Dépouillements

Behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of autism spectrum disorder and/or attention deficit hyperactivity disorder / Elena Serena PICCARDI in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of autism spectrum disorder and/or attention deficit hyperactivity disorder Type de document : texte imprimé Auteurs : Elena Serena PICCARDI, Auteur ; Jannath BEGUM ALI, Auteur ; Emily J.H. JONES, Auteur ; Luke MASON, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Teodora GLIGA, Auteur ; BASIS/STAARS TEAM, Auteur Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity  Autism Spectrum Disorder  Humans  Infant  Perception  Phenotype  Protective Factors  Alpha amplitude desynchronization  Attention deficit hyperactivity disorder  Autism spectrum disorder  Eeg  Infant sibling design  Repetition suppression  Tactile sensory processing  Tactile sensory seeking Index. décimale : PER Périodiques Résumé : BACKGROUNDS: Atypicalities in tactile processing are reported in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) but it remains unknown if they precede and associate with the traits of these disorders emerging in childhood. We investigated behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of ASD and/or ADHD compared to infants at typical likelihood of the disorders. Further, we assessed the specificity of associations between infant markers and later ASD or ADHD traits. METHODS: Ninety-one 10-month-old infants participated in the study (n = 44 infants at elevated likelihood of ASD; n = 20 infants at elevated likelihood of ADHD; n = 9 infants at elevated likelihood of ASD and ADHD; n = 18 infants at typical likelihood of the disorders). Behavioural and EEG responses to pairs of tactile stimuli were experimentally recorded and concurrent parental reports of tactile responsiveness were collected. ASD and ADHD traits were measured at 24 months through standardized assessment (ADOS-2) and parental report (ECBQ), respectively. RESULTS: There was no effect of infants' likelihood status on behavioural markers of tactile sensory processing. Conversely, increased ASD likelihood associated with reduced neural repetition suppression to tactile input. Reduced neural repetition suppression at 10 months significantly predicted ASD (but not ADHD) traits at 24 months across the entire sample. Elevated tactile sensory seeking at 10 months moderated the relationship between early reduced neural repetition suppression and later ASD traits. CONCLUSIONS: Reduced tactile neural repetition suppression is an early marker of later ASD traits in infants at elevated likelihood of ASD or ADHD, suggesting that a common pathway to later ASD traits exists despite different familial backgrounds. Elevated tactile sensory seeking may act as a protective factor, mitigating the relationship between early tactile neural repetition suppression and later ASD traits. En ligne : https://dx.doi.org/10.1186/s11689-020-09334-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of autism spectrum disorder and/or attention deficit hyperactivity disorder [texte imprimé] / Elena Serena PICCARDI, Auteur ; Jannath BEGUM ALI, Auteur ; Emily J.H. JONES, Auteur ; Luke MASON, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Teodora GLIGA, Auteur ; BASIS/STAARS TEAM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Attention Deficit Disorder with Hyperactivity  Autism Spectrum Disorder  Humans  Infant  Perception  Phenotype  Protective Factors  Alpha amplitude desynchronization  Attention deficit hyperactivity disorder  Autism spectrum disorder  Eeg  Infant sibling design  Repetition suppression  Tactile sensory processing  Tactile sensory seeking Index. décimale : PER Périodiques Résumé : BACKGROUNDS: Atypicalities in tactile processing are reported in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) but it remains unknown if they precede and associate with the traits of these disorders emerging in childhood. We investigated behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of ASD and/or ADHD compared to infants at typical likelihood of the disorders. Further, we assessed the specificity of associations between infant markers and later ASD or ADHD traits. METHODS: Ninety-one 10-month-old infants participated in the study (n = 44 infants at elevated likelihood of ASD; n = 20 infants at elevated likelihood of ADHD; n = 9 infants at elevated likelihood of ASD and ADHD; n = 18 infants at typical likelihood of the disorders). Behavioural and EEG responses to pairs of tactile stimuli were experimentally recorded and concurrent parental reports of tactile responsiveness were collected. ASD and ADHD traits were measured at 24 months through standardized assessment (ADOS-2) and parental report (ECBQ), respectively. RESULTS: There was no effect of infants' likelihood status on behavioural markers of tactile sensory processing. Conversely, increased ASD likelihood associated with reduced neural repetition suppression to tactile input. Reduced neural repetition suppression at 10 months significantly predicted ASD (but not ADHD) traits at 24 months across the entire sample. Elevated tactile sensory seeking at 10 months moderated the relationship between early reduced neural repetition suppression and later ASD traits. CONCLUSIONS: Reduced tactile neural repetition suppression is an early marker of later ASD traits in infants at elevated likelihood of ASD or ADHD, suggesting that a common pathway to later ASD traits exists despite different familial backgrounds. Elevated tactile sensory seeking may act as a protective factor, mitigating the relationship between early tactile neural repetition suppression and later ASD traits. En ligne : https://dx.doi.org/10.1186/s11689-020-09334-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Controlling litter effects to enhance rigor and reproducibility with rodent models of neurodevelopmental disorders / Jessica A. JIMÉNEZ in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Controlling litter effects to enhance rigor and reproducibility with rodent models of neurodevelopmental disorders Type de document : texte imprimé Auteurs : Jessica A. JIMÉNEZ, Auteur ; Mark J. ZYLKA, Auteur Langues : Anglais (eng) Mots-clés : Animals  Female  Haploinsufficiency  Mice  Neurodevelopmental Disorders/chemically induced/genetics  Phenotype  Pregnancy  Reproducibility of Results  Animal models  Litter effect  Neurodevelopmental disorders  Rigor and reproducibility Index. décimale : PER Périodiques Résumé : Research with rodents is crucial for expanding our understanding of genetic and environmental risk factors for neurodevelopmental disorders (NDD). However, there is growing concern about the number of animal studies that are difficult to replicate, potentially undermining the validity of results. These concerns have prompted funding agencies and academic journals to implement more rigorous standards in an effort to increase reproducibility in research. However, these standards fail to address a major source of variability in rodent research brought on by the "litter effect," the fact that rodents from the same litter are phenotypically more similar to one other than rodents from different litters of the same strain. We show that the litter effect accounts for 30-60% of the variability associated with commonly studied phenotypes, including brain, placenta, and body weight. Moreover, we show how failure to control for litter-to-litter variation can mask a phenotype in Chd8(V986*/+) mice that model haploinsufficiency of CHD8, a high-confidence autism gene. Thus, if not properly controlled, the litter effect has the potential to negatively influence rigor and reproducibility of NDD research. While efforts have been made to educate scientists on the importance of controlling for litter effects in previous publications, our analysis of the recent literature (2015-2020) shows that the vast majority of NDD studies focused on genetic risks, including mutant mouse studies, and environmental risks, such as air pollution and valproic acid exposure, do not correct for litter effects or report information on the number of litters used. We outline best practices to help scientists minimize the impact of litter-to-litter variability and to enhance rigor and reproducibility in future NDD studies using rodent models. En ligne : https://dx.doi.org/10.1186/s11689-020-09353-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Controlling litter effects to enhance rigor and reproducibility with rodent models of neurodevelopmental disorders [texte imprimé] / Jessica A. JIMÉNEZ, Auteur ; Mark J. ZYLKA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Animals  Female  Haploinsufficiency  Mice  Neurodevelopmental Disorders/chemically induced/genetics  Phenotype  Pregnancy  Reproducibility of Results  Animal models  Litter effect  Neurodevelopmental disorders  Rigor and reproducibility Index. décimale : PER Périodiques Résumé : Research with rodents is crucial for expanding our understanding of genetic and environmental risk factors for neurodevelopmental disorders (NDD). However, there is growing concern about the number of animal studies that are difficult to replicate, potentially undermining the validity of results. These concerns have prompted funding agencies and academic journals to implement more rigorous standards in an effort to increase reproducibility in research. However, these standards fail to address a major source of variability in rodent research brought on by the "litter effect," the fact that rodents from the same litter are phenotypically more similar to one other than rodents from different litters of the same strain. We show that the litter effect accounts for 30-60% of the variability associated with commonly studied phenotypes, including brain, placenta, and body weight. Moreover, we show how failure to control for litter-to-litter variation can mask a phenotype in Chd8(V986*/+) mice that model haploinsufficiency of CHD8, a high-confidence autism gene. Thus, if not properly controlled, the litter effect has the potential to negatively influence rigor and reproducibility of NDD research. While efforts have been made to educate scientists on the importance of controlling for litter effects in previous publications, our analysis of the recent literature (2015-2020) shows that the vast majority of NDD studies focused on genetic risks, including mutant mouse studies, and environmental risks, such as air pollution and valproic acid exposure, do not correct for litter effects or report information on the number of litters used. We outline best practices to help scientists minimize the impact of litter-to-litter variability and to enhance rigor and reproducibility in future NDD studies using rodent models. En ligne : https://dx.doi.org/10.1186/s11689-020-09353-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Development of an adapted Clinical Global Impression scale for use in Angelman syndrome / Alexander KOLEVZON in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Development of an adapted Clinical Global Impression scale for use in Angelman syndrome Type de document : texte imprimé Auteurs : Alexander KOLEVZON, Auteur ; Pamela VENTOLA, Auteur ; Christopher J. KEARY, Auteur ; Gali HEIMER, Auteur ; Jeffrey L. NEUL, Auteur ; Mathews ADERA, Auteur ; Judith JAEGER, Auteur Langues : Anglais (eng) Mots-clés : Angelman Syndrome  Caregivers  Humans  Reproducibility of Results  Severity of Illness Index Index. décimale : PER Périodiques Résumé : BACKGROUND: The Clinical Global Impression-Severity (CGI-S) and CGI-Improvement (CGI-I) scales are widely accepted tools that measure overall disease severity and change, synthesizing the clinician's impression of the global state of an individual. Frequently employed in clinical trials for neuropsychiatric disorders, the CGI scales are typically used in conjunction with disease-specific rating scales. When no disease-specific rating scale is available, the CGI scales can be adapted to reflect the specific symptom domains that are relevant to the disorder. Angelman syndrome (AS) is a rare, clinically heterogeneous condition for which there is no disease-specific rating scale. This paper describes efforts to develop standardized, adapted CGI scales specific to AS for use in clinical trials. METHODS: In order to develop adapted CGI scales specific to AS, we (1) reviewed literature and interviewed caregivers and clinicians to determine the most impactful symptoms, (2) engaged expert panels to define and operationalize the symptom domains identified, (3) developed detailed rating anchors for each domain and for global severity and improvement ratings, (4) reviewed the anchors with expert clinicians and established minimally clinically meaningful change for each symptom domain, and (5) generated mock patient vignettes to test the reliability of the resulting scales and to standardize rater training. This systematic approach to developing, validating, and training raters on a standardized, adapted CGI scale specifically for AS is described herein. RESULTS: The resulting CGI-S/I-AS scales capture six critical domains (behavior, gross and fine motor function, expressive and receptive communication, and sleep) defined by caregivers and expert clinicians as the most challenging for patients with AS and their families. CONCLUSIONS: Rigorous training and careful calibration for clinicians will allow the CGI-S/-I-AS scales to be reliable in the context of randomized controlled trials. The CGI-S/-I-AS scales are being utilized in a Phase 3 trial of gaboxadol for the treatment of AS. En ligne : https://dx.doi.org/10.1186/s11689-020-09349-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Development of an adapted Clinical Global Impression scale for use in Angelman syndrome [texte imprimé] / Alexander KOLEVZON, Auteur ; Pamela VENTOLA, Auteur ; Christopher J. KEARY, Auteur ; Gali HEIMER, Auteur ; Jeffrey L. NEUL, Auteur ; Mathews ADERA, Auteur ; Judith JAEGER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Angelman Syndrome  Caregivers  Humans  Reproducibility of Results  Severity of Illness Index Index. décimale : PER Périodiques Résumé : BACKGROUND: The Clinical Global Impression-Severity (CGI-S) and CGI-Improvement (CGI-I) scales are widely accepted tools that measure overall disease severity and change, synthesizing the clinician's impression of the global state of an individual. Frequently employed in clinical trials for neuropsychiatric disorders, the CGI scales are typically used in conjunction with disease-specific rating scales. When no disease-specific rating scale is available, the CGI scales can be adapted to reflect the specific symptom domains that are relevant to the disorder. Angelman syndrome (AS) is a rare, clinically heterogeneous condition for which there is no disease-specific rating scale. This paper describes efforts to develop standardized, adapted CGI scales specific to AS for use in clinical trials. METHODS: In order to develop adapted CGI scales specific to AS, we (1) reviewed literature and interviewed caregivers and clinicians to determine the most impactful symptoms, (2) engaged expert panels to define and operationalize the symptom domains identified, (3) developed detailed rating anchors for each domain and for global severity and improvement ratings, (4) reviewed the anchors with expert clinicians and established minimally clinically meaningful change for each symptom domain, and (5) generated mock patient vignettes to test the reliability of the resulting scales and to standardize rater training. This systematic approach to developing, validating, and training raters on a standardized, adapted CGI scale specifically for AS is described herein. RESULTS: The resulting CGI-S/I-AS scales capture six critical domains (behavior, gross and fine motor function, expressive and receptive communication, and sleep) defined by caregivers and expert clinicians as the most challenging for patients with AS and their families. CONCLUSIONS: Rigorous training and careful calibration for clinicians will allow the CGI-S/-I-AS scales to be reliable in the context of randomized controlled trials. The CGI-S/-I-AS scales are being utilized in a Phase 3 trial of gaboxadol for the treatment of AS. En ligne : https://dx.doi.org/10.1186/s11689-020-09349-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Read my lips! Perception of speech in noise by preschool children with autism and the impact of watching the speaker's face / Rochelle S. NEWMAN in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Read my lips! Perception of speech in noise by preschool children with autism and the impact of watching the speaker's face Type de document : texte imprimé Auteurs : Rochelle S. NEWMAN, Auteur ; Laura A. KIRBY, Auteur ; Katie VON HOLZEN, Auteur ; Elizabeth REDCAY, Auteur Langues : Anglais (eng) Mots-clés : Auditory Perception  Autism Spectrum Disorder  Autistic Disorder  Child, Preschool  Female  Humans  Lip  Male  Speech  Autism  Face  Noise  Speech perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Adults and adolescents with autism spectrum disorders show greater difficulties comprehending speech in the presence of noise. Moreover, while neurotypical adults use visual cues on the mouth to help them understand speech in background noise, differences in attention to human faces in autism may affect use of these visual cues. No work has yet examined these skills in toddlers with ASD, despite the fact that they are frequently faced with noisy, multitalker environments. METHODS: Children aged 2-5 years, both with and without autism spectrum disorder (ASD), saw pairs of images in a preferential looking study and were instructed to look at one of the two objects. Sentences were presented in the presence of quiet or another background talker (noise). On half of the trials, the face of the target person speaking was presented, while half had no face present. Growth-curve modeling was used to examine the time course of children's looking to the appropriate vs. opposite image. RESULTS: Noise impaired performance for both children with ASD and their age- and language-matched peers. When there was no face present on the screen, the effect of noise was generally similar across groups with and without ASD. But when the face was present, the noise had a more detrimental effect on children with ASD than their language-matched peers, suggesting neurotypical children were better able to use visual cues on the speaker's face to aid performance. Moreover, those children with ASD who attended more to the speaker's face showed better listening performance in the presence of noise. CONCLUSIONS: Young children both with and without ASD show poorer performance comprehending speech in the presence of another talker than in quiet. However, results suggest that neurotypical children may be better able to make use of face cues to partially counteract the effects of noise. Children with ASD varied in their use of face cues, but those children who spent more time attending to the face of the target speaker appeared less disadvantaged by the presence of background noise, indicating a potential path for future interventions. En ligne : https://dx.doi.org/10.1186/s11689-020-09348-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Read my lips! Perception of speech in noise by preschool children with autism and the impact of watching the speaker's face [texte imprimé] / Rochelle S. NEWMAN, Auteur ; Laura A. KIRBY, Auteur ; Katie VON HOLZEN, Auteur ; Elizabeth REDCAY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Auditory Perception  Autism Spectrum Disorder  Autistic Disorder  Child, Preschool  Female  Humans  Lip  Male  Speech  Autism  Face  Noise  Speech perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Adults and adolescents with autism spectrum disorders show greater difficulties comprehending speech in the presence of noise. Moreover, while neurotypical adults use visual cues on the mouth to help them understand speech in background noise, differences in attention to human faces in autism may affect use of these visual cues. No work has yet examined these skills in toddlers with ASD, despite the fact that they are frequently faced with noisy, multitalker environments. METHODS: Children aged 2-5 years, both with and without autism spectrum disorder (ASD), saw pairs of images in a preferential looking study and were instructed to look at one of the two objects. Sentences were presented in the presence of quiet or another background talker (noise). On half of the trials, the face of the target person speaking was presented, while half had no face present. Growth-curve modeling was used to examine the time course of children's looking to the appropriate vs. opposite image. RESULTS: Noise impaired performance for both children with ASD and their age- and language-matched peers. When there was no face present on the screen, the effect of noise was generally similar across groups with and without ASD. But when the face was present, the noise had a more detrimental effect on children with ASD than their language-matched peers, suggesting neurotypical children were better able to use visual cues on the speaker's face to aid performance. Moreover, those children with ASD who attended more to the speaker's face showed better listening performance in the presence of noise. CONCLUSIONS: Young children both with and without ASD show poorer performance comprehending speech in the presence of another talker than in quiet. However, results suggest that neurotypical children may be better able to make use of face cues to partially counteract the effects of noise. Children with ASD varied in their use of face cues, but those children who spent more time attending to the face of the target speaker appeared less disadvantaged by the presence of background noise, indicating a potential path for future interventions. En ligne : https://dx.doi.org/10.1186/s11689-020-09348-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Associations between sensory processing and electrophysiological and neurochemical measures in children with ASD: an EEG-MRS study / Sarah PIERCE in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Associations between sensory processing and electrophysiological and neurochemical measures in children with ASD: an EEG-MRS study Type de document : texte imprimé Auteurs : Sarah PIERCE, Auteur ; Girija KADLASKAR, Auteur ; David A. EDMONDSON, Auteur ; Rebecca MCNALLY KEEHN, Auteur ; Ulrike DYDAK, Auteur ; Brandon KEEHN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder/diagnostic imaging  Child  Electroencephalography  Female  Humans  Magnetic Resonance Imaging  Magnetic Resonance Spectroscopy  Male  Perception  Alpha power  Autism spectrum disorder  Eeg  Gaba  Glutamate  Mrs  Sensory processing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is associated with hyper- and/or hypo-sensitivity to sensory input. Spontaneous alpha power, which plays an important role in shaping responsivity to sensory information, is reduced across the lifespan in individuals with ASD. Furthermore, an excitatory/inhibitory imbalance has also been linked to sensory dysfunction in ASD and has been hypothesized to underlie atypical patterns of spontaneous brain activity. The present study examined whether resting-state alpha power differed in children with ASD as compared to TD children, and investigated the relationships between alpha levels, concentrations of excitatory and inhibitory neurotransmitters, and atypical sensory processing in ASD. METHODS: Participants included thirty-one children and adolescents with ASD and thirty-one age- and IQ-matched typically developing (TD) participants. Resting-state electroencephalography (EEG) was used to obtain measures of alpha power. A subset of participants (ASD = 16; TD = 16) also completed a magnetic resonance spectroscopy (MRS) protocol in order to measure concentrations of excitatory (glutamate + glutamine; Glx) and inhibitory (GABA) neurotransmitters. RESULTS: Children with ASD evidenced significantly decreased resting alpha power compared to their TD peers. MRS estimates of GABA and Glx did not differ between groups with the exception of Glx in the temporal-parietal junction. Inter-individual differences in alpha power within the ASD group were not associated with region-specific concentrations of GABA or Glx, nor were they associated with sensory processing differences. However, atypically decreased Glx was associated with increased sensory impairment in children with ASD. CONCLUSIONS: Although we replicated prior reports of decreased alpha power in ASD, atypically reduced alpha was not related to neurochemical differences or sensory symptoms in ASD. Instead, reduced Glx in the temporal-parietal cortex was associated with greater hyper-sensitivity in ASD. Together, these findings may provide insight into the neural underpinnings of sensory processing differences present in ASD. En ligne : https://dx.doi.org/10.1186/s11689-020-09351-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Associations between sensory processing and electrophysiological and neurochemical measures in children with ASD: an EEG-MRS study [texte imprimé] / Sarah PIERCE, Auteur ; Girija KADLASKAR, Auteur ; David A. EDMONDSON, Auteur ; Rebecca MCNALLY KEEHN, Auteur ; Ulrike DYDAK, Auteur ; Brandon KEEHN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Autism Spectrum Disorder/diagnostic imaging  Child  Electroencephalography  Female  Humans  Magnetic Resonance Imaging  Magnetic Resonance Spectroscopy  Male  Perception  Alpha power  Autism spectrum disorder  Eeg  Gaba  Glutamate  Mrs  Sensory processing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is associated with hyper- and/or hypo-sensitivity to sensory input. Spontaneous alpha power, which plays an important role in shaping responsivity to sensory information, is reduced across the lifespan in individuals with ASD. Furthermore, an excitatory/inhibitory imbalance has also been linked to sensory dysfunction in ASD and has been hypothesized to underlie atypical patterns of spontaneous brain activity. The present study examined whether resting-state alpha power differed in children with ASD as compared to TD children, and investigated the relationships between alpha levels, concentrations of excitatory and inhibitory neurotransmitters, and atypical sensory processing in ASD. METHODS: Participants included thirty-one children and adolescents with ASD and thirty-one age- and IQ-matched typically developing (TD) participants. Resting-state electroencephalography (EEG) was used to obtain measures of alpha power. A subset of participants (ASD = 16; TD = 16) also completed a magnetic resonance spectroscopy (MRS) protocol in order to measure concentrations of excitatory (glutamate + glutamine; Glx) and inhibitory (GABA) neurotransmitters. RESULTS: Children with ASD evidenced significantly decreased resting alpha power compared to their TD peers. MRS estimates of GABA and Glx did not differ between groups with the exception of Glx in the temporal-parietal junction. Inter-individual differences in alpha power within the ASD group were not associated with region-specific concentrations of GABA or Glx, nor were they associated with sensory processing differences. However, atypically decreased Glx was associated with increased sensory impairment in children with ASD. CONCLUSIONS: Although we replicated prior reports of decreased alpha power in ASD, atypically reduced alpha was not related to neurochemical differences or sensory symptoms in ASD. Instead, reduced Glx in the temporal-parietal cortex was associated with greater hyper-sensitivity in ASD. Together, these findings may provide insight into the neural underpinnings of sensory processing differences present in ASD. En ligne : https://dx.doi.org/10.1186/s11689-020-09351-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Evidence for decreased parasympathetic response to a novel peer interaction in older children with autism spectrum disorder: a case-control study / Rachael A. MUSCATELLO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Evidence for decreased parasympathetic response to a novel peer interaction in older children with autism spectrum disorder: a case-control study Type de document : texte imprimé Auteurs : Rachael A. MUSCATELLO, Auteur ; Simon N. VANDEKAR, Auteur ; Blythe A. CORBETT, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder  Autonomic Nervous System  Case-Control Studies  Child  Humans  Respiratory Sinus Arrhythmia  Social Behavior  Age  Autism spectrum disorder  Pre-ejection period  Respiratory sinus arrhythmia  Social  Stress Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with autism spectrum disorder (ASD) often experience elevated stress during social interactions and may have difficulty forming and maintaining peer relationships. The autonomic nervous system (ANS) directs physiological changes in the body in response to a number of environmental stimuli, including social encounters. Evidence suggests the flexibility of the ANS response is an important driving factor in shaping social behavior. For youth with ASD, increased stress response and/or atypical ANS regulation to benign social encounters may therefore influence social behaviors, and, along with developmental and experiential factors, shape psychological outcomes. METHODS: The current study measured ANS response to a peer-based social interaction paradigm in 50 typically developing (TD) children and 50 children with ASD (ages 10-13). Respiratory sinus arrhythmia (RSA), a cardiac measure of parasympathetic influence on the heart, and pre-ejection period (PEP), a sympathetic indicator, were collected. Participants engaged in a friendly, face-to-face conversation with a novel, same-aged peer, and physiological data were collected continuously before and during the interaction. Participants also reported on state anxiety following the interaction, while parents reported on the child's social functioning and number of social difficulties. RESULTS: Linear mixed models revealed that, while there were no diagnostic effects for RSA or PEP, older youth with ASD appeared to demonstrate a blunted parasympathetic (RSA) response. Further, increased severity of parent-reported social symptoms was associated with lower RSA. Youth with ASD reported more anxiety following the interaction; however, symptoms were not related to RSA or PEP response based on linear mixed modeling. CONCLUSIONS: Physiological regulation, age, and social functioning likely influence stress responses to peer interactions for youth with ASD. Parasympathetic functioning, as opposed to sympathetic arousal, may be especially important in behavioral regulation, as older youth with ASD demonstrated atypical regulation and response to the social interaction paradigm. Future studies should help to further elucidate the developmental factors contributing to stress responses in ASD, the impact of physiological response on observable social behavior, and potential long-term consequences of chronic social stress in youth with ASD. En ligne : https://dx.doi.org/10.1186/s11689-020-09354-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Evidence for decreased parasympathetic response to a novel peer interaction in older children with autism spectrum disorder: a case-control study [texte imprimé] / Rachael A. MUSCATELLO, Auteur ; Simon N. VANDEKAR, Auteur ; Blythe A. CORBETT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Autism Spectrum Disorder  Autonomic Nervous System  Case-Control Studies  Child  Humans  Respiratory Sinus Arrhythmia  Social Behavior  Age  Autism spectrum disorder  Pre-ejection period  Respiratory sinus arrhythmia  Social  Stress Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with autism spectrum disorder (ASD) often experience elevated stress during social interactions and may have difficulty forming and maintaining peer relationships. The autonomic nervous system (ANS) directs physiological changes in the body in response to a number of environmental stimuli, including social encounters. Evidence suggests the flexibility of the ANS response is an important driving factor in shaping social behavior. For youth with ASD, increased stress response and/or atypical ANS regulation to benign social encounters may therefore influence social behaviors, and, along with developmental and experiential factors, shape psychological outcomes. METHODS: The current study measured ANS response to a peer-based social interaction paradigm in 50 typically developing (TD) children and 50 children with ASD (ages 10-13). Respiratory sinus arrhythmia (RSA), a cardiac measure of parasympathetic influence on the heart, and pre-ejection period (PEP), a sympathetic indicator, were collected. Participants engaged in a friendly, face-to-face conversation with a novel, same-aged peer, and physiological data were collected continuously before and during the interaction. Participants also reported on state anxiety following the interaction, while parents reported on the child's social functioning and number of social difficulties. RESULTS: Linear mixed models revealed that, while there were no diagnostic effects for RSA or PEP, older youth with ASD appeared to demonstrate a blunted parasympathetic (RSA) response. Further, increased severity of parent-reported social symptoms was associated with lower RSA. Youth with ASD reported more anxiety following the interaction; however, symptoms were not related to RSA or PEP response based on linear mixed modeling. CONCLUSIONS: Physiological regulation, age, and social functioning likely influence stress responses to peer interactions for youth with ASD. Parasympathetic functioning, as opposed to sympathetic arousal, may be especially important in behavioral regulation, as older youth with ASD demonstrated atypical regulation and response to the social interaction paradigm. Future studies should help to further elucidate the developmental factors contributing to stress responses in ASD, the impact of physiological response on observable social behavior, and potential long-term consequences of chronic social stress in youth with ASD. En ligne : https://dx.doi.org/10.1186/s11689-020-09354-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Longitudinal change in restricted and repetitive behaviors from 8-36 months / Robin SIFRE in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Longitudinal change in restricted and repetitive behaviors from 8-36 months Type de document : texte imprimé Auteurs : Robin SIFRE, Auteur ; Daniel BERRY, Auteur ; Jason J. WOLFF, Auteur ; Jed T. ELISON, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Child  Child, Preschool  Cognition  Female  Humans  Stereotyped Behavior  Surveys and Questionnaires Index. décimale : PER Périodiques Résumé : BACKGROUND: Restricted and repetitive behaviors (RRBs) are core features of autism spectrum disorder (ASD) and one of the earliest behavioral signs of ASD. However, RRBs are also present in typically developing (TD) infants, toddlers, and preschool-aged children. Past work suggests that examining change in these behaviors over time is essential to distinguish between normative manifestations of these behaviors and behaviors that denote risk for a neurodevelopmental disorder. One challenge in examining changes in these behaviors over time is that most measures of RRBs have not established longitudinal measurement invariance. The aims of this study were to (1) establish measurement invariance in the Repetitive Behavior Scales for Early Childhood (RBS-EC), a parent-report questionnaire of RRBs, and (2) model developmental change in RRBs from 8 to 36 months. METHODS: We collected RBS-EC responses from parents of TD infants (n = 180) from 8 to 36 months (n = 606 responses, with participants contributing an average of 3-time points). We leverage a novel methodological approach to measurement invariance testing (Bauer, Psychological Models, 22(3), 507-526, 2017), moderated nonlinear factor analysis (MNLFA), to determine whether the RBS-EC was invariant across age and sex. We then generated adjusted factor score estimates for each subscale of the RBS-EC (repetitive motor, self-directed, and higher-order behaviors), and used linear mixed effects models to estimate between- and within-person changes in the RBS-EC over time. RESULTS: The RBS-EC showed some non-invariance as a function of age. We were able to adjust for this non-invariance in order to more accurately model changes in the RBS-EC over time. Repetitive motor and self-directed behaviors showed a linear decline from 8 to 36 months, while higher-order behaviors showed a quadratic trajectory such that they began to decline later in development at around 18 months. Using adjusted factor scores as opposed to unadjusted raw mean scores provided a number of benefits, including increased within-person variability and precision. CONCLUSIONS: The RBS-EC is sensitive enough to measure the presence of RRBs in a TD sample, as well as their decline with age. Using factor score estimates of each subscale adjusted for non-invariance allowed us to more precisely estimate change in these behaviors over time. En ligne : https://dx.doi.org/10.1186/s11689-020-09335-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Longitudinal change in restricted and repetitive behaviors from 8-36 months [texte imprimé] / Robin SIFRE, Auteur ; Daniel BERRY, Auteur ; Jason J. WOLFF, Auteur ; Jed T. ELISON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder  Child  Child, Preschool  Cognition  Female  Humans  Stereotyped Behavior  Surveys and Questionnaires Index. décimale : PER Périodiques Résumé : BACKGROUND: Restricted and repetitive behaviors (RRBs) are core features of autism spectrum disorder (ASD) and one of the earliest behavioral signs of ASD. However, RRBs are also present in typically developing (TD) infants, toddlers, and preschool-aged children. Past work suggests that examining change in these behaviors over time is essential to distinguish between normative manifestations of these behaviors and behaviors that denote risk for a neurodevelopmental disorder. One challenge in examining changes in these behaviors over time is that most measures of RRBs have not established longitudinal measurement invariance. The aims of this study were to (1) establish measurement invariance in the Repetitive Behavior Scales for Early Childhood (RBS-EC), a parent-report questionnaire of RRBs, and (2) model developmental change in RRBs from 8 to 36 months. METHODS: We collected RBS-EC responses from parents of TD infants (n = 180) from 8 to 36 months (n = 606 responses, with participants contributing an average of 3-time points). We leverage a novel methodological approach to measurement invariance testing (Bauer, Psychological Models, 22(3), 507-526, 2017), moderated nonlinear factor analysis (MNLFA), to determine whether the RBS-EC was invariant across age and sex. We then generated adjusted factor score estimates for each subscale of the RBS-EC (repetitive motor, self-directed, and higher-order behaviors), and used linear mixed effects models to estimate between- and within-person changes in the RBS-EC over time. RESULTS: The RBS-EC showed some non-invariance as a function of age. We were able to adjust for this non-invariance in order to more accurately model changes in the RBS-EC over time. Repetitive motor and self-directed behaviors showed a linear decline from 8 to 36 months, while higher-order behaviors showed a quadratic trajectory such that they began to decline later in development at around 18 months. Using adjusted factor scores as opposed to unadjusted raw mean scores provided a number of benefits, including increased within-person variability and precision. CONCLUSIONS: The RBS-EC is sensitive enough to measure the presence of RRBs in a TD sample, as well as their decline with age. Using factor score estimates of each subscale adjusted for non-invariance allowed us to more precisely estimate change in these behaviors over time. En ligne : https://dx.doi.org/10.1186/s11689-020-09335-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

