Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism / Antonia SAN JOSE CACERES in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism Type de document : texte imprimé Auteurs : Antonia SAN JOSE CACERES, Auteur ; Emma WILKINSON, Auteur ; Jennifer COOKE, Auteur ; Victoria BASKETT, Auteur ; Charlotte BLACKMORE, Auteur ; Daisy Victoria CRAWLEY, Auteur ; Allison DURKIN, Auteur ; Danielle HALPERN, Auteur ; Maria NUNEZ, Auteur ; Page SIPER, Auteur ; Declan G. MURPHY, Auteur ; Jennifer FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Eva LOTH, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Child  Chromosome Deletion  Chromosome Disorders/physiopathology/complications  Autistic Disorder/physiopathology/complications  Chromosomes, Human, Pair 22  Child, Preschool  Adolescent  Social Interaction  Social Behavior  United Kingdom  Auditory social orienting  Idiopathic autism  Pms  Phelan-McDermid syndrome  was approved by the National Research Ethics Service (NRES) Committee London –  Queen Square, under reference 15/LO/0305. All volunteers and their families gave  appropriate consent/assent to participate in the study. In the US, the project  was approved by the Institutional Review Board at the Mount Sinai Hospital. All  participants and their families gave appropriate consent to participate in the  study. Consent for publication NA. Competing interests AK receives research  support from AMO Pharma and consults to Ovid Therapeutics, Acadia, and Alkermes.  ASJC has been a consultant for F. Hoffmann-La Roche Ltd, consults for Servier and  Signant Health, and she has been involved in clinical trials conducted by  Servier. The present work is unrelated to the above grants and relationships. All  other authors have no competing interests to declare (EL, JC, JFF, PS, EW, DH,  AD, DVC, VB, CB, DGM, MN). Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. METHODS: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. RESULTS: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. CONCLUSIONS: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. TRIAL REGISTRATION: NA. En ligne : https://dx.doi.org/10.1186/s11689-024-09564-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism [texte imprimé] / Antonia SAN JOSE CACERES, Auteur ; Emma WILKINSON, Auteur ; Jennifer COOKE, Auteur ; Victoria BASKETT, Auteur ; Charlotte BLACKMORE, Auteur ; Daisy Victoria CRAWLEY, Auteur ; Allison DURKIN, Auteur ; Danielle HALPERN, Auteur ; Maria NUNEZ, Auteur ; Page SIPER, Auteur ; Declan G. MURPHY, Auteur ; Jennifer FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Eva LOTH, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Child  Chromosome Deletion  Chromosome Disorders/physiopathology/complications  Autistic Disorder/physiopathology/complications  Chromosomes, Human, Pair 22  Child, Preschool  Adolescent  Social Interaction  Social Behavior  United Kingdom  Auditory social orienting  Idiopathic autism  Pms  Phelan-McDermid syndrome  was approved by the National Research Ethics Service (NRES) Committee London –  Queen Square, under reference 15/LO/0305. All volunteers and their families gave  appropriate consent/assent to participate in the study. In the US, the project  was approved by the Institutional Review Board at the Mount Sinai Hospital. All  participants and their families gave appropriate consent to participate in the  study. Consent for publication NA. Competing interests AK receives research  support from AMO Pharma and consults to Ovid Therapeutics, Acadia, and Alkermes.  ASJC has been a consultant for F. Hoffmann-La Roche Ltd, consults for Servier and  Signant Health, and she has been involved in clinical trials conducted by  Servier. The present work is unrelated to the above grants and relationships. All  other authors have no competing interests to declare (EL, JC, JFF, PS, EW, DH,  AD, DVC, VB, CB, DGM, MN). Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. METHODS: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. RESULTS: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. CONCLUSIONS: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. TRIAL REGISTRATION: NA. En ligne : https://dx.doi.org/10.1186/s11689-024-09564-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome / Melody Reese SMITH in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Melody Reese SMITH, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Andrew THALIATH, Auteur ; Emily L. ISENSTEIN, Auteur ; Allison R. DURKIN, Auteur ; Jennifer FOSS-FEIG, Auteur ; Paige M. SIPER, Auteur ; Charles A. NELSON, Auteur ; Lauren BACZEWSKI, Auteur ; April R. LEVIN, Auteur ; Craig M. POWELL, Auteur ; Stormi L. PULVER, Auteur ; Matthew W. MOSCONI, Auteur ; Alexander KOLEVZON, Auteur ; Lauren E. ETHRIDGE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  Male  Adolescent  Child  Electroencephalography  Chromosomes, Human, Pair 22/genetics  Chromosome Disorders/physiopathology/genetics  Chromosome Deletion  Phenotype  Evoked Potentials/physiology  Age Factors  Sensory Gating/physiology  Acoustic Stimulation  Brain/physiopathology  Evoked Potentials, Auditory/physiology  Auditory Perception/physiology  Sex Factors Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid Syndrome (PMS) is a rare genetic condition characterized by deletion or mutation of region 22q13.3, which includes the SHANK3 gene. Clinical descriptions of this population include severely impaired or absent expressive language, mildly dysmorphic features, neonatal hypotonia, developmental delays, intellectual impairments, and autistic-like traits including abnormal reactivity to sensory stimuli. Electroencephalography (EEG) has shown promise as a tool for identifying neurophysiological abnormalities in neurodevelopmental disorders. However, few EEG studies focused on sensory processing have been performed on this population. Thus, this