severity of autism symptoms and adaptive functioning in 107 children with autism under 4 years of age. Poor self-regulation was unrelated to age, developmental level, and severity of restricted and repetitive behaviors but was associated with lower social affect severity. Importantly, more severe self-regulation deficits predicted poorer adaptive functioning. En ligne : http://dx.doi.org/10.1002/aur.1953 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 Performance of the Autism Observation Scale for Infants with community-ascertained infants showing early signs of autism / Kristelle HUDRY in Autism, 25-2 (February 2021)
[article]
Titre : Performance of the Autism Observation Scale for Infants with community-ascertained infants showing early signs of autism Type de document : Texte imprimé et/ou numérique Auteurs : Kristelle HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Maryam BOUTRUS, Auteur ; Sarah PILLAR, Auteur ; Emma K. BAKER, Auteur ; Stefanie DIMOV, Auteur ; Josephine BARBARO, Auteur ; Jonathan GREEN, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Kandice J. VARCIN, Auteur Article en page(s) : p.490-501 Langues : Anglais (eng) Mots-clés : developmental psychology diagnosis early signs individual variability/heterogeneity infants psychometrics Index. décimale : PER Périodiques Résumé : We investigated whether a commonly used research assessment - the Autism Observation Scale for Infants (AOSI) - accurately measures autism behaviours among infants showing early signs of autism identified within the community. The AOSI is often included in studies tracking the development of infants at increased likelihood of autism, such as the infant siblings of diagnosed children. However, the suitability of this measure has not previously been tested with community-referred infants. We administered the AOSI with infants when aged 9 to 14 months and again 6?months later. Our researchers - independent of the AOSI development team and newly trained on this measure - were able to administer the brief interactive assessment and score it accurately. The infants' AOSI scores were linked to their scores on other established and validated clinical assessments, particularly at the second visit when average age was 18?months. Stronger correspondence of AOSI and other scores at this second visit suggests early autism behaviours are better established and more consistent by 18?months of age, even though these infants showed clear enough signs of possible autism to prompt referral to our study around 12?months of age. However, the moderate association of AOSI scores over time suggests that, like infant siblings - who mostly do not develop autism - community-identified infants showing early signs may also have variable developmental pathways in early life. En ligne : http://dx.doi.org/10.1177/1362361320965397 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442
in Autism > 25-2 (February 2021) . - p.490-501[article] Performance of the Autism Observation Scale for Infants with community-ascertained infants showing early signs of autism [Texte imprimé et/ou numérique] / Kristelle HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Maryam BOUTRUS, Auteur ; Sarah PILLAR, Auteur ; Emma K. BAKER, Auteur ; Stefanie DIMOV, Auteur ; Josephine BARBARO, Auteur ; Jonathan GREEN, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Kandice J. VARCIN, Auteur . - p.490-501.
Langues : Anglais (eng)
in Autism > 25-2 (February 2021) . - p.490-501
Mots-clés : developmental psychology diagnosis early signs individual variability/heterogeneity infants psychometrics Index. décimale : PER Périodiques Résumé : We investigated whether a commonly used research assessment - the Autism Observation Scale for Infants (AOSI) - accurately measures autism behaviours among infants showing early signs of autism identified within the community. The AOSI is often included in studies tracking the development of infants at increased likelihood of autism, such as the infant siblings of diagnosed children. However, the suitability of this measure has not previously been tested with community-referred infants. We administered the AOSI with infants when aged 9 to 14 months and again 6?months later. Our researchers - independent of the AOSI development team and newly trained on this measure - were able to administer the brief interactive assessment and score it accurately. The infants' AOSI scores were linked to their scores on other established and validated clinical assessments, particularly at the second visit when average age was 18?months. Stronger correspondence of AOSI and other scores at this second visit suggests early autism behaviours are better established and more consistent by 18?months of age, even though these infants showed clear enough signs of possible autism to prompt referral to our study around 12?months of age. However, the moderate association of AOSI scores over time suggests that, like infant siblings - who mostly do not develop autism - community-identified infants showing early signs may also have variable developmental pathways in early life. En ligne : http://dx.doi.org/10.1177/1362361320965397 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442 Profiles of vocalization change in children with autism receiving early intervention / D. TREMBATH in Autism Research, 12-5 (May 2019)
[article]