MEG-PLAN: a clinical and technical protocol for obtaining magnetoencephalography data in minimally verbal or nonverbal children who have autism spectrum disorder / Emily S. KUSCHNER in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : MEG-PLAN: a clinical and technical protocol for obtaining magnetoencephalography data in minimally verbal or nonverbal children who have autism spectrum disorder Type de document : texte imprimé Auteurs : Emily S. KUSCHNER, Auteur ; Mina KIM, Auteur ; Luke BLOY, Auteur ; Marissa DIPIERO, Auteur ; J. Christopher EDGAR, Auteur ; Timothy P.L. ROBERTS, Auteur Langues : Anglais (eng) Mots-clés : Aptitude  Autism Spectrum Disorder  Child  Female  Humans  Language  Magnetoencephalography  Male  Neuroimaging  Applied behavior analysis  Autism spectrum disorder  Compliance  Imaging methodology  Intellectual disability  Minimally verbal  Nonverbal  Imaging, AveXis, Spago Nanomedicine, and Acadia Pharmaceuticals. TR and JCE  disclose IP related to the use of MEG as a biomarker for ASD. No other authors  declare any financial disclosures. Index. décimale : PER Périodiques Résumé : BACKGROUND: Neuroimaging research on individuals who have autism spectrum disorder (ASD) has historically been limited primarily to those with age-appropriate cognitive and language performance. Children with limited abilities are frequently excluded from such neuroscience research given anticipated barriers like tolerating the loud sounds associated with magnetic resonance imaging and remaining still during data collection. To better understand brain function across the full range of ASD there is a need to (1) include individuals with limited cognitive and language performance in neuroimaging research (non-sedated, awake) and (2) improve data quality across the performance range. The purpose of this study was to develop, implement, and test the feasibility of a clinical/behavioral and technical protocol for obtaining magnetoencephalography (MEG) data. Participants were 38 children with ASD (8-12 years) meeting the study definition of minimally verbal/nonverbal language. MEG data were obtained during a passive pure-tone auditory task. RESULTS: Based on stakeholder feedback, the MEG Protocol for Low-language/cognitive Ability Neuroimaging (MEG-PLAN) was developed, integrating clinical/behavioral and technical components to be implemented by an interdisciplinary team (clinicians, behavior specialists, scientists, and technologists). Using MEG-PLAN, a 74% success rate was achieved for acquiring MEG data, with a 71% success rate for evaluable and analyzable data. Exploratory analyses suggested nonverbal IQ and adaptive skills were related to reaching the point of acquirable data. No differences in group characteristics were observed between those with acquirable versus evaluable/analyzable data. Examination of data quality (evaluable trial count) was acceptable. Moreover, results were reproducible, with high intraclass correlation coefficients for pure-tone auditory latency. CONCLUSIONS: Children who have ASD who are minimally verbal/nonverbal, and often have co-occurring cognitive impairments, can be effectively and comfortably supported to complete an electrophysiological exam that yields valid and reproducible results. MEG-PLAN is a protocol that can be disseminated and implemented across research teams and adapted across technologies and neurodevelopmental disorders to collect electrophysiology and neuroimaging data in previously understudied groups of individuals. En ligne : https://dx.doi.org/10.1186/s11689-020-09350-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] MEG-PLAN: a clinical and technical protocol for obtaining magnetoencephalography data in minimally verbal or nonverbal children who have autism spectrum disorder [texte imprimé] / Emily S. KUSCHNER, Auteur ; Mina KIM, Auteur ; Luke BLOY, Auteur ; Marissa DIPIERO, Auteur ; J. Christopher EDGAR, Auteur ; Timothy P.L. ROBERTS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Aptitude  Autism Spectrum Disorder  Child  Female  Humans  Language  Magnetoencephalography  Male  Neuroimaging  Applied behavior analysis  Autism spectrum disorder  Compliance  Imaging methodology  Intellectual disability  Minimally verbal  Nonverbal  Imaging, AveXis, Spago Nanomedicine, and Acadia Pharmaceuticals. TR and JCE  disclose IP related to the use of MEG as a biomarker for ASD. No other authors  declare any financial disclosures. Index. décimale : PER Périodiques Résumé : BACKGROUND: Neuroimaging research on individuals who have autism spectrum disorder (ASD) has historically been limited primarily to those with age-appropriate cognitive and language performance. Children with limited abilities are frequently excluded from such neuroscience research given anticipated barriers like tolerating the loud sounds associated with magnetic resonance imaging and remaining still during data collection. To better understand brain function across the full range of ASD there is a need to (1) include individuals with limited cognitive and language performance in neuroimaging research (non-sedated, awake) and (2) improve data quality across the performance range. The purpose of this study was to develop, implement, and test the feasibility of a clinical/behavioral and technical protocol for obtaining magnetoencephalography (MEG) data. Participants were 38 children with ASD (8-12 years) meeting the study definition of minimally verbal/nonverbal language. MEG data were obtained during a passive pure-tone auditory task. RESULTS: Based on stakeholder feedback, the MEG Protocol for Low-language/cognitive Ability Neuroimaging (MEG-PLAN) was developed, integrating clinical/behavioral and technical components to be implemented by an interdisciplinary team (clinicians, behavior specialists, scientists, and technologists). Using MEG-PLAN, a 74% success rate was achieved for acquiring MEG data, with a 71% success rate for evaluable and analyzable data. Exploratory analyses suggested nonverbal IQ and adaptive skills were related to reaching the point of acquirable data. No differences in group characteristics were observed between those with acquirable versus evaluable/analyzable data. Examination of data quality (evaluable trial count) was acceptable. Moreover, results were reproducible, with high intraclass correlation coefficients for pure-tone auditory latency. CONCLUSIONS: Children who have ASD who are minimally verbal/nonverbal, and often have co-occurring cognitive impairments, can be effectively and comfortably supported to complete an electrophysiological exam that yields valid and reproducible results. MEG-PLAN is a protocol that can be disseminated and implemented across research teams and adapted across technologies and neurodevelopmental disorders to collect electrophysiology and neuroimaging data in previously understudied groups of individuals. En ligne : https://dx.doi.org/10.1186/s11689-020-09350-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1 / Grazia ZAPPA in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1 Type de document : texte imprimé Auteurs : Grazia ZAPPA, Auteur ; Antonella LOMAURO, Auteur ; Giovanni BARANELLO, Auteur ; Emilia CAVALLO, Auteur ; Priscilla CORTI, Auteur ; Chiara MASTELLA, Auteur ; Maria Antonella COSTANTINO, Auteur Langues : Anglais (eng) Mots-clés : Child  Child, Preschool  Cognition  Comprehension  Female  Humans  Male  Muscular Atrophy, Spinal  Retrospective Studies  Speech  Children  Cognitive development  Language  SMA type 1  Spinal muscular atrophy Index. décimale : PER Périodiques Résumé : BACKGROUND: Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. METHODS: This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3-11 years in clinical stable condition with a coded way to communicate "yes" and "no". Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. RESULTS: SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. CONCLUSIONS: Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09355-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1 [texte imprimé] / Grazia ZAPPA, Auteur ; Antonella LOMAURO, Auteur ; Giovanni BARANELLO, Auteur ; Emilia CAVALLO, Auteur ; Priscilla CORTI, Auteur ; Chiara MASTELLA, Auteur ; Maria Antonella COSTANTINO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Child  Child, Preschool  Cognition  Comprehension  Female  Humans  Male  Muscular Atrophy, Spinal  Retrospective Studies  Speech  Children  Cognitive development  Language  SMA type 1  Spinal muscular atrophy Index. décimale : PER Périodiques Résumé : BACKGROUND: Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. METHODS: This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3-11 years in clinical stable condition with a coded way to communicate "yes" and "no". Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. RESULTS: SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. CONCLUSIONS: Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09355-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome / Conner J. BLACK in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome Type de document : texte imprimé Auteurs : Conner J. BLACK, Auteur ; Abigail L. HOGAN, Auteur ; Kayla D. SMITH, Auteur ; Jane E. ROBERTS, Auteur Langues : Anglais (eng) Mots-clés : Anxiety  Attention  Autism Spectrum Disorder  Behavior  Biomarkers  Female  Fragile X Syndrome  Humans  Infant  Male  Fragile X syndrome  Physiology  Respiratory sinus arrhythmia  Social anxiety  Social behavioral inhibition Index. décimale : PER Périodiques Résumé : BACKGROUND: Social anxiety is highly prevalent in neurotypical children and children with fragile X syndrome (FXS). FXS is a genetic syndrome that is characterized by intellectual disability and an increased risk for autism spectrum disorder. If social anxiety is left untreated, negative outcomes are highly prevalent later in life. However, early detection of social anxiety is challenging as symptoms are often subtle or absent very early in life. Given the prevalence and impairment associated with childhood social anxiety, efforts have accelerated to identify risk markers of anxiety. A cluster of early features of anxiety have been identified including elevated behavioral inhibition, attentional biases, and physiological dysregulation that index early emerging markers of social anxiety. Infants with FXS provide a unique opportunity to study the earlier predictors of social anxiety. The current study utilized a multi-method approach to investigate early markers of social anxiety in 12-month-old infants with FXS. METHOD: Participants included 32 infants with FXS and 41 low-risk controls, all approximately 12 months old. Parent-reported social behavioral inhibition was recorded from the Infant Behavior Questionnaire (IBQ-R). Direct observations of behavioral inhibition and attention were measured during a stranger approach task with respiratory sinus arrhythmia collected simultaneously. RESULTS: Parent-reported social behavioral inhibition was not significantly different between groups. In contrast, direct observations suggested that infants with FXS displayed elevated behavioral inhibition, increased attention towards the stranger, and a blunted respiratory sinus arrhythmia response. CONCLUSIONS: Findings suggest that infants with FXS show both behavioral and physiological markers of social anxiety at 12 months old using a biobehavioral approach with multiple sources of input. Results highlight the importance of a multi-method approach to understanding the complex early emergent characteristics of anxiety in infants with FXS. En ligne : https://dx.doi.org/10.1186/s11689-021-09356-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome [texte imprimé] / Conner J. BLACK, Auteur ; Abigail L. HOGAN, Auteur ; Kayla D. SMITH, Auteur ; Jane E. ROBERTS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Anxiety  Attention  Autism Spectrum Disorder  Behavior  Biomarkers  Female  Fragile X Syndrome  Humans  Infant  Male  Fragile X syndrome  Physiology  Respiratory sinus arrhythmia  Social anxiety  Social behavioral inhibition Index. décimale : PER Périodiques Résumé : BACKGROUND: Social anxiety is highly prevalent in neurotypical children and children with fragile X syndrome (FXS). FXS is a genetic syndrome that is characterized by intellectual disability and an increased risk for autism spectrum disorder. If social anxiety is left untreated, negative outcomes are highly prevalent later in life. However, early detection of social anxiety is challenging as symptoms are often subtle or absent very early in life. Given the prevalence and impairment associated with childhood social anxiety, efforts have accelerated to identify risk markers of anxiety. A cluster of early features of anxiety have been identified including elevated behavioral inhibition, attentional biases, and physiological dysregulation that index early emerging markers of social anxiety. Infants with FXS provide a unique opportunity to study the earlier predictors of social anxiety. The current study utilized a multi-method approach to investigate early markers of social anxiety in 12-month-old infants with FXS. METHOD: Participants included 32 infants with FXS and 41 low-risk controls, all approximately 12 months old. Parent-reported social behavioral inhibition was recorded from the Infant Behavior Questionnaire (IBQ-R). Direct observations of behavioral inhibition and attention were measured during a stranger approach task with respiratory sinus arrhythmia collected simultaneously. RESULTS: Parent-reported social behavioral inhibition was not significantly different between groups. In contrast, direct observations suggested that infants with FXS displayed elevated behavioral inhibition, increased attention towards the stranger, and a blunted respiratory sinus arrhythmia response. CONCLUSIONS: Findings suggest that infants with FXS show both behavioral and physiological markers of social anxiety at 12 months old using a biobehavioral approach with multiple sources of input. Results highlight the importance of a multi-method approach to understanding the complex early emergent characteristics of anxiety in infants with FXS. En ligne : https://dx.doi.org/10.1186/s11689-021-09356-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders / Rachel M. RAHN in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders Type de document : texte imprimé Auteurs : Rachel M. RAHN, Auteur ; Claire T. WEICHSELBAUM, Auteur ; David H. GUTMANN, Auteur ; Joseph D. DOUGHERTY, Auteur ; Susan E. MALONEY, Auteur Langues : Anglais (eng) Mots-clés : Animals  Disease Models, Animal  Gait  Humans  Mice  Neurodevelopmental Disorders/genetics  Neurofibromatosis Type 1  Williams Syndrome  neurodevelopmental disorders  precision medicine Index. décimale : PER Périodiques Résumé : BACKGROUND: Motor deficits such as abnormal gait are an underappreciated yet characteristic phenotype of many neurodevelopmental disorders (NDDs), including Williams Syndrome (WS) and Neurofibromatosis Type 1 (NF1). Compared to cognitive phenotypes, gait phenotypes are readily and comparably assessed in both humans and model organisms and are controlled by well-defined CNS circuits. Discovery of a common gait phenotype between NDDs might suggest shared cellular and molecular deficits and highlight simple outcome variables to potentially quantify longitudinal treatment efficacy in NDDs. METHODS: We characterized gait using the DigiGait assay in two different murine NDD models: the complete deletion (CD) mouse, which models hemizygous loss of the complete WS locus, and the Nf1(+/R681X) mouse, which models a NF1 patient-derived heterozygous germline NF1 mutation. Longitudinal data were collected across four developmental time points (postnatal days 21-30) and one early adulthood time point. RESULTS: Compared to wildtype littermate controls, both models displayed markedly similar spatial, temporal, and postural gait abnormalities during development. Developing CD mice also displayed significant decreases in variability metrics. Multiple gait abnormalities observed across development in the Nf1(+/R681X) mice persisted into early adulthood, including increased stride length and decreased stride frequency, while developmental abnormalities in the CD model largely resolved by adulthood. CONCLUSIONS: These findings suggest that the subcomponents of gait affected in NDDs show overlap between disorders as well as some disorder-specific features, which may change over the course of development. Our incorporation of spatial, temporal, and postural gait measures also provides a template for gait characterization in other NDD models and a platform to examining circuits or longitudinal therapeutics. En ligne : https://dx.doi.org/10.1186/s11689-021-09359-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders [texte imprimé] / Rachel M. RAHN, Auteur ; Claire T. WEICHSELBAUM, Auteur ; David H. GUTMANN, Auteur ; Joseph D. DOUGHERTY, Auteur ; Susan E. MALONEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Animals  Disease Models, Animal  Gait  Humans  Mice  Neurodevelopmental Disorders/genetics  Neurofibromatosis Type 1  Williams Syndrome  neurodevelopmental disorders  precision medicine Index. décimale : PER Périodiques Résumé : BACKGROUND: Motor deficits such as abnormal gait are an underappreciated yet characteristic phenotype of many neurodevelopmental disorders (NDDs), including Williams Syndrome (WS) and Neurofibromatosis Type 1 (NF1). Compared to cognitive phenotypes, gait phenotypes are readily and comparably assessed in both humans and model organisms and are controlled by well-defined CNS circuits. Discovery of a common gait phenotype between NDDs might suggest shared cellular and molecular deficits and highlight simple outcome variables to potentially quantify longitudinal treatment efficacy in NDDs. METHODS: We characterized gait using the DigiGait assay in two different murine NDD models: the complete deletion (CD) mouse, which models hemizygous loss of the complete WS locus, and the Nf1(+/R681X) mouse, which models a NF1 patient-derived heterozygous germline NF1 mutation. Longitudinal data were collected across four developmental time points (postnatal days 21-30) and one early adulthood time point. RESULTS: Compared to wildtype littermate controls, both models displayed markedly similar spatial, temporal, and postural gait abnormalities during development. Developing CD mice also displayed significant decreases in variability metrics. Multiple gait abnormalities observed across development in the Nf1(+/R681X) mice persisted into early adulthood, including increased stride length and decreased stride frequency, while developmental abnormalities in the CD model largely resolved by adulthood. CONCLUSIONS: These findings suggest that the subcomponents of gait affected in NDDs show overlap between disorders as well as some disorder-specific features, which may change over the course of development. Our incorporation of spatial, temporal, and postural gait measures also provides a template for gait characterization in other NDD models and a platform to examining circuits or longitudinal therapeutics. En ligne : https://dx.doi.org/10.1186/s11689-021-09359-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome / Kathleen E. WILSON in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome Type de document : texte imprimé Auteurs : Kathleen E. WILSON, Auteur ; Ari M. FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Allysa WARLING, Auteur ; Ethan WHITMAN, Auteur ; Liv CLASEN, Auteur ; Erin TORRES, Auteur ; Jonathan BLUMENTHAL, Auteur ; Armin RAZNAHAN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  Child, Preschool  DNA Copy Number Variations  Family  Humans  Male  Sex Chromosome Disorders  XYY Karyotype  Young Adult  Copy number variants  Modeling penetrance  Neurogenetic disorders  Precision psychiatry  Sex chromosome aneuploidies  Health (NIMH). The authors have no additional competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology. METHODS: We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits. RESULTS: Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R(2) ~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. CONCLUSIONS: We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." Date of registry: 01 October 1989. En ligne : https://dx.doi.org/10.1186/s11689-021-09360-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome [texte imprimé] / Kathleen E. WILSON, Auteur ; Ari M. FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Allysa WARLING, Auteur ; Ethan WHITMAN, Auteur ; Liv CLASEN, Auteur ; Erin TORRES, Auteur ; Jonathan BLUMENTHAL, Auteur ; Armin RAZNAHAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  Child, Preschool  DNA Copy Number Variations  Family  Humans  Male  Sex Chromosome Disorders  XYY Karyotype  Young Adult  Copy number variants  Modeling penetrance  Neurogenetic disorders  Precision psychiatry  Sex chromosome aneuploidies  Health (NIMH). The authors have no additional competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology. METHODS: We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits. RESULTS: Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R(2) ~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. CONCLUSIONS: We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." Date of registry: 01 October 1989. En ligne : https://dx.doi.org/10.1186/s11689-021-09360-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling / Angela John THURMAN in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling Type de document : texte imprimé Auteurs : Angela John THURMAN, Auteur ; Jamie O. EDGIN, Auteur ; Stephanie L SHERMAN, Auteur ; Audra STERLING, Auteur ; Andrea MCDUFFIE, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Debra HAMILTON, Auteur ; Leonard ABBEDUTO, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Child  Child, Preschool  Down Syndrome  Feasibility Studies  Humans  Language  Outcome Assessment, Health Care  Reproducibility of Results  Young Adult  Clinical trials  Down syndrome  Expressive language  Expressive language sampling  Outcome measures  Psychometrics  Treatment  Pharmaceuticals Ltd., Fulcrum Therapeutics, and Lumind to consult on and  implement outcome measures in clinical trials for FXS and DS. EBK has received  funding from Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan,  Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, Lumos, Ovid, AMO, Yamo,  Ionis, GeneTx, Acadia, Neurogene, Ultragenyx, and Vtesse/Sucampo/Mallinkcrodt  Pharmaceuticals to consult on trial design or development strategies and/or  conduct clinical trials in FXS or other genetic neurodevelopmental or  neurodegenerative disorders, and from Asuragen Inc. to develop testing standards  for FMR1 testing. AJT has received funding from Fulcrum Therapeutics to develop  outcome measures for FXS. The other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The purpose of this study was to evaluate expressive language sampling (ELS) as a procedure for generating spoken language outcome measures for treatment research in Down syndrome (DS). We addressed (a) feasibility, (b) practice effects across two short-term administrations, (c) test-retest reliability across two short-term administrations, (d) convergent and discriminant construct validity, and (e) considered comparisons across the conversation and narration contexts. METHOD: Participants were 107 individuals with DS between 6 and 23 years of age who presented with intellectual disability (IQ < 70). The utility of ELS procedures designed to collect samples of spoken language in conversation and narration were evaluated separately. Variables of talkativeness, vocabulary, syntax, utterance planning, and articulation quality, derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers), were considered. A 4-week interval was used to assess practice effects and test-retest reliability. Standardized direct assessments and informant report measures were collected to evaluate construct validity of the ELS variables. RESULTS: Low rates of noncompliance were observed; youth who were under 12 years of age, had phrase-level speech or less, and had a 4-year-old developmental level or less were at particular risk for experiencing difficulty completing the ELS procedures. Minimal practice effects and strong test-retest reliability across the 4-week test-retest interval was observed. The vocabulary, syntax, and speech intelligibility variables demonstrated strong convergent and discriminant validity. Although significant correlations were found between the variables derived from both the conversation and narration contexts, some differences were noted. CONCLUSION: The ELS procedures considered were feasible and yielded variables with adequate psychometric properties for most individuals with DS between 6 and 23 years old. That said, studies of outcome measures appropriate for individuals with DS with more limited spoken language skills are needed. Context differences were observed in ELS variables suggest that comprehensive evaluation of expressive language is likely best obtained when utilizing both contexts. En ligne : https://dx.doi.org/10.1186/s11689-021-09361-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling [texte imprimé] / Angela John THURMAN, Auteur ; Jamie O. EDGIN, Auteur ; Stephanie L SHERMAN, Auteur ; Audra STERLING, Auteur ; Andrea MCDUFFIE, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Debra HAMILTON, Auteur ; Leonard ABBEDUTO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Child  Child, Preschool  Down Syndrome  Feasibility Studies  Humans  Language  Outcome Assessment, Health Care  Reproducibility of Results  Young Adult  Clinical trials  Down syndrome  Expressive language  Expressive language sampling  Outcome measures  Psychometrics  Treatment  Pharmaceuticals Ltd., Fulcrum Therapeutics, and Lumind to consult on and  implement outcome measures in clinical trials for FXS and DS. EBK has received  funding from Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan,  Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, Lumos, Ovid, AMO, Yamo,  Ionis, GeneTx, Acadia, Neurogene, Ultragenyx, and Vtesse/Sucampo/Mallinkcrodt  Pharmaceuticals to consult on trial design or development strategies and/or  conduct clinical trials in FXS or other genetic neurodevelopmental or  neurodegenerative disorders, and from Asuragen Inc. to develop testing standards  for FMR1 testing. AJT has received funding from Fulcrum Therapeutics to develop  outcome measures for FXS. The other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The purpose of this study was to evaluate expressive language sampling (ELS) as a procedure for generating spoken language outcome measures for treatment research in Down syndrome (DS). We addressed (a) feasibility, (b) practice effects across two short-term administrations, (c) test-retest reliability across two short-term administrations, (d) convergent and discriminant construct validity, and (e) considered comparisons across the conversation and narration contexts. METHOD: Participants were 107 individuals with DS between 6 and 23 years of age who presented with intellectual disability (IQ < 70). The utility of ELS procedures designed to collect samples of spoken language in conversation and narration were evaluated separately. Variables of talkativeness, vocabulary, syntax, utterance planning, and articulation quality, derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers), were considered. A 4-week interval was used to assess practice effects and test-retest reliability. Standardized direct assessments and informant report measures were collected to evaluate construct validity of the ELS variables. RESULTS: Low rates of noncompliance were observed; youth who were under 12 years of age, had phrase-level speech or less, and had a 4-year-old developmental level or less were at particular risk for experiencing difficulty completing the ELS procedures. Minimal practice effects and strong test-retest reliability across the 4-week test-retest interval was observed. The vocabulary, syntax, and speech intelligibility variables demonstrated strong convergent and discriminant validity. Although significant correlations were found between the variables derived from both the conversation and narration contexts, some differences were noted. CONCLUSION: The ELS procedures considered were feasible and yielded variables with adequate psychometric properties for most individuals with DS between 6 and 23 years old. That said, studies of outcome measures appropriate for individuals with DS with more limited spoken language skills are needed. Context differences were observed in ELS variables suggest that comprehensive evaluation of expressive language is likely best obtained when utilizing both contexts. En ligne : https://dx.doi.org/10.1186/s11689-021-09361-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders / Rhideeta JALAL in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders Type de document : texte imprimé Auteurs : Rhideeta JALAL, Auteur ; Aarti NAIR, Auteur ; Amy LIN, Auteur ; Ariel ECKFELD, Auteur ; Leila KUSHAN, Auteur ; Jamie ZINBERG, Auteur ; Katherine H. KARLSGODT, Auteur ; Tyrone D. CANNON, Auteur ; Carrie E. BEARDEN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder  Child  Cognition  DiGeorge Syndrome  Female  Humans  Male  Psychotic Disorders  Social Cognition  Young Adult  22q11.2 deletion  Neurocognition  Psychosis  Social cognition Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. METHODS: We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74 ± 5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II) to assess intellectual functioning. RESULTS: The 22q11DS group exhibited significantly lower social cognitive abilities compared to CHR, FEP, and HC groups after controlling for intellectual functioning, but not in comparison to the ASD group. Significant positive correlations were found between social cognition, as measured by the TASIT and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. CONCLUSIONS: Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09363-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders [texte imprimé] / Rhideeta JALAL, Auteur ; Aarti NAIR, Auteur ; Amy LIN, Auteur ; Ariel ECKFELD, Auteur ; Leila KUSHAN, Auteur ; Jamie ZINBERG, Auteur ; Katherine H. KARLSGODT, Auteur ; Tyrone D. CANNON, Auteur ; Carrie E. BEARDEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Autism Spectrum Disorder  Child  Cognition  DiGeorge Syndrome  Female  Humans  Male  Psychotic Disorders  Social Cognition  Young Adult  22q11.2 deletion  Neurocognition  Psychosis  Social cognition Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. METHODS: We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74 ± 5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II) to assess intellectual functioning. RESULTS: The 22q11DS group exhibited significantly lower social cognitive abilities compared to CHR, FEP, and HC groups after controlling for intellectual functioning, but not in comparison to the ASD group. Significant positive correlations were found between social cognition, as measured by the TASIT and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. CONCLUSIONS: Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09363-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus / Tomas PETRASEK in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus Type de document : texte imprimé Auteurs : Tomas PETRASEK, Auteur ; Iveta VOJTECHOVA, Auteur ; Ondrej KLOVRZA, Auteur ; Klara TUCKOVA, Auteur ; Cestmir VEJMOLA, Auteur ; Jakub RAK, Auteur ; Anna SULAKOVA, Auteur ; Daniel KAPING, Auteur ; Nadine BERNHARDT, Auteur ; Petrus J. DE VRIES, Auteur ; Jakub OTAHAL, Auteur ; Robert WALTEREIT, Auteur Langues : Anglais (eng) Mots-clés : Animals  Autistic Disorder  Haploinsufficiency  Male  Rats  Status Epilepticus  TOR Serine-Threonine Kinases/genetics  Tuberous Sclerosis Complex 2 Protein/genetics  Autism spectrum disorders  Developmental status epilepticus  Everolimus  Tsc  Tuberous sclerosis complex  mTOR Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammalian target of rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive and social behavior deficits were reversed by mTOR inhibitors. However, phase II studies have not shown amelioration of ASD and cognitive deficits in individuals with TSC during mTOR inhibitor therapy. We asked here if developmental epilepsy, common in the majority of individuals with TSC but absent in most animal models, could explain the discrepancy. METHODS: At postnatal day P12, developmental status epilepticus (DSE) was induced in male Tsc2+/- (Eker) and wild-type rats, establishing four experimental groups including controls. In adult animals (n = 36), the behavior was assessed in the paradigms of social interaction test, elevated plus-maze, light-dark test, Y-maze, and novel object recognition. The testing was carried out before medication (T1), during a 2-week treatment with the mTOR inhibitor everolimus (T2) and after an 8-week washing-out (T3). Electroencephalographic (EEG) activity was recorded in a separate set of animals (n = 18). RESULTS: Both Tsc2+/- mutation and DSE caused social behavior deficits and epileptiform EEG abnormalities (T1). Everolimus led to a persistent improvement of the social deficit induced by Tsc2+/-, while deficits related to DSE did not respond to everolimus (T2, T3). CONCLUSIONS: These findings may contribute to an explanation why ASD symptoms in individuals with TSC, where comorbid early-onset epilepsy is common, were not reliably ameliorated by mTOR inhibitors in clinical studies. En ligne : https://dx.doi.org/10.1186/s11689-021-09357-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus [texte imprimé] / Tomas PETRASEK, Auteur ; Iveta VOJTECHOVA, Auteur ; Ondrej KLOVRZA, Auteur ; Klara TUCKOVA, Auteur ; Cestmir VEJMOLA, Auteur ; Jakub RAK, Auteur ; Anna SULAKOVA, Auteur ; Daniel KAPING, Auteur ; Nadine BERNHARDT, Auteur ; Petrus J. DE VRIES, Auteur ; Jakub OTAHAL, Auteur ; Robert WALTEREIT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Animals  Autistic Disorder  Haploinsufficiency  Male  Rats  Status Epilepticus  TOR Serine-Threonine Kinases/genetics  Tuberous Sclerosis Complex 2 Protein/genetics  Autism spectrum disorders  Developmental status epilepticus  Everolimus  Tsc  Tuberous sclerosis complex  mTOR Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammalian target of rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive and social behavior deficits were reversed by mTOR inhibitors. However, phase II studies have not shown amelioration of ASD and cognitive deficits in individuals with TSC during mTOR inhibitor therapy. We asked here if developmental epilepsy, common in the majority of individuals with TSC but absent in most animal models, could explain the discrepancy. METHODS: At postnatal day P12, developmental status epilepticus (DSE) was induced in male Tsc2+/- (Eker) and wild-type rats, establishing four experimental groups including controls. In adult animals (n = 36), the behavior was assessed in the paradigms of social interaction test, elevated plus-maze, light-dark test, Y-maze, and novel object recognition. The testing was carried out before medication (T1), during a 2-week treatment with the mTOR inhibitor everolimus (T2) and after an 8-week washing-out (T3). Electroencephalographic (EEG) activity was recorded in a separate set of animals (n = 18). RESULTS: Both Tsc2+/- mutation and DSE caused social behavior deficits and epileptiform EEG abnormalities (T1). Everolimus led to a persistent improvement of the social deficit induced by Tsc2+/-, while deficits related to DSE did not respond to everolimus (T2, T3). CONCLUSIONS: These findings may contribute to an explanation why ASD symptoms in individuals with TSC, where comorbid early-onset epilepsy is common, were not reliably ameliorated by mTOR inhibitors in clinical studies. En ligne : https://dx.doi.org/10.1186/s11689-021-09357-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis / Marie Moore CHANNELL in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis Type de document : texte imprimé Auteurs : Marie Moore CHANNELL, Auteur ; Laura J. MATTIE, Auteur ; Debra R. HAMILTON, Auteur ; George T. CAPONE, Auteur ; E. Mark MAHONE, Auteur ; Stephanie L. SHERMAN, Auteur ; Tracie C. ROSSER, Auteur ; Roger H. REEVES, Auteur ; Luther G. KALB, Auteur Langues : Anglais (eng) Mots-clés : Adaptation, Psychological  Adolescent  Adult  Autism Spectrum Disorder  Child  Cognition  Down Syndrome  Executive Function  Female  Humans  Male  Young Adult  Adaptive behavior  Autism symptomatology  Down syndrome  Intellectual disability  Latent profile analysis  Maladaptive behavior  Phenotypes Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. METHODS: Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. RESULTS: Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The "normative" class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The "cognitive" class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The "behavioral" class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the "normative" class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. CONCLUSIONS: These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed. En ligne : https://dx.doi.org/10.1186/s11689-021-09365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis [texte imprimé] / Marie Moore CHANNELL, Auteur ; Laura J. MATTIE, Auteur ; Debra R. HAMILTON, Auteur ; George T. CAPONE, Auteur ; E. Mark MAHONE, Auteur ; Stephanie L. SHERMAN, Auteur ; Tracie C. ROSSER, Auteur ; Roger H. REEVES, Auteur ; Luther G. KALB, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adaptation, Psychological  Adolescent  Adult  Autism Spectrum Disorder  Child  Cognition  Down Syndrome  Executive Function  Female  Humans  Male  Young Adult  Adaptive behavior  Autism symptomatology  Down syndrome  Intellectual disability  Latent profile analysis  Maladaptive behavior  Phenotypes Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. METHODS: Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. RESULTS: Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The "normative" class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The "cognitive" class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The "behavioral" class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the "normative" class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. CONCLUSIONS: These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed. En ligne : https://dx.doi.org/10.1186/s11689-021-09365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