study focuses on comparisons of event-related potential (ERP), event-related spectral perturbation (ERSP), and inter-trial coherence (ITC) between PMS and typically developing (TD) individuals in a standard auditory gating task measuring attenuation of neural activity to repetitive auditory stimuli. METHODS: A total of 37 participants, 21 PMS (12 females, age range 8-18.6 years) and 16 TD individuals (8 females, age range 8.2-15.3 years) were included. Analysis consisted of a series of general linear models using a regional (frontal) and global (whole-head) approach to characterize neural activity between PMS and TD participants by age, sex, and group. RESULTS: Most notably, individuals with PMS had delayed or low amplitude P50, N1, and P2 responses in frontal and whole-head analyses as well as poor frontal phase-locking to auditory stimuli for alpha, beta and gamma ITC, indicating impaired processing of stimulus properties. Additionally, individuals with PMS differed from TD by age in delta, theta, and alpha power, as well as frontal beta-gamma ITC, suggesting different developmental trajectories for individuals with PMS. Within PMS, larger deletion sizes were associated with increased auditory processing abnormalities for frontal P50 as well as whole-head P50 and N1. LIMITATIONS: This is one of the largest EEG studies of PMS. However, PMS is a rare genetic condition, and our small sample has limited statistical power for subgroup comparisons. Findings should be considered exploratory. CONCLUSIONS: Results suggest that participants with PMS exhibit auditory processing abnormalities with complex variation by deletion-size, age, and sex with congruency to impaired early recognition (P50), feature processing (N1), information integration (delta, theta), sensory processing and auditory inhibition (alpha), and inhibitory modulation of repeated auditory stimuli (beta, gamma). Findings may provide valuable insight into clinical characterization of sensory and speech behaviors in future studies. En ligne : https://dx.doi.org/10.1186/s11689-025-09642-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome [texte imprimé] / Melody Reese SMITH, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Andrew THALIATH, Auteur ; Emily L. ISENSTEIN, Auteur ; Allison R. DURKIN, Auteur ; Jennifer FOSS-FEIG, Auteur ; Paige M. SIPER, Auteur ; Charles A. NELSON, Auteur ; Lauren BACZEWSKI, Auteur ; April R. LEVIN, Auteur ; Craig M. POWELL, Auteur ; Stormi L. PULVER, Auteur ; Matthew W. MOSCONI, Auteur ; Alexander KOLEVZON, Auteur ; Lauren E. ETHRIDGE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Female  Male  Adolescent  Child  Electroencephalography  Chromosomes, Human, Pair 22/genetics  Chromosome Disorders/physiopathology/genetics  Chromosome Deletion  Phenotype  Evoked Potentials/physiology  Age Factors  Sensory Gating/physiology  Acoustic Stimulation  Brain/physiopathology  Evoked Potentials, Auditory/physiology  Auditory Perception/physiology  Sex Factors Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid Syndrome (PMS) is a rare genetic condition characterized by deletion or mutation of region 22q13.3, which includes the SHANK3 gene. Clinical descriptions of this population include severely impaired or absent expressive language, mildly dysmorphic features, neonatal hypotonia, developmental delays, intellectual impairments, and autistic-like traits including abnormal reactivity to sensory stimuli. Electroencephalography (EEG) has shown promise as a tool for identifying neurophysiological abnormalities in neurodevelopmental disorders. However, few EEG studies focused on sensory processing have been performed on this population. Thus, this study focuses on comparisons of event-related potential (ERP), event-related spectral perturbation (ERSP), and inter-trial coherence (ITC) between PMS and typically developing (TD) individuals in a standard auditory gating task measuring attenuation of neural activity to repetitive auditory stimuli. METHODS: A total of 37 participants, 21 PMS (12 females, age range 8-18.6 years) and 16 TD individuals (8 females, age range 8.2-15.3 years) were included. Analysis consisted of a series of general linear models using a regional (frontal) and global (whole-head) approach to characterize neural activity between PMS and TD participants by age, sex, and group. RESULTS: Most notably, individuals with PMS had delayed or low amplitude P50, N1, and P2 responses in frontal and whole-head analyses as well as poor frontal phase-locking to auditory stimuli for alpha, beta and gamma ITC, indicating impaired processing of stimulus properties. Additionally, individuals with PMS differed from TD by age in delta, theta, and alpha power, as well as frontal beta-gamma ITC, suggesting different developmental trajectories for individuals with PMS. Within PMS, larger deletion sizes were associated with increased auditory processing abnormalities for frontal P50 as well as whole-head P50 and N1. LIMITATIONS: This is one of the largest EEG studies of PMS. However, PMS is a rare genetic condition, and our small sample has limited statistical power for subgroup comparisons. Findings should be considered exploratory. CONCLUSIONS: Results suggest that participants with PMS exhibit auditory processing abnormalities with complex variation by deletion-size, age, and sex with congruency to impaired early recognition (P50), feature processing (N1), information integration (delta, theta), sensory processing and auditory inhibition (alpha), and inhibitory modulation of repeated auditory stimuli (beta, gamma). Findings may provide valuable insight into clinical characterization of sensory and speech behaviors in future studies. En ligne : https://dx.doi.org/10.1186/s11689-025-09642-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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