Dépouillements

Introduction to the Special Section on the Genetics of Autism / Genevieve KONOPKA in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.896-897 Titre : Introduction to the Special Section on the Genetics of Autism Type de document : Texte imprimé et/ou numérique Auteurs : Genevieve KONOPKA, Auteur Article en page(s) : p.896-897 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1002/aur.70064 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Introduction to the Special Section on the Genetics of Autism [Texte imprimé et/ou numérique] / Genevieve KONOPKA, Auteur . - p.896-897. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.896-897 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1002/aur.70064 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder / Megha SANTHOSH ; Emily NEUHAUS ; Catherine A. W. SULLIVAN ; Raphael A. BERNIER ; Susan Y. BOOKHEIMER ; Mirella DAPRETTO ; Daniel H. GESCHWIND ; Allison JACK ; James C. MCPARTLAND ; John D. VAN HORN ; Kevin A. PELPHREY ; Abha R. GUPTA ; Sara Jane WEBB ; A. C. E. Gendaar Network THE in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.898-908 Titre : A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Megha SANTHOSH, Auteur ; Emily NEUHAUS, Auteur ; Catherine A. W. SULLIVAN, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Daniel H. GESCHWIND, Auteur ; Allison JACK, Auteur ; James C. MCPARTLAND, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Abha R. GUPTA, Auteur ; Sara Jane WEBB, Auteur ; A. C. E. Gendaar Network THE, Auteur Article en page(s) : p.898-908 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  communication  language  SNP rs2710102  the polymorphism of CNTNAP2 Index. décimale : PER Périodiques Résumé : Abstract One of the candidate genes related to language variability in individuals with Autism Spectrum Disorder (ASD) is the contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin family. However, due to the different assessment tools used, it is unknown whether the polymorphisms of the CNTNAP2 gene are linked to structural language skills or more general communication abilities. A total of 302 youth aged 7 to 18?years participated in the present study: 131 verbal youth with ASD (62 female), 130 typically developing (TD) youth (64 female), and 41 unaffected siblings (US) of youth with ASD (25 female). Blood samples were collected to obtain genomic DNA and processed by the Rutgers University Cell and Data Repository or using standard protocols (Gentra Puregene Blood DNA extraction kit; Qiagen). Language and verbal communication skills were screened with the Clinical Evaluation of Language Fundamental-4 (CELF-4) and Vineland-II Communication domain, subsequently. The results showed that the polymorphism of CNTNAP2 (SNP rs2710102) was related to structural language abilities, such that participants carrying the A-allele had lower language skills in comparison to the G-allele homozygotes. No relationship was found between the polymorphism of CNTNAP2 and more general communication abilities. Although the study revealed genetic mechanisms that are associated with CELF-4 measures but not Vineland-II in youth with ASD, follow-up studies are needed that will include measures of language and communication that are less correlated to each other as well as will include a group of minimally and/or non-verbal individuals with ASD. En ligne : https://doi.org/10.1002/aur.3193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Megha SANTHOSH, Auteur ; Emily NEUHAUS, Auteur ; Catherine A. W. SULLIVAN, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Daniel H. GESCHWIND, Auteur ; Allison JACK, Auteur ; James C. MCPARTLAND, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Abha R. GUPTA, Auteur ; Sara Jane WEBB, Auteur ; A. C. E. Gendaar Network THE, Auteur . - p.898-908. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.898-908 Mots-clés : Autism Spectrum Disorder  communication  language  SNP rs2710102  the polymorphism of CNTNAP2 Index. décimale : PER Périodiques Résumé : Abstract One of the candidate genes related to language variability in individuals with Autism Spectrum Disorder (ASD) is the contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin family. However, due to the different assessment tools used, it is unknown whether the polymorphisms of the CNTNAP2 gene are linked to structural language skills or more general communication abilities. A total of 302 youth aged 7 to 18?years participated in the present study: 131 verbal youth with ASD (62 female), 130 typically developing (TD) youth (64 female), and 41 unaffected siblings (US) of youth with ASD (25 female). Blood samples were collected to obtain genomic DNA and processed by the Rutgers University Cell and Data Repository or using standard protocols (Gentra Puregene Blood DNA extraction kit; Qiagen). Language and verbal communication skills were screened with the Clinical Evaluation of Language Fundamental-4 (CELF-4) and Vineland-II Communication domain, subsequently. The results showed that the polymorphism of CNTNAP2 (SNP rs2710102) was related to structural language abilities, such that participants carrying the A-allele had lower language skills in comparison to the G-allele homozygotes. No relationship was found between the polymorphism of CNTNAP2 and more general communication abilities. Although the study revealed genetic mechanisms that are associated with CELF-4 measures but not Vineland-II in youth with ASD, follow-up studies are needed that will include measures of language and communication that are less correlated to each other as well as will include a group of minimally and/or non-verbal individuals with ASD. En ligne : https://doi.org/10.1002/aur.3193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants / Kelsey DOMMER ; Monique MAHONY ; Trent D. DESCHAMPS ; Brianna CAIRNEY ; Rachel EARL ; Evangeline C. KURTZ-NELSON ; Jessica BRADSHAW ; Raphael A. BERNIER ; Evan E. EICHLER ; Emily NEUHAUS ; Sara Jane WEBB ; Frederick SHIC in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.909-921 Titre : Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants Type de document : Texte imprimé et/ou numérique Auteurs : Kelsey DOMMER, Auteur ; Monique MAHONY, Auteur ; Trent D. DESCHAMPS, Auteur ; Brianna CAIRNEY, Auteur ; Rachel EARL, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Jessica BRADSHAW, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur ; Emily NEUHAUS, Auteur ; Sara Jane WEBB, Auteur ; Frederick SHIC, Auteur Article en page(s) : p.909-921 Langues : Anglais (eng) Mots-clés : attention  autism spectrum disorder (ASD)  conversational flow  DYRK1A  electroencephalography (EEG)  eye tracking  genetic etiology  SCN2A  social attention Index. décimale : PER Périodiques Résumé : Abstract This preliminary study sought to assess biomarkers of attention using electroencephalography (EEG) and eye tracking in two ultra-rare monogenic populations associated with autism spectrum disorder (ASD). Relative to idiopathic ASD (n?=?12) and neurotypical comparison (n?=?49) groups, divergent attention profiles were observed for the monogenic groups, such that individuals with DYRK1A (n?=?9) exhibited diminished auditory attention condition differences during an oddball EEG paradigm whereas individuals with SCN2A (n?=?5) exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions. Findings provide initial support for alignment of auditory and visual attention markers in idiopathic ASD and neurotypical development but not monogenic groups. These results support ongoing efforts to develop translational ASD biomarkers within the attention domain. En ligne : https://doi.org/10.1002/aur.3202 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants [Texte imprimé et/ou numérique] / Kelsey DOMMER, Auteur ; Monique MAHONY, Auteur ; Trent D. DESCHAMPS, Auteur ; Brianna CAIRNEY, Auteur ; Rachel EARL, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Jessica BRADSHAW, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur ; Emily NEUHAUS, Auteur ; Sara Jane WEBB, Auteur ; Frederick SHIC, Auteur . - p.909-921. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.909-921 Mots-clés : attention  autism spectrum disorder (ASD)  conversational flow  DYRK1A  electroencephalography (EEG)  eye tracking  genetic etiology  SCN2A  social attention Index. décimale : PER Périodiques Résumé : Abstract This preliminary study sought to assess biomarkers of attention using electroencephalography (EEG) and eye tracking in two ultra-rare monogenic populations associated with autism spectrum disorder (ASD). Relative to idiopathic ASD (n?=?12) and neurotypical comparison (n?=?49) groups, divergent attention profiles were observed for the monogenic groups, such that individuals with DYRK1A (n?=?9) exhibited diminished auditory attention condition differences during an oddball EEG paradigm whereas individuals with SCN2A (n?