White matter microstructure associations with episodic memory in adults with Down syndrome: a tract-based spatial statistics study / Austin BAZYDLO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : White matter microstructure associations with episodic memory in adults with Down syndrome: a tract-based spatial statistics study Type de document : texte imprimé Auteurs : Austin BAZYDLO, Auteur ; Matthew ZAMMIT, Auteur ; Minjie WU, Auteur ; Douglas DEAN, Auteur ; Sterling JOHNSON, Auteur ; Dana TUDORASCU, Auteur ; Ann COHEN, Auteur ; Karly CODY, Auteur ; Beau ANCES, Auteur ; Charles LAYMON, Auteur ; William KLUNK, Auteur ; Shahid ZAMAN, Auteur ; Benjamin HANDEN, Auteur ; Andrew ALEXANDER, Auteur ; Bradley CHRISTIAN, Auteur ; Sigan HARTLEY, Auteur Langues : Anglais (eng) Mots-clés : Adult  Alzheimer Disease  Diffusion Tensor Imaging  Down Syndrome  Female  Humans  Male  Memory, Episodic  Middle Aged  White Matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Nearly all persons with Down syndrome will show pathology of Alzheimer's disease in their 40s. There is a critical need for studies to identify early biomarkers of these various pathological changes of Alzheimer's disease in the Down syndrome population and understand the relationship of these biomarkers to cognitive symptoms in order to inform clinical trials. Although Alzheimer's disease is often considered a disease of gray matter, white matter degeneration has been documented during the preclinical stage of Alzheimer's disease. The current study examined the association between diffusion tensor imaging (DTI) measures of white matter microstructure and episodic memory performance in 52 adults with Down syndrome. METHODS: Seventy (N = 70) participants (M = 40.13, SD = 7.77 years) received baseline scans as part of the Neurodegeneration in Aging Down Syndrome (NiAD) study at two imaging facilities (36 at the University of Wisconsin-Madison [UW-Madison] and 34 at the University of Pittsburgh Medical Center [UPMC]). All participants had genetically confirmed trisomy 21. Fifty-two (N = 52) participants remained after QC. The DTI measures, fractional anisotropy (FA) and mean diffusivity (MD), were calculated for each participant. A combined measure of episodic memory was generated by summing the z-scores of (1) Free and Cued Recall test and (2) Rivermead Behavioural Memory Test for Children Picture Recognition. The DTI data were projected onto a population-derived FA skeleton and tract-based spatial statistics analysis was conducted using the FSL tool PALM to calculate Pearson's r values between FA and MD with episodic memory. RESULTS: A positive correlation of episodic memory with FA and a negative correlation of episodic memory and MD in the major association white matter tracts were observed. Results were significant (p < 0.05) after correction for chronological age, imaging site, and premorbid cognitive ability. CONCLUSION: These findings suggest that white matter degeneration may be implicated in early episodic memory declines prior to the onset of dementia in adults with Down syndrome. Further, our findings suggest a coupling of episodic memory and white matter microstructure independent of chronological age. En ligne : https://dx.doi.org/10.1186/s11689-021-09366-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] White matter microstructure associations with episodic memory in adults with Down syndrome: a tract-based spatial statistics study [texte imprimé] / Austin BAZYDLO, Auteur ; Matthew ZAMMIT, Auteur ; Minjie WU, Auteur ; Douglas DEAN, Auteur ; Sterling JOHNSON, Auteur ; Dana TUDORASCU, Auteur ; Ann COHEN, Auteur ; Karly CODY, Auteur ; Beau ANCES, Auteur ; Charles LAYMON, Auteur ; William KLUNK, Auteur ; Shahid ZAMAN, Auteur ; Benjamin HANDEN, Auteur ; Andrew ALEXANDER, Auteur ; Bradley CHRISTIAN, Auteur ; Sigan HARTLEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adult  Alzheimer Disease  Diffusion Tensor Imaging  Down Syndrome  Female  Humans  Male  Memory, Episodic  Middle Aged  White Matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Nearly all persons with Down syndrome will show pathology of Alzheimer's disease in their 40s. There is a critical need for studies to identify early biomarkers of these various pathological changes of Alzheimer's disease in the Down syndrome population and understand the relationship of these biomarkers to cognitive symptoms in order to inform clinical trials. Although Alzheimer's disease is often considered a disease of gray matter, white matter degeneration has been documented during the preclinical stage of Alzheimer's disease. The current study examined the association between diffusion tensor imaging (DTI) measures of white matter microstructure and episodic memory performance in 52 adults with Down syndrome. METHODS: Seventy (N = 70) participants (M = 40.13, SD = 7.77 years) received baseline scans as part of the Neurodegeneration in Aging Down Syndrome (NiAD) study at two imaging facilities (36 at the University of Wisconsin-Madison [UW-Madison] and 34 at the University of Pittsburgh Medical Center [UPMC]). All participants had genetically confirmed trisomy 21. Fifty-two (N = 52) participants remained after QC. The DTI measures, fractional anisotropy (FA) and mean diffusivity (MD), were calculated for each participant. A combined measure of episodic memory was generated by summing the z-scores of (1) Free and Cued Recall test and (2) Rivermead Behavioural Memory Test for Children Picture Recognition. The DTI data were projected onto a population-derived FA skeleton and tract-based spatial statistics analysis was conducted using the FSL tool PALM to calculate Pearson's r values between FA and MD with episodic memory. RESULTS: A positive correlation of episodic memory with FA and a negative correlation of episodic memory and MD in the major association white matter tracts were observed. Results were significant (p < 0.05) after correction for chronological age, imaging site, and premorbid cognitive ability. CONCLUSION: These findings suggest that white matter degeneration may be implicated in early episodic memory declines prior to the onset of dementia in adults with Down syndrome. Further, our findings suggest a coupling of episodic memory and white matter microstructure independent of chronological age. En ligne : https://dx.doi.org/10.1186/s11689-021-09366-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring / Reymundo LOZANO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring Type de document : texte imprimé Auteurs : Reymundo LOZANO, Auteur ; Catherine GBEKIE, Auteur ; Paige M. SIPER, Auteur ; Shubhika SRIVASTAVA, Auteur ; Jeffrey M. SALAND, Auteur ; Swathi SETHURAM, Auteur ; Lara TANG, Auteur ; Elodie DRAPEAU, Auteur ; Yitzchak FRANK, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Forkhead Transcription Factors  Humans  In Situ Hybridization, Fluorescence  Intellectual Disability  Repressor Proteins  Asd  Autism spectrum disorder  Foxp1  FOXP1 syndrome  Forkhead box protein 1  Acadia, Ritrova, and Alkermes. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome. En ligne : https://dx.doi.org/10.1186/s11689-021-09358-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring [texte imprimé] / Reymundo LOZANO, Auteur ; Catherine GBEKIE, Auteur ; Paige M. SIPER, Auteur ; Shubhika SRIVASTAVA, Auteur ; Jeffrey M. SALAND, Auteur ; Swathi SETHURAM, Auteur ; Lara TANG, Auteur ; Elodie DRAPEAU, Auteur ; Yitzchak FRANK, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder  Forkhead Transcription Factors  Humans  In Situ Hybridization, Fluorescence  Intellectual Disability  Repressor Proteins  Asd  Autism spectrum disorder  Foxp1  FOXP1 syndrome  Forkhead box protein 1  Acadia, Ritrova, and Alkermes. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome. En ligne : https://dx.doi.org/10.1186/s11689-021-09358-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study / Tina Nørgaard MUNCH in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study Type de document : texte imprimé Auteurs : Tina Nørgaard MUNCH, Auteur ; Paula Louise HEDLEY, Auteur ; Christian Munch HAGEN, Auteur ; Marie BÆKVAD-HANSEN, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Jakob GROVE, Auteur ; Merete NORDENTOFT, Auteur ; Anders Dupont BØRGLUM, Auteur ; Preben Bo MORTENSEN, Auteur ; Thomas Mears WERGE, Auteur ; Mads MELBYE, Auteur ; David Michael HOUGAARD, Auteur ; Michael CHRISTIANSEN, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Child  Cohort Studies  Denmark  Depressive Disorder, Major  Female  Humans  Hydrocephalus  Male  Autism spectrum disorder  Cohort, Congenital  Epidemiology  Hydrocephalus Index. décimale : PER Périodiques Résumé : BACKGROUND: The association between autism spectrum disorder and hydrocephalus is not well understood, despite demonstrated links between autism spectrum disorder and cerebrospinal fluid abnormalities. Based on the hypothesis that autism spectrum disorder and hydrocephalus may, at least in some cases, be two manifestations of a shared congenital brain pathology, we investigated the potential association between autism spectrum disorder and hydrocephalus in a large Danish population-based cohort. METHODS: Patients and controls were obtained from the Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH2012 case-cohort, which includes all patients with selected psychiatric disorders born in Denmark 1981-2005 along with randomly selected population controls (end of follow-up, December 31, 2016). The associations between individual psychiatric disorders and hydrocephalus were estimated using binary logistic regression with adjustment for age and sex. RESULTS: The cohort consisted of 86,571 individuals, of which 14,654 were diagnosed with autism spectrum disorder, 28,606 were population controls, and the remaining were diagnosed with other psychiatric disorders. We identified 201 hydrocephalus cases; 68 among autism spectrum disorder patients and 40 among controls (OR 3.77, 95% CI 2.48-5.78), which corresponds to an absolute risk of 0.46 % (i.e. approximately one in 217 children with autism spectrum disorder had co-occurring hydrocephalus). The autism spectrum disorder-hydrocephalus association was significant over the entire subgroup spectrum of autism spectrum disorder. CONCLUSIONS: Given the considerable risk of hydrocephalus among patients with autism spectrum disorder, we suggest that patients with autism spectrum disorder should be evaluated for co-occurring hydrocephalus on a routine basis as timely neurosurgical intervention is important. Likewise, attention must be paid to traits of autism spectrum disorder in children with hydrocephalus. The results of this study call for future investigations on a potential shared aetiology between hydrocephalus and autism spectrum disorder, including the role abnormal CSF dynamics in the pathogenesis of autism spectrum disorder. En ligne : https://dx.doi.org/10.1186/s11689-021-09367-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study [texte imprimé] / Tina Nørgaard MUNCH, Auteur ; Paula Louise HEDLEY, Auteur ; Christian Munch HAGEN, Auteur ; Marie BÆKVAD-HANSEN, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Jakob GROVE, Auteur ; Merete NORDENTOFT, Auteur ; Anders Dupont BØRGLUM, Auteur ; Preben Bo MORTENSEN, Auteur ; Thomas Mears WERGE, Auteur ; Mads MELBYE, Auteur ; David Michael HOUGAARD, Auteur ; Michael CHRISTIANSEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder  Child  Cohort Studies  Denmark  Depressive Disorder, Major  Female  Humans  Hydrocephalus  Male  Autism spectrum disorder  Cohort, Congenital  Epidemiology  Hydrocephalus Index. décimale : PER Périodiques Résumé : BACKGROUND: The association between autism spectrum disorder and hydrocephalus is not well understood, despite demonstrated links between autism spectrum disorder and cerebrospinal fluid abnormalities. Based on the hypothesis that autism spectrum disorder and hydrocephalus may, at least in some cases, be two manifestations of a shared congenital brain pathology, we investigated the potential association between autism spectrum disorder and hydrocephalus in a large Danish population-based cohort. METHODS: Patients and controls were obtained from the Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH2012 case-cohort, which includes all patients with selected psychiatric disorders born in Denmark 1981-2005 along with randomly selected population controls (end of follow-up, December 31, 2016). The associations between individual psychiatric disorders and hydrocephalus were estimated using binary logistic regression with adjustment for age and sex. RESULTS: The cohort consisted of 86,571 individuals, of which 14,654 were diagnosed with autism spectrum disorder, 28,606 were population controls, and the remaining were diagnosed with other psychiatric disorders. We identified 201 hydrocephalus cases; 68 among autism spectrum disorder patients and 40 among controls (OR 3.77, 95% CI 2.48-5.78), which corresponds to an absolute risk of 0.46 % (i.e. approximately one in 217 children with autism spectrum disorder had co-occurring hydrocephalus). The autism spectrum disorder-hydrocephalus association was significant over the entire subgroup spectrum of autism spectrum disorder. CONCLUSIONS: Given the considerable risk of hydrocephalus among patients with autism spectrum disorder, we suggest that patients with autism spectrum disorder should be evaluated for co-occurring hydrocephalus on a routine basis as timely neurosurgical intervention is important. Likewise, attention must be paid to traits of autism spectrum disorder in children with hydrocephalus. The results of this study call for future investigations on a potential shared aetiology between hydrocephalus and autism spectrum disorder, including the role abnormal CSF dynamics in the pathogenesis of autism spectrum disorder. En ligne : https://dx.doi.org/10.1186/s11689-021-09367-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

A multi-study examination of the role of repeated spaced retrieval in the word learning of children with developmental language disorder / Laurence B. LEONARD in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : A multi-study examination of the role of repeated spaced retrieval in the word learning of children with developmental language disorder Type de document : texte imprimé Auteurs : Laurence B. LEONARD, Auteur ; Sharon L. CHRIST, Auteur ; Patricia DEEVY, Auteur ; Jeffrey D. KARPICKE, Auteur ; Christine WEBER, Auteur ; Eileen HAEBIG, Auteur ; Justin B. KUESER, Auteur ; Sofía SOUTO, Auteur ; Windi KROK, Auteur Langues : Anglais (eng) Mots-clés : Child  Child, Preschool  Humans  Language Development  Language Development Disorders  Mental Recall  Verbal Learning  Vocabulary  Developmental language disorder  Retrieval  Specific language impairment  Word learning Index. décimale : PER Périodiques Résumé : BACKGROUND: Many children with developmental language disorders (DLD) have well-documented weaknesses in vocabulary. In recent years, investigators have explored the nature of these weaknesses through the use of novel word learning paradigms. These studies have begun to uncover specific areas of difficulty and have provided hints about possible intervention strategies that might help these children learn words more accurately and efficiently. Among the studies of this type are those that incorporate repeated spaced retrieval activities in the learning procedures. METHODS: In this study, we examined the data from four of these studies that employed the same types of participants (4- and 5-year-old children with DLD and same-age children with typical language development), research design, and outcome measures. The studies differed primarily in the type of learning condition that was being compared to a spaced retrieval condition. A mixed-effects modeling framework was used, enabling the data from the four studies and different outcome measures to be aggregated. RESULTS: Across the studies, more words in the repeated spaced retrieval condition were recalled than those in the comparison conditions. This was true regardless of outcome measure. Children with typical language development recalled more words than the children with DLD. Both groups benefited from spaced retrieval, though effects were larger for the group with DLD. Children recalled words as accurately 1 week after learning as they did at the 5-min mark; the two groups were essentially identical in this respect. CONCLUSIONS: Overall, the findings support the continued refinement of these types of repeated spaced retrieval procedures, as they may have potential to serve as effective approaches to intervention. En ligne : https://dx.doi.org/10.1186/s11689-021-09368-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] A multi-study examination of the role of repeated spaced retrieval in the word learning of children with developmental language disorder [texte imprimé] / Laurence B. LEONARD, Auteur ; Sharon L. CHRIST, Auteur ; Patricia DEEVY, Auteur ; Jeffrey D. KARPICKE, Auteur ; Christine WEBER, Auteur ; Eileen HAEBIG, Auteur ; Justin B. KUESER, Auteur ; Sofía SOUTO, Auteur ; Windi KROK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Child  Child, Preschool  Humans  Language Development  Language Development Disorders  Mental Recall  Verbal Learning  Vocabulary  Developmental language disorder  Retrieval  Specific language impairment  Word learning Index. décimale : PER Périodiques Résumé : BACKGROUND: Many children with developmental language disorders (DLD) have well-documented weaknesses in vocabulary. In recent years, investigators have explored the nature of these weaknesses through the use of novel word learning paradigms. These studies have begun to uncover specific areas of difficulty and have provided hints about possible intervention strategies that might help these children learn words more accurately and efficiently. Among the studies of this type are those that incorporate repeated spaced retrieval activities in the learning procedures. METHODS: In this study, we examined the data from four of these studies that employed the same types of participants (4- and 5-year-old children with DLD and same-age children with typical language development), research design, and outcome measures. The studies differed primarily in the type of learning condition that was being compared to a spaced retrieval condition. A mixed-effects modeling framework was used, enabling the data from the four studies and different outcome measures to be aggregated. RESULTS: Across the studies, more words in the repeated spaced retrieval condition were recalled than those in the comparison conditions. This was true regardless of outcome measure. Children with typical language development recalled more words than the children with DLD. Both groups benefited from spaced retrieval, though effects were larger for the group with DLD. Children recalled words as accurately 1 week after learning as they did at the 5-min mark; the two groups were essentially identical in this respect. CONCLUSIONS: Overall, the findings support the continued refinement of these types of repeated spaced retrieval procedures, as they may have potential to serve as effective approaches to intervention. En ligne : https://dx.doi.org/10.1186/s11689-021-09368-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Self-reported psychological disorders among the mothers of children with autism spectrum disorder, type 1 diabetes mellitus, and typically developed children / Ahmed Malalla AL-ANSARI in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Self-reported psychological disorders among the mothers of children with autism spectrum disorder, type 1 diabetes mellitus, and typically developed children Type de document : texte imprimé Auteurs : Ahmed Malalla AL-ANSARI, Auteur ; Mohamed Ismael JANAHI, Auteur ; Abdulrahman J. ALTOURAH, Auteur ; Haitham Ali JAHRAMI, Auteur ; Mansour Bin RAJAB, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Blood Glucose  Blood Glucose Self-Monitoring  Child  Diabetes Mellitus, Type 1  Female  Humans  Middle Aged  Mothers  Self Report  Young Adult  Asd  Bahrain  Dass-21  Diabetes  Pss-14 Index. décimale : PER Périodiques Résumé : BACKGROUND: To assess the prevalence of symptoms of depression, anxiety, and stress among mothers of children with autism spectrum disorders (ASD), type 1 diabetes (DM), and typical development (TD), in a geographical area where such data are lacking METHOD: A descriptive study with the three groups of parents of children with and without a condition was conducted (ASD n=126, group 1; DM n=43, group 2; and TD n= 116, comparative group). Measures of depression, anxiety, and stress were collected to examine the prevalence of factors, difference between groups, and their association with demographic characteristics. RESULTS: On the DASS-21, both groups 1 and 2 had higher mean scores for depression (37.86), anxiety (4.58), and stress (29.81) than the control group (P=0.015). On the PSS-14, the mean score was higher in group 2 (28.63) than in group 1 (27.61) and the comparison group (25.87) (P=0.004). On the DASS 21, group 1 scored higher in the depression domain (P=0.046), whereas group 2 scored higher in the anxiety domain (P=0.034) and stress domain (P=0.009) than the TD group. CONCLUSION: Mothers of children with ASD should be assessed for the presence of depression following diagnosis. Mothers of children with type 1 diabetes require careful monitoring for the effects of anxiety and stress on their mental health and therefore their ability to cope with diabetes management plans. TRIAL REGISTRATION: Not applicable. En ligne : https://dx.doi.org/10.1186/s11689-021-09369-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Self-reported psychological disorders among the mothers of children with autism spectrum disorder, type 1 diabetes mellitus, and typically developed children [texte imprimé] / Ahmed Malalla AL-ANSARI, Auteur ; Mohamed Ismael JANAHI, Auteur ; Abdulrahman J. ALTOURAH, Auteur ; Haitham Ali JAHRAMI, Auteur ; Mansour Bin RAJAB, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Blood Glucose  Blood Glucose Self-Monitoring  Child  Diabetes Mellitus, Type 1  Female  Humans  Middle Aged  Mothers  Self Report  Young Adult  Asd  Bahrain  Dass-21  Diabetes  Pss-14 Index. décimale : PER Périodiques Résumé : BACKGROUND: To assess the prevalence of symptoms of depression, anxiety, and stress among mothers of children with autism spectrum disorders (ASD), type 1 diabetes (DM), and typical development (TD), in a geographical area where such data are lacking METHOD: A descriptive study with the three groups of parents of children with and without a condition was conducted (ASD n=126, group 1; DM n=43, group 2; and TD n= 116, comparative group). Measures of depression, anxiety, and stress were collected to examine the prevalence of factors, difference between groups, and their association with demographic characteristics. RESULTS: On the DASS-21, both groups 1 and 2 had higher mean scores for depression (37.86), anxiety (4.58), and stress (29.81) than the control group (P=0.015). On the PSS-14, the mean score was higher in group 2 (28.63) than in group 1 (27.61) and the comparison group (25.87) (P=0.004). On the DASS 21, group 1 scored higher in the depression domain (P=0.046), whereas group 2 scored higher in the anxiety domain (P=0.034) and stress domain (P=0.009) than the TD group. CONCLUSION: Mothers of children with ASD should be assessed for the presence of depression following diagnosis. Mothers of children with type 1 diabetes require careful monitoring for the effects of anxiety and stress on their mental health and therefore their ability to cope with diabetes management plans. TRIAL REGISTRATION: Not applicable. En ligne : https://dx.doi.org/10.1186/s11689-021-09369-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I / Jannath BEGUM-ALI in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I Type de document : texte imprimé Auteurs : Jannath BEGUM-ALI, Auteur ; Anna KOLESNIK-TAYLOR, Auteur ; Isabel QUIROZ, Auteur ; Luke MASON, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Mark H. JOHNSON, Auteur ; Emily J.H. JONES, Auteur ; STAARS AND EDEN TEAMS, Auteur Langues : Anglais (eng) Mots-clés : Auditory Perception  Autism Spectrum Disorder  Humans  Infant  Longitudinal Studies  Neurofibromatosis 1  Prospective Studies  Auditory processing  Autism spectrum disorder  Change detection  Eeg  Habituation  Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms. Positing a causal role for sensory processing differences requires observing atypical sensory reactivity prior to the emergence of other symptoms, which can be achieved through prospective studies. METHODS: In this longitudinal study, we examined auditory repetition suppression and change detection at 5 and 10 months in infants with and without Neurofibromatosis Type 1 (NF1), a condition associated with higher likelihood of developing ASD. RESULTS: In typically developing infants, suppression to vowel repetition and enhanced responses to vowel/pitch change decreased with age over posterior regions, becoming more frontally specific; age-related change was diminished in the NF1 group. Whilst both groups detected changes in vowel and pitch, the NF1 group were largely slower to show a differentiated neural response. Auditory responses did not relate to later language, but were related to later ASD traits. CONCLUSIONS: These findings represent the first demonstration of atypical brain responses to sounds in infants with NF1 and suggest they may relate to the likelihood of later ASD. En ligne : https://dx.doi.org/10.1186/s11689-021-09364-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I [texte imprimé] / Jannath BEGUM-ALI, Auteur ; Anna KOLESNIK-TAYLOR, Auteur ; Isabel QUIROZ, Auteur ; Luke MASON, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Mark H. JOHNSON, Auteur ; Emily J.H. JONES, Auteur ; STAARS AND EDEN TEAMS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Auditory Perception  Autism Spectrum Disorder  Humans  Infant  Longitudinal Studies  Neurofibromatosis 1  Prospective Studies  Auditory processing  Autism spectrum disorder  Change detection  Eeg  Habituation  Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms. Positing a causal role for sensory processing differences requires observing atypical sensory reactivity prior to the emergence of other symptoms, which can be achieved through prospective studies. METHODS: In this longitudinal study, we examined auditory repetition suppression and change detection at 5 and 10 months in infants with and without Neurofibromatosis Type 1 (NF1), a condition associated with higher likelihood of developing ASD. RESULTS: In typically developing infants, suppression to vowel repetition and enhanced responses to vowel/pitch change decreased with age over posterior regions, becoming more frontally specific; age-related change was diminished in the NF1 group. Whilst both groups detected changes in vowel and pitch, the NF1 group were largely slower to show a differentiated neural response. Auditory responses did not relate to later language, but were related to later ASD traits. CONCLUSIONS: These findings represent the first demonstration of atypical brain responses to sounds in infants with NF1 and suggest they may relate to the likelihood of later ASD. En ligne : https://dx.doi.org/10.1186/s11689-021-09364-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome / Tyler M. MOORE in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome Type de document : texte imprimé Auteurs : Tyler M. MOORE, Auteur ; Deby SALZER, Auteur ; Carrie E. BEARDEN, Auteur ; Monica E. CALKINS, Auteur ; Wendy R. KATES, Auteur ; Leila KUSHAN, Auteur ; Robert Sean GALLAGHER, Auteur ; Dafna Sofrin FRUMER, Auteur ; Ronnie WEINBERGER, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Raquel E. GUR, Auteur ; Doron GOTHELF, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  DiGeorge Syndrome  Female  Humans  Male  Marfan Syndrome  Psychotic Disorders  Reproducibility of Results  Young Adult  DiGeorge  Inter-rater reliability  Psychosis risk syndrome  Scale of Prodromal Symptoms (SOPS)  Structured Interview for Prodromal Syndromes (SIPS)  Subthreshold psychotic symptoms  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Pathways leading to psychosis in 22q11.2 deletion syndrome (22q11.2DS) have been the focus of intensive research during the last two decades. One of the common clinical risk factors for the evolution of psychosis in 22q11.2DS is the presence of positive and negative subthreshold psychotic symptoms. The gold standard for measuring subthreshold symptoms is the Structured Interview for Prodromal Syndromes (SIPS) and its accompanying Scale of Prodromal Symptoms (SOPS) ratings. Although the scale has been used by many centers studying 22q11.2DS, the inter-site reliability of the scale in this population has never been established. METHODS: In the present study, experienced clinical assessors from three large international centers studying 22q11.2DS independently rated video recordings of 18 adolescents and young adults with 22q11.2DS. RESULTS: The intraclass correlations coefficients (ICCs) among three raters for the SOPS total scores, as well as for the positive, negative, and disorganization subscale scores, were good-to-excellent (ICCs range 0.73-0.93). The raters were also able to reliably determine the subjects' subthreshold syndrome status (ICC = 0.71). The reliability of individual items was good-to-excellent for all items, ranging from 0.61 for motor disturbances [G3] to 0.95 for bizarre thinking. CONCLUSIONS: Our results show that trained clinicians can reliably screen for subthreshold psychotic symptoms in individuals with 22q11.2DS. To increase assessment reliability, we suggest specific clarifications and simplifications to the standard SIPS interview for future studies. En ligne : https://dx.doi.org/10.1186/s11689-021-09372-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome [texte imprimé] / Tyler M. MOORE, Auteur ; Deby SALZER, Auteur ; Carrie E. BEARDEN, Auteur ; Monica E. CALKINS, Auteur ; Wendy R. KATES, Auteur ; Leila KUSHAN, Auteur ; Robert Sean GALLAGHER, Auteur ; Dafna Sofrin FRUMER, Auteur ; Ronnie WEINBERGER, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Raquel E. GUR, Auteur ; Doron GOTHELF, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  DiGeorge Syndrome  Female  Humans  Male  Marfan Syndrome  Psychotic Disorders  Reproducibility of Results  Young Adult  DiGeorge  Inter-rater reliability  Psychosis risk syndrome  Scale of Prodromal Symptoms (SOPS)  Structured Interview for Prodromal Syndromes (SIPS)  Subthreshold psychotic symptoms  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Pathways leading to psychosis in 22q11.2 deletion syndrome (22q11.2DS) have been the focus of intensive research during the last two decades. One of the common clinical risk factors for the evolution of psychosis in 22q11.2DS is the presence of positive and negative subthreshold psychotic symptoms. The gold standard for measuring subthreshold symptoms is the Structured Interview for Prodromal Syndromes (SIPS) and its accompanying Scale of Prodromal Symptoms (SOPS) ratings. Although the scale has been used by many centers studying 22q11.2DS, the inter-site reliability of the scale in this population has never been established. METHODS: In the present study, experienced clinical assessors from three large international centers studying 22q11.2DS independently rated video recordings of 18 adolescents and young adults with 22q11.2DS. RESULTS: The intraclass correlations coefficients (ICCs) among three raters for the SOPS total scores, as well as for the positive, negative, and disorganization subscale scores, were good-to-excellent (ICCs range 0.73-0.93). The raters were also able to reliably determine the subjects' subthreshold syndrome status (ICC = 0.71). The reliability of individual items was good-to-excellent for all items, ranging from 0.61 for motor disturbances [G3] to 0.95 for bizarre thinking. CONCLUSIONS: Our results show that trained clinicians can reliably screen for subthreshold psychotic symptoms in individuals with 22q11.2DS. To increase assessment reliability, we suggest specific clarifications and simplifications to the standard SIPS interview for future studies. En ligne : https://dx.doi.org/10.1186/s11689-021-09372-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders / Anne B. ARNETT in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders Type de document : texte imprimé Auteurs : Anne B. ARNETT, Auteur ; Tianyun WANG, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Genomics  Humans  Intellectual Disability/genetics  Molecular Biology  Neurodevelopmental Disorders/genetics  Excitatory/inhibitory  Genetics-first  Molecular genetics  Neurobiology  Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approach to research on NDDs has led to the identification of hundreds of genes conferring risk for ASD, ID, and related symptoms. MAIN BODY: Although relatively few individuals with NDDs share likely gene-disruptive (LGD) mutations in the same gene, characterization of overlapping functions, protein networks, and temporospatial expression patterns among these genes has led to increased understanding of the neurobiological etiology of NDDs. This shift in focus away from single genes and toward broader gene-brain-behavior pathways has been accelerated by the development of publicly available transcriptomic databases, cell type-specific research methods, and sequencing of non-coding genomic regions. CONCLUSIONS: The genetics-first approach to research on NDDs has advanced the identification of critical protein function pathways and temporospatial expression patterns, expanding the impact of this research beyond individuals with single-gene mutations to the broader population of patients with NDDs. En ligne : https://dx.doi.org/10.1186/s11689-021-09371-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders [texte imprimé] / Anne B. ARNETT, Auteur ; Tianyun WANG, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/genetics  Genomics  Humans  Intellectual Disability/genetics  Molecular Biology  Neurodevelopmental Disorders/genetics  Excitatory/inhibitory  Genetics-first  Molecular genetics  Neurobiology  Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approach to research on NDDs has led to the identification of hundreds of genes conferring risk for ASD, ID, and related symptoms. MAIN BODY: Although relatively few individuals with NDDs share likely gene-disruptive (LGD) mutations in the same gene, characterization of overlapping functions, protein networks, and temporospatial expression patterns among these genes has led to increased understanding of the neurobiological etiology of NDDs. This shift in focus away from single genes and toward broader gene-brain-behavior pathways has been accelerated by the development of publicly available transcriptomic databases, cell type-specific research methods, and sequencing of non-coding genomic regions. CONCLUSIONS: The genetics-first approach to research on NDDs has advanced the identification of critical protein function pathways and temporospatial expression patterns, expanding the impact of this research beyond individuals with single-gene mutations to the broader population of patients with NDDs. En ligne : https://dx.doi.org/10.1186/s11689-021-09371-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium / Lauren SCHWARTZ in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium Type de document : texte imprimé Auteurs : Lauren SCHWARTZ, Auteur ; Assumpta CAIXÀS, Auteur ; Anastasia DIMITROPOULOS, Auteur ; Elisabeth DYKENS, Auteur ; Jessica DUIS, Auteur ; Stewart EINFELD, Auteur ; Louise GALLAGHER, Auteur ; Anthony HOLLAND, Auteur ; Lauren RICE, Auteur ; Elizabeth ROOF, Auteur ; Parisa SALEHI, Auteur ; Theresa STRONG, Auteur ; Bonnie TAYLOR, Auteur ; Kate WOODCOCK, Auteur Langues : Anglais (eng) Mots-clés : Anxiety  Consensus  Humans  Prader-Willi Syndrome/therapy  Quality of Life  Behavior  Hyperphagia  Obsessive–compulsive  Patient vignettes  Prader-Willi syndrome  Rigidity  Social cognition  Temper outbursts  Willi Research AC–no competing interests AD–no competing interests ED–no  competing interests JD–no competing interests SE–no competing interests AH–no  competing interests LR–no competing interests ER–no competing interest PS is  involved in clinical research funded by Soleno Therapeutics, Inc. & Millendo  Therapeutics, Inc. TS is an employee of Foundation for Prader Willi Research  (FPWR) and Director of Research Programs at FPWR BT–no competing interests KW–no  competing interests Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org ) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC "Behavior Outcomes Working Group" sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive-compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS. En ligne : https://dx.doi.org/10.1186/s11689-021-09373-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium [texte imprimé] / Lauren SCHWARTZ, Auteur ; Assumpta CAIXÀS, Auteur ; Anastasia DIMITROPOULOS, Auteur ; Elisabeth DYKENS, Auteur ; Jessica DUIS, Auteur ; Stewart EINFELD, Auteur ; Louise GALLAGHER, Auteur ; Anthony HOLLAND, Auteur ; Lauren RICE, Auteur ; Elizabeth ROOF, Auteur ; Parisa SALEHI, Auteur ; Theresa STRONG, Auteur ; Bonnie TAYLOR, Auteur ; Kate WOODCOCK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Anxiety  Consensus  Humans  Prader-Willi Syndrome/therapy  Quality of Life  Behavior  Hyperphagia  Obsessive–compulsive  Patient vignettes  Prader-Willi syndrome  Rigidity  Social cognition  Temper outbursts  Willi Research AC–no competing interests AD–no competing interests ED–no  competing interests JD–no competing interests SE–no competing interests AH–no  competing interests LR–no competing interests ER–no competing interest PS is  involved in clinical research funded by Soleno Therapeutics, Inc. & Millendo  Therapeutics, Inc. TS is an employee of Foundation for Prader Willi Research  (FPWR) and Director of Research Programs at FPWR BT–no competing interests KW–no  competing interests Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org ) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC "Behavior Outcomes Working Group" sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive-compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS. En ligne : https://dx.doi.org/10.1186/s11689-021-09373-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Characterisation of the clinical phenotype in Phelan-McDermid syndrome / Mónica BURDEUS-OLAVARRIETA in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Characterisation of the clinical phenotype in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Mónica BURDEUS-OLAVARRIETA, Auteur ; Antonia SAN JOSÉ-CÁCERES, Auteur ; Alicia GARCIA-ALCON, Auteur ; Javier GONZALEZ-PENAS, Auteur ; Patricia HERNÁNDEZ-JUSDADO, Auteur ; Mara PARELLADA-REDONDO, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/genetics  Child  Chromosome Deletion  Chromosome Disorders/complications/diagnosis/genetics  Chromosomes, Human, Pair 22  Female  Humans  Phenotype  22q13 deletion syndrome  Autism  Intellectual disability  Phelan-McDermid syndrome  SHANK3  salary for the study coordination and data collection from Asociación Síndrome  Phelan-McDermid España. ASJC has been a consultant for F. Hoffmann-La Roche Ltd,  consults for Servier and is involved in clinical trials conducted by Servier. The  present work is unrelated to the above grants and relationships. MPR has been a  consultant for Fundación Alicia Koplowitz, the EMA and Instituto de Salud Carlos  III (ISCIII)  consults for Servier and Exeltis  has received grant/research  support from CIBERSAM, Fundación Alicia Koplowitz, Fundación Mutua Madrileña,  ISCIII and Horizon2020  receives travel support from Exeltis  and is involved in  clinical trials conducted by Servier, F. Hoffmann-La Roche Ltd and Horizon2020.  