Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism / Nana J. OKADA in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1002-1016 Titre : Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Nana J. OKADA, Auteur ; Janelle LIU, Auteur ; Tawny TSANG, Auteur ; Erin NOSCO, Auteur ; Nicole M. MCDONALD, Auteur ; Kaitlin K. CUMMINGS, Auteur ; Jiwon JUNG, Auteur ; Genevieve PATTERSON, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Shulamite A. GREEN, Auteur ; Shafali S JESTE, Auteur ; Mirella DAPRETTO, Auteur Article en page(s) : p.1002-1016 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnostic imaging  Autistic Disorder  Cerebellum/diagnostic imaging  Communication  Humans  Infant  Magnetic Resonance Imaging  Autism spectrum disorder  fMRI  infancy  social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: While the cerebellum is traditionally known for its role in sensorimotor control, emerging research shows that particular subregions, such as right Crus I (RCrusI), support language and social processing. Indeed, cerebellar atypicalities are commonly reported in autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by socio-communicative impairments. However, the cerebellum's contribution to early socio-communicative development remains virtually unknown. METHODS: Here, we characterized functional connectivity within cerebro-cerebellar networks implicated in language/social functions in 9-month-old infants who exhibit distinct 3-year socio-communicative developmental profiles. We employed a data-driven clustering approach to stratify our sample of infants at high (n=82) and low (n=37) familial risk for ASD into three cohorts-Delayed, Late-Blooming, and Typical-who showed unique socio-communicative trajectories. We then compared the cohorts on indices of language and social development. Seed-based functional connectivity analyses with RCrusI were conducted on infants with fMRI data (n=66). Cohorts were compared on connectivity estimates from a-priori regions, selected on the basis of reported coactivation with RCrusI during language/social tasks. RESULTS: The three trajectory-based cohorts broadly differed in social communication development, as evidenced by robust differences on numerous indices of language and social skills. Importantly, at 9months, the cohorts showed striking differences in cerebro-cerebellar circuits implicated in language/social functions. For all regions examined, the Delayed cohort exhibited significantly weaker RCrusI connectivity compared to both the Late-Blooming and Typical cohorts, with no significant differences between the latter cohorts. CONCLUSIONS: We show that hypoconnectivity within distinct cerebro-cerebellar networks in infancy predicts altered socio-communicative development before delays overtly manifest, which may be relevant for early detection and intervention. As the cerebellum is implicated in prediction, our findings point to probabilistic learning as a potential intermediary mechanism that may be disrupted in infancy, cascading into alterations in social communication. En ligne : http://dx.doi.org/10.1111/jcpp.13555 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism [Texte imprimé et/ou numérique] / Nana J. OKADA, Auteur ; Janelle LIU, Auteur ; Tawny TSANG, Auteur ; Erin NOSCO, Auteur ; Nicole M. MCDONALD, Auteur ; Kaitlin K. CUMMINGS, Auteur ; Jiwon JUNG, Auteur ; Genevieve PATTERSON, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Shulamite A. GREEN, Auteur ; Shafali S JESTE, Auteur ; Mirella DAPRETTO, Auteur . - p.1002-1016. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1002-1016 Mots-clés : Autism Spectrum Disorder/diagnostic imaging  Autistic Disorder  Cerebellum/diagnostic imaging  Communication  Humans  Infant  Magnetic Resonance Imaging  Autism spectrum disorder  fMRI  infancy  social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: While the cerebellum is traditionally known for its role in sensorimotor control, emerging research shows that particular subregions, such as right Crus I (RCrusI), support language and social processing. Indeed, cerebellar atypicalities are commonly reported in autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by socio-communicative impairments. However, the cerebellum's contribution to early socio-communicative development remains virtually unknown. METHODS: Here, we characterized functional connectivity within cerebro-cerebellar networks implicated in language/social functions in 9-month-old infants who exhibit distinct 3-year socio-communicative developmental profiles. We employed a data-driven clustering approach to stratify our sample of infants at high (n=82) and low (n=37) familial risk for ASD into three cohorts-Delayed, Late-Blooming, and Typical-who showed unique socio-communicative trajectories. We then compared the cohorts on indices of language and social development. Seed-based functional connectivity analyses with RCrusI were conducted on infants with fMRI data (n=66). Cohorts were compared on connectivity estimates from a-priori regions, selected on the basis of reported coactivation with RCrusI during language/social tasks. RESULTS: The three trajectory-based cohorts broadly differed in social communication development, as evidenced by robust differences on numerous indices of language and social skills. Importantly, at 9months, the cohorts showed striking differences in cerebro-cerebellar circuits implicated in language/social functions. For all regions examined, the Delayed cohort exhibited significantly weaker RCrusI connectivity compared to both the Late-Blooming and Typical cohorts, with no significant differences between the latter cohorts. CONCLUSIONS: We show that hypoconnectivity within distinct cerebro-cerebellar networks in infancy predicts altered socio-communicative development before delays overtly manifest, which may be relevant for early detection and intervention. As the cerebellum is implicated in prediction, our findings point to probabilistic learning as a potential intermediary mechanism that may be disrupted in infancy, cascading into alterations in social communication. En ligne : http://dx.doi.org/10.1111/jcpp.13555 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