Titre : Profiles of vocalization change in children with autism receiving early intervention Type de document : Texte imprimé et/ou numérique Auteurs : D. TREMBATH, Auteur ; Marleen F. WESTERVELD, Auteur ; S. TEPPALA, Auteur ; A. THIRUMANICKAM, Auteur ; R. SULEK, Auteur ; V. ROSE, Auteur ; M. TUCKER, Auteur ; J. PAYNTER, Auteur ; O. HETZRONI, Auteur ; D. KEEN, Auteur ; G. VIVANTI, Auteur Article en page(s) : p.830-842 Langues : Anglais (eng) Mots-clés : children individual variability/heterogeneity language longitudinal data analysis treatment Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) commonly present with comorbid language impairment, negatively impacting their learning and participation across settings. Addressing these needs requires a detailed understanding of their communication trajectories. In this study, we used the language environment and analysis (LENA) system to examine possible changes in children's (a) vocalizations and (b) ratio of speech to nonspeech vocalizations over a 10-month period. Data for 23 children with ASD (17M, 6F; ages 32-67 months) were analyzed, including monthly 3-hr in-class recordings and standardized measures of language, cognition, and ASD characteristics. Using hierarchical generalized linear models, we found significant time-trends for child vocalizations (P = 0.001) and the vocalization ratio (P = 0.02), reflecting a waxing and waning pattern. Children with higher expressive language scores (Mullen scales of early learning, Vineland adaptive behavior scales - 2nd Ed.) and nonverbal cognition (Mullen scales of early learning), and fewer ASD characteristics (social communication questionnaire) demonstrated greater increases in the vocalization ratio over time (P values 0.04-0.01). Children with greater language and cognition difficulties were the most vocal, but produced a higher proportion of nonspeech vocalizations. The results demonstrate that significant fluctuations, as opposed to linear increases, may be observed in children with ASD receiving intervention, highlighting the value of assessment at multiple time-points. In addition, the findings highlight the need to consider both the quantity (vocalization counts) and quality (ratio of speech to nonspeech vocalizations) when interpreting LENA data, with the latter appearing to provide a more robust measure of communication. Autism Research 2019, 12: 830-842. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY ABSTRACT: In this study, we examined possible changes in speech and nonspeech vocalizations in 23 children with autism attending a comprehensive early intervention program over a 10-month period. Contrary to our expectation, we observed a waxing and waning pattern of change in children's vocalizations over time, rather than a steady increase. We also found evidence to suggest that looking at the quality of children's vocalizations (i.e., the ratio of speech to nonspeech vocalizations) provides a more accurate picture of children's development than simply looking at the quantity (i.e., how frequently they vocalize). En ligne : http://dx.doi.org/10.1002/aur.2075 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=397
in Autism Research > 12-5 (May 2019) . - p.830-842[article] Profiles of vocalization change in children with autism receiving early intervention [Texte imprimé et/ou numérique] / D. TREMBATH, Auteur ; Marleen F. WESTERVELD, Auteur ; S. TEPPALA, Auteur ; A. THIRUMANICKAM, Auteur ; R. SULEK, Auteur ; V. ROSE, Auteur ; M. TUCKER, Auteur ; J. PAYNTER, Auteur ; O. HETZRONI, Auteur ; D. KEEN, Auteur ; G. VIVANTI, Auteur . - p.830-842.
Langues : Anglais (eng)
in Autism Research > 12-5 (May 2019) . - p.830-842
Mots-clés : children individual variability/heterogeneity language longitudinal data analysis treatment Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) commonly present with comorbid language impairment, negatively impacting their learning and participation across settings. Addressing these needs requires a detailed understanding of their communication trajectories. In this study, we used the language environment and analysis (LENA) system to examine possible changes in children's (a) vocalizations and (b) ratio of speech to nonspeech vocalizations over a 10-month period. Data for 23 children with ASD (17M, 6F; ages 32-67 months) were analyzed, including monthly 3-hr in-class recordings and standardized measures of language, cognition, and ASD characteristics. Using hierarchical generalized linear models, we found significant time-trends for child vocalizations (P = 0.001) and the vocalization ratio (P = 0.02), reflecting a waxing and waning pattern. Children with higher expressive language scores (Mullen scales of early learning, Vineland adaptive behavior scales - 2nd Ed.) and nonverbal cognition (Mullen scales of early learning), and fewer ASD characteristics (social communication questionnaire) demonstrated greater increases in the vocalization ratio over time (P values 0.04-0.01). Children with greater language and cognition difficulties were the most vocal, but produced a higher proportion of nonspeech vocalizations. The results demonstrate that significant fluctuations, as opposed to linear increases, may be observed in children with ASD receiving intervention, highlighting the value of assessment at multiple time-points. In addition, the findings highlight the need to consider both the quantity (vocalization counts) and quality (ratio of speech to nonspeech vocalizations) when interpreting LENA data, with the latter appearing to provide a more robust measure of communication. Autism Research 2019, 12: 830-842. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY ABSTRACT: In this study, we examined possible changes in speech and nonspeech vocalizations in 23 children with autism attending a comprehensive early intervention program over a 10-month period. Contrary to our expectation, we observed a waxing and waning pattern of change in children's vocalizations over time, rather than a steady increase. We also found evidence to suggest that looking at the quality of children's vocalizations (i.e., the ratio of speech to nonspeech vocalizations) provides a more accurate picture of children's development than simply looking at the quantity (i.e., how frequently they vocalize). En ligne : http://dx.doi.org/10.1002/aur.2075 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=397