The present work is unrelated to the above grants and relationships. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developmental delay, ID, speech impairments, hypotonia and autistic behaviours, although its presentation and symptom severity vary widely. In this study, we provide a thorough description of the behavioural profile in PMS and explore differences related to deletion size and language ability. METHODS: We used standard clinical assessment instruments to measure altered behaviour, adaptive skills and autistic symptomatology in sixty participants with PMS (30 females, median age 8.5 years, SD=7.1). We recorded background information and other clinical manifestations and explored associations with deletion size. We performed descriptive and inferential analyses for group comparison. RESULTS: We found delayed gross and fine motor development, delayed and impaired language (~70% of participants non or minimally verbal), ID of different degrees and adaptive functioning ranging from severe to borderline impairment. Approximately 40% of participants experienced developmental regression, and half of those regained skills. Autistic symptoms were frequent and variable in severity, with a median ADOS-2 CSS score of 6 for every domain. Sensory processing anomalies, hyperactivity, attentional problems and medical comorbidities were commonplace. The degree of language and motor development appeared to be associated with deletion size. CONCLUSIONS: This study adds to previous research on the clinical descriptions of PMS and supports results suggesting wide variability of symptom severity and its association with deletion size. It makes the case for suitable psychotherapeutic and pharmacological approaches, for longitudinal studies to strengthen our understanding of possible clinical courses and for more precise genomic analysis. En ligne : https://dx.doi.org/10.1186/s11689-021-09370-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Characterisation of the clinical phenotype in Phelan-McDermid syndrome [texte imprimé] / Mónica BURDEUS-OLAVARRIETA, Auteur ; Antonia SAN JOSÉ-CÁCERES, Auteur ; Alicia GARCIA-ALCON, Auteur ; Javier GONZALEZ-PENAS, Auteur ; Patricia HERNÁNDEZ-JUSDADO, Auteur ; Mara PARELLADA-REDONDO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/complications/genetics  Child  Chromosome Deletion  Chromosome Disorders/complications/diagnosis/genetics  Chromosomes, Human, Pair 22  Female  Humans  Phenotype  22q13 deletion syndrome  Autism  Intellectual disability  Phelan-McDermid syndrome  SHANK3  salary for the study coordination and data collection from Asociación Síndrome  Phelan-McDermid España. ASJC has been a consultant for F. Hoffmann-La Roche Ltd,  consults for Servier and is involved in clinical trials conducted by Servier. The  present work is unrelated to the above grants and relationships. MPR has been a  consultant for Fundación Alicia Koplowitz, the EMA and Instituto de Salud Carlos  III (ISCIII)  consults for Servier and Exeltis  has received grant/research  support from CIBERSAM, Fundación Alicia Koplowitz, Fundación Mutua Madrileña,  ISCIII and Horizon2020  receives travel support from Exeltis  and is involved in  clinical trials conducted by Servier, F. Hoffmann-La Roche Ltd and Horizon2020.  The present work is unrelated to the above grants and relationships. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developmental delay, ID, speech impairments, hypotonia and autistic behaviours, although its presentation and symptom severity vary widely. In this study, we provide a thorough description of the behavioural profile in PMS and explore differences related to deletion size and language ability. METHODS: We used standard clinical assessment instruments to measure altered behaviour, adaptive skills and autistic symptomatology in sixty participants with PMS (30 females, median age 8.5 years, SD=7.1). We recorded background information and other clinical manifestations and explored associations with deletion size. We performed descriptive and inferential analyses for group comparison. RESULTS: We found delayed gross and fine motor development, delayed and impaired language (~70% of participants non or minimally verbal), ID of different degrees and adaptive functioning ranging from severe to borderline impairment. Approximately 40% of participants experienced developmental regression, and half of those regained skills. Autistic symptoms were frequent and variable in severity, with a median ADOS-2 CSS score of 6 for every domain. Sensory processing anomalies, hyperactivity, attentional problems and medical comorbidities were commonplace. The degree of language and motor development appeared to be associated with deletion size. CONCLUSIONS: This study adds to previous research on the clinical descriptions of PMS and supports results suggesting wide variability of symptom severity and its association with deletion size. It makes the case for suitable psychotherapeutic and pharmacological approaches, for longitudinal studies to strengthen our understanding of possible clinical courses and for more precise genomic analysis. En ligne : https://dx.doi.org/10.1186/s11689-021-09370-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Behavioural and physiological response to frustration in autistic youth: associations with irritability / Virginia CARTER LENO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Behavioural and physiological response to frustration in autistic youth: associations with irritability Type de document : texte imprimé Auteurs : Virginia CARTER LENO, Auteur ; Georgia FORTH, Auteur ; Susie CHANDLER, Auteur ; Philippa WHITE, Auteur ; Isabel YORKE, Auteur ; Tony CHARMAN, Auteur ; Andrew PICKLES, Auteur ; Emily SIMONOFF, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Autistic Disorder  Frustration  Humans  Irritable Mood  Longitudinal Studies  Autism spectrum disorders  Heart rate  Irritability  Physiology Index. décimale : PER Périodiques Résumé : BACKGROUND: Irritability is a common and impairing occurrence in autistic youth, yet the underlying mechanisms are not well-known. In typically developing populations, differences in frustration response have been suggested as important driver of the behavioural symptoms of irritability. Research exploring the role of frustration response as a risk factor for irritability in autistic populations is limited and often uses parent report or observer ratings; objective measures of frustration response appropriate for use in autistic populations are required to advance the field. METHODS: In the current study, fifty-two autistic adolescents aged 13-17 years from a population-based longitudinal study completed an experimental task designed to induce frustration through exposure to periods of unexpected delay. Behavioural (number of button presses) and physiological (heart rate; HR) metrics were collected during delay periods. Irritability was measured using the parent-rated Affective Reactivity Index (ARI). Analyses used mixed-level models to test whether irritability was associated with different slopes of behavioural and physiological response to experimentally induced frustration during the task. Age and baseline HR (for the physiological data only) were included as covariates. RESULTS: Analyses showed a marginal association between irritability and the slope of behavioural response (incident rate ratio (IRR) =.98, p=.06), and a significant association with the slope of physiological response (b=-.10, p=.04); higher levels of irritability were associated with a dampened behavioural and physiological response, as indicated by flatter slopes of change over the course of the task. The pattern of results largely remained in sensitivity analyses, although the association with physiological response became non-significant when adjusting for IQ, autism symptom severity, and medication use (b=-.10, p=.10). CONCLUSIONS: Results suggest that the current experimental task may be a useful objective measure of frustration response for use with autistic populations, and that a non-adaptive response to frustration may be one biological mechanism underpinning irritability in autistic youth. This may represent an important target for future intervention studies. En ligne : https://dx.doi.org/10.1186/s11689-021-09374-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Behavioural and physiological response to frustration in autistic youth: associations with irritability [texte imprimé] / Virginia CARTER LENO, Auteur ; Georgia FORTH, Auteur ; Susie CHANDLER, Auteur ; Philippa WHITE, Auteur ; Isabel YORKE, Auteur ; Tony CHARMAN, Auteur ; Andrew PICKLES, Auteur ; Emily SIMONOFF, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Autistic Disorder  Frustration  Humans  Irritable Mood  Longitudinal Studies  Autism spectrum disorders  Heart rate  Irritability  Physiology Index. décimale : PER Périodiques Résumé : BACKGROUND: Irritability is a common and impairing occurrence in autistic youth, yet the underlying mechanisms are not well-known. In typically developing populations, differences in frustration response have been suggested as important driver of the behavioural symptoms of irritability. Research exploring the role of frustration response as a risk factor for irritability in autistic populations is limited and often uses parent report or observer ratings; objective measures of frustration response appropriate for use in autistic populations are required to advance the field. METHODS: In the current study, fifty-two autistic adolescents aged 13-17 years from a population-based longitudinal study completed an experimental task designed to induce frustration through exposure to periods of unexpected delay. Behavioural (number of button presses) and physiological (heart rate; HR) metrics were collected during delay periods. Irritability was measured using the parent-rated Affective Reactivity Index (ARI). Analyses used mixed-level models to test whether irritability was associated with different slopes of behavioural and physiological response to experimentally induced frustration during the task. Age and baseline HR (for the physiological data only) were included as covariates. RESULTS: Analyses showed a marginal association between irritability and the slope of behavioural response (incident rate ratio (IRR) =.98, p=.06), and a significant association with the slope of physiological response (b=-.10, p=.04); higher levels of irritability were associated with a dampened behavioural and physiological response, as indicated by flatter slopes of change over the course of the task. The pattern of results largely remained in sensitivity analyses, although the association with physiological response became non-significant when adjusting for IQ, autism symptom severity, and medication use (b=-.10, p=.10). CONCLUSIONS: Results suggest that the current experimental task may be a useful objective measure of frustration response for use with autistic populations, and that a non-adaptive response to frustration may be one biological mechanism underpinning irritability in autistic youth. This may represent an important target for future intervention studies. En ligne : https://dx.doi.org/10.1186/s11689-021-09374-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence / M. MARLBOROUGH in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence Type de document : texte imprimé Auteurs : M. MARLBOROUGH, Auteur ; A. WELHAM, Auteur ; C. JONES, Auteur ; S. RECKLESS, Auteur ; J. MOSS, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/epidemiology  Female  Fragile X Syndrome/complications/epidemiology  Humans  Male  Prevalence  Autistic spectrum disorder  Fragile X syndrome  Meta-analysis Index. décimale : PER Périodiques Résumé : BACKGROUND: Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear. METHOD: A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS. RESULTS AND CONCLUSION: Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13-18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal. En ligne : https://dx.doi.org/10.1186/s11689-021-09362-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence [texte imprimé] / M. MARLBOROUGH, Auteur ; A. WELHAM, Auteur ; C. JONES, Auteur ; S. RECKLESS, Auteur ; J. MOSS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/complications/epidemiology  Female  Fragile X Syndrome/complications/epidemiology  Humans  Male  Prevalence  Autistic spectrum disorder  Fragile X syndrome  Meta-analysis Index. décimale : PER Périodiques Résumé : BACKGROUND: Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear. METHOD: A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS. RESULTS AND CONCLUSION: Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13-18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal. En ligne : https://dx.doi.org/10.1186/s11689-021-09362-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Neurodevelopmental profiles of preschool-age children in Flint, Michigan: a latent profile analysis / Shuting ZHENG in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Neurodevelopmental profiles of preschool-age children in Flint, Michigan: a latent profile analysis Type de document : texte imprimé Auteurs : Shuting ZHENG, Auteur ; Somer L. BISHOP, Auteur ; Tiffany CEJA, Auteur ; Mona HANNA-ATTISHA, Auteur ; Kaja LEWINN, Auteur Langues : Anglais (eng) Mots-clés : Adaptation, Psychological  Child, Preschool  Executive Function  Humans  Michigan/epidemiology  Problem Behavior  Risk Factors  Developmental patterns  Executive functioning  Flint water crisis  Preschool  Service Index. décimale : PER Périodiques Résumé : OBJECTIVE: Children in Flint, Michigan, have experienced myriad sociodemographic adversities exacerbated by the Flint water crisis. To help inform child-focused prevention and intervention efforts, we aimed to describe patterns of neurodevelopmental outcomes among preschoolers who experienced the Flint water crisis before age 2 years. METHOD: Participants were 170 preschoolers who completed a comprehensive neurodevelopmental assessment battery, including directly administered measures of cognitive and executive functioning and maternal-report of adaptive skills and behavioral problems. We used latent profile analysis to derive subgroups. Multivariate multinomial logistic regression was conducted to examine the predictors of profile memberships, including child sex and maternal/family-level factors selected from an array of measured exposures using least absolute shrinkage and selection operator regression. RESULTS: Three latent profiles were identified: Profile 1-relative weakness in all domains (50%); Profile 2-normative functioning in all domains (34.1%); and Profile 3-relative strengths in executive function and behavior (15.9%). Profile 1 showed lower scores across cognitive and behavioral domains. Profile 2 demonstrated abilities within the normal range across domains. Profile 3 showed relative strength in executive functioning with few behavior problems, despite lower cognitive performance. Children across all profiles showed adaptive behavior in the adequate range. Child sex and maternal IQ were significant predictors of profile membership. CONCLUSIONS: Children in Flint demonstrated diverse patterns of development in the face of sociodemographic and environmental adversities. Comprehensive screening and neurodevelopmental profiling of children in this at-risk population are needed to identify areas of needs and inform appropriate service delivery. En ligne : https://dx.doi.org/10.1186/s11689-021-09377-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Neurodevelopmental profiles of preschool-age children in Flint, Michigan: a latent profile analysis [texte imprimé] / Shuting ZHENG, Auteur ; Somer L. BISHOP, Auteur ; Tiffany CEJA, Auteur ; Mona HANNA-ATTISHA, Auteur ; Kaja LEWINN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adaptation, Psychological  Child, Preschool  Executive Function  Humans  Michigan/epidemiology  Problem Behavior  Risk Factors  Developmental patterns  Executive functioning  Flint water crisis  Preschool  Service Index. décimale : PER Périodiques Résumé : OBJECTIVE: Children in Flint, Michigan, have experienced myriad sociodemographic adversities exacerbated by the Flint water crisis. To help inform child-focused prevention and intervention efforts, we aimed to describe patterns of neurodevelopmental outcomes among preschoolers who experienced the Flint water crisis before age 2 years. METHOD: Participants were 170 preschoolers who completed a comprehensive neurodevelopmental assessment battery, including directly administered measures of cognitive and executive functioning and maternal-report of adaptive skills and behavioral problems. We used latent profile analysis to derive subgroups. Multivariate multinomial logistic regression was conducted to examine the predictors of profile memberships, including child sex and maternal/family-level factors selected from an array of measured exposures using least absolute shrinkage and selection operator regression. RESULTS: Three latent profiles were identified: Profile 1-relative weakness in all domains (50%); Profile 2-normative functioning in all domains (34.1%); and Profile 3-relative strengths in executive function and behavior (15.9%). Profile 1 showed lower scores across cognitive and behavioral domains. Profile 2 demonstrated abilities within the normal range across domains. Profile 3 showed relative strength in executive functioning with few behavior problems, despite lower cognitive performance. Children across all profiles showed adaptive behavior in the adequate range. Child sex and maternal IQ were significant predictors of profile membership. CONCLUSIONS: Children in Flint demonstrated diverse patterns of development in the face of sociodemographic and environmental adversities. Comprehensive screening and neurodevelopmental profiling of children in this at-risk population are needed to identify areas of needs and inform appropriate service delivery. En ligne : https://dx.doi.org/10.1186/s11689-021-09377-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Cerebral cortex and blood transcriptome changes in mouse neonates prenatally exposed to air pollution particulate matter / Amin HAGHANI in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Cerebral cortex and blood transcriptome changes in mouse neonates prenatally exposed to air pollution particulate matter Type de document : texte imprimé Auteurs : Amin HAGHANI, Auteur ; Jason I. FEINBERG, Auteur ; Kristy C. LEWIS, Auteur ; Christine LADD-ACOSTA, Auteur ; Richard G. JOHNSON, Auteur ; Andrew E. JAFFE, Auteur ; Constantinos SIOUTAS, Auteur ; Caleb E. FINCH, Auteur ; Daniel B. CAMPBELL, Auteur ; Todd E. MORGAN, Auteur ; Heather E. VOLK, Auteur Langues : Anglais (eng) Mots-clés : Air Pollutants/toxicity  Air Pollution/adverse effects  Animals  Cerebral Cortex  Female  Male  Mice  Particulate Matter/toxicity  Pregnancy  Transcriptome  Blood  RNA sequencing  nPM Index. décimale : PER Périodiques Résumé : BACKGROUND: Prenatal exposure to air pollutants is associated with increased risk for neurodevelopmental and neurodegenerative disorders. However, few studies have identified transcriptional changes related to air pollutant exposure. METHODS: RNA sequencing was used to examine transcriptomic changes in blood and cerebral cortex of three male and three female mouse neonates prenatally exposed to traffic-related nano-sized particulate matter (nPM) compared to three male and three female mouse neonates prenatally exposed to control filter air. RESULTS: We identified 19 nPM-associated differentially expressed genes (nPM-DEGs) in blood and 124 nPM-DEGs in cerebral cortex. The cerebral cortex transcriptional responses to nPM suggested neuroinflammation involvement, including CREB1, BDNF, and IFNγ genes. Both blood and brain tissues showed nPM transcriptional changes related to DNA damage, oxidative stress, and immune responses. Three blood nPM-DEGs showed a canonical correlation of 0.98 with 14 nPM-DEGS in the cerebral cortex, suggesting a convergence of gene expression changes in blood and cerebral cortex. Exploratory sex-stratified analyses suggested a higher number of nPM-DEGs in female cerebral cortex than male cerebral cortex. The sex-stratified analyses identified 2 nPM-DEGs (Rgl2 and Gm37534) shared between blood and cerebral cortex in a sex-dependent manner. CONCLUSIONS: Our findings suggest that prenatal nPM exposure induces transcriptional changes in the cerebral cortex, some of which are also observed in blood. Further research is needed to replicate nPM-induced transcriptional changes with additional biologically relevant time points for brain development. En ligne : https://dx.doi.org/10.1186/s11689-021-09380-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Cerebral cortex and blood transcriptome changes in mouse neonates prenatally exposed to air pollution particulate matter [texte imprimé] / Amin HAGHANI, Auteur ; Jason I. FEINBERG, Auteur ; Kristy C. LEWIS, Auteur ; Christine LADD-ACOSTA, Auteur ; Richard G. JOHNSON, Auteur ; Andrew E. JAFFE, Auteur ; Constantinos SIOUTAS, Auteur ; Caleb E. FINCH, Auteur ; Daniel B. CAMPBELL, Auteur ; Todd E. MORGAN, Auteur ; Heather E. VOLK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Air Pollutants/toxicity  Air Pollution/adverse effects  Animals  Cerebral Cortex  Female  Male  Mice  Particulate Matter/toxicity  Pregnancy  Transcriptome  Blood  RNA sequencing  nPM Index. décimale : PER Périodiques Résumé : BACKGROUND: Prenatal exposure to air pollutants is associated with increased risk for neurodevelopmental and neurodegenerative disorders. However, few studies have identified transcriptional changes related to air pollutant exposure. METHODS: RNA sequencing was used to examine transcriptomic changes in blood and cerebral cortex of three male and three female mouse neonates prenatally exposed to traffic-related nano-sized particulate matter (nPM) compared to three male and three female mouse neonates prenatally exposed to control filter air. RESULTS: We identified 19 nPM-associated differentially expressed genes (nPM-DEGs) in blood and 124 nPM-DEGs in cerebral cortex. The cerebral cortex transcriptional responses to nPM suggested neuroinflammation involvement, including CREB1, BDNF, and IFNγ genes. Both blood and brain tissues showed nPM transcriptional changes related to DNA damage, oxidative stress, and immune responses. Three blood nPM-DEGs showed a canonical correlation of 0.98 with 14 nPM-DEGS in the cerebral cortex, suggesting a convergence of gene expression changes in blood and cerebral cortex. Exploratory sex-stratified analyses suggested a higher number of nPM-DEGs in female cerebral cortex than male cerebral cortex. The sex-stratified analyses identified 2 nPM-DEGs (Rgl2 and Gm37534) shared between blood and cerebral cortex in a sex-dependent manner. CONCLUSIONS: Our findings suggest that prenatal nPM exposure induces transcriptional changes in the cerebral cortex, some of which are also observed in blood. Further research is needed to replicate nPM-induced transcriptional changes with additional biologically relevant time points for brain development. En ligne : https://dx.doi.org/10.1186/s11689-021-09380-3 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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) 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 [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

Visual and somatosensory feedback mechanisms of precision manual motor control in autism spectrum disorder / Robin L. SHAFER in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Visual and somatosensory feedback mechanisms of precision manual motor control in autism spectrum disorder Type de document : texte imprimé Auteurs : Robin L. SHAFER, Auteur ; Zheng WANG, Auteur ; James BARTOLOTTI, Auteur ; Matthew W. MOSCONI, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  Feedback  Hand Strength  Humans  Young Adult  Autism spectrum disorders  Entropy  Fine motor control  Grip force  Proprioception  Sensorimotor  Sensory reweighting  Visual gain Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with autism spectrum disorder (ASD) show deficits processing sensory feedback to reactively adjust ongoing motor behaviors. Atypical reliance on visual and somatosensory feedback each have been reported during motor behaviors in ASD suggesting that impairments are not specific to one sensory domain but may instead reflect a deficit in multisensory processing, resulting in reliance on unimodal feedback. The present study tested this hypothesis by examining motor behavior across different visual and somatosensory feedback conditions during a visually guided precision grip force test. METHODS: Participants with ASD (N = 43) and age-matched typically developing (TD) controls (N = 23), ages 10-20 years, completed a test of precision gripping. They pressed on force transducers with their index finger and thumb while receiving visual feedback on a computer screen in the form of a horizontal bar that moved upwards with increased force. They were instructed to press so that the bar reached the level of a static target bar and then to hold their grip force as steadily as possible. Visual feedback was manipulated by changing the gain of the force bar. Somatosensory feedback was manipulated by applying 80 Hz tendon vibration at the wrist to disrupt the somatosensory percept. Force variability (standard deviation) and irregularity (sample entropy) were examined using multilevel linear models. RESULTS: While TD controls showed increased force variability with the tendon vibration on compared to off, individuals with ASD showed similar levels of force variability across tendon vibration conditions. Individuals with ASD showed stronger age-associated reductions in force variability relative to controls across conditions. The ASD group also showed greater age-associated increases in force irregularity relative to controls, especially at higher gain levels and when the tendon vibrator was turned on. CONCLUSIONS: Our findings that disrupting somatosensory feedback did not contribute to changes in force variability or regularity among individuals with ASD suggests a reduced ability to integrate somatosensory feedback information to guide ongoing precision manual motor behavior. We also document stronger age-associated gains in force control in ASD relative to TD suggesting delayed development of multisensory feedback control of motor behavior. En ligne : https://dx.doi.org/10.1186/s11689-021-09381-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Visual and somatosensory feedback mechanisms of precision manual motor control in autism spectrum disorder [texte imprimé] / Robin L. SHAFER, Auteur ; Zheng WANG, Auteur ; James BARTOLOTTI, Auteur ; Matthew W. MOSCONI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  Feedback  Hand Strength  Humans  Young Adult  Autism spectrum disorders  Entropy  Fine motor control  Grip force  Proprioception  Sensorimotor  Sensory reweighting  Visual gain Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with autism spectrum disorder (ASD) show deficits processing sensory feedback to reactively adjust ongoing motor behaviors. Atypical reliance on visual and somatosensory feedback each have been reported during motor behaviors in ASD suggesting that impairments are not specific to one sensory domain but may instead reflect a deficit in multisensory processing, resulting in reliance on unimodal feedback. The present study tested this hypothesis by examining motor behavior across different visual and somatosensory feedback conditions during a visually guided precision grip force test. METHODS: Participants with ASD (N = 43) and age-matched typically developing (TD) controls (N = 23), ages 10-20 years, completed a test of precision gripping. They pressed on force transducers with their index finger and thumb while receiving visual feedback on a computer screen in the form of a horizontal bar that moved upwards with increased force. They were instructed to press so that the bar reached the level of a static target bar and then to hold their grip force as steadily as possible. Visual feedback was manipulated by changing the gain of the force bar. Somatosensory feedback was manipulated by applying 80 Hz tendon vibration at the wrist to disrupt the somatosensory percept. Force variability (standard deviation) and irregularity (sample entropy) were examined using multilevel linear models. RESULTS: While TD controls showed increased force variability with the tendon vibration on compared to off, individuals with ASD showed similar levels of force variability across tendon vibration conditions. Individuals with ASD showed stronger age-associated reductions in force variability relative to controls across conditions. The ASD group also showed greater age-associated increases in force irregularity relative to controls, especially at higher gain levels and when the tendon vibrator was turned on. CONCLUSIONS: Our findings that disrupting somatosensory feedback did not contribute to changes in force variability or regularity among individuals with ASD suggests a reduced ability to integrate somatosensory feedback information to guide ongoing precision manual motor behavior. We also document stronger age-associated gains in force control in ASD relative to TD suggesting delayed development of multisensory feedback control of motor behavior. En ligne : https://dx.doi.org/10.1186/s11689-021-09381-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Resting state EEG in youth with ASD: age, sex, and relation to phenotype / Emily NEUHAUS in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Resting state EEG in youth with ASD: age, sex, and relation to phenotype Type de document : texte imprimé Auteurs : Emily NEUHAUS, Auteur ; Sarah J. LOWRY, Auteur ; Megha SANTHOSH, Auteur ; Anna KRESSE, Auteur ; Laura A. EDWARDS, Auteur ; Jack KELLER, Auteur ; Erin J. LIBSACK, Auteur ; Veronica Y. KANG, Auteur ; Adam NAPLES, Auteur ; Allison JACK, Auteur ; Shafali JESTE, Auteur ; James C. MCPARTLAND, Auteur ; Elizabeth AYLWARD, Auteur ; Raphael BERNIER, Auteur ; Susan BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; John D. VAN HORN, Auteur ; Kevin PELPHREY, Auteur ; Sara Jane WEBB, Auteur ; THE ACE GENDAAR NETWORK, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Aged  Autism Spectrum Disorder/diagnosis  Brain  Electroencephalography  Female  Humans  Male  Phenotype  Sex Characteristics  Alpha  Autism  Biomarker  Eeg  Power  Resting  Sex differences  funding from Janssen Research and Development, and receives royalties from  Guilford Press, Lambert, and Springer. The remaining authors report no  affiliations with or involvement in any organization or entity with any financial  interest in the outcome of this project. Index. décimale : PER Périodiques Résumé : BACKGROUND: Identification of ASD biomarkers is a key priority for understanding etiology, facilitating early diagnosis, monitoring developmental trajectories, and targeting treatment efforts. Efforts have included exploration of resting state encephalography (EEG), which has a variety of relevant neurodevelopmental correlates and can be collected with minimal burden. However, EEG biomarkers may not be equally valid across the autism spectrum, as ASD is strikingly heterogeneous and individual differences may moderate EEG-behavior associations. Biological sex is a particularly important potential moderator, as females with ASD appear to differ from males with ASD in important ways that may influence biomarker accuracy. METHODS: We examined effects of biological sex, age, and ASD diagnosis on resting state EEG among a large, sex-balanced sample of youth with (N = 142, 43% female) and without (N = 138, 49% female) ASD collected across four research sites. Absolute power was extracted across five frequency bands and nine brain regions, and effects of sex, age, and diagnosis were analyzed using mixed-effects linear regression models. Exploratory partial correlations were computed to examine EEG-behavior associations in ASD, with emphasis on possible sex differences in associations. RESULTS: Decreased EEG power across multiple frequencies was associated with female sex and older age. Youth with ASD displayed decreased alpha power relative to peers without ASD, suggesting increased neural activation during rest. Associations between EEG and behavior varied by sex. Whereas power across various frequencies correlated with social skills, nonverbal IQ, and repetitive behavior for males with ASD, no such associations were observed for females with ASD. CONCLUSIONS: Research using EEG as a possible ASD biomarker must consider individual differences among participants, as these features influence baseline EEG measures and moderate associations between EEG and important behavioral outcomes. Failure to consider factors such as biological sex in such research risks defining biomarkers that misrepresent females with ASD, hindering understanding of the neurobiology, development, and intervention response of this important population. En ligne : https://dx.doi.org/10.1186/s11689-021-09390-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Resting state EEG in youth with ASD: age, sex, and relation to phenotype [texte imprimé] / Emily NEUHAUS, Auteur ; Sarah J. LOWRY, Auteur ; Megha SANTHOSH, Auteur ; Anna KRESSE, Auteur ; Laura A. EDWARDS, Auteur ; Jack KELLER, Auteur ; Erin J. LIBSACK, Auteur ; Veronica Y. KANG, Auteur ; Adam NAPLES, Auteur ; Allison JACK, Auteur ; Shafali JESTE, Auteur ; James C. MCPARTLAND, Auteur ; Elizabeth AYLWARD, Auteur ; Raphael BERNIER, Auteur ; Susan BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; John D. VAN HORN, Auteur ; Kevin PELPHREY, Auteur ; Sara Jane WEBB, Auteur ; THE ACE GENDAAR NETWORK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Aged  Autism Spectrum Disorder/diagnosis  Brain  Electroencephalography  Female  Humans  Male  Phenotype  Sex Characteristics  Alpha  Autism  Biomarker  Eeg  Power  Resting  Sex differences  funding from Janssen Research and Development, and receives royalties from  Guilford Press, Lambert, and Springer. The remaining authors report no  affiliations with or involvement in any organization or entity with any financial  interest in the outcome of this project. Index. décimale : PER Périodiques Résumé : BACKGROUND: Identification of ASD biomarkers is a key priority for understanding etiology, facilitating early diagnosis, monitoring developmental trajectories, and targeting treatment efforts. Efforts have included exploration of resting state encephalography (EEG), which has a variety of relevant neurodevelopmental correlates and can be collected with minimal burden. However, EEG biomarkers may not be equally valid across the autism spectrum, as ASD is strikingly heterogeneous and individual differences may moderate EEG-behavior associations. Biological sex is a particularly important potential moderator, as females with ASD appear to differ from males with ASD in important ways that may influence biomarker accuracy. METHODS: We examined effects of biological sex, age, and ASD diagnosis on resting state EEG among a large, sex-balanced sample of youth with (N = 142, 43% female) and without (N = 138, 49% female) ASD collected across four research sites. Absolute power was extracted across five frequency bands and nine brain regions, and effects of sex, age, and diagnosis were analyzed using mixed-effects linear regression models. Exploratory partial correlations were computed to examine EEG-behavior associations in ASD, with emphasis on possible sex differences in associations. RESULTS: Decreased EEG power across multiple frequencies was associated with female sex and older age. Youth with ASD displayed decreased alpha power relative to peers without ASD, suggesting increased neural activation during rest. Associations between EEG and behavior varied by sex. Whereas power across various frequencies correlated with social skills, nonverbal IQ, and repetitive behavior for males with ASD, no such associations were observed for females