=?5) exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions. Findings provide initial support for alignment of auditory and visual attention markers in idiopathic ASD and neurotypical development but not monogenic groups. These results support ongoing efforts to develop translational ASD biomarkers within the attention domain. En ligne : https://doi.org/10.1002/aur.3202 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Detailed phenotyping of Tbr1-2A-CreER knock-in mice demonstrates significant impacts on TBR1 protein levels and axon development / Grace K. O'BRIEN ; Kevin M. WRIGHT ; Brian J. O'ROAK in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.922-932 Titre : Detailed phenotyping of Tbr1-2A-CreER knock-in mice demonstrates significant impacts on TBR1 protein levels and axon development Type de document : Texte imprimé et/ou numérique Auteurs : Grace K. O'BRIEN, Auteur ; Kevin M. WRIGHT, Auteur ; Brian J. O'ROAK, Auteur Article en page(s) : p.922-932 Langues : Anglais (eng) Mots-clés : anterior commissure  axon  cortex  mice  TBR1  transcription factor Index. décimale : PER Périodiques Résumé : Abstract Cre recombinase knock-in mouse lines have served as invaluable genetic tools for understanding key developmental processes altered in autism. However, insertion of exogenous DNA into the genome can have unintended effects on local gene regulation or protein function that must be carefully considered. Here, we analyze a recently generated Tbr1-2A-CreER knock-in mouse line, where a 2A-CreER cassette was inserted in-frame before the stop codon of the transcription factor gene Tbr1. Heterozygous TBR1 mutations in humans and mice are known to cause autism or autism-like behavioral phenotypes accompanied by structural brain malformations, most frequently a reduction of the anterior commissure (AC). Thus, it is critical for modified versions of Tbr1 to exhibit true wild-type-like activity. We evaluated the Tbr1-2A-CreER allele for its potential impact on Tbr1 function and complementation to Tbr1 loss-of-function alleles. In mice with one copy of the Tbr1-2A-CreER allele, we identified reduction of TBR1 protein in early postnatal cortex along with thinning of the AC, suggesting hypersensitivity of this structure to TBR1 dosage. Comparing Tbr1-2A-CreER and Tbr1-null mice to Tbr1-null complementation crosses showed reductions of TBR1 dosage ranging from 20% to 100%. Using six combinatorial genotypes, we found that moderate to severe TBR1 reductions (?44%) were associated with cortical layer 5 expansion, while only the complete absence of TBR1 was associated with reeler-like ?inverted? cortical layering. In total, these results strongly support the conclusion that Tbr1-2A-CreER is a hypomorphic allele. We advise caution when interpreting experiments using this allele, considering the sensitivity of various corticogenic processes to TBR1 dosage and the association of heterozygous TBR1 mutations with complex neurodevelopmental disorders. En ligne : https://doi.org/10.1002/aur.3271 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Detailed phenotyping of Tbr1-2A-CreER knock-in mice demonstrates significant impacts on TBR1 protein levels and axon development [Texte imprimé et/ou numérique] / Grace K. O'BRIEN, Auteur ; Kevin M. WRIGHT, Auteur ; Brian J. O'ROAK, Auteur . - p.922-932. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.922-932 Mots-clés : anterior commissure  axon  cortex  mice  TBR1  transcription factor Index. décimale : PER Périodiques Résumé : Abstract Cre recombinase knock-in mouse lines have served as invaluable genetic tools for understanding key developmental processes altered in autism. However, insertion of exogenous DNA into the genome can have unintended effects on local gene regulation or protein function that must be carefully considered. Here, we analyze a recently generated Tbr1-2A-CreER knock-in mouse line, where a 2A-CreER cassette was inserted in-frame before the stop codon of the transcription factor gene Tbr1. Heterozygous TBR1 mutations in humans and mice are known to cause autism or autism-like behavioral phenotypes accompanied by structural brain malformations, most frequently a reduction of the anterior commissure (AC). Thus, it is critical for modified versions of Tbr1 to exhibit true wild-type-like activity. We evaluated the Tbr1-2A-CreER allele for its potential impact on Tbr1 function and complementation to Tbr1 loss-of-function alleles. In mice with one copy of the Tbr1-2A-CreER allele, we identified reduction of TBR1 protein in early postnatal cortex