Brief Report: The Development of Compliance in Toddlers at-Risk for Autism Spectrum Disorder / Naomi V. EKAS in Journal of Autism and Developmental Disorders, 47-4 (April 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1239-1248 Titre : Brief Report: The Development of Compliance in Toddlers at-Risk for Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Naomi V. EKAS, Auteur ; Nicole M. MCDONALD, Auteur ; Megan M. PRUITT, Auteur ; Daniel S. MESSINGER, Auteur Article en page(s) : p.1239-1248 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Longitudinal Infant siblings  Compliance  Restricted and repetitive behaviors Index. décimale : PER Périodiques Résumé : Parents of children with autism spectrum disorder (ASD) report concerns with child compliance. The development of compliance in 24-, 30-, and 36-month-old high-risk children with ASD outcomes (n?=?21), high-risk children without ASD (n?=?49), and low-risk children (n?=?41) was examined. The High-Risk/ASD group showed greater passive noncompliance at 24-months than the non-ASD groups and a smaller increase in compliance than the High-Risk/No ASD group. The High-Risk/ASD group also showed a smaller decline in active noncompliance than the Low-Risk group. After controlling for receptive language, the passive noncompliance findings were nonsignificant whereas compliance and active noncompliance findings retained significance. The growth of compliance is attenuated in children with ASD, while changes in passive noncompliance are in part associated with language comprehension. En ligne : http://dx.doi.org/10.1007/s10803-016-2984-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=305 [article] Brief Report: The Development of Compliance in Toddlers at-Risk for Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Naomi V. EKAS, Auteur ; Nicole M. MCDONALD, Auteur ; Megan M. PRUITT, Auteur ; Daniel S. MESSINGER, Auteur . - p.1239-1248. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1239-1248 Mots-clés : Autism spectrum disorder  Longitudinal Infant siblings  Compliance  Restricted and repetitive behaviors Index. décimale : PER Périodiques Résumé : Parents of children with autism spectrum disorder (ASD) report concerns with child compliance. The development of compliance in 24-, 30-, and 36-month-old high-risk children with ASD outcomes (n?=?21), high-risk children without ASD (n?=?49), and low-risk children (n?=?41) was examined. The High-Risk/ASD group showed greater passive noncompliance at 24-months than the non-ASD groups and a smaller increase in compliance than the High-Risk/No ASD group. The High-Risk/ASD group also showed a smaller decline in active noncompliance than the Low-Risk group. After controlling for receptive language, the passive noncompliance findings were nonsignificant whereas compliance and active noncompliance findings retained significance. The growth of compliance is attenuated in children with ASD, while changes in passive noncompliance are in part associated with language comprehension. En ligne : http://dx.doi.org/10.1007/s10803-016-2984-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=305

Early autism symptoms in infants with tuberous sclerosis complex / Nicole M. MCDONALD in Autism Research, 10-12 (December 2017)  

Public ISBD [article]  inAutism Research > 10-12 (December 2017) . - p.1981-1990 Titre : Early autism symptoms in infants with tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : Nicole M. MCDONALD, Auteur ; Kandice J. VARCIN, Auteur ; Rujuta BHATT, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Charles A. NELSON, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : p.1981-1990 Langues : Anglais (eng) Mots-clés : tuberous sclerosis complex  autism spectrum disorder  Autism Observation Scale for Infants  high-risk infants  early risk markers Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50–60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n?=?13) differed from TSC/no ASD infants (n?=?10) and infants with low developmental risk and no ASD (LR; n?=?21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981–1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. En ligne : http://dx.doi.org/10.1002/aur.1846 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323 [article] Early autism symptoms in infants with tuberous sclerosis complex [Texte imprimé et/ou numérique] / Nicole M. MCDONALD, Auteur ; Kandice J. VARCIN, Auteur ; Rujuta BHATT, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Charles A. NELSON, Auteur ; Shafali S. JESTE, Auteur . - p.1981-1990. Langues : Anglais (eng) in Autism Research > 10-12 (December 2017) . - p.1981-1990 Mots-clés : tuberous sclerosis complex  autism spectrum disorder  Autism Observation Scale for Infants  high-risk infants  early risk markers Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50–60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n?=?13) differed from TSC/no ASD infants (n?=?10) and infants with low developmental risk and no ASD (LR; n?=?21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981–1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. En ligne : http://dx.doi.org/10.1002/aur.1846 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323