with ASD. CONCLUSIONS: Research using EEG as a possible ASD biomarker must consider individual differences among participants, as these features influence baseline EEG measures and moderate associations between EEG and important behavioral outcomes. Failure to consider factors such as biological sex in such research risks defining biomarkers that misrepresent females with ASD, hindering understanding of the neurobiology, development, and intervention response of this important population. En ligne : https://dx.doi.org/10.1186/s11689-021-09390-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Predicting progress in word learning for children with autism and minimal verbal skills / Nancy C. BRADY in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Predicting progress in word learning for children with autism and minimal verbal skills Type de document : texte imprimé Auteurs : Nancy C. BRADY, Auteur ; Christine KOSIROG, Auteur ; Kandace FLEMING, Auteur ; Lindsay WILLIAMS, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/therapy  Autistic Disorder/diagnosis/therapy  Child  Child, Preschool  Communication  Female  Humans  Male  Treatment Outcome  Autism  Intervention  Minimally verbal  Speech Index. décimale : PER Périodiques Résumé : BACKGROUND: Approximately 30% of children diagnosed with autism remain minimally verbal past age 5. Interventions are often effective in increasing spoken communication for some of these children. Clinical and research decisions would be facilitated by identifying early indicators of progress in interventions. The purpose of this study was to investigate the relationship between speech sound measures obtained from the early phases of treatment and later treatment outcomes in children with autism and minimal verbal skills. METHODS: Twenty-three children (18 boys) between 5 and 9 years of age participated. We compared scores reflecting the phonemic features of word attempts produced during probes, and the number of correct words after 4 weeks of intervention to later word learning outcomes. RESULTS: Correlational and hierarchical regression analyses showed that both predictors were positively correlated with outcomes, but the phonemic scores were more strongly related than number of correct words. CONCLUSION: We conclude that phonemic scoring may be a useful measure to determine proximal gains in a spoken word learning intervention. Proximal measures are particularly helpful when trying to decide if the current course of intervention should be maintained or altered. TRIAL REGISTRATION: https://register.clinicaltrials.gov/prs/app/action/LoginUser?ts=2&cx=-jg9qo3 . En ligne : https://dx.doi.org/10.1186/s11689-021-09386-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Predicting progress in word learning for children with autism and minimal verbal skills [texte imprimé] / Nancy C. BRADY, Auteur ; Christine KOSIROG, Auteur ; Kandace FLEMING, Auteur ; Lindsay WILLIAMS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/diagnosis/therapy  Autistic Disorder/diagnosis/therapy  Child  Child, Preschool  Communication  Female  Humans  Male  Treatment Outcome  Autism  Intervention  Minimally verbal  Speech Index. décimale : PER Périodiques Résumé : BACKGROUND: Approximately 30% of children diagnosed with autism remain minimally verbal past age 5. Interventions are often effective in increasing spoken communication for some of these children. Clinical and research decisions would be facilitated by identifying early indicators of progress in interventions. The purpose of this study was to investigate the relationship between speech sound measures obtained from the early phases of treatment and later treatment outcomes in children with autism and minimal verbal skills. METHODS: Twenty-three children (18 boys) between 5 and 9 years of age participated. We compared scores reflecting the phonemic features of word attempts produced during probes, and the number of correct words after 4 weeks of intervention to later word learning outcomes. RESULTS: Correlational and hierarchical regression analyses showed that both predictors were positively correlated with outcomes, but the phonemic scores were more strongly related than number of correct words. CONCLUSION: We conclude that phonemic scoring may be a useful measure to determine proximal gains in a spoken word learning intervention. Proximal measures are particularly helpful when trying to decide if the current course of intervention should be maintained or altered. TRIAL REGISTRATION: https://register.clinicaltrials.gov/prs/app/action/LoginUser?ts=2&cx=-jg9qo3 . En ligne : https://dx.doi.org/10.1186/s11689-021-09386-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Neural correlates of schema-dependent episodic memory and association with behavioral flexibility in autism spectrum disorders and typical development / Kevin M. COOK in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Neural correlates of schema-dependent episodic memory and association with behavioral flexibility in autism spectrum disorders and typical development Type de document : texte imprimé Auteurs : Kevin M. COOK, Auteur ; Xiaozhen YOU, Auteur ; Joseph Bradley CHERRY, Auteur ; Junaid S. MERCHANT, Auteur ; Mary SKAPEK, Auteur ; Meredith D. POWERS, Auteur ; Cara E. PUGLIESE, Auteur ; Lauren KENWORTHY, Auteur ; Chandan J. VAIDYA, Auteur Langues : Anglais (eng) Mots-clés : Adult  Autism Spectrum Disorder  Child  Humans  Memory, Episodic  Mental Recall  Prefrontal Cortex/diagnostic imaging  Recognition, Psychology  Associative memory  Behavioral flexibility  Medial temporal lobe  Executive function  Prefrontal cortex  fMRI  Executive Function. The other authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Conceptual knowledge frameworks termed schemas facilitate memory formation and are posited to support flexible behavior. In adults, the medial temporal lobe (MTL) and medial prefrontal cortex (mPFC) trade-off in supporting schema-based memory formation, such that encoding of subsequently remembered schema-congruent information relies on mPFC, whereas schema-incongruent information relies on MTL. Whether this is true in the immature brain and relates to behavioral flexibility is unknown. In this preliminary investigation, we aimed to replicate the adult findings in typically developing (TD) children and to investigate the relevance to behavioral flexibility by examining a disorder with pathognomonic behavioral rigidity, autism spectrum disorder (ASD). METHODS: Children completed an associative subsequent memory paradigm, encoding object-scene pairs in an MRI scanner and subsequently completing a recognition test outside the scanner after a delay. Recognition performance was back sorted to construct remembered vs forgotten contrasts. One-way ANOVAS were conducted in MTL and mPFC masks for schema-congruency, followed by congruency by flexibility scores. Exploratory analyses were then conducted within the whole brain. RESULTS: As reported in adults, episodic memory was strongest for schema-congruent object-scene pairs, followed by intermediate pairs, and lowest for schema-incongruent pairs in both TD and ASD groups. However, the trade-off between mPFC and MTL in TD children differed from adult reports such that mPFC supported memory for intermediate schema-congruency and left anterior MTL supported memory for schema-congruent pairs. In ASD, mPFC engagement interacted with flexibility such that activation supporting memory for intermediate schema-congruency varied with parent-reported flexibility and was higher in those with more flexible behavior. A similar interaction was also observed in both the left dorsolateral and rostrolateral PFC in whole-brain analysis. CONCLUSION: Our findings provide the first preliminary evidence for the association of schema-based episodic memory formation and behavioral flexibility, an executive function impaired in multiple developmental disorders. Upon replication, this line of research holds promise for memory-based interventions addressing executive problems of behavioral rigidity. En ligne : https://dx.doi.org/10.1186/s11689-021-09388-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Neural correlates of schema-dependent episodic memory and association with behavioral flexibility in autism spectrum disorders and typical development [texte imprimé] / Kevin M. COOK, Auteur ; Xiaozhen YOU, Auteur ; Joseph Bradley CHERRY, Auteur ; Junaid S. MERCHANT, Auteur ; Mary SKAPEK, Auteur ; Meredith D. POWERS, Auteur ; Cara E. PUGLIESE, Auteur ; Lauren KENWORTHY, Auteur ; Chandan J. VAIDYA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adult  Autism Spectrum Disorder  Child  Humans  Memory, Episodic  Mental Recall  Prefrontal Cortex/diagnostic imaging  Recognition, Psychology  Associative memory  Behavioral flexibility  Medial temporal lobe  Executive function  Prefrontal cortex  fMRI  Executive Function. The other authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Conceptual knowledge frameworks termed schemas facilitate memory formation and are posited to support flexible behavior. In adults, the medial temporal lobe (MTL) and medial prefrontal cortex (mPFC) trade-off in supporting schema-based memory formation, such that encoding of subsequently remembered schema-congruent information relies on mPFC, whereas schema-incongruent information relies on MTL. Whether this is true in the immature brain and relates to behavioral flexibility is unknown. In this preliminary investigation, we aimed to replicate the adult findings in typically developing (TD) children and to investigate the relevance to behavioral flexibility by examining a disorder with pathognomonic behavioral rigidity, autism spectrum disorder (ASD). METHODS: Children completed an associative subsequent memory paradigm, encoding object-scene pairs in an MRI scanner and subsequently completing a recognition test outside the scanner after a delay. Recognition performance was back sorted to construct remembered vs forgotten contrasts. One-way ANOVAS were conducted in MTL and mPFC masks for schema-congruency, followed by congruency by flexibility scores. Exploratory analyses were then conducted within the whole brain. RESULTS: As reported in adults, episodic memory was strongest for schema-congruent object-scene pairs, followed by intermediate pairs, and lowest for schema-incongruent pairs in both TD and ASD groups. However, the trade-off between mPFC and MTL in TD children differed from adult reports such that mPFC supported memory for intermediate schema-congruency and left anterior MTL supported memory for schema-congruent pairs. In ASD, mPFC engagement interacted with flexibility such that activation supporting memory for intermediate schema-congruency varied with parent-reported flexibility and was higher in those with more flexible behavior. A similar interaction was also observed in both the left dorsolateral and rostrolateral PFC in whole-brain analysis. CONCLUSION: Our findings provide the first preliminary evidence for the association of schema-based episodic memory formation and behavioral flexibility, an executive function impaired in multiple developmental disorders. Upon replication, this line of research holds promise for memory-based interventions addressing executive problems of behavioral rigidity. En ligne : https://dx.doi.org/10.1186/s11689-021-09388-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Utilization of telemedicine to support caregivers of young children with ASD and their Part C service providers: a comparison of intervention outcomes across three models of service delivery / Laura L. CORONA in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Utilization of telemedicine to support caregivers of young children with ASD and their Part C service providers: a comparison of intervention outcomes across three models of service delivery Type de document : texte imprimé Auteurs : Laura L. CORONA, Auteur ; J. Alacia STAINBROOK, Auteur ; Kathleen SIMCOE, Auteur ; Liliana WAGNER, Auteur ; Bethena FOWLER, Auteur ; Amy S. WEITLAUF, Auteur ; A. Pablo JUAREZ, Auteur ; Zachary WARREN, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  covid-19  Caregivers  Child, Preschool  Humans  Pandemics  SARS-CoV-2  Telemedicine Index. décimale : PER Périodiques Résumé : BACKGROUND: Families of young children with autism spectrum disorder (ASD) frequently experience barriers to accessing evidence-based early intervention services. Telemedicine presents an opportunity to increase access to these services, particularly for families in rural and under-resourced areas. The present article describes a brief behavioral intervention and support model for families of young children with concerns for ASD. In the context of the COVID-19 pandemic, this service model shifted to telemedicine-only service delivery, resulting in an opportunity to analyze intervention outcomes from services delivered either via traditional in-person visits, telemedicine-only sessions, or a hybrid model including both in-person and telemedicine sessions. METHODS: Data are presented for 115 families with toddlers 16-33 months of age who participated in a six-session behavioral intervention and support service model either in-person, through telemedicine, or through a hybrid service model. This intervention was available for families referred for ASD evaluation through the state Part C early intervention program. Intervention feasibility, fidelity of implementation, child outcomes, and stakeholder satisfaction are compared across service delivery models. RESULTS: Caregivers, behavioral consultants, and Part C early intervention providers reported satisfaction with services, regardless of service delivery model. Caregivers and consultants also reported positive child outcomes. Statistically significant differences emerged for caregiver- and consultant-reported child outcomes in some domains, with stakeholders in the telemedicine-only group reporting slightly less improvement, compared to stakeholders in the in-person-only group. Caregivers and consultants in the telemedicine-only group also provided qualitative feedback on benefits and challenges related to telemedicine services. CONCLUSIONS: Both caregivers and behavioral consultants reported positive outcomes following a brief behavioral intervention and support model targeted at families of young children with concern for ASD. Stakeholders reported improvement in child behavior and satisfaction with services across in-person, telemedicine-only, and hybrid models of service delivery. These results suggest that telemedicine presents a promising opportunity for increasing service access. Additional research is needed to continue optimizing the experience of telemedicine-based service delivery for both families and intervention providers. En ligne : https://dx.doi.org/10.1186/s11689-021-09387-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Utilization of telemedicine to support caregivers of young children with ASD and their Part C service providers: a comparison of intervention outcomes across three models of service delivery [texte imprimé] / Laura L. CORONA, Auteur ; J. Alacia STAINBROOK, Auteur ; Kathleen SIMCOE, Auteur ; Liliana WAGNER, Auteur ; Bethena FOWLER, Auteur ; Amy S. WEITLAUF, Auteur ; A. Pablo JUAREZ, Auteur ; Zachary WARREN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder  covid-19  Caregivers  Child, Preschool  Humans  Pandemics  SARS-CoV-2  Telemedicine Index. décimale : PER Périodiques Résumé : BACKGROUND: Families of young children with autism spectrum disorder (ASD) frequently experience barriers to accessing evidence-based early intervention services. Telemedicine presents an opportunity to increase access to these services, particularly for families in rural and under-resourced areas. The present article describes a brief behavioral intervention and support model for families of young children with concerns for ASD. In the context of the COVID-19 pandemic, this service model shifted to telemedicine-only service delivery, resulting in an opportunity to analyze intervention outcomes from services delivered either via traditional in-person visits, telemedicine-only sessions, or a hybrid model including both in-person and telemedicine sessions. METHODS: Data are presented for 115 families with toddlers 16-33 months of age who participated in a six-session behavioral intervention and support service model either in-person, through telemedicine, or through a hybrid service model. This intervention was available for families referred for ASD evaluation through the state Part C early intervention program. Intervention feasibility, fidelity of implementation, child outcomes, and stakeholder satisfaction are compared across service delivery models. RESULTS: Caregivers, behavioral consultants, and Part C early intervention providers reported satisfaction with services, regardless of service delivery model. Caregivers and consultants also reported positive child outcomes. Statistically significant differences emerged for caregiver- and consultant-reported child outcomes in some domains, with stakeholders in the telemedicine-only group reporting slightly less improvement, compared to stakeholders in the in-person-only group. Caregivers and consultants in the telemedicine-only group also provided qualitative feedback on benefits and challenges related to telemedicine services. CONCLUSIONS: Both caregivers and behavioral consultants reported positive outcomes following a brief behavioral intervention and support model targeted at families of young children with concern for ASD. Stakeholders reported improvement in child behavior and satisfaction with services across in-person, telemedicine-only, and hybrid models of service delivery. These results suggest that telemedicine presents a promising opportunity for increasing service access. Additional research is needed to continue optimizing the experience of telemedicine-based service delivery for both families and intervention providers. En ligne : https://dx.doi.org/10.1186/s11689-021-09387-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) / Timothy P.L. ROBERTS in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) Type de document : texte imprimé Auteurs : Timothy P.L. ROBERTS, Auteur ; Emily S. KUSCHNER, Auteur ; J. Christopher EDGAR, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Biomarkers  Brain/diagnostic imaging  Child  Evoked Potentials, Auditory  Humans  Magnetoencephalography Index. décimale : PER Périodiques Résumé : This paper reviews a candidate biomarker for ASD, the M50 auditory evoked response component, detected by magnetoencephalography (MEG) and presents a position on the roles and opportunities for such a biomarker, as well as converging evidence from allied imaging techniques (magnetic resonance imaging, MRI and spectroscopy, MRS). Data is presented on prolonged M50 latencies in ASD as well as extension to include children with ASD with significant language and cognitive impairments in whom M50 latency delays are exacerbated. Modeling of the M50 latency by consideration of the properties of auditory pathway white matter is shown to be successful in typical development but challenged by heterogeneity in ASD; this, however, is capitalized upon to identify a distinct subpopulation of children with ASD whose M50 latencies lie well outside the range of values predictable from the typically developing model. Interestingly, this subpopulation is characterized by low levels of the inhibitory neurotransmitter GABA. Following from this, we discuss a potential use of the M50 latency in indicating "target engagement" acutely with administration of a GABA-B agonist, potentially distinguishing "responders" from "non-responders" with the implication of optimizing inclusion for clinical trials of such agents. Implications for future application, including potential evaluation of infants with genetic risk factors, are discussed. As such, the broad scope of potential of a representative candidate biological marker, the M50 latency, is introduced along with potential future applications.This paper outlines a strategy for understanding brain dysfunction in individuals with intellectual and developmental disabilities (IDD). It is proposed that a multimodal approach (collection of brain structure, chemistry, and neuronal functional data) will identify IDD subpopulations who share a common disease pathway, and thus identify individuals with IDD who might ultimately benefit from specific treatments. After briefly demonstrating the need and potential for scope, examples from studies examining brain function and structure in children with autism spectrum disorder (ASD) illustrate how measures of brain neuronal function (from magnetoencephalography, MEG), brain structure (from magnetic resonance imaging, MRI, especially diffusion MRI), and brain chemistry (MR spectroscopy) can help us better understand the heterogeneity in ASD and form the basis of multivariate biological markers (biomarkers) useable to define clinical subpopulations. Similar approaches can be applied to understand brain dysfunction in neurodevelopmental disorders (NDD) in general. In large part, this paper represents our endeavors as part of the CHOP/Penn NICHD-funded intellectual and developmental disabilities research center (IDDRC) over the past decade. En ligne : https://dx.doi.org/10.1186/s11689-021-09385-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) [texte imprimé] / Timothy P.L. ROBERTS, Auteur ; Emily S. KUSCHNER, Auteur ; J. Christopher EDGAR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/diagnosis  Biomarkers  Brain/diagnostic imaging  Child  Evoked Potentials, Auditory  Humans  Magnetoencephalography Index. décimale : PER Périodiques Résumé : This paper reviews a candidate biomarker for ASD, the M50 auditory evoked response component, detected by magnetoencephalography (MEG) and presents a position on the roles and opportunities for such a biomarker, as well as converging evidence from allied imaging techniques (magnetic resonance imaging, MRI and spectroscopy, MRS). Data is presented on prolonged M50 latencies in ASD as well as extension to include children with ASD with significant language and cognitive impairments in whom M50 latency delays are exacerbated. Modeling of the M50 latency by consideration of the properties of auditory pathway white matter is shown to be successful in typical development but challenged by heterogeneity in ASD; this, however, is capitalized upon to identify a distinct subpopulation of children with ASD whose M50 latencies lie well outside the range of values predictable from the typically developing model. Interestingly, this subpopulation is characterized by low levels of the inhibitory neurotransmitter GABA. Following from this, we discuss a potential use of the M50 latency in indicating "target engagement" acutely with administration of a GABA-B agonist, potentially distinguishing "responders" from "non-responders" with the implication of optimizing inclusion for clinical trials of such agents. Implications for future application, including potential evaluation of infants with genetic risk factors, are discussed. As such, the broad scope of potential of a representative candidate biological marker, the M50 latency, is introduced along with potential future applications.This paper outlines a strategy for understanding brain dysfunction in individuals with intellectual and developmental disabilities (IDD). It is proposed that a multimodal approach (collection of brain structure, chemistry, and neuronal functional data) will identify IDD subpopulations who share a common disease pathway, and thus identify individuals with IDD who might ultimately benefit from specific treatments. After briefly demonstrating the need and potential for scope, examples from studies examining brain function and structure in children with autism spectrum disorder (ASD) illustrate how measures of brain neuronal function (from magnetoencephalography, MEG), brain structure (from magnetic resonance imaging, MRI, especially diffusion MRI), and brain chemistry (MR spectroscopy) can help us better understand the heterogeneity in ASD and form the basis of multivariate biological markers (biomarkers) useable to define clinical subpopulations. Similar approaches can be applied to understand brain dysfunction in neurodevelopmental disorders (NDD) in general. In large part, this paper represents our endeavors as part of the CHOP/Penn NICHD-funded intellectual and developmental disabilities research center (IDDRC) over the past decade. En ligne : https://dx.doi.org/10.1186/s11689-021-09385-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

The gut-microbiota-brain axis in autism: what Drosophila models can offer? / Safa SALIM in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : The gut-microbiota-brain axis in autism: what Drosophila models can offer? Type de document : texte imprimé Auteurs : Safa SALIM, Auteur ; Ayesha BANU, Auteur ; Amira ALWA, Auteur ; Swetha B.M. GOWDA, Auteur ; Farhan MOHAMMAD, Auteur Langues : Anglais (eng) Mots-clés : Animals  Autism Spectrum Disorder  Autistic Disorder  Brain  Drosophila  Gastrointestinal Microbiome  Humans  Autism spectrum disorders  Gastrointestinal issues  Gut-microbiome-brain axis Index. décimale : PER Périodiques Résumé : The idea that alterations in gut-microbiome-brain axis (GUMBA)-mediated communication play a crucial role in human brain disorders like autism remains a topic of intensive research in various labs. Gastrointestinal issues are a common comorbidity in patients with autism spectrum disorder (ASD). Although gut microbiome and microbial metabolites have been implicated in the etiology of ASD, the underlying molecular mechanism remains largely unknown. In this review, we have summarized recent findings in human and animal models highlighting the role of the gut-brain axis in ASD. We have discussed genetic and neurobehavioral characteristics of Drosophila as an animal model to study the role of GUMBA in ASD. The utility of Drosophila fruit flies as an amenable genetic tool, combined with axenic and gnotobiotic approaches, and availability of transgenic flies may reveal mechanistic insight into gut-microbiota-brain interactions and the impact of its alteration on behaviors relevant to neurological disorders like ASD. En ligne : https://dx.doi.org/10.1186/s11689-021-09378-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] The gut-microbiota-brain axis in autism: what Drosophila models can offer? [texte imprimé] / Safa SALIM, Auteur ; Ayesha BANU, Auteur ; Amira ALWA, Auteur ; Swetha B.M. GOWDA, Auteur ; Farhan MOHAMMAD, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Animals  Autism Spectrum Disorder  Autistic Disorder  Brain  Drosophila  Gastrointestinal Microbiome  Humans  Autism spectrum disorders  Gastrointestinal issues  Gut-microbiome-brain axis Index. décimale : PER Périodiques Résumé : The idea that alterations in gut-microbiome-brain axis (GUMBA)-mediated communication play a crucial role in human brain disorders like autism remains a topic of intensive research in various labs. Gastrointestinal issues are a common comorbidity in patients with autism spectrum disorder (ASD). Although gut microbiome and microbial metabolites have been implicated in the etiology of ASD, the underlying molecular mechanism remains largely unknown. In this review, we have summarized recent findings in human and animal models highlighting the role of the gut-brain axis in ASD. We have discussed genetic and neurobehavioral characteristics of Drosophila as an animal model to study the role of GUMBA in ASD. The utility of Drosophila fruit flies as an amenable genetic tool, combined with axenic and gnotobiotic approaches, and availability of transgenic flies may reveal mechanistic insight into gut-microbiota-brain interactions and the impact of its alteration on behaviors relevant to neurological disorders like ASD. En ligne : https://dx.doi.org/10.1186/s11689-021-09378-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk / Natasha MARRUS in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk Type de document : texte imprimé Auteurs : Natasha MARRUS, Auteur ; Tychele N. TURNER, Auteur ; Elizabeth FORSEN, Auteur ; Drew BOLSTER, Auteur ; Alison MARVIN, Auteur ; Andrew WHITEHOUSE, Auteur ; Laura KLINGER, Auteur ; Christina A. GURNETT, Auteur ; J.N. CONSTANTINO, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics  Autistic Disorder/epidemiology/genetics  Genetic Counseling  Humans  Parents  Prospective Studies  Early detection  Family studies  Personalized medicine  Reproductive health planning  for the Social Responsiveness Scale. Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample. A next essential step is to investigate whether there are measurable characteristics of individual parents placing them at higher or lower recurrence risk, as this information could allow more personalized genetic counseling. METHODS: We assembled what is to our knowledge the largest collection of data on the ability of four measurable characteristics of unaffected prospective parents to specify risk for autism among their offspring: (1) sub clinical autistic trait burden, (2) parental history of a sibling with ASD, (3) transmitted autosomal molecular genetic abnormalities, and (4) parental age. Leveraging phenotypic and genetic data in curated family cohorts, we evaluate the respective associations between these factors and child outcome when autism is present in the family in the parental generation. RESULTS: All four characteristics were associated with elevation in offspring risk; however, the magnitude of their predictive power-with the exception of isolated rare inherited pathogenic variants -does not yet reach a threshold that would typically be considered actionable for reproductive decision-making. CONCLUSIONS: Individual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable more robust prediction either singly or when combined with the risk variables examined in this study. En ligne : https://dx.doi.org/10.1186/s11689-021-09389-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk [texte imprimé] / Natasha MARRUS, Auteur ; Tychele N. TURNER, Auteur ; Elizabeth FORSEN, Auteur ; Drew BOLSTER, Auteur ; Alison MARVIN, Auteur ; Andrew WHITEHOUSE, Auteur ; Laura KLINGER, Auteur ; Christina A. GURNETT, Auteur ; J.N. CONSTANTINO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics  Autistic Disorder/epidemiology/genetics  Genetic Counseling  Humans  Parents  Prospective Studies  Early detection  Family studies  Personalized medicine  Reproductive health planning  for the Social Responsiveness Scale. Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample. A next essential step is to investigate whether there are measurable characteristics of individual parents placing them at higher or lower recurrence risk, as this information could allow more personalized genetic counseling. METHODS: We assembled what is to our knowledge the largest collection of data on the ability of four measurable characteristics of unaffected prospective parents to specify risk for autism among their offspring: (1) sub clinical autistic trait burden, (2) parental history of a sibling with ASD, (3) transmitted autosomal molecular genetic abnormalities, and (4) parental age. Leveraging phenotypic and genetic data in curated family cohorts, we evaluate the respective associations between these factors and child outcome when autism is present in the family in the parental generation. RESULTS: All four characteristics were associated with elevation in offspring risk; however, the magnitude of their predictive power-with the exception of isolated rare inherited pathogenic variants -does not yet reach a threshold that would typically be considered actionable for reproductive decision-making. CONCLUSIONS: Individual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable more robust prediction either singly or when combined with the risk variables examined in this study. En ligne : https://dx.doi.org/10.1186/s11689-021-09389-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder / Heather E. OLSON in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder Type de document : texte imprimé Auteurs : Heather E. OLSON, Auteur ; Carolyn I. DANIELS, Auteur ; Isabel HAVILAND, Auteur ; Lindsay C. SWANSON, Auteur ; Caitlin A. GREENE, Auteur ; Anne Marie M. DENNY, Auteur ; Scott T. DEMAREST, Auteur ; Elia PESTANA-KNIGHT, Auteur ; Xiaoming ZHANG, Auteur ; Ahsan N. MOOSA, Auteur ; Andrea FIDELL, Auteur ; Judith L. WEISENBERG, Auteur ; Bernhard SUTER, Auteur ; Cary FU, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur ; Eric D. MARSH, Auteur ; Timothy A. BENKE, Auteur ; Annapurna PODURI, Auteur Langues : Anglais (eng) Mots-clés : Epilepsy/genetics/therapy  Epileptic Syndromes/genetics/therapy  Humans  Protein Serine-Threonine Kinases/genetics  Spasms, Infantile/genetics/therapy  CDKL5 deficiency disorder  Clinical trials  Developmental encephalopathy  Emerging therapies  Epileptic encephalopathy  Ketogenic diet  Movement disorders  Vagus nerve stimulator  Therapeutics and Marinus Pharmaceuticals. PI of "Diagnosis and genotype-phenotype  correlations in early life epilepsy and CDKL5 disorder" NINDS award  (1K23NS107646). Funding for the Boston Children’s Hospital CDKL5 Center of  Excellence provided by the International Foundation for CDKL5 Research.  Consulting for Takeda and Ovid Therapeutics. Scott T. Demarest: site PI of  clinical trials in CDD sponsored by Ovid Therapeutics and Marinus  Pharmaceuticals. Consulting for Upsher-Smith and BioMarin. All remuneration has  been made to his department. Elia Pestana-Knight: site PI of clinical trial in  CDD sponsored by Marinus Pharmaceuticals. Co-PI of Cleveland Clinic CDD Center of  Excellence established by the International Foundation for CDKL5 Research.  Consultant for Marinus Pharmaceuticals. Ahsan N. Moosa: site co-investigator for  clinical trials in CDD sponsored by Marinus Pharmaceuticals. Bernhard Suter: site  PI of a clinical trial in CDD sponsored by Marinus Pharmaceuticals. Site PI of a  clinical trial in Rett syndrome sponsored by RSRT, the investigator-initiated  trial using ketamine. PI of Texas Children’s Hospital CDD Center of Excellence  established by the International Foundation for CDKL5 Research. Jeffrey L. Neul:  consultancy to GW Pharmaceuticals, Acadia, AveXis, Ovid Therapeutics. Data and  Safety Monitoring Board for Roche, Ovid Therapeutics. Alan K. Percy: PI of the  NICHD-funded Natural History Study. Site PI of clinical trials in Rett syndrome  sponsored by Anavex and Acadia and the investigator-initiated trial using  ketamine. Consultant with Acadia. Eric D. Marsh: site PI of clinical trial in CDD  sponsored by Marinus Pharmaceuticals. Site PI for clinical trials for DS and LGS  trials sponsored by Zogenix. Provides research support and clinical Center of  Excellence support for the International Foundation for CDKL5 Research. Timothy  A. Benke: site co-PI of clinical trials in CDD sponsored by Ovid Therapeutics and  Marinus Pharmaceuticals. Consulting for AveXis, Ovid Therapeutics, Takeda, and  Marinus Pharmeceuticals. All remuneration has been made to his department.  Annapurna Poduri: SAB for TevardBio, no personal remuneration. Carolyn Daniels,  Isabel Haviland, Lindsay Swanson, Caitlin Greene, AnneMarie M. Denny, Andrea  Fidell, Cary Fu, Xiaoming Zhang, Judith L. Weisenberg: no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is primarily symptom-based and informed by experience in caring for this population. METHODS: We describe medication and non-medication approaches to treatment of epilepsy and additional key neurologic symptoms (sleep disturbances, behavioral issues, movement disorders, and swallowing dysfunction) in a cohort of 177 individuals meeting criteria for CDD, 154 evaluated at 4 CDKL5 Centers of Excellence in the USA and 40 identified through the NIH Natural History Study of Rett and Related Disorders. RESULTS: The four most frequently prescribed anti-seizure medications were broad spectrum, prescribed in over 50% of individuals. While the goal was not to ascertain efficacy, we obtained data from 86 individuals regarding response to treatment, with 2-week response achieved in 14-48% and sustained 3-month response in 5-36%, of those with known response. Additional treatments for seizures included cannabis derivatives, tried in over one-third of individuals, and clinical trial medications. In combination with pharmacological treatment, 50% of individuals were treated with ketogenic diet for attempted seizure control. Surgical approaches included vagus nerve stimulators, functional hemispherectomy, and corpus callosotomy, but numbers were too limited to assess response. Nearly one-third of individuals received pharmacologic treatment for sleep disturbances, 13% for behavioral dysregulation and movement disorders, and 43% had gastrostomy tubes. CONCLUSIONS: Treatment for neurologic features of CDD is currently symptom-based and empiric rather than CDD-specific, though clinical trials for CDD are emerging. Epilepsy in this population is highly refractory, and no specific anti-seizure medication was associated with improved seizure control. Ketogenic diet is commonly used in patients with CDD. While behavioral interventions are commonly instituted, information on the use of medications for sleep, behavioral management, and movement disorders is sparse and would benefit from further characterization and optimization of treatment approaches. The heterogeneity in treatment approaches highlights the need for systematic review and guidelines for CDD. Additional disease-specific and disease-modifying treatments are in development. En ligne : https://dx.doi.org/10.1186/s11689-021-09384-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder [texte imprimé] / Heather E. OLSON, Auteur ; Carolyn I. DANIELS, Auteur ; Isabel HAVILAND, Auteur ; Lindsay C. SWANSON, Auteur ; Caitlin A. GREENE, Auteur ; Anne Marie M. DENNY, Auteur ; Scott T. DEMAREST, Auteur ; Elia PESTANA-KNIGHT, Auteur ; Xiaoming ZHANG, Auteur ; Ahsan N. MOOSA, Auteur ; Andrea FIDELL, Auteur ; Judith L. WEISENBERG, Auteur ; Bernhard SUTER, Auteur ; Cary FU, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur ; Eric D. MARSH, Auteur ; Timothy A. BENKE, Auteur ; Annapurna PODURI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Epilepsy/genetics/therapy  Epileptic Syndromes/genetics/therapy  Humans  Protein Serine-Threonine Kinases/genetics  Spasms, Infantile/genetics/therapy  CDKL5 deficiency disorder  Clinical trials  Developmental encephalopathy  Emerging therapies  Epileptic encephalopathy  Ketogenic diet  Movement disorders  Vagus nerve stimulator  Therapeutics and Marinus Pharmaceuticals. PI of "Diagnosis and genotype-phenotype  correlations in early life epilepsy and CDKL5 disorder" NINDS award  (1K23NS107646). Funding for the Boston Children’s Hospital CDKL5 Center of  Excellence provided by the International Foundation for CDKL5 Research.  Consulting for Takeda and Ovid Therapeutics. Scott T. Demarest: site PI of  clinical trials in CDD sponsored by Ovid Therapeutics and Marinus  Pharmaceuticals. Consulting for Upsher-Smith and BioMarin. All remuneration has  been made to his department. Elia Pestana-Knight: site PI of clinical trial in  CDD sponsored by Marinus Pharmaceuticals. Co-PI of Cleveland Clinic CDD Center of  Excellence established by the International Foundation for CDKL5 Research.  Consultant for Marinus Pharmaceuticals. Ahsan N. Moosa: site co-investigator for  clinical trials in CDD sponsored by Marinus Pharmaceuticals. Bernhard Suter: site  PI of a clinical trial in CDD sponsored by Marinus Pharmaceuticals. Site PI of a  clinical trial in Rett syndrome sponsored by RSRT, the investigator-initiated  trial using ketamine. PI of Texas Children’s Hospital CDD Center of Excellence  established by the International Foundation for CDKL5 Research. Jeffrey L. Neul:  consultancy to GW Pharmaceuticals, Acadia, AveXis, Ovid Therapeutics. Data and  Safety Monitoring Board for Roche, Ovid Therapeutics. Alan K. Percy: PI of the  NICHD-funded Natural History Study. Site PI of clinical trials in Rett syndrome  sponsored by Anavex and Acadia and the investigator-initiated trial using  ketamine. Consultant with Acadia. Eric D. Marsh: site PI of clinical trial in CDD  sponsored by Marinus Pharmaceuticals. Site PI for clinical trials for DS and LGS  trials sponsored by Zogenix. Provides research support and clinical Center of  Excellence support for the International Foundation for CDKL5 Research. Timothy  A. Benke: site co-PI of clinical trials in CDD sponsored by Ovid Therapeutics and  Marinus Pharmaceuticals. Consulting for AveXis, Ovid Therapeutics, Takeda, and  Marinus Pharmeceuticals. All remuneration has been made to his department.  Annapurna Poduri: SAB for TevardBio, no personal remuneration. Carolyn Daniels,  Isabel Haviland, Lindsay Swanson, Caitlin Greene, AnneMarie M. Denny, Andrea  Fidell, Cary Fu, Xiaoming Zhang, Judith L. Weisenberg: no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is primarily symptom-based and informed by experience in caring for this population. METHODS: We describe medication and non-medication approaches to treatment of epilepsy and additional key neurologic symptoms (sleep disturbances, behavioral issues, movement disorders, and swallowing dysfunction) in a cohort of 177 individuals meeting criteria for CDD, 154 evaluated at 4 CDKL5 Centers of Excellence in the USA and 40 identified through the NIH Natural History Study of Rett and Related Disorders. RESULTS: The four most frequently prescribed anti-seizure medications were broad spectrum, prescribed in over 50% of individuals. While the goal was not to ascertain efficacy, we obtained data from 86 individuals regarding response to treatment, with 2-week response achieved in 14-48% and sustained 3-month response in 5-36%, of those with known response. Additional treatments for seizures included cannabis derivatives, tried in over one-third of individuals, and clinical trial medications. In combination with pharmacological treatment, 50% of individuals were treated with ketogenic diet for attempted seizure control. Surgical approaches included vagus nerve stimulators, functional hemispherectomy, and corpus callosotomy, but numbers were too limited to assess response. Nearly one-third of individuals received pharmacologic treatment for sleep disturbances, 13% for behavioral dysregulation and movement disorders, and 43% had gastrostomy tubes. CONCLUSIONS: Treatment for neurologic features of CDD is currently symptom-based and empiric rather than CDD-specific, though clinical trials for CDD are emerging. Epilepsy in this population is highly refractory, and no specific anti-seizure medication was associated with improved seizure control. Ketogenic diet is commonly used in patients with CDD. While behavioral interventions are commonly instituted, information on the use of medications for sleep, behavioral management, and movement disorders is sparse and would benefit from further characterization and optimization of treatment approaches. The heterogeneity in treatment approaches highlights the need for systematic review and guidelines for CDD. Additional disease-specific and disease-modifying treatments are in development. En ligne : https://dx.doi.org/10.1186/s11689-021-09384-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis / Catherine LAVERTY in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis Type de document : texte imprimé Auteurs : Catherine LAVERTY, Auteur ; Andrew SURTEES, Auteur ; Rory O'SULLIVAN, Auteur ; Daniel SUTHERLAND, Auteur ; Christopher JONES, Auteur ; Caroline RICHARDS, Auteur Langues : Anglais (eng) Mots-clés : Autistic Disorder/epidemiology  Female  Humans  Infant, Newborn  Pregnancy  Premature Birth/epidemiology  Prevalence  Autism  Low birth weight  Meta-analysis  Prematurity  Preterm Index. décimale : PER Périodiques Résumé : INTRODUCTION: Preterm birth (<37 weeks) adversely affects development in behavioural, cognitive and mental health domains. Heightened rates of autism are identified in preterm populations, indicating that prematurity may confer an increased likelihood of adverse neurodevelopmental outcomes. The present meta-analysis aims to synthesise existing literature and calculate pooled prevalence estimates for rates of autism characteristics in preterm populations. METHODS: Search terms were generated from inspection of relevant high-impact papers and a recent meta-analysis. Five databases were searched from database creation until December 2020 with PRISMA guidelines followed throughout. RESULTS: 10,900 papers were retrieved, with 52 papers included in the final analyses, further classified by assessment method (screening tools N=30, diagnostic assessment N=29). Pooled prevalence estimates for autism in preterm samples was 20% when using screening tools and 6% when using diagnostic assessments. The odds of an autism diagnosis were 3.3 times higher in individuals born preterm than in the general population. CONCLUSIONS: The pooled prevalence estimate of autism characteristics in individuals born preterm is considerably higher than in the general population. Findings highlight the clinical need to provide further monitoring and support for individuals born preterm. En ligne : https://dx.doi.org/10.1186/s11689-021-09382-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis [texte imprimé] / Catherine LAVERTY, Auteur ; Andrew SURTEES, Auteur ; Rory O'SULLIVAN, Auteur ; Daniel SUTHERLAND, Auteur ; Christopher JONES, Auteur ; Caroline RICHARDS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autistic Disorder/epidemiology  Female  Humans  Infant, Newborn  Pregnancy  Premature Birth/epidemiology  Prevalence  Autism  Low birth weight  Meta-analysis  Prematurity  Preterm Index. décimale : PER Périodiques Résumé : INTRODUCTION: Preterm birth (<37 weeks) adversely affects development in behavioural, cognitive and mental health domains. Heightened rates of autism are identified in preterm populations, indicating that prematurity may confer an increased likelihood of adverse neurodevelopmental outcomes. The present meta-analysis aims to synthesise existing literature and calculate pooled prevalence estimates for rates of autism characteristics in preterm populations. METHODS: Search terms were generated from inspection of relevant high-impact papers and a recent meta-analysis. Five databases were searched from database creation until December 2020 with PRISMA guidelines followed throughout. RESULTS: 10,900 papers were retrieved, with 52 papers included in the final analyses, further classified by assessment method (screening tools N=30, diagnostic assessment N=29). Pooled prevalence estimates for autism in preterm samples was 20% when using screening tools and 6% when using diagnostic assessments. The odds of an autism diagnosis were 3.3 times higher in individuals born preterm than in the general population. CONCLUSIONS: The pooled prevalence estimate of autism characteristics in individuals born preterm is considerably higher than in the general population. Findings highlight the clinical need to provide further monitoring and support for individuals born preterm. En ligne : https://dx.doi.org/10.1186/s11689-021-09382-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Effects of sensory distraction and salience priming on emotion identification in autism: an fMRI study / Genevieve PATTERSON in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Effects of sensory distraction and salience priming on emotion identification in autism: an fMRI study Type de document : texte imprimé Auteurs : Genevieve PATTERSON, Auteur ; Kaitlin K. CUMMINGS, Auteur ; Jiwon JUNG, Auteur ; Nana J. OKADA, Auteur ; Nim TOTTENHAM, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Shulamite A. GREEN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Amygdala  Autism Spectrum Disorder/diagnostic imaging  Autistic Disorder  Child  Emotions  Humans  Magnetic Resonance Imaging  Autism  Emotion  Sensory over-responsivity  Sensory processing  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Social interaction often occurs in noisy environments with many extraneous sensory stimuli. This is especially relevant for youth with autism spectrum disorders (ASD) who commonly experience sensory over-responsivity (SOR) in addition to social challenges. However, the relationship between SOR and social difficulties is still poorly understood and thus rarely addressed in interventions. This study investigated the effect of auditory sensory distracters on neural processing of emotion identification in youth with ASD and the effects of increasing attention to social cues by priming participants with their own emotional faces. METHODS: While undergoing functional magnetic resonance imaging (fMRI), 30 youth with ASD and 24 typically developing (TD) age-matched controls (ages 8-17 years) identified faces as happy or angry with and without simultaneously hearing aversive environmental noises. Halfway through the task, participants also viewed videos of their own emotional faces. The relationship between parent-rated auditory SOR and brain responses during the task was also examined. RESULTS: Despite showing comparable behavioral performance on the task, ASD and TD youth demonstrated distinct patterns of neural activity. Compared to TD, ASD youth showed greater increases in amygdala, insula, and primary sensory regions when identifying emotions with noises compared to no sounds. After viewing videos of their own emotion faces, ASD youth showed greater increases in medial prefrontal cortex activation compared to TD youth. Within ASD youth, lower SOR was associated with reduced increased activity in subcortical regions after the prime and greater increased activity in the ventromedial prefrontal cortex after the prime, particularly in trials with noises. CONCLUSIONS: The results suggest that the sensory environment plays an important role in how ASD youth process social information. Additionally, we demonstrated that increasing attention to relevant social cues helps ASD youth engage frontal regions involved in higher-order social cognition, a mechanism that could be targeted in interventions. Importantly, the effect of the intervention may depend on individual differences in SOR, supporting the importance of pre-screening youth for sensory challenges prior to social interventions. En ligne : https://dx.doi.org/10.1186/s11689-021-09391-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Effects of sensory distraction and salience priming on emotion identification in autism: an fMRI study [texte imprimé] / Genevieve PATTERSON, Auteur ; Kaitlin K. CUMMINGS, Auteur ; Jiwon JUNG, Auteur ; Nana J. OKADA, Auteur ; Nim TOTTENHAM, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Shulamite A. GREEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Amygdala  Autism Spectrum Disorder/diagnostic imaging  Autistic Disorder  Child  Emotions  Humans  Magnetic Resonance Imaging  Autism  Emotion  Sensory over-responsivity  Sensory processing  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Social interaction often occurs in noisy environments with many extraneous sensory stimuli. This is especially relevant for youth with autism spectrum disorders (ASD) who commonly experience sensory over-responsivity (SOR) in addition to social challenges. However, the relationship between SOR and social difficulties is still poorly understood and thus rarely addressed in interventions. This study investigated the effect of auditory sensory distracters on neural processing of emotion identification in youth with ASD and the effects of increasing attention to social cues by priming participants with their own emotional faces. METHODS: While undergoing functional magnetic resonance imaging (fMRI), 30 youth with ASD and 24 typically developing (TD) age-matched controls (ages 8-17 years) identified faces as happy or angry with and without simultaneously hearing aversive environmental noises. Halfway through the task, participants also viewed videos of their own emotional faces. The relationship between parent-rated auditory SOR and brain responses during the task was also examined. RESULTS: Despite showing comparable behavioral performance on the task, ASD and TD youth demonstrated distinct patterns of neural activity. Compared to TD, ASD youth showed greater increases in amygdala, insula, and primary sensory regions when identifying emotions with noises compared to no sounds. After viewing videos of their own emotion faces, ASD youth showed greater increases in medial prefrontal cortex activation compared to TD youth. Within ASD youth, lower SOR was associated with reduced increased activity in subcortical regions after the prime and greater increased activity in the ventromedial prefrontal cortex after the prime, particularly in trials with noises. CONCLUSIONS: The results suggest that the sensory environment plays an important role in how ASD youth process social information. Additionally, we demonstrated that increasing attention to relevant social cues helps ASD youth engage frontal regions involved in higher-order social cognition, a mechanism that could be targeted in interventions. Importantly, the effect of the intervention may depend on individual differences in SOR, supporting the importance of pre-screening youth for sensory challenges prior to social interventions. En ligne : https://dx.doi.org/10.1186/s11689-021-09391-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism / Shlomit BEKER in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism Type de document : texte imprimé Auteurs : Shlomit BEKER, Auteur ; John J. FOXE, Auteur ; John VENTICINQUE, Auteur ; Juliana BATES, Auteur ; Elizabeth M. RIDGEWAY, Auteur ; Roseann C. SCHAAF, Auteur ; Sophie MOLHOLM, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Child  Evoked Potentials  Evoked Potentials, Visual  Humans  Infant  Reproducibility of Results  Asd  Biomarkers  Eeg  Erp  Icc  Inter-trial variability Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are associated with altered sensory processing and perception. Scalp recordings of electrical brain activity time-locked to sensory events (event-related potentials; ERPs) provide precise information on the time-course of related altered neural activity, and can be used to model the cortical loci of the underlying neural networks. Establishing the test-retest reliability of these sensory brain responses in ASD is critical to their use as biomarkers of neural dysfunction in this population. METHODS: EEG and behavioral data were acquired from 33 children diagnosed with ASD aged 6-9.4 years old, while they performed a child-friendly task at two different time-points, separated by an average of 5.2 months. In two blocked conditions, participants responded to the occurrence of an auditory target that was either preceded or not by repeating visual stimuli. Intraclass correlation coefficients (ICCs) were used to assess test-retest reliability of measures of sensory (auditory and visual) ERPs and performance, for the two experimental conditions. To assess the degree of reliability of the variability of responses within individuals, this analysis was performed on the variance of the measurements, in addition to their means. This yielded a total of 24 measures for which ICCs were calculated. RESULTS: The data yielded significant good ICC values for 10 of the 24 measurements. These spanned across behavioral and ERPs data, experimental conditions, and mean as well as variance measures. Measures of the visual evoked responses accounted for a disproportionately large number of the significant ICCs; follow-up analyses suggested that the contribution of a greater number of trials to the visual compared to the auditory ERP partially accounted for this. CONCLUSIONS: This analysis reveals that sensory ERPs and related behavior can be highly reliable across multiple measurement time-points in ASD. The data further suggest that the inter-trial and inter-participant variability reported in the ASD literature likely represents replicable individual participant neural processing differences. The stability of these neuronal readouts supports their use as biomarkers in clinical and translational studies on ASD. Given the minimum interval between test/retest sessions across our cohort, we also conclude that for the tested age-range of ~ 6 to 9.4 years, these reliability measures are valid for at least a 3-month interval. Limitations related to EEG task demands and study length in the context of a clinical trial are considered. En ligne : https://dx.doi.org/10.1186/s11689-021-09383-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism [texte imprimé] / Shlomit BEKER, Auteur ; John J. FOXE, Auteur ; John VENTICINQUE, Auteur ; Juliana BATES, Auteur ; Elizabeth M. RIDGEWAY, Auteur ; Roseann C. SCHAAF, Auteur ; Sophie MOLHOLM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Child  Evoked Potentials  Evoked Potentials, Visual  Humans  Infant  Reproducibility of Results  Asd  Biomarkers  Eeg  Erp  Icc  Inter-trial variability Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are associated with altered sensory processing and perception. Scalp recordings of electrical brain activity time-locked to sensory events (event-related potentials; ERPs) provide precise information on the time-course of related altered neural activity, and can be used to model the cortical loci of the underlying neural networks. Establishing the test-retest reliability of these sensory brain responses in ASD is critical to their use as biomarkers of neural dysfunction in this population. METHODS: EEG and behavioral data were acquired from 33 children diagnosed with ASD aged 6-9.4 years old, while they performed a child-friendly task at two different time-points, separated by an average of 5.2 months. In two blocked conditions, participants responded to the occurrence of an auditory target that was either preceded or not by repeating visual stimuli. Intraclass correlation coefficients (ICCs) were used to assess test-retest reliability of measures of sensory (auditory and visual) ERPs and performance, for the two experimental conditions. To assess the degree of reliability of the variability of responses within individuals, this analysis was performed on the variance of the measurements, in addition to their means. This yielded a total of 24 measures for which ICCs were calculated. RESULTS: The data yielded significant good ICC values for 10 of the 24 measurements. These spanned across behavioral and ERPs data, experimental conditions, and mean as well as variance measures. Measures of the visual evoked responses accounted for a disproportionately large number of the significant ICCs; follow-up analyses suggested that the contribution of a greater number of trials to the visual compared to the auditory ERP partially accounted for this. CONCLUSIONS: This analysis reveals that sensory ERPs and related behavior can be highly reliable across multiple measurement time-points in ASD. The data further suggest that the inter-trial and inter-participant variability reported in the ASD literature likely represents replicable individual participant neural processing differences. The stability of these neuronal readouts supports their use as biomarkers in clinical and translational studies on ASD. Given the minimum interval between test/retest sessions across our cohort, we also conclude that for the tested age-range of ~ 6 to 9.4 years, these reliability measures are valid for at least a 3-month interval. Limitations related to EEG task demands and study length in the context of a clinical trial are considered. En ligne : https://dx.doi.org/10.1186/s11689-021-09383-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome / Olivier PERCHE in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome Type de document : texte imprimé Auteurs : Olivier PERCHE, Auteur ; Fabien LESNE, Auteur ; Alain PATAT, Auteur ; Susanne RAAB, Auteur ; Roy TWYMAN, Auteur ; Robert H. RING, Auteur ; Sylvain BRIAULT, Auteur Langues : Anglais (eng) Mots-clés : Animals  Biomarkers  Contrast Sensitivity  Electroretinography  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/complications/diagnosis/genetics  Male  Mice  Biomarker  Erg  Fmr1  Fragile X syndrome  Sensory hypersensitivity  Therapeutics  researchers to Kaerus Bioscience Ltd. RT is member of Amron Neuroscience. Index. décimale : PER Périodiques Résumé : BACKGROUND: Disturbances in sensory function are an important clinical feature of neurodevelopmental disorders such as fragile X syndrome (FXS). Evidence also directly connects sensory abnormalities with the clinical expression of behavioral impairments in individuals with FXS; thus, positioning sensory function as a potential clinical target for the development of new therapeutics. Using electroretinography (ERG) and contrast sensitivity (CS), we previously reported the presence of sensory deficits in the visual system of the Fmr1(-/y) genetic mouse model of FXS. The goals of the current study were two-folds: (1) to assess the feasibility of measuring ERG and CS as a biomarker of sensory deficits in individuals with FXS, and (2) to investigate whether the deficits revealed by ERG and CS in Fmr1(-/y) mice translate to humans with FXS. METHODS: Both ERG and CS were measured in a cohort of male individuals with FXS (n = 20, 18-45 years) and age-matched healthy controls (n = 20, 18-45 years). Under light-adapted conditions, and using both single flash and flicker (repeated train of flashes) stimulation protocols, retinal function was recorded from individual subjects using a portable, handheld, full-field flash ERG device (RETeval®, LKC Technologies Inc., Gaithersburg, MD, USA). CS was assessed in each subject using the LEA SYMBOLS® low-contrast test (Good-Lite, Elgin, IL, USA). RESULTS: Data recording was successfully completed for ERG and assessment of CS in most individuals from both cohorts demonstrating the feasibility of these methods for use in the FXS population. Similar to previously reported findings from the Fmr1(-/y) genetic mouse model, individuals with FXS were found to exhibit reduced b-wave and flicker amplitude in ERG and an impaired ability to discriminate contrasts compared to healthy controls. CONCLUSIONS: This study demonstrates the feasibility of using ERG and CS for assessing visual deficits in FXS and establishes the translational validity of the Fmr1(-/y) mice phenotype to individuals with FXS. By including electrophysiological and functional readouts, the results of this study suggest the utility of both ERG and CS (ERG-CS) as complementary translational biomarkers for characterizing sensory abnormalities found in FXS, with potential applications to the clinical development of novel therapeutics that target sensory function abnormalities to treat core symptomatology in FXS. TRIAL REGISTRATION: ID-RCB number 2019-A01015-52 registered on the 17 May 2019. En ligne : https://dx.doi.org/10.1186/s11689-021-09375-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome [texte imprimé] / Olivier PERCHE, Auteur ; Fabien LESNE, Auteur ; Alain PATAT, Auteur ; Susanne RAAB, Auteur ; Roy TWYMAN, Auteur ; Robert H. RING, Auteur ; Sylvain BRIAULT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Animals  Biomarkers  Contrast Sensitivity  Electroretinography  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/complications/diagnosis/genetics  Male  Mice  Biomarker  Erg  Fmr1  Fragile X syndrome  Sensory hypersensitivity  Therapeutics  researchers to Kaerus Bioscience Ltd. RT is member of Amron Neuroscience. Index. décimale : PER Périodiques Résumé : BACKGROUND: Disturbances in sensory function are an important clinical feature of neurodevelopmental disorders such as fragile X syndrome (FXS). Evidence also directly connects sensory abnormalities with the clinical expression of behavioral impairments in individuals with FXS; thus, positioning sensory function as a potential clinical target for the development of new therapeutics. Using electroretinography (ERG) and contrast sensitivity (CS), we previously reported the presence of sensory deficits in the visual system of the Fmr1(-/y) genetic mouse model of FXS. The goals of the current study were two-folds: (1) to assess the feasibility of measuring ERG and CS as a biomarker of sensory deficits in individuals with FXS, and (2) to investigate whether the deficits revealed by ERG and CS in Fmr1(-/y) mice translate to humans with FXS. METHODS: Both ERG and CS were measured in a cohort of male individuals with FXS (n = 20, 18-45 years) and age-matched healthy controls (n = 20, 18-45 years). Under light-adapted conditions, and using both single flash and flicker (repeated train of flashes) stimulation protocols, retinal function was recorded from individual subjects using a portable, handheld, full-field flash ERG device (RETeval®, LKC Technologies Inc., Gaithersburg, MD, USA). CS was assessed in each subject using the LEA SYMBOLS® low-contrast test (Good-Lite, Elgin, IL, USA). RESULTS: Data recording was successfully completed for ERG and assessment of CS in most individuals from both cohorts demonstrating the feasibility of these methods for use in the FXS population. Similar to previously reported findings from the Fmr1(-/y) genetic mouse model, individuals with FXS were found to exhibit reduced b-wave and flicker amplitude in ERG and an impaired ability to discriminate contrasts compared to healthy controls. CONCLUSIONS: This study demonstrates the feasibility of using ERG and CS for assessing visual deficits in FXS and establishes the translational validity of the Fmr1(-/y) mice phenotype to individuals with FXS. By including electrophysiological and functional readouts, the results of this study suggest the utility of both ERG and CS (ERG-CS) as complementary translational biomarkers for characterizing sensory abnormalities found in FXS, with potential applications to the clinical development of novel therapeutics that target sensory function abnormalities to treat core symptomatology in FXS. TRIAL REGISTRATION: ID-RCB number 2019-A01015-52 registered on the 17 May 2019. En ligne : https://dx.doi.org/10.1186/s11689-021-09375-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Impact of Working Together for adults with autism spectrum disorder: a multifamily group intervention / Leann SMITH DAWALT in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Impact of Working Together for adults with autism spectrum disorder: a multifamily group intervention Type de document : texte imprimé Auteurs : Leann SMITH DAWALT, Auteur ; Emily HICKEY, Auteur ; Rebekah HUDOCK, Auteur ; Amy ESLER, Auteur ; Marsha MAILICK, Auteur Langues : Anglais (eng) Mots-clés : Adult  Autism Spectrum Disorder/therapy  Humans  Intellectual Disability  Adulthood  Autism spectrum disorder  Behavior problems  Multi-family group psychoeducation Index. décimale : PER Périodiques Résumé : BACKGROUND: Adults with autism spectrum disorder (ASD) have lower engagement in their communities, higher rates of unemployment/underemployment, and continued difficulties with challenging behavior compared to their neurotypical peers. Multi-family psychoeducation emphasizes education and problem-solving with the goal of improving these outcomes for the individual with the disability. METHODS: Using a randomized waitlist control design, the present study evaluated a multi-family group psychoeducation intervention, Working Together, for adults on the autism spectrum without intellectual disability (n = 40). Five waves of data were collected at 3-month intervals. In this design, families in the intervention condition participated in intervention during the 6 months between baseline and time 3 data collection; the waitlist control condition received the intervention immediately after the time 3 data collection. We compared these two conditions, intervention group (n = 20) vs waitlist control group (n = 20), on key outcomes for the adults with ASD: engagement in work-related activities, engagement in meaningful activities, and behavior problems. RESULTS: Results indicated medium to large effect sizes associated with the Working Together intervention across key outcomes, including adults on the spectrum experiencing significant increases in meaningful activities and decreases in internalizing problems. Although increases in work-related activities were not statistically significant, an observed one-half of a standard deviation difference from before to after the intervention indicated clinically significant change. We also found maintenance of the treatment effect through 6 months post-treatment for the intervention group and replication of the treatment effect within the control group after they received the intervention. CONCLUSION: Working Together is a promising multi-family group psychoeducation intervention designed to improve functioning during adulthood. These findings highlight the need for more intervention services research during adulthood and specifically the need for family-centered supports. En ligne : https://dx.doi.org/10.1186/s11689-021-09395-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Impact of Working Together for adults with autism spectrum disorder: a multifamily group intervention [texte imprimé] / Leann SMITH DAWALT, Auteur ; Emily HICKEY, Auteur ; Rebekah HUDOCK, Auteur ; Amy ESLER, Auteur ; Marsha MAILICK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adult  Autism Spectrum Disorder/therapy  Humans  Intellectual Disability  Adulthood  Autism spectrum disorder  Behavior problems  Multi-family group psychoeducation Index. décimale : PER Périodiques Résumé : BACKGROUND: Adults with autism spectrum disorder (ASD) have lower engagement in their communities, higher rates of unemployment/underemployment, and continued difficulties with challenging behavior compared to their neurotypical peers. Multi-family psychoeducation emphasizes education and problem-solving with the goal of improving these outcomes for the individual with the disability. METHODS: Using a randomized waitlist control design, the present study evaluated a multi-family group psychoeducation intervention, Working Together, for adults on the autism spectrum without intellectual disability (n = 40). Five waves of data were collected at 3-month intervals. In this design, families in the intervention condition participated in intervention during the 6 months between baseline and time 3 data collection; the waitlist control condition received the intervention immediately after the time 3 data collection. We compared these two conditions, intervention group (n = 20) vs waitlist control group (n = 20), on key outcomes for the adults with ASD: engagement in work-related activities, engagement in meaningful activities, and behavior problems. RESULTS: Results indicated medium to large effect sizes associated with the Working Together intervention across key outcomes, including adults on the spectrum experiencing significant increases in meaningful activities and decreases in internalizing problems. Although increases in work-related activities were not statistically significant, an observed one-half of a standard deviation difference from before to after the intervention indicated clinically significant change. We also found maintenance of the treatment effect through 6 months post-treatment for the intervention group and replication of the treatment effect within the control group after they received the intervention. CONCLUSION: Working Together is a promising multi-family group psychoeducation intervention designed to improve functioning during adulthood. These findings highlight the need for more intervention services research during adulthood and specifically the need for family-centered supports. En ligne : https://dx.doi.org/10.1186/s11689-021-09395-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