Early developmental concerns in 22q11.2 deletion and duplication carriers / Eve S. KORTANEK in Research in Autism Spectrum Disorders, 97 (September 2022)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 97 (September 2022) . - 102026 Titre : Early developmental concerns in 22q11.2 deletion and duplication carriers Type de document : Texte imprimé et/ou numérique Auteurs : Eve S. KORTANEK, Auteur ; Nicole M. MCDONALD, Auteur ; Erin E. NOSCO, Auteur ; Gabrielle A. MACNAUGHTON, Auteur ; Amy LIN, Auteur ; Shafali S. JESTE, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : 102026 Langues : Anglais (eng) Mots-clés : Copy number variants  22q11.2  Early development  Developmental concerns  Social communication Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL (N = 63) or 22qDUP (N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires ”the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC) ”screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk. En ligne : https://doi.org/10.1016/j.rasd.2022.102026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Early developmental concerns in 22q11.2 deletion and duplication carriers [Texte imprimé et/ou numérique] / Eve S. KORTANEK, Auteur ; Nicole M. MCDONALD, Auteur ; Erin E. NOSCO, Auteur ; Gabrielle A. MACNAUGHTON, Auteur ; Amy LIN, Auteur ; Shafali S. JESTE, Auteur ; Carrie E. BEARDEN, Auteur . - 102026. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 97 (September 2022) . - 102026 Mots-clés : Copy number variants  22q11.2  Early development  Developmental concerns  Social communication Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL (N = 63) or 22qDUP (N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires ”the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC) ”screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk. En ligne : https://doi.org/10.1016/j.rasd.2022.102026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

Empathic responding in preschool-aged children with familial risk for autism / Nicole M. MCDONALD in Autism Research, 10-10 (October 2017)  

Public ISBD [article]  inAutism Research > 10-10 (October 2017) . - p.1621-1628 Titre : Empathic responding in preschool-aged children with familial risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Nicole M. MCDONALD, Auteur ; Haley G. MURPHY, Auteur ; Daniel S. MESSINGER, Auteur Article en page(s) : p.1621-1628 Langues : Anglais (eng) Mots-clés : empathic responding  high-risk siblings  autism spectrum disorder  preschool age  familial risk Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder (ASD) show deficits in social and emotional reciprocity, which often include empathic responding. The younger siblings of children with ASD (high-risk siblings) are at elevated risk for ASD and for subclinical deficits in social-emotional functioning. Higher levels of empathy in high-risk siblings during the second and third years of life predict fewer ASD symptoms and likelihood of diagnosis. We conducted a multi-method investigation of empathic responding to an examiner's accident in 30 low-risk and 48 high-risk siblings with (n?=?12) and without ASD outcomes (n?=?36) at 4–6 years of age. Empathic responding was measured through behavioral observation and parent report. Prosocial behavior did not differ by ASD outcome. Children with ASD exhibited lower levels of personal distress than high-risk and low-risk siblings without ASD. Per parent report, high-risk siblings without ASD demonstrated higher levels of empathic responding than low-risk children, while the ASD group did not differ from children without ASD on this measure. Higher levels of observed empathic concern, but not prosocial behavior, were associated with lower Social Affect scores on the Autism Diagnostic Observation Schedule in high-risk children. Results suggest that ASD diagnosis and symptoms are associated with reduced emotional responsiveness to an adult's distress, but not associated with deficits in prosocial behavior at preschool age. Results do not support the idea that empathic responding is negatively impacted in a broader autism phenotype. Findings extend previous research by suggesting that empathy may be a protective factor in the social-emotional development of children with familial risk for ASD. Autism Res 2017, 10: 1621–1628. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1819 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322 [article] Empathic responding in preschool-aged children with familial risk for autism [Texte imprimé et/ou numérique] / Nicole M. MCDONALD, Auteur ; Haley G. MURPHY, Auteur ; Daniel S. MESSINGER, Auteur . - p.1621-1628. Langues : Anglais (eng) in Autism Research > 10-10 (October 2017) . - p.1621-1628 Mots-clés : empathic responding  high-risk siblings  autism spectrum disorder  preschool age  familial risk Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder (ASD) show deficits in social and emotional reciprocity, which often include empathic responding. The younger siblings of children with ASD (high-risk siblings) are at elevated risk for ASD and for subclinical deficits in social-emotional functioning. Higher levels of empathy in high-risk siblings during the second and third years of life predict fewer ASD symptoms and likelihood of diagnosis. We conducted a multi-method investigation of empathic responding to an examiner's accident in 30 low-risk and 48 high-risk siblings with (n?=?12) and without ASD outcomes (n?=?36) at 4–6 years of age. Empathic responding was measured through behavioral observation and parent report. Prosocial behavior did not differ by ASD outcome. Children with ASD exhibited lower levels of personal distress than high-risk and low-risk siblings without ASD. Per parent report, high-risk siblings without ASD demonstrated higher levels of empathic responding than low-risk children, while the ASD group did not differ from children without ASD on this measure. Higher levels of observed empathic concern, but not prosocial behavior, were associated with lower Social Affect scores on the Autism Diagnostic Observation Schedule in high-risk children. Results suggest that ASD diagnosis and symptoms are associated with reduced emotional responsiveness to an adult's distress, but not associated with deficits in prosocial behavior at preschool age. Results do not support the idea that empathic responding is negatively impacted in a broader autism phenotype. Findings extend previous research by suggesting that empathy may be a protective factor in the social-emotional development of children with familial risk for ASD. Autism Res 2017, 10: 1621–1628. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1819 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322

Empathic Responding in Toddlers at Risk for an Autism Spectrum Disorder / Nicole M. MCDONALD in Journal of Autism and Developmental Disorders, 42-8 (August 2012)  

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