DINOSAUR: an integrated cognitive-behavioral treatment for anxiety in young children with ASD / Amy KEEFER in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : DINOSAUR: an integrated cognitive-behavioral treatment for anxiety in young children with ASD Type de document : texte imprimé Auteurs : Amy KEEFER, Auteur ; Roma A. VASA, Auteur Langues : Anglais (eng) Mots-clés : Animals  Anxiety/complications/therapy  Anxiety Disorders/complications/therapy  Autism Spectrum Disorder/complications/therapy  Cognition  Cognitive Behavioral Therapy  Dinosaurs  Pilot Projects  Uncertainty  Anxiety  Autism  Treatment  Young child Index. décimale : PER Périodiques Résumé : BACKGROUND: Anxiety disorders are highly prevalent in children and adolescents with autism spectrum disorder and often emerge before the age of 6 years. Yet, only a few studies have examined anxiety treatment for this group. Preliminary evidence from these studies suggests that utilizing cognitive behavioral therapy (CBT) as well as strategies to target intolerance of uncertainty (IU) and parental accommodation, known mechanistic and maintaining factors of anxiety may improve anxiety and optimize outcomes in this age group. MAIN BODY: To meet this need, we developed an integrated treatment called DINO Strategies for Anxiety and intolerance of Uncertainty Reduction (DINOSAUR), a 12-week group telehealth treatment for 4- to 6-year-old children with ASD. DINOSAUR works with young children and their parents to deliver CBT along with interventions targeting IU and parental accommodation. In this paper, we first discuss the rationale for developing this treatment and then describe a pilot study of its feasibility and preliminary efficacy. CONCLUSIONS: There is a great need to develop anxiety treatments for young children with ASD. We proposed a novel integrated treatment approach that aims to alter the way young children and parents respond to fear, which could potentially improve short- and long-term mental health outcomes for this age group. TRIAL REGISTRATION: ClinicalTrials.gov NCT04432077 on June 03, 2020. En ligne : https://dx.doi.org/10.1186/s11689-021-09396-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] DINOSAUR: an integrated cognitive-behavioral treatment for anxiety in young children with ASD [texte imprimé] / Amy KEEFER, Auteur ; Roma A. VASA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Animals  Anxiety/complications/therapy  Anxiety Disorders/complications/therapy  Autism Spectrum Disorder/complications/therapy  Cognition  Cognitive Behavioral Therapy  Dinosaurs  Pilot Projects  Uncertainty  Anxiety  Autism  Treatment  Young child Index. décimale : PER Périodiques Résumé : BACKGROUND: Anxiety disorders are highly prevalent in children and adolescents with autism spectrum disorder and often emerge before the age of 6 years. Yet, only a few studies have examined anxiety treatment for this group. Preliminary evidence from these studies suggests that utilizing cognitive behavioral therapy (CBT) as well as strategies to target intolerance of uncertainty (IU) and parental accommodation, known mechanistic and maintaining factors of anxiety may improve anxiety and optimize outcomes in this age group. MAIN BODY: To meet this need, we developed an integrated treatment called DINO Strategies for Anxiety and intolerance of Uncertainty Reduction (DINOSAUR), a 12-week group telehealth treatment for 4- to 6-year-old children with ASD. DINOSAUR works with young children and their parents to deliver CBT along with interventions targeting IU and parental accommodation. In this paper, we first discuss the rationale for developing this treatment and then describe a pilot study of its feasibility and preliminary efficacy. CONCLUSIONS: There is a great need to develop anxiety treatments for young children with ASD. We proposed a novel integrated treatment approach that aims to alter the way young children and parents respond to fear, which could potentially improve short- and long-term mental health outcomes for this age group. TRIAL REGISTRATION: ClinicalTrials.gov NCT04432077 on June 03, 2020. En ligne : https://dx.doi.org/10.1186/s11689-021-09396-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Increased 2-arachidonoyl-sn-glycerol levels normalize cortical responses to sound and improve behaviors in Fmr1 KO mice / Patricia S. PIRBHOY in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Increased 2-arachidonoyl-sn-glycerol levels normalize cortical responses to sound and improve behaviors in Fmr1 KO mice Type de document : texte imprimé Auteurs : Patricia S. PIRBHOY, Auteur ; Carrie R. JONAK, Auteur ; Rashid SYED, Auteur ; Donovan A. ARGUETA, Auteur ; Pedro A. PEREZ, Auteur ; Mark B. WILEY, Auteur ; Keon HESSAMIAN, Auteur ; Jonathan W. LOVELACE, Auteur ; Khaleel A. RAZAK, Auteur ; Nicholas V. DIPATRIZIO, Auteur ; Iryna M. ETHELL, Auteur ; Devin K. BINDER, Auteur Langues : Anglais (eng) Mots-clés : Animals  Autism Spectrum Disorder  Endocannabinoids  Fragile X Mental Retardation Protein/genetics  Glycerol  Male  Mice  Mice, Knockout  2-Arachidonoyl-sn-glycerol  Auditory hypersensitivity  Cortical hyperexcitability  Electroencephalography  Endocannabinoid modulation  Gamma-band power Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with Fragile X syndrome (FXS) and autism spectrum disorder (ASD) exhibit an array of symptoms, including sociability deficits, increased anxiety, hyperactivity, and sensory hyperexcitability. It is unclear how endocannabinoid (eCB) modulation can be targeted to alleviate neurophysiological abnormalities in FXS as behavioral research reveals benefits to inhibiting cannabinoid (CB) receptor activation and increasing endocannabinoid ligand levels. Here, we hypothesize that enhancement of 2-arachidonoyl-sn-glycerol (2-AG) in Fragile X mental retardation 1 gene knock-out (Fmr1 KO) mice may reduce cortical hyperexcitability and behavioral abnormalities observed in FXS. METHODS: To test whether an increase in 2-AG levels normalized cortical responses in a mouse model of FXS, animals were subjected to electroencephalography (EEG) recording and behavioral assessment following treatment with JZL-184, an irreversible inhibitor of monoacylglycerol lipase (MAGL). Assessment of 2-AG was performed using lipidomic analysis in conjunction with various doses and time points post-administration of JZL-184. Baseline electrocortical activity and evoked responses to sound stimuli were measured using a 30-channel multielectrode array (MEA) in adult male mice before, 4 h, and 1 day post-intraperitoneal injection of JZL-184 or vehicle. Behavior assessment was done using the open field and elevated plus maze 4 h post-treatment. RESULTS: Lipidomic analysis showed that 8 mg/kg JZL-184 significantly increased the levels of 2-AG in the auditory cortex of both Fmr1 KO and WT mice 4 h post-treatment compared to vehicle controls. EEG recordings revealed a reduction in the abnormally enhanced baseline gamma-band power in Fmr1 KO mice and significantly improved evoked synchronization to auditory stimuli in the gamma-band range post-JZL-184 treatment. JZL-184 treatment also ameliorated anxiety-like and hyperactivity phenotypes in Fmr1 KO mice. CONCLUSIONS: Overall, these results indicate that increasing 2-AG levels may serve as a potential therapeutic approach to normalize cortical responses and improve behavioral outcomes in FXS and possibly other ASDs. En ligne : https://dx.doi.org/10.1186/s11689-021-09394-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Increased 2-arachidonoyl-sn-glycerol levels normalize cortical responses to sound and improve behaviors in Fmr1 KO mice [texte imprimé] / Patricia S. PIRBHOY, Auteur ; Carrie R. JONAK, Auteur ; Rashid SYED, Auteur ; Donovan A. ARGUETA, Auteur ; Pedro A. PEREZ, Auteur ; Mark B. WILEY, Auteur ; Keon HESSAMIAN, Auteur ; Jonathan W. LOVELACE, Auteur ; Khaleel A. RAZAK, Auteur ; Nicholas V. DIPATRIZIO, Auteur ; Iryna M. ETHELL, Auteur ; Devin K. BINDER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Animals  Autism Spectrum Disorder  Endocannabinoids  Fragile X Mental Retardation Protein/genetics  Glycerol  Male  Mice  Mice, Knockout  2-Arachidonoyl-sn-glycerol  Auditory hypersensitivity  Cortical hyperexcitability  Electroencephalography  Endocannabinoid modulation  Gamma-band power Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with Fragile X syndrome (FXS) and autism spectrum disorder (ASD) exhibit an array of symptoms, including sociability deficits, increased anxiety, hyperactivity, and sensory hyperexcitability. It is unclear how endocannabinoid (eCB) modulation can be targeted to alleviate neurophysiological abnormalities in FXS as behavioral research reveals benefits to inhibiting cannabinoid (CB) receptor activation and increasing endocannabinoid ligand levels. Here, we hypothesize that enhancement of 2-arachidonoyl-sn-glycerol (2-AG) in Fragile X mental retardation 1 gene knock-out (Fmr1 KO) mice may reduce cortical hyperexcitability and behavioral abnormalities observed in FXS. METHODS: To test whether an increase in 2-AG levels normalized cortical responses in a mouse model of FXS, animals were subjected to electroencephalography (EEG) recording and behavioral assessment following treatment with JZL-184, an irreversible inhibitor of monoacylglycerol lipase (MAGL). Assessment of 2-AG was performed using lipidomic analysis in conjunction with various doses and time points post-administration of JZL-184. Baseline electrocortical activity and evoked responses to sound stimuli were measured using a 30-channel multielectrode array (MEA) in adult male mice before, 4 h, and 1 day post-intraperitoneal injection of JZL-184 or vehicle. Behavior assessment was done using the open field and elevated plus maze 4 h post-treatment. RESULTS: Lipidomic analysis showed that 8 mg/kg JZL-184 significantly increased the levels of 2-AG in the auditory cortex of both Fmr1 KO and WT mice 4 h post-treatment compared to vehicle controls. EEG recordings revealed a reduction in the abnormally enhanced baseline gamma-band power in Fmr1 KO mice and significantly improved evoked synchronization to auditory stimuli in the gamma-band range post-JZL-184 treatment. JZL-184 treatment also ameliorated anxiety-like and hyperactivity phenotypes in Fmr1 KO mice. CONCLUSIONS: Overall, these results indicate that increasing 2-AG levels may serve as a potential therapeutic approach to normalize cortical responses and improve behavioral outcomes in FXS and possibly other ASDs. En ligne : https://dx.doi.org/10.1186/s11689-021-09394-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Comparison of resting-state EEG between adults with Down syndrome and typically developing controls / Sarah HAMBURG in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Comparison of resting-state EEG between adults with Down syndrome and typically developing controls Type de document : texte imprimé Auteurs : Sarah HAMBURG, Auteur ; Daniel BUSH, Auteur ; Andre STRYDOM, Auteur ; Carla M. STARTIN, Auteur Langues : Anglais (eng) Mots-clés : Adult  Cognitive Dysfunction/diagnosis  Down Syndrome/diagnosis  Electroencephalography  Humans  Intellectual Disability/diagnosis  Alpha peak  Down syndrome  Eeg  Resting state  Trisomy 21 Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) worldwide. Understanding electrophysiological characteristics associated with DS provides potential mechanistic insights into ID, helping inform biomarkers and targets for intervention. Currently, electrophysiological characteristics associated with DS remain unclear due to methodological differences between studies and inadequate controls for cognitive decline as a potential cofounder. METHODS: Eyes-closed resting-state EEG measures (specifically delta, theta, alpha, and beta absolute and relative powers, and alpha peak amplitude, frequency and frequency variance) in occipital and frontal regions were compared between adults with DS (with no diagnosis of dementia or evidence of cognitive decline) and typically developing (TD) matched controls (n = 25 per group). RESULTS: We report an overall 'slower' EEG spectrum, characterised by higher delta and theta power, and lower alpha and beta power, for both regions in people with DS. Alpha activity in particular showed strong group differences, including lower power, lower peak amplitude and greater peak frequency variance in people with DS. CONCLUSIONS: Such EEG 'slowing' has previously been associated with cognitive decline in both DS and TD populations. These findings indicate the potential existence of a universal EEG signature of cognitive impairment, regardless of origin (neurodevelopmental or neurodegenerative), warranting further exploration. En ligne : https://dx.doi.org/10.1186/s11689-021-09392-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Comparison of resting-state EEG between adults with Down syndrome and typically developing controls [texte imprimé] / Sarah HAMBURG, Auteur ; Daniel BUSH, Auteur ; Andre STRYDOM, Auteur ; Carla M. STARTIN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adult  Cognitive Dysfunction/diagnosis  Down Syndrome/diagnosis  Electroencephalography  Humans  Intellectual Disability/diagnosis  Alpha peak  Down syndrome  Eeg  Resting state  Trisomy 21 Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) worldwide. Understanding electrophysiological characteristics associated with DS provides potential mechanistic insights into ID, helping inform biomarkers and targets for intervention. Currently, electrophysiological characteristics associated with DS remain unclear due to methodological differences between studies and inadequate controls for cognitive decline as a potential cofounder. METHODS: Eyes-closed resting-state EEG measures (specifically delta, theta, alpha, and beta absolute and relative powers, and alpha peak amplitude, frequency and frequency variance) in occipital and frontal regions were compared between adults with DS (with no diagnosis of dementia or evidence of cognitive decline) and typically developing (TD) matched controls (n = 25 per group). RESULTS: We report an overall 'slower' EEG spectrum, characterised by higher delta and theta power, and lower alpha and beta power, for both regions in people with DS. Alpha activity in particular showed strong group differences, including lower power, lower peak amplitude and greater peak frequency variance in people with DS. CONCLUSIONS: Such EEG 'slowing' has previously been associated with cognitive decline in both DS and TD populations. These findings indicate the potential existence of a universal EEG signature of cognitive impairment, regardless of origin (neurodevelopmental or neurodegenerative), warranting further exploration. En ligne : https://dx.doi.org/10.1186/s11689-021-09392-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Pre-symptomatic intervention for autism spectrum disorder (ASD): defining a research agenda / Rebecca GRZADZINSKI in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Pre-symptomatic intervention for autism spectrum disorder (ASD): defining a research agenda Type de document : texte imprimé Auteurs : Rebecca GRZADZINSKI, Auteur ; Dima AMSO, Auteur ; Rebecca LANDA, Auteur ; Linda WATSON, Auteur ; Michael GURALNICK, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Gedeon DEÁK, Auteur ; Annette ESTES, Auteur ; Jessica BRIAN, Auteur ; Kevin BATH, Auteur ; Jed ELISON, Auteur ; Leonard ABBEDUTO, Auteur ; Jason WOLFF, Auteur ; Joseph PIVEN, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/therapy  Behavior Therapy  Humans  Infant  Social Behavior Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) impacts an individual's ability to socialize, communicate, and interact with, and adapt to, the environment. Over the last two decades, research has focused on early identification of ASD with significant progress being made in understanding the early behavioral and biological markers that precede a diagnosis, providing a catalyst for pre-symptomatic identification and intervention. Evidence from preclinical trials suggest that intervention prior to the onset of ASD symptoms may yield more improved developmental outcomes, and clinical studies suggest that the earlier intervention is administered, the better the outcomes. This article brings together a multidisciplinary group of experts to develop a conceptual framework for behavioral intervention, during the pre-symptomatic period prior to the consolidation of symptoms into diagnosis, in infants at very-high-likelihood for developing ASD (VHL-ASD). The overarching goals of this paper are to promote the development of new intervention approaches, empirical research, and policy efforts aimed at VHL-ASD infants during the pre-symptomatic period (i.e., prior to the consolidation of the defining features of ASD). En ligne : https://dx.doi.org/10.1186/s11689-021-09393-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Pre-symptomatic intervention for autism spectrum disorder (ASD): defining a research agenda [texte imprimé] / Rebecca GRZADZINSKI, Auteur ; Dima AMSO, Auteur ; Rebecca LANDA, Auteur ; Linda WATSON, Auteur ; Michael GURALNICK, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Gedeon DEÁK, Auteur ; Annette ESTES, Auteur ; Jessica BRIAN, Auteur ; Kevin BATH, Auteur ; Jed ELISON, Auteur ; Leonard ABBEDUTO, Auteur ; Jason WOLFF, Auteur ; Joseph PIVEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/diagnosis/therapy  Behavior Therapy  Humans  Infant  Social Behavior Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) impacts an individual's ability to socialize, communicate, and interact with, and adapt to, the environment. Over the last two decades, research has focused on early identification of ASD with significant progress being made in understanding the early behavioral and biological markers that precede a diagnosis, providing a catalyst for pre-symptomatic identification and intervention. Evidence from preclinical trials suggest that intervention prior to the onset of ASD symptoms may yield more improved developmental outcomes, and clinical studies suggest that the earlier intervention is administered, the better the outcomes. This article brings together a multidisciplinary group of experts to develop a conceptual framework for behavioral intervention, during the pre-symptomatic period prior to the consolidation of symptoms into diagnosis, in infants at very-high-likelihood for developing ASD (VHL-ASD). The overarching goals of this paper are to promote the development of new intervention approaches, empirical research, and policy efforts aimed at VHL-ASD infants during the pre-symptomatic period (i.e., prior to the consolidation of the defining features of ASD). En ligne : https://dx.doi.org/10.1186/s11689-021-09393-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Oxidative stress indices in ASD children in Sub-Sahara Africa / Ishiaq Olayinka OMOTOSHO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Oxidative stress indices in ASD children in Sub-Sahara Africa Type de document : texte imprimé Auteurs : Ishiaq Olayinka OMOTOSHO, Auteur ; Adekunbi Olufunke AKINADE, Auteur ; Ikeoluwa Abiola LAGUNJU, Auteur ; Momoh A. YAKUBU, Auteur Langues : Anglais (eng) Mots-clés : Africa South of the Sahara  Antioxidants  Autism Spectrum Disorder  Child  Humans  Malondialdehyde  Oxidative Stress  Autism spectrum disorder  Essential and toxic metals  Imbalance in oxidant/antioxidant ratio Index. décimale : PER Périodiques Résumé : BACKGROUND: The pathogenesis of autism spectrum disorder (ASD) remains a medical challenge even in the developed world. Although genetics and epigenetic factors have been variously indicted as major causes of the disorder, development of oxidative stress especially in the formative years of children has equally gained prominence as an etiological basis of the disorder. Oxidative stress is characterized by the production of excessive amounts of free radicals, decreased levels of antioxidants with the attendant imbalance in oxidant/antioxidant ratio. This study was designed to determine the levels of essential metals [magnesium (Mg), zinc (Zn), and copper (Cu)] and toxic metal, lead (Pb), and generation of oxidative stress by their abnormal interaction. METHOD: Twenty-five children clinically diagnosed for ASD according to DSM-IV-TR and 25 neuro-typical (NT) children (controls), (aged 5.96 ± 1.40 years and 6.18 ± 2.59 years respectively) were recruited for this study. Essential and toxic metals were analyzed using induction-coupled plasma-mass spectrometry (ICP-MS); oxidative stress markers [malondialdehyde (MDA), total plasma peroxidase (TPP), and total antioxidant capacity (TAC)] were determined using appropriate biochemical methods. Oxidative stress index (OSI) was calculated. RESULTS: The levels of TPP and TAC were significantly reduced while MDA was higher in ASD compared to NT. Although OSI was higher in ASD, the difference was not significant. Pb (lead) concentration was significantly increased while Mg, Zn, and Cu levels were reduced significantly in ASD compared to NT. A significant negative correlation between Mg and OSI (r = - 0.438; p = 0.029) was observed in NT. CONCLUSION: Reduction in Zn and Mg levels with a concurrent increase in Pb in children with ASD in this study may be the basis of inadequate TAC manifesting as increased MDA and reduced TPP levels. The attendant imbalance in oxidant/antioxidant ratio may result in abnormality in neuronal transduction leading to the abnormal cognitive and speech functions characteristic of ASD. En ligne : https://dx.doi.org/10.1186/s11689-021-09379-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Oxidative stress indices in ASD children in Sub-Sahara Africa [texte imprimé] / Ishiaq Olayinka OMOTOSHO, Auteur ; Adekunbi Olufunke AKINADE, Auteur ; Ikeoluwa Abiola LAGUNJU, Auteur ; Momoh A. YAKUBU, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Africa South of the Sahara  Antioxidants  Autism Spectrum Disorder  Child  Humans  Malondialdehyde  Oxidative Stress  Autism spectrum disorder  Essential and toxic metals  Imbalance in oxidant/antioxidant ratio Index. décimale : PER Périodiques Résumé : BACKGROUND: The pathogenesis of autism spectrum disorder (ASD) remains a medical challenge even in the developed world. Although genetics and epigenetic factors have been variously indicted as major causes of the disorder, development of oxidative stress especially in the formative years of children has equally gained prominence as an etiological basis of the disorder. Oxidative stress is characterized by the production of excessive amounts of free radicals, decreased levels of antioxidants with the attendant imbalance in oxidant/antioxidant ratio. This study was designed to determine the levels of essential metals [magnesium (Mg), zinc (Zn), and copper (Cu)] and toxic metal, lead (Pb), and generation of oxidative stress by their abnormal interaction. METHOD: Twenty-five children clinically diagnosed for ASD according to DSM-IV-TR and 25 neuro-typical (NT) children (controls), (aged 5.96 ± 1.40 years and 6.18 ± 2.59 years respectively) were recruited for this study. Essential and toxic metals were analyzed using induction-coupled plasma-mass spectrometry (ICP-MS); oxidative stress markers [malondialdehyde (MDA), total plasma peroxidase (TPP), and total antioxidant capacity (TAC)] were determined using appropriate biochemical methods. Oxidative stress index (OSI) was calculated. RESULTS: The levels of TPP and TAC were significantly reduced while MDA was higher in ASD compared to NT. Although OSI was higher in ASD, the difference was not significant. Pb (lead) concentration was significantly increased while Mg, Zn, and Cu levels were reduced significantly in ASD compared to NT. A significant negative correlation between Mg and OSI (r = - 0.438; p = 0.029) was observed in NT. CONCLUSION: Reduction in Zn and Mg levels with a concurrent increase in Pb in children with ASD in this study may be the basis of inadequate TAC manifesting as increased MDA and reduced TPP levels. The attendant imbalance in oxidant/antioxidant ratio may result in abnormality in neuronal transduction leading to the abnormal cognitive and speech functions characteristic of ASD. En ligne : https://dx.doi.org/10.1186/s11689-021-09379-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study / Hanna BJÖRLIN AVDIC in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study Type de document : texte imprimé Auteurs : Hanna BJÖRLIN AVDIC, Auteur ; Agnieszka BUTWICKA, Auteur ; Anna NORDENSTRÖM, Auteur ; Catarina ALMQVIST, Auteur ; Agneta NORDENSKJÖLD, Auteur ; Hedvig ENGBERG, Auteur ; Louise FRISÉN, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/epidemiology  Female  Humans  Intellectual Disability  Retrospective Studies  Sweden/epidemiology  Turner Syndrome/complications/epidemiology  Adhd  Anxiety  Autism spectrum disorder  Depression  Eating disorders  Intellectual disability  Neurodevelopmental disorder  Psychiatric disorder  Substance misuse  Turner syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Turner syndrome is the result of the partial or complete absence of an X chromosome in phenotypic girls. This can cause an array of medical and developmental difficulties. The intelligence quotient in females with Turner syndrome has previously been described as uneven, but considered within normal range. Although their social, intellectual, and psychiatric profile is described, it is unclear to what extent these females meet the clinical criteria for neurodevelopmental or psychiatric diagnoses. The aim of this study was to examine the prevalence of neurodevelopmental and psychiatric disorders in females with Turner syndrome. METHODS: A retrospective cohort study was performed with a total of 1392 females with Turner syndrome identified through the Swedish National Patient Register and compared with 1:100 age- and sex-matched controls from the general population. The associations between Turner syndrome and diagnoses of neurodevelopmental and/or psychiatric disorders were calculated using conditional logistic regression and is presented as estimated risk (odds ratio, OR, 95% confidence interval, CI) in females with Turner syndrome compared with matched controls. RESULTS: Females with Turner syndrome had a higher risk of neurodevelopmental or psychiatric disorder (OR 1.37, 95% CI 1.20-1.57), an eightfold increased risk of intellectual disability (OR 8.59, 95% CI 6.58-11.20), and a fourfold increased risk of autism spectrum disorder (OR 4.26, 95% CI 2.94‑6.18) compared with the controls. In addition, females with Turner syndrome had twice the risk of a diagnosis of schizophrenia and related disorders (OR 1.98, 95% CI 1.36-2.88), eating disorders (OR 2.03, 95% CI 1.42-2.91), and behavioral and emotional disorders with onset in childhood (OR 2.01, 95% CI 1.35-2.99). CONCLUSIONS: Females with Turner syndrome have an increased risk of receiving a diagnosis of neurodevelopmental or psychiatric disorder. This warrants extensive assessment of intellectual and cognitive functions from early age, and increased psychiatric vigilance should be a part of lifelong healthcare for females with Turner syndrome. En ligne : https://dx.doi.org/10.1186/s11689-021-09399-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study [texte imprimé] / Hanna BJÖRLIN AVDIC, Auteur ; Agnieszka BUTWICKA, Auteur ; Anna NORDENSTRÖM, Auteur ; Catarina ALMQVIST, Auteur ; Agneta NORDENSKJÖLD, Auteur ; Hedvig ENGBERG, Auteur ; Louise FRISÉN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/complications/epidemiology  Female  Humans  Intellectual Disability  Retrospective Studies  Sweden/epidemiology  Turner Syndrome/complications/epidemiology  Adhd  Anxiety  Autism spectrum disorder  Depression  Eating disorders  Intellectual disability  Neurodevelopmental disorder  Psychiatric disorder  Substance misuse  Turner syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Turner syndrome is the result of the partial or complete absence of an X chromosome in phenotypic girls. This can cause an array of medical and developmental difficulties. The intelligence quotient in females with Turner syndrome has previously been described as uneven, but considered within normal range. Although their social, intellectual, and psychiatric profile is described, it is unclear to what extent these females meet the clinical criteria for neurodevelopmental or psychiatric diagnoses. The aim of this study was to examine the prevalence of neurodevelopmental and psychiatric disorders in females with Turner syndrome. METHODS: A retrospective cohort study was performed with a total of 1392 females with Turner syndrome identified through the Swedish National Patient Register and compared with 1:100 age- and sex-matched controls from the general population. The associations between Turner syndrome and diagnoses of neurodevelopmental and/or psychiatric disorders were calculated using conditional logistic regression and is presented as estimated risk (odds ratio, OR, 95% confidence interval, CI) in females with Turner syndrome compared with matched controls. RESULTS: Females with Turner syndrome had a higher risk of neurodevelopmental or psychiatric disorder (OR 1.37, 95% CI 1.20-1.57), an eightfold increased risk of intellectual disability (OR 8.59, 95% CI 6.58-11.20), and a fourfold increased risk of autism spectrum disorder (OR 4.26, 95% CI 2.94‑6.18) compared with the controls. In addition, females with Turner syndrome had twice the risk of a diagnosis of schizophrenia and related disorders (OR 1.98, 95% CI 1.36-2.88), eating disorders (OR 2.03, 95% CI 1.42-2.91), and behavioral and emotional disorders with onset in childhood (OR 2.01, 95% CI 1.35-2.99). CONCLUSIONS: Females with Turner syndrome have an increased risk of receiving a diagnosis of neurodevelopmental or psychiatric disorder. This warrants extensive assessment of intellectual and cognitive functions from early age, and increased psychiatric vigilance should be a part of lifelong healthcare for females with Turner syndrome. En ligne : https://dx.doi.org/10.1186/s11689-021-09399-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Turner syndrome: language profile of young girls at 12 and 24 months of age / Debra B. REINHARTSEN in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Turner syndrome: language profile of young girls at 12 and 24 months of age Type de document : texte imprimé Auteurs : Debra B. REINHARTSEN, Auteur ; Emil CORNEA, Auteur ; Margaret DERAMUS, Auteur ; Angelia B. WAITT, Auteur ; Rebecca Edmondson PRETZEL, Auteur ; Rebecca C. KNICKMEYER, Auteur ; Marsha L. DAVENPORT, Auteur ; John H. GILMORE, Auteur ; Stephen R. HOOPER, Auteur Langues : Anglais (eng) Mots-clés : Child, Preschool  Cognition  Female  Humans  Infant  Language Development  Language Development Disorders/epidemiology  Speech  Turner Syndrome/complications  Expressive language  Infants  Neurodevelopmental disorders  Receptive language  Social language  Symbolic language  Toddlers  Turner syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age years, girls with TS often require speech and language services; however, little is known about the language development of infants and toddlers. METHOD: This study (N = 31) explored the language profiles of 12- and 24-month-old girls with TS, as well as the percentage of girls who might be "at risk" for language delays. We also followed a subset of 12-month-old girls with TS to 24 months of age to determine the stability of the 12-month findings. RESULTS: Although all mean scores were within the average range at both time points, results revealed a higher prevalence of 24-month-old girls with TS "at risk" for receptive language difficulties. In addition, expressive language skills significantly exceeded receptive language skills at both time points. We found 12-month-old girls to be "at risk" for social and symbolic difficulties based on clinical assessment; only symbolic difficulties were significant based on caregiver report. At 24 months, clinical assessment indicated greater use of speech sounds and words than normative expectations. Caregivers reported greater use of speech sounds, and also, greater use of gestures. Although some changes occurred over a 1-year time span (12 to 24 months), all mean test scores remained within the average range and the changes in the percentage of girls manifesting "at risk" status on either the PLS-4 or CSBS-DP were non-significant. CONCLUSIONS: Although within normal limits, receptive language skills were found to be significantly lower than expressive language skills at both ages. Social and symbolic communication skills also were in the average range, with both showing significant improvement from 12 to 24 months based on clinical assessment. Caregiver report found that use of gestures and production of speech sounds not only improved from 12 to 24 months, but also exceeded normative expectations. Findings suggest the presence of relatively intact speech and language abilities during the first 2 years of life, with perhaps some emergent concerns for receptive language development. Ongoing developmental surveillance will be important. En ligne : https://dx.doi.org/10.1186/s11689-021-09401-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Turner syndrome: language profile of young girls at 12 and 24 months of age [texte imprimé] / Debra B. REINHARTSEN, Auteur ; Emil CORNEA, Auteur ; Margaret DERAMUS, Auteur ; Angelia B. WAITT, Auteur ; Rebecca Edmondson PRETZEL, Auteur ; Rebecca C. KNICKMEYER, Auteur ; Marsha L. DAVENPORT, Auteur ; John H. GILMORE, Auteur ; Stephen R. HOOPER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Child, Preschool  Cognition  Female  Humans  Infant  Language Development  Language Development Disorders/epidemiology  Speech  Turner Syndrome/complications  Expressive language  Infants  Neurodevelopmental disorders  Receptive language  Social language  Symbolic language  Toddlers  Turner syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age years, girls with TS often require speech and language services; however, little is known about the language development of infants and toddlers. METHOD: This study (N = 31) explored the language profiles of 12- and 24-month-old girls with TS, as well as the percentage of girls who might be "at risk" for language delays. We also followed a subset of 12-month-old girls with TS to 24 months of age to determine the stability of the 12-month findings. RESULTS: Although all mean scores were within the average range at both time points, results revealed a higher prevalence of 24-month-old girls with TS "at risk" for receptive language difficulties. In addition, expressive language skills significantly exceeded receptive language skills at both time points. We found 12-month-old girls to be "at risk" for social and symbolic difficulties based on clinical assessment; only symbolic difficulties were significant based on caregiver report. At 24 months, clinical assessment indicated greater use of speech sounds and words than normative expectations. Caregivers reported greater use of speech sounds, and also, greater use of gestures. Although some changes occurred over a 1-year time span (12 to 24 months), all mean test scores remained within the average range and the changes in the percentage of girls manifesting "at risk" status on either the PLS-4 or CSBS-DP were non-significant. CONCLUSIONS: Although within normal limits, receptive language skills were found to be significantly lower than expressive language skills at both ages. Social and symbolic communication skills also were in the average range, with both showing significant improvement from 12 to 24 months based on clinical assessment. Caregiver report found that use of gestures and production of speech sounds not only improved from 12 to 24 months, but also exceeded normative expectations. Findings suggest the presence of relatively intact speech and language abilities during the first 2 years of life, with perhaps some emergent concerns for receptive language development. Ongoing developmental surveillance will be important. En ligne : https://dx.doi.org/10.1186/s11689-021-09401-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome / Siddharth SRIVASTAVA in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Siddharth SRIVASTAVA, Auteur ; Emma CONDY, Auteur ; Erin CARMODY, Auteur ; Rajna FILIP-DHIMA, Auteur ; Kush KAPUR, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; A Lexander KOLEVZON, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/psychology  Chromosome Deletion  Chromosome Disorders/complications  Chromosomes, Human, Pair 22  Cognition  Female  Humans  Parents  22q13 deletion  Autism  Intellectual disability  Repetitive behavior  Shank3  Stereotypy  client, Fortress Biotech), Novartis, ExpertConnect. KK is currently employed by  Alexion Pharmaceuticals, Inc. but completed this work while at Boston Children’s  Hospital. AK receives research support from AMO Pharma and consults to Ovid  Therapeutics, Acadia, and sema4. EBK has received funding from Seaside  Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan, Fulcrum, GW, Neurotrope,  Marinus, Zynerba, BioMarin, Ovid, Retrophin, AMO, Yamo, Acadia, Avexis, Ionis,  Ultragenyx, Lumos, GeneTx, and Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to  consult on trial design or development strategies and/or conduct clinical trials  in FXS or other NDDs or neurodegenerative disorders, and from Asuragen Inc to  develop testing standards for FMR1 testing. All funding to EBK is directed to  Rush University Medical Center to support rare disease programs. EBK receives no  personal funds. MS reports grant support from Novartis, Roche, Biogen, Astellas,  Aeovian, Bridgebio, Aucta and Quadrant Biosciences. He has served on Scientific  Advisory Boards for Roche, Celgene, Regenxbio, Alkermes, and Takeda. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition. METHODS: Individuals age 3-21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R). RESULTS: There were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluation was 8.88 ± 4.72 years. The mean best estimate IQ of the cohort was 26.08 ± 17.67 (range = 3.4-88), with n = 8 with mild ID (or no ID), n = 20 with moderate ID, and n = 62 with severe-profound ID. The RBS-R total overall score was 16.46 ± 13.9 (compared to 33.14 ± 20.60 reported in previous studies of ASD) (Lam and Aman, 2007), and the total number of items endorsed was 10.40 ± 6.81 (range = 0-29). After statistical correction for multiple comparisons, IQ correlated with the RBS-R stereotypic behavior subscale score (r(s) = - 0.33, unadjusted p = 0.0014, adjusted p = 0.01) and RBS-R stereotypic behavior total number of endorsed items (r(s) = - 0.32, unadjusted p = 0.0019, adjusted p = 0.01). IQ did not correlate with any other RBS-R subscale scores. CONCLUSIONS: The RBS-R total overall score in a PMS cohort appears milder compared to individuals with ASD characterized in previous studies. Stereotypic behavior in PMS may reflect cognitive functioning. En ligne : https://dx.doi.org/10.1186/s11689-021-09398-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome [texte imprimé] / Siddharth SRIVASTAVA, Auteur ; Emma CONDY, Auteur ; Erin CARMODY, Auteur ; Rajna FILIP-DHIMA, Auteur ; Kush KAPUR, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; A Lexander KOLEVZON, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/psychology  Chromosome Deletion  Chromosome Disorders/complications  Chromosomes, Human, Pair 22  Cognition  Female  Humans  Parents  22q13 deletion  Autism  Intellectual disability  Repetitive behavior  Shank3  Stereotypy  client, Fortress Biotech), Novartis, ExpertConnect. KK is currently employed by  Alexion Pharmaceuticals, Inc. but completed this work while at Boston Children’s  Hospital. AK receives research support from AMO Pharma and consults to Ovid  Therapeutics, Acadia, and sema4. EBK has received funding from Seaside  Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan, Fulcrum, GW, Neurotrope,  Marinus, Zynerba, BioMarin, Ovid, Retrophin, AMO, Yamo, Acadia, Avexis, Ionis,  Ultragenyx, Lumos, GeneTx, and Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to  consult on trial design or development strategies and/or conduct clinical trials  in FXS or other NDDs or neurodegenerative disorders, and from Asuragen Inc to  develop testing standards for FMR1 testing. All funding to EBK is directed to  Rush University Medical Center to support rare disease programs. EBK receives no  personal funds. MS reports grant support from Novartis, Roche, Biogen, Astellas,  Aeovian, Bridgebio, Aucta and Quadrant Biosciences. He has served on Scientific  Advisory Boards for Roche, Celgene, Regenxbio, Alkermes, and Takeda. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition. METHODS: Individuals age 3-21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R). RESULTS: There were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluation was 8.88 ± 4.72 years. The mean best estimate IQ of the cohort was 26.08 ± 17.67 (range = 3.4-88), with n = 8 with mild ID (or no ID), n = 20 with moderate ID, and n = 62 with severe-profound ID. The RBS-R total overall score was 16.46 ± 13.9 (compared to 33.14 ± 20.60 reported in previous studies of ASD) (Lam and Aman, 2007), and the total number of items endorsed was 10.40 ± 6.81 (range = 0-29). After statistical correction for multiple comparisons, IQ correlated with the RBS-R stereotypic behavior subscale score (r(s) = - 0.33, unadjusted p = 0.0014, adjusted p = 0.01) and RBS-R stereotypic behavior total number of endorsed items (r(s) = - 0.32, unadjusted p = 0.0019, adjusted p = 0.01). IQ did not correlate with any other RBS-R subscale scores. CONCLUSIONS: The RBS-R total overall score in a PMS cohort appears milder compared to individuals with ASD characterized in previous studies. Stereotypic behavior in PMS may reflect cognitive functioning. En ligne : https://dx.doi.org/10.1186/s11689-021-09398-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants / Ron NUDEL in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants Type de document : texte imprimé Auteurs : Ron NUDEL, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Merete NORDENTOFT, Auteur ; Thomas WERGE, Auteur Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology  Autism Spectrum Disorder/complications/epidemiology/genetics  Autistic Disorder/complications  Humans  Language  Language Development Disorders/complications/epidemiology/genetics  Attention deficit/hyperactivity disorder  Autism spectrum disorder  Exome sequencing  Polygenic risk score  Schizophrenia  Specific language impairment  biomedical financial interests or potential conflicts of interest. TW states that  he has acted as a lecturer and scientific counselor to H. Lundbeck A/S. Index. décimale : PER Périodiques Résumé : BACKGROUND: Language plays a major role in human behavior. For this reason, neurodevelopmental and psychiatric disorders in which linguistic ability is impaired could have a big impact on the individual's social interaction and general wellbeing. Such disorders tend to have a strong genetic component, but most past studies examined mostly the linguistic overlaps across these disorders; investigations into their genetic overlaps are limited. The aim of this study was to assess the potential genetic overlap between language impairment and broader behavioral disorders employing methods capturing both common and rare genetic variants. METHODS: We employ polygenic risk scores (PRS) trained on specific language impairment (SLI) to evaluate genetic overlap across several disorders in a large case-cohort sample comprising ~13,000 autism spectrum disorder (ASD) cases, including cases of childhood autism and Asperger's syndrome, ~15,000 attention deficit/hyperactivity disorder (ADHD) cases, ~3000 schizophrenia cases, and ~21,000 population controls. We also examine rare variants in SLI/language-related genes in a subset of the sample that was exome-sequenced using the SKAT-O method. RESULTS: We find that there is little evidence for genetic overlap between SLI and ADHD, schizophrenia, and ASD, the latter being in line with results of linguistic analyses in past studies. However, we observe a small, significant genetic overlap between SLI and childhood autism specifically, which we do not observe for SLI and Asperger's syndrome. Moreover, we observe that childhood autism cases have significantly higher SLI-trained PRS compared to Asperger's syndrome cases; these results correspond well to the linguistic profiles of both disorders. Our rare variant analyses provide suggestive evidence of association for specific genes with ASD, childhood autism, and schizophrenia. CONCLUSIONS: Our study provides, for the first time, to our knowledge, genetic evidence for ASD subtypes based on risk variants for language impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09403-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants [texte imprimé] / Ron NUDEL, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Merete NORDENTOFT, Auteur ; Thomas WERGE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology  Autism Spectrum Disorder/complications/epidemiology/genetics  Autistic Disorder/complications  Humans  Language  Language Development Disorders/complications/epidemiology/genetics  Attention deficit/hyperactivity disorder  Autism spectrum disorder  Exome sequencing  Polygenic risk score  Schizophrenia  Specific language impairment  biomedical financial interests or potential conflicts of interest. TW states that  he has acted as a lecturer and scientific counselor to H. Lundbeck A/S. Index. décimale : PER Périodiques Résumé : BACKGROUND: Language plays a major role in human behavior. For this reason, neurodevelopmental and psychiatric disorders in which linguistic ability is impaired could have a big impact on the individual's social interaction and general wellbeing. Such disorders tend to have a strong genetic component, but most past studies examined mostly the linguistic overlaps across these disorders; investigations into their genetic overlaps are limited. The aim of this study was to assess the potential genetic overlap between language impairment and broader behavioral disorders employing methods capturing both common and rare genetic variants. METHODS: We employ polygenic risk scores (PRS) trained on specific language impairment (SLI) to evaluate genetic overlap across several disorders in a large case-cohort sample comprising ~13,000 autism spectrum disorder (ASD) cases, including cases of childhood autism and Asperger's syndrome, ~15,000 attention deficit/hyperactivity disorder (ADHD) cases, ~3000 schizophrenia cases, and ~21,000 population controls. We also examine rare variants in SLI/language-related genes in a subset of the sample that was exome-sequenced using the SKAT-O method. RESULTS: We find that there is little evidence for genetic overlap between SLI and ADHD, schizophrenia, and ASD, the latter being in line with results of linguistic analyses in past studies. However, we observe a small, significant genetic overlap between SLI and childhood autism specifically, which we do not observe for SLI and Asperger's syndrome. Moreover, we observe that childhood autism cases have significantly higher SLI-trained PRS compared to Asperger's syndrome cases; these results correspond well to the linguistic profiles of both disorders. Our rare variant analyses provide suggestive evidence of association for specific genes with ASD, childhood autism, and schizophrenia. CONCLUSIONS: Our study provides, for the first time, to our knowledge, genetic evidence for ASD subtypes based on risk variants for language impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09403-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Developing and evaluating treatments for the challenges of autism and related neurodevelopmental disabilities / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Developing and evaluating treatments for the challenges of autism and related neurodevelopmental disabilities Type de document : texte imprimé Auteurs : Leonard ABBEDUTO, Auteur ; Mustafa SAHIN, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/therapy  Autistic Disorder/complications/therapy  Child  Developmental Disabilities/complications  Humans Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-021-09404-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Developing and evaluating treatments for the challenges of autism and related neurodevelopmental disabilities [texte imprimé] / Leonard ABBEDUTO, Auteur ; Mustafa SAHIN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/complications/therapy  Autistic Disorder/complications/therapy  Child  Developmental Disabilities/complications  Humans Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-021-09404-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications / Jan Philipp DELLING in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications Type de document : texte imprimé Auteurs : Jan Philipp DELLING, Auteur ; Tobias M. BOECKERS, Auteur Langues : Anglais (eng) Mots-clés : Animals  Autism Spectrum Disorder/genetics/therapy  Chromosome Deletion  Chromosome Disorders  Humans  Mice  Microfilament Proteins/genetics  Nerve Tissue Proteins/genetics/metabolism  Phenotype  Rats  asd  Autism spectrum disorder  pmds  Phelan-McDermid syndrome  shank3  Therapy Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include deficits in social communication and interaction, as well as restricted, repetitive patterns of behavior, interests, or activities. Many genes have been identified that are associated with an increased risk for ASD. Proteins encoded by these ASD risk genes are often involved in processes related to fetal brain development, chromatin modification and regulation of gene expression in general, as well as the structural and functional integrity of synapses. Genes of the SH3 and multiple ankyrin repeat domains (SHANK) family encode crucial scaffolding proteins (SHANK1-3) of excitatory synapses and other macromolecular complexes. SHANK gene mutations are highly associated with ASD and more specifically the Phelan-McDermid syndrome (PMDS), which is caused by heterozygous 22q13.3-deletion resulting in SHANK3-haploinsufficiency, or by SHANK3 missense variants. SHANK3 deficiency and potential treatment options have been extensively studied in animal models, especially in mice, but also in rats and non-human primates. However, few of the proposed therapeutic strategies have translated into clinical practice yet. MAIN TEXT: This review summarizes the literature concerning SHANK3-deficient animal models. In particular, the structural, behavioral, and neurological abnormalities are described and compared, providing a broad and comprehensive overview. Additionally, the underlying pathophysiologies and possible treatments that have been investigated in these models are discussed and evaluated with respect to their effect on ASD- or PMDS-associated phenotypes. CONCLUSIONS: Animal models of SHANK3 deficiency generated by various genetic strategies, which determine the composition of the residual SHANK3-isoforms and affected cell types, show phenotypes resembling ASD and PMDS. The phenotypic heterogeneity across multiple models and studies resembles the variation of clinical severity in human ASD and PMDS patients. Multiple therapeutic strategies have been proposed and tested in animal models, which might lead to translational implications for human patients with ASD and/or PMDS. Future studies should explore the effects of new therapeutic approaches that target genetic haploinsufficiency, like CRISPR-mediated activation of promotors. En ligne : https://dx.doi.org/10.1186/s11689-021-09397-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications [texte imprimé] / Jan Philipp DELLING, Auteur ; Tobias M. BOECKERS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Animals  Autism Spectrum Disorder/genetics/therapy  Chromosome Deletion  Chromosome Disorders  Humans  Mice  Microfilament Proteins/genetics  Nerve Tissue Proteins/genetics/metabolism  Phenotype  Rats  asd  Autism spectrum disorder  pmds  Phelan-McDermid syndrome  shank3  Therapy Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include deficits in social communication and interaction, as well as restricted, repetitive patterns of behavior, interests, or activities. Many genes have been identified that are associated with an increased risk for ASD. Proteins encoded by these ASD risk genes are often involved in processes related to fetal brain development, chromatin modification and regulation of gene expression in general, as well as the structural and functional integrity of synapses. Genes of the SH3 and multiple ankyrin repeat domains (SHANK) family encode crucial scaffolding proteins (SHANK1-3) of excitatory synapses and other macromolecular complexes. SHANK gene mutations are highly associated with ASD and more specifically the Phelan-McDermid syndrome (PMDS), which is caused by heterozygous 22q13.3-deletion resulting in SHANK3-haploinsufficiency, or by SHANK3 missense variants. SHANK3 deficiency and potential treatment options have been extensively studied in animal models, especially in mice, but also in rats and non-human primates. However, few of the proposed therapeutic strategies have translated into clinical practice yet. MAIN TEXT: This review summarizes the literature concerning SHANK3-deficient animal models. In particular, the structural, behavioral, and neurological abnormalities are described and compared, providing a broad and comprehensive overview. Additionally, the underlying pathophysiologies and possible treatments that have been investigated in these models are discussed and evaluated with respect to their effect on ASD- or PMDS-associated phenotypes. CONCLUSIONS: Animal models of SHANK3 deficiency generated by various genetic strategies, which determine the composition of the residual SHANK3-isoforms and affected cell types, show phenotypes resembling ASD and PMDS. The phenotypic heterogeneity across multiple models and studies resembles the variation of clinical severity in human ASD and PMDS patients. Multiple therapeutic strategies have been proposed and tested in animal models, which might lead to translational implications for human patients with ASD and/or PMDS. Future studies should explore the effects of new therapeutic approaches that target genetic haploinsufficiency, like CRISPR-mediated activation of promotors. En ligne : https://dx.doi.org/10.1186/s11689-021-09397-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Prediction of autism spectrum disorder diagnosis using nonlinear measures of language-related EEG at 6 and 12 months / Fleming C. PECK in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Prediction of autism spectrum disorder diagnosis using nonlinear measures of language-related EEG at 6 and 12 months Type de document : texte imprimé Auteurs : Fleming C. PECK, Auteur ; Laurel J. GABARD-DURNAM, Auteur ; Carol L. WILKINSON, Auteur ; William BOSL, Auteur ; Helen TAGER-FLUSBERG, Auteur ; Charles A. NELSON, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Electroencephalography/methods  Humans  Infant  Language  Machine Learning  Autism  Eeg  Language development  Sensitive period Index. décimale : PER Périodiques Résumé : BACKGROUND: Early identification of autism spectrum disorder (ASD) provides an opportunity for early intervention and improved developmental outcomes. The use of electroencephalography (EEG) in infancy has shown promise in predicting later ASD diagnoses and in identifying neural mechanisms underlying the disorder. Given the high co-morbidity with language impairment, we and others have speculated that infants who are later diagnosed with ASD have altered language learning, including phoneme discrimination. Phoneme learning occurs rapidly in infancy, so altered neural substrates during the first year of life may serve as early, accurate indicators of later autism diagnosis. METHODS: Using EEG data collected at two different ages during a passive phoneme task in infants with high familial risk for ASD, we compared the predictive accuracy of a combination of feature selection and machine learning models at 6 months (during native phoneme learning) and 12 months (after native phoneme learning), and we identified a single model with strong predictive accuracy (100%) for both ages. Samples at both ages were matched in size and diagnoses (n = 14 with later ASD; n = 40 without ASD). Features included a combination of power and nonlinear measures across the 10‑20 montage electrodes and 6 frequency bands. Predictive features at each age were compared both by feature characteristics and EEG scalp location. Additional prediction analyses were performed on all EEGs collected at 12 months; this larger sample included 67 HR infants (27 HR-ASD, 40 HR-noASD). RESULTS: Using a combination of Pearson correlation feature selection and support vector machine classifier, 100% predictive diagnostic accuracy was observed at both 6 and 12 months. Predictive features differed between the models trained on 6- versus 12-month data. At 6 months, predictive features were biased to measures from central electrodes, power measures, and frequencies in the alpha range. At 12 months, predictive features were more distributed between power and nonlinear measures, and biased toward frequencies in the beta range. However, diagnosis prediction accuracy substantially decreased in the larger, more behaviorally heterogeneous 12-month sample. CONCLUSIONS: These results demonstrate that speech processing EEG measures can facilitate earlier identification of ASD but emphasize the need for age-specific predictive models with large sample sizes to develop clinically relevant classification algorithms. En ligne : https://dx.doi.org/10.1186/s11689-021-09405-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Prediction of autism spectrum disorder diagnosis using nonlinear measures of language-related EEG at 6 and 12 months [texte imprimé] / Fleming C. PECK, Auteur ; Laurel J. GABARD-DURNAM, Auteur ; Carol L. WILKINSON, Auteur ; William BOSL, Auteur ; Helen TAGER-FLUSBERG, Auteur ; Charles A. NELSON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Electroencephalography/methods  Humans  Infant  Language  Machine Learning  Autism  Eeg  Language development  Sensitive period Index. décimale : PER Périodiques Résumé : BACKGROUND: Early identification of autism spectrum disorder (ASD) provides an opportunity for early intervention and improved developmental outcomes. The use of electroencephalography (EEG) in infancy has shown promise in predicting later ASD diagnoses and in identifying neural mechanisms underlying the disorder. Given the high co-morbidity with language impairment, we and others have speculated that infants who are later diagnosed with ASD have altered language learning, including phoneme discrimination. Phoneme learning occurs rapidly in infancy, so altered neural substrates during the first year of life may serve as early, accurate indicators of later autism diagnosis. METHODS: Using EEG data collected at two different ages during a passive phoneme task in infants with high familial risk for ASD, we compared the predictive accuracy of a combination of feature selection and machine learning models at 6 months (during native phoneme learning) and 12 months (after native phoneme learning), and we identified a single model with strong predictive accuracy (100%) for both ages. Samples at both ages were matched in size and diagnoses (n = 14 with later ASD; n = 40 without ASD). Features included a combination of power and nonlinear measures across the 10‑20 montage electrodes and 6 frequency bands. Predictive features at each age were compared both by feature characteristics and EEG scalp location. Additional prediction analyses were performed on all EEGs collected at 12 months; this larger sample included 67 HR infants (27 HR-ASD, 40 HR-noASD). RESULTS: Using a combination of Pearson correlation feature selection and support vector machine classifier, 100% predictive diagnostic accuracy was observed at both 6 and 12 months. Predictive features differed between the models trained on 6- versus 12-month data. At 6 months, predictive features were biased to measures from central electrodes, power measures, and frequencies in the alpha range. At 12 months, predictive features were more distributed between power and nonlinear measures, and biased toward frequencies in the beta range. However, diagnosis prediction accuracy substantially decreased in the larger, more behaviorally heterogeneous 12-month sample. CONCLUSIONS: These results demonstrate that speech processing EEG measures can facilitate earlier identification of ASD but emphasize the need for age-specific predictive models with large sample sizes to develop clinically relevant classification algorithms. En ligne : https://dx.doi.org/10.1186/s11689-021-09405-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study / Sylvia B. GUILLORY in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study Type de document : texte imprimé Auteurs : Sylvia B. GUILLORY, Auteur ; Victoria Z. BASKETT, Auteur ; Hannah E. GROSMAN, Auteur ; Christopher S. MCLAUGHLIN, Auteur ; Emily L. ISENSTEIN, Auteur ; Emma WILKINSON, Auteur ; Jordana WEISSMAN, Auteur ; Bari BRITVAN, Auteur ; M. Pilar TRELLES, Auteur ; Danielle B. HALPERN, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur ; A. Ting WANG, Auteur ; Alexander KOLEVZON, Auteur ; Jennifer H. FOSS-FEIG, Auteur Langues : Anglais (eng) Mots-clés : Attention  Autism Spectrum Disorder/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics  Chromosomes, Human, Pair 22  Eye-Tracking Technology  Humans  Autism spectrum disorder  Eye tracking  Phelan-McDermid syndrome  Recognition memory  Social processing  Visual attention  Therapeutics, and sema4. All other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Social deficits represent a core feature of ASD, including decreased propensity to orient to or show preference for social stimuli. METHODS: We used a visual paired-comparison task with both social and non-social images, assessing looking behavior to a novel image versus a previously viewed familiar image to characterize social attention and recognition memory in PMS (n = 22), idiopathic ASD (iASD, n = 38), and typically developing (TD) controls (n = 26). The idiopathic ASD cohort was divided into subgroups with intellectual disabilities (ID; developmental quotient < 70) and without (developmental quotient > 70) and the PMS group into those with and without a co-morbid ASD diagnosis. RESULTS: On measures of attention, the PMS group with a comorbid ASD diagnosis spent less time viewing the social images compared to non-social images; the rate of looking back and forth between images was lowest in the iASD with ID group. Furthermore, while all groups demonstrated intact recognition memory when novel non-social stimuli were initially presented (pre-switch), participants with PMS showed no preference during the post-switch memory presentation. In iASD, the group without ID, but not the group with ID, showed a novelty preference for social stimuli. Across indices, individuals with PMS and ASD performed more similarly to PMS without ASD and less similarly to the iASD group. CONCLUSION: These findings demonstrate further evidence of differences in attention and memory for social stimuli in ASD and provide contrasts between iASD and PMS. En ligne : https://dx.doi.org/10.1186/s11689-021-09400-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study [texte imprimé] / Sylvia B. GUILLORY, Auteur ; Victoria Z. BASKETT, Auteur ; Hannah E. GROSMAN, Auteur ; Christopher S. MCLAUGHLIN, Auteur ; Emily L. ISENSTEIN, Auteur ; Emma WILKINSON, Auteur ; Jordana WEISSMAN, Auteur ; Bari BRITVAN, Auteur ; M. Pilar TRELLES, Auteur ; Danielle B. HALPERN, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur ; A. Ting WANG, Auteur ; Alexander KOLEVZON, Auteur ; Jennifer H. FOSS-FEIG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Attention  Autism Spectrum Disorder/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics  Chromosomes, Human, Pair 22  Eye-Tracking Technology  Humans  Autism spectrum disorder  Eye tracking  Phelan-McDermid syndrome  Recognition memory  Social processing  Visual attention  Therapeutics, and sema4. All other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Social deficits represent a core feature of ASD, including decreased propensity to orient to or show preference for social stimuli. METHODS: We used a visual paired-comparison task with both social and non-social images, assessing looking behavior to a novel image versus a previously viewed familiar image to characterize social attention and recognition memory in PMS (n = 22), idiopathic ASD (iASD, n = 38), and typically developing (TD) controls (n = 26). The idiopathic ASD cohort was divided into subgroups with intellectual disabilities (ID; developmental quotient < 70) and without (developmental quotient > 70) and the PMS group into those with and without a co-morbid ASD diagnosis. RESULTS: On measures of attention, the PMS group with a comorbid ASD diagnosis spent less time viewing the social images compared to non-social images; the rate of looking back and forth between images was lowest in the iASD with ID group. Furthermore, while all groups demonstrated intact recognition memory when novel non-social stimuli were initially presented (pre-switch), participants with PMS showed no preference during the post-switch memory presentation. In iASD, the group without ID, but not the group with ID, showed a novelty preference for social stimuli. Across indices, individuals with PMS and ASD performed more similarly to PMS without ASD and less similarly to the iASD group. CONCLUSION: These findings demonstrate further evidence of differences in attention and memory for social stimuli in ASD and provide contrasts between iASD and PMS. En ligne : https://dx.doi.org/10.1186/s11689-021-09400-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice / María ABELLÁN-ÁLVARO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice Type de document : texte imprimé Auteurs : María ABELLÁN-ÁLVARO, Auteur ; Oliver STORK, Auteur ; Carmen AGUSTÍN-PAVÓN, Auteur ; Mónica SANTOS, Auteur Langues : Anglais (eng) Mots-clés : Adverse Childhood Experiences  Animals  Anxiety/etiology  Female  Humans  Hypothalamo-Hypophyseal System/metabolism  Maternal Deprivation  Methyl-CpG-Binding Protein 2/genetics/metabolism  Mice  Pituitary-Adrenal System/metabolism  Arginine-vasopressin  Corticotropin-releasing hormone  Maternal separation  Rett syndrome  c-FOS Index. décimale : PER Périodiques Résumé : BACKGROUND: Early-life stress can leave persistent epigenetic marks that may modulate vulnerability to psychiatric conditions later in life, including anxiety, depression and stress-related disorders. These are complex disorders with both environmental and genetic influences contributing to their etiology. Methyl-CpG Binding Protein 2 (MeCP2) has been attributed a key role in the control of neuronal activity-dependent gene expression and is a master regulator of experience-dependent epigenetic programming. Moreover, mutations in the MECP2 gene are the primary cause of Rett syndrome and, to a lesser extent, of a range of other major neurodevelopmental disorders. Here, we aim to study the interaction of MeCP2 with early-life stress in variables known to be affected by this environmental manipulation, namely anxiety-like behavior and activity of the underlying neural circuits. METHODS: Using Mecp2 heterozygous and wild-type female mice we investigated the effects of the interaction of Mecp2 haplodeficiency with maternal separation later in life, by assessing anxiety-related behaviors and measuring concomitant c-FOS expression in stress- and anxiety-related brain regions of adolescent females. Moreover, arginine vasopressin and corticotropin-releasing hormone neurons of the paraventricular hypothalamic nucleus were analyzed for neuronal activation. RESULTS: In wild-type mice, maternal separation caused a reduction in anxiety-like behavior and in the activation of the hypothalamic paraventricular nucleus, specifically in corticotropin-releasing hormone-positive cells, after the elevated plus maze. This effect of maternal separation was not observed in Mecp2 heterozygous females that per se show decreased anxiety-like behavior and concomitant decreased paraventricular nuclei activation. CONCLUSIONS: Our data supports that MeCP2 is an essential component of HPA axis reprogramming and underlies the differential response to anxiogenic situations later in life. En ligne : https://dx.doi.org/10.1186/s11689-021-09409-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice [texte imprimé] / María ABELLÁN-ÁLVARO, Auteur ; Oliver STORK, Auteur ; Carmen AGUSTÍN-PAVÓN, Auteur ; Mónica SANTOS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adverse Childhood Experiences  Animals  Anxiety/etiology  Female  Humans  Hypothalamo-Hypophyseal System/metabolism  Maternal Deprivation  Methyl-CpG-Binding Protein 2/genetics/metabolism  Mice  Pituitary-Adrenal System/metabolism  Arginine-vasopressin  Corticotropin-releasing hormone  Maternal separation  Rett syndrome  c-FOS Index. décimale : PER Périodiques Résumé : BACKGROUND: Early-life stress can leave persistent epigenetic marks that may modulate vulnerability to psychiatric conditions later in life, including anxiety, depression and stress-related disorders. These are complex disorders with both environmental and genetic influences contributing to their etiology. Methyl-CpG Binding Protein 2 (MeCP2) has been attributed a key role in the control of neuronal activity-dependent gene expression and is a master regulator of experience-dependent epigenetic programming. Moreover, mutations in the MECP2 gene are the primary cause of Rett syndrome and, to a lesser extent, of a range of other major neurodevelopmental disorders. Here, we aim to study the interaction of MeCP2 with early-life stress in variables known to be affected by this environmental manipulation, namely anxiety-like behavior and activity of the underlying neural circuits. METHODS: Using Mecp2 heterozygous and wild-type female mice we investigated the effects of the interaction of Mecp2 haplodeficiency with maternal separation later in life, by assessing anxiety-related behaviors and measuring concomitant c-FOS expression in stress- and anxiety-related brain regions of adolescent females. Moreover, arginine vasopressin and corticotropin-releasing hormone neurons of the paraventricular hypothalamic nucleus were analyzed for neuronal activation. RESULTS: In wild-type mice, maternal separation caused a reduction in anxiety-like behavior and in the activation of the hypothalamic paraventricular nucleus, specifically in corticotropin-releasing hormone-positive cells, after the elevated plus maze. This effect of maternal separation was not observed in Mecp2 heterozygous females that per se show decreased anxiety-like behavior and concomitant decreased paraventricular nuclei activation. CONCLUSIONS: Our data supports that MeCP2 is an essential component of HPA axis reprogramming and underlies the differential response to anxiogenic situations later in life. En ligne : https://dx.doi.org/10.1186/s11689-021-09409-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) / Samuel ALPERIN in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) Type de document : texte imprimé Auteurs : Samuel ALPERIN, Auteur ; Darcy A. KRUEGER, Auteur ; David N. FRANZ, Auteur ; Karen D. AGRICOLA, Auteur ; Gabrielle STIRES, Auteur ; Paul S. HORN, Auteur ; Jamie K. CAPAL, Auteur Langues : Anglais (eng) Mots-clés : Adult  Checklist  Child  Cluster Analysis  Cohort Studies  Humans  Mental Disorders/complications/epidemiology  Tuberous Sclerosis/complications/psychology  Intellectual disability  TSC-associated neuropsychiatric disorders (TAND)  Tuberous sclerosis complex  disclosures. Darcy Krueger reports consulting fees and/or research support from  Novartis Pharmaceuticals, TS Alliance, Druggability Technologies, Greenwich  Biosciences, and Marinus Pharmaceuticals. Dr. Krueger also has received speaking  fees from Novartis Pharmaceuticals and Greenwich Biosciences. David N. Franz  reports travel support and honoraria from Novartis (more than 2 years ago). His  employer has also received support for clinical trials and consulting work from  Novartis (more than 2 years ago). Jamie K. Capal receives research support from  Roche. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous Sclerosis Complex (TSC) is associated with a range of neuropsychiatric difficulties, appropriately termed TSC-Associated Neuropsychiatric Disorders (TAND). The objectives of the study were to analyze the rates of TAND symptoms in a cohort of patients seen at the TSC Center of Excellence at Cincinnati Children's Hospital and to identify clinically meaningful profiles based on TAND symptoms. METHODS: Data from the TAND Checklist was obtained from participants seen at the TSC Center of Excellence at Cincinnati Children's Hospital Medical Center from June 2015 to August 2018. Cluster and factor analyses for each TAND symptom were performed. Factor scores were then calculated for participants, and a K-means cluster analysis of these scores was used to empirically identify distinct overall TAND symptom profiles occurring in TSC. RESULTS: A total of 1545 checklists was completed for 668 participants (37% adults and 63% children). Approximately 90% of participants reported at least one TAND symptom with an average of 12 symptoms (out of 29). Symptom rates ranged between 5 and 60%. The most common symptoms were neuropsychologic symptoms. A seven-cluster and seven-factor solution were found to be optimal. K-means cluster analysis resulted in a seven-profile solution, ranging from low to high symptom burden. CONCLUSION: This study is the first to identify natural phenotypic profiles of TAND symptoms. Study of specific TAND subpopulations with shared profiles may facilitate better understanding of the underlying biology of TAND and better assessment of more targeted treatments. En ligne : https://dx.doi.org/10.1186/s11689-021-09408-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) [texte imprimé] / Samuel ALPERIN, Auteur ; Darcy A. KRUEGER, Auteur ; David N. FRANZ, Auteur ; Karen D. AGRICOLA, Auteur ; Gabrielle STIRES, Auteur ; Paul S. HORN, Auteur ; Jamie K. CAPAL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adult  Checklist  Child  Cluster Analysis  Cohort Studies  Humans  Mental Disorders/complications/epidemiology  Tuberous Sclerosis/complications/psychology  Intellectual disability  TSC-associated neuropsychiatric disorders (TAND)  Tuberous sclerosis complex  disclosures. Darcy Krueger reports consulting fees and/or research support from  Novartis Pharmaceuticals, TS Alliance, Druggability Technologies, Greenwich  Biosciences, and Marinus Pharmaceuticals. Dr. Krueger also has received speaking  fees from Novartis Pharmaceuticals and Greenwich Biosciences. David N. Franz  reports travel support and honoraria from Novartis (more than 2 years ago). His  employer has also received support for clinical trials and consulting work from  Novartis (more than 2 years ago). Jamie K. Capal receives research support from  Roche. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous Sclerosis Complex (TSC) is associated with a range of neuropsychiatric difficulties, appropriately termed TSC-Associated Neuropsychiatric Disorders (TAND). The objectives of the study were to analyze the rates of TAND symptoms in a cohort of patients seen at the TSC Center of Excellence at Cincinnati Children's Hospital and to identify clinically meaningful profiles based on TAND symptoms. METHODS: Data from the TAND Checklist was obtained from participants seen at the TSC Center of Excellence at Cincinnati Children's Hospital Medical Center from June 2015 to August 2018. Cluster and factor analyses for each TAND symptom were performed. Factor scores were then calculated for participants, and a K-means cluster analysis of these scores was used to empirically identify distinct overall TAND symptom profiles occurring in TSC. RESULTS: A total of 1545 checklists was completed for 668 participants (37% adults and 63% children). Approximately 90% of participants reported at least one TAND symptom with an average of 12 symptoms (out of 29). Symptom rates ranged between 5 and 60%. The most common symptoms were neuropsychologic symptoms. A seven-cluster and seven-factor solution were found to be optimal. K-means cluster analysis resulted in a seven-profile solution, ranging from low to high symptom burden. CONCLUSION: This study is the first to identify natural phenotypic profiles of TAND symptoms. Study of specific TAND subpopulations with shared profiles may facilitate better understanding of the underlying biology of TAND and better assessment of more targeted treatments. En ligne : https://dx.doi.org/10.1186/s11689-021-09408-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Patterns of psychopathology and cognition in sex chromosome aneuploidy / Srishti RAU in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Patterns of psychopathology and cognition in sex chromosome aneuploidy Type de document : texte imprimé Auteurs : Srishti RAU, Auteur ; Ethan T. WHITMAN, Auteur ; Kimberly SCHAUDER, Auteur ; Nikhita GOGATE, Auteur ; Nancy Raitano LEE, Auteur ; Lauren KENWORTHY, Auteur ; Armin RAZNAHAN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Aneuploidy  Child  Cognition  Humans  Mental Disorders  Sex Chromosome Aberrations  Sex Chromosomes/genetics  Neurogenetic conditions  Psychopathology  Sex chromosome aneuploidy  Sex chromosomes Index. décimale : PER Périodiques Résumé : BACKGROUND: Sex chromosome aneuploidies (SCAs) are a collectively common family of genetic disorders that increase the risk for neuropsychiatric and cognitive impairment. Beyond being important medical disorders in their own right, SCAs also offer a unique naturally occurring model for studying X- and Y-chromosome influences on the human brain. However, it remains unclear if (i) different SCAs are associated with different profiles of psychopathology and (ii) the notable interindividual variation in psychopathology is related to co-occurring variation in cognitive ability. METHODS: We examined scores for 11 dimensions of psychopathology [Child/Adult Behavior Checklist (CBCL)] and general cognitive ability [full-scale IQ (FSIQ) from Wechsler tests] in 110 youth with varying SCAs (XXY = 41, XYY = 22, XXX = 27, XXYY = 20) and 131 typically developing controls (XX = 59, XY = 72). RESULTS: All SCAs were associated with elevated CBCL scores across several dimensions of psychopathology (two-sample t tests comparing the euploidic and aneuploidic groups [all |T| > 9, and p < 0.001]). Social and attentional functioning were particularly sensitive to the carriage of a supernumerary Y-chromosome. In particular, the XYY group evidenced significantly more social problems than both extra-X groups (Cohen's d effect size > 0.5, Bonferroni corrected p < .05). There was marked variability in CBCL scores within each SCA group, which generally correlated negatively with IQ, but most strongly so for social and attentional difficulties (standardized β, - 0.3). These correlations showed subtle differences as a function of the SCA group and CBCL scale. CONCLUSIONS: There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk. En ligne : https://dx.doi.org/10.1186/s11689-021-09407-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Patterns of psychopathology and cognition in sex chromosome aneuploidy [texte imprimé] / Srishti RAU, Auteur ; Ethan T. WHITMAN, Auteur ; Kimberly SCHAUDER, Auteur ; Nikhita GOGATE, Auteur ; Nancy Raitano LEE, Auteur ; Lauren KENWORTHY, Auteur ; Armin RAZNAHAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Aneuploidy  Child  Cognition  Humans  Mental Disorders  Sex Chromosome Aberrations  Sex Chromosomes/genetics  Neurogenetic conditions  Psychopathology  Sex chromosome aneuploidy  Sex chromosomes Index. décimale : PER Périodiques Résumé : BACKGROUND: Sex chromosome aneuploidies (SCAs) are a collectively common family of genetic disorders that increase the risk for neuropsychiatric and cognitive impairment. Beyond being important medical disorders in their own right, SCAs also offer a unique naturally occurring model for studying X- and Y-chromosome influences on the human brain. However, it remains unclear if (i) different SCAs are associated with different profiles of psychopathology and (ii) the notable interindividual variation in psychopathology is related to co-occurring variation in cognitive ability. METHODS: We examined scores for 11 dimensions of psychopathology [Child/Adult Behavior Checklist (CBCL)] and general cognitive ability [full-scale IQ (FSIQ) from Wechsler tests] in 110 youth with varying SCAs (XXY = 41, XYY = 22, XXX = 27, XXYY = 20) and 131 typically developing controls (XX = 59, XY = 72). RESULTS: All SCAs were associated with elevated CBCL scores across several dimensions of psychopathology (two-sample t tests comparing the euploidic and aneuploidic groups [all |T| > 9, and p < 0.001]). Social and attentional functioning were particularly sensitive to the carriage of a supernumerary Y-chromosome. In particular, the XYY group evidenced significantly more social problems than both extra-X groups (Cohen's d effect size > 0.5, Bonferroni corrected p < .05). There was marked variability in CBCL scores within each SCA group, which generally correlated negatively with IQ, but most strongly so for social and attentional difficulties (standardized β, - 0.3). These correlations showed subtle differences as a function of the SCA group and CBCL scale. CONCLUSIONS: There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk. En ligne : https://dx.doi.org/10.1186/s11689-021-09407-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Correction to: The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis / Catherine LAVERTY in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Correction to: The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis Type de document : texte imprimé Auteurs : Catherine LAVERTY, Auteur ; Andrew SURTEES, Auteur ; Rory O'SULLIVAN, Auteur ; Daniel SUTHERLAND, Auteur ; Christopher JONES, Auteur ; Caroline RICHARDS, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-021-09402-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Correction to: The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis [texte imprimé] / Catherine LAVERTY, Auteur ; Andrew SURTEES, Auteur ; Rory O'SULLIVAN, Auteur ; Daniel SUTHERLAND, Auteur ; Christopher JONES, Auteur ; Caroline RICHARDS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-021-09402-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574