along with thinning of the AC, suggesting hypersensitivity of this structure to TBR1 dosage. Comparing Tbr1-2A-CreER and Tbr1-null mice to Tbr1-null complementation crosses showed reductions of TBR1 dosage ranging from 20% to 100%. Using six combinatorial genotypes, we found that moderate to severe TBR1 reductions (?44%) were associated with cortical layer 5 expansion, while only the complete absence of TBR1 was associated with reeler-like ?inverted? cortical layering. In total, these results strongly support the conclusion that Tbr1-2A-CreER is a hypomorphic allele. We advise caution when interpreting experiments using this allele, considering the sensitivity of various corticogenic processes to TBR1 dosage and the association of heterozygous TBR1 mutations with complex neurodevelopmental disorders. En ligne : https://doi.org/10.1002/aur.3271 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Analysis of mitochondrial DNA replisome in autism spectrum disorder: Exploring the role of replisome genes / Carlos CARRASCO-GALLARDO ; Lidia TENORIO ; Margrethe A. OLESEN ; Victor TAPIA ; Manuel CARRASCO ; Patricio ARAOS ; Rodrigo A. QUINTANILLA ; Lina M. RUIZ in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.933-953 Titre : Analysis of mitochondrial DNA replisome in autism spectrum disorder: Exploring the role of replisome genes Type de document : Texte imprimé et/ou numérique Auteurs : Carlos CARRASCO-GALLARDO, Auteur ; Lidia TENORIO, Auteur ; Margrethe A. OLESEN, Auteur ; Victor TAPIA, Auteur ; Manuel CARRASCO, Auteur ; Patricio ARAOS, Auteur ; Rodrigo A. QUINTANILLA, Auteur ; Lina M. RUIZ, Auteur Article en page(s) : p.933-953 Langues : Anglais (eng) Mots-clés : ASD  autism  mitochondrial DNA  mtDNA replisome  TFAM  MT-TL1  POLG  TFAM overexpression  TOPMT1  TWNK Index. décimale : PER Périodiques Résumé : Abstract Autism spectrum disorder (ASD) is a neurodevelopmental condition often associated with mitochondrial dysfunction, including increased mitochondrial DNA (mtDNA) copy number and impaired energy production. This study investigates the role of the mitochondrial replisome?specifically, the genes TFAM, TWNK, POLG, and TOP1MT?in mtDNA replication and its potential contribution to ASD pathophysiology. We analyzed samples from the oral mucosa of children with ASD and typically developing (TD) controls, assessing mtDNA copy number, gene expression, and protein levels. Our findings revealed a significant increase in mtDNA copy number in the oral mucosa of ASD children, along with partially deleted mtDNA molecules. However, there were no significant changes in the expression of TFAM, TWNK, POLG, or MT-TL1 genes between ASD and TD samples. Additionally, TFAM protein levels, including monomeric, dimeric, and trimeric forms, did not differ significantly. We also observed increased oxidative stress and inflammatory markers in the oral mucosa of ASD children, suggesting that mitochondrial alterations may be linked to inflammation and oxidative damage in ASD. To further investigate the functional impact of TFAM, we overexpressed it in human HEK293 cells and cortical neurons (CN1.4). TFAM overexpression led to increased mtDNA copy number, cell proliferation, and ATP production in HEK293 cells, but did not significantly alter mitochondrial gene expression, protein oxidation, or mtDNA integrity. In CN1.4 neurons, TFAM overexpression increased mitochondrial membrane potential and length, indicating potential changes in mitochondrial dynamics. Overall, our study suggests that while mtDNA alterations are present in ASD, they are not directly driven by changes in mitochondrial replisome gene expression. These findings highlight the complexity of mitochondrial dysfunction in ASD and suggest the need for further investigation into the underlying molecular mechanisms. En ligne : https://doi.org/10.1002/aur.3277 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Analysis of mitochondrial DNA replisome in autism spectrum disorder: Exploring the role of replisome genes [Texte imprimé et/ou numérique] / Carlos CARRASCO-GALLARDO, Auteur ; Lidia TENORIO, Auteur ; Margrethe A. OLESEN, Auteur ; Victor TAPIA, Auteur ; Manuel CARRASCO, Auteur ; Patricio ARAOS, Auteur ; Rodrigo A. QUINTANILLA, Auteur ; Lina M. RUIZ, Auteur . - p.933-953. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.933-953 Mots-clés : ASD  autism  mitochondrial DNA  mtDNA replisome  TFAM  MT-TL1  POLG  TFAM overexpression  TOPMT1  TWNK Index. décimale : PER Périodiques Résumé : Abstract Autism spectrum disorder (ASD) is a neurodevelopmental condition often associated with mitochondrial dysfunction, including increased mitochondrial DNA (mtDNA) copy number and impaired energy production. This study investigates the role of the mitochondrial replisome?specifically, the genes TFAM, TWNK, POLG, and TOP1MT?in mtDNA replication and its potential contribution to ASD pathophysiology. We analyzed samples from the oral mucosa of children with ASD and typically developing (TD) controls, assessing mtDNA copy number, gene expression, and protein levels. Our findings revealed a significant increase in mtDNA copy number in the oral mucosa of ASD children, along with partially deleted mtDNA molecules. However, there were no significant changes in the expression of TFAM, TWNK, POLG, or MT-TL1 genes between ASD and TD samples. Additionally, TFAM protein levels, including monomeric, dimeric, and trimeric forms, did not differ significantly. We also observed increased oxidative stress and inflammatory markers in the oral mucosa of ASD children, suggesting that mitochondrial alterations may be linked to inflammation and oxidative damage in ASD. To further investigate the functional impact of TFAM, we overexpressed it in human HEK293 cells and cortical neurons (CN1.4). TFAM overexpression led to increased mtDNA copy number, cell proliferation, and ATP production in HEK293 cells, but did not significantly alter mitochondrial gene expression, protein oxidation, or mtDNA integrity. In CN1.4 neurons, TFAM overexpression increased mitochondrial membrane potential and length, indicating potential changes in mitochondrial dynamics. Overall, our study suggests that while mtDNA alterations are present in ASD, they are not directly driven by changes in mitochondrial replisome gene expression. These findings highlight the complexity of mitochondrial dysfunction in ASD and suggest the need for further investigation into the underlying molecular mechanisms. En ligne : https://doi.org/10.1002/aur.3277 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development / Bing DU ; Guodong CHEN ; Yongqing LYU ; Hui GUO ; Xiangbin JIA ; Kun XIA in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.954-965 Titre : Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development Type de document : Texte imprimé et/ou numérique Auteurs : Bing DU, Auteur ; Guodong CHEN, Auteur ; Yongqing LYU, Auteur ; Hui GUO, Auteur ; Xiangbin JIA, Auteur ; Kun XIA, Auteur Article en page(s) : p.954-965 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  brain development  de novo mutations  NAA15  neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : ABSTRACT Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive. By employing targeted sequencing on a large Chinese cohort affected by ASD and conducting an extensive literature review, we have compiled 64 distinct variants in the NAA15 gene identified among individuals with neurodevelopmental disorders. Our research demonstrates that loss of NAA15 leads to a substantial increase in neuronal count, potentially resulting in aberrant brain development and triggering repetitive as well as anxious behaviors in mice models. Furthermore, disorder-associated variants within NAA15 impair axon and synapse formation processes crucial for neural connectivity establishment. These findings shed light on the consequences of NAA15 deficiency along with its de novo mutations on brain development while unraveling the cellular mechanisms underlying NDDs. En ligne : https://doi.org/10.1002/aur.3308 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development [Texte imprimé et/ou numérique] / Bing DU, Auteur ; Guodong CHEN, Auteur ; Yongqing LYU, Auteur ; Hui GUO, Auteur ; Xiangbin JIA, Auteur ; Kun XIA, Auteur . - p.954-965. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.954-965 Mots-clés : autism spectrum disorders  brain development  de novo mutations  NAA15  neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : ABSTRACT Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive. By employing targeted sequencing on a large Chinese cohort affected by ASD and conducting an extensive literature review, we have compiled 64 distinct variants in the NAA15 gene identified among individuals with neurodevelopmental disorders. Our research demonstrates that loss of NAA15 leads to a substantial increase in neuronal count, potentially resulting in aberrant brain development and triggering repetitive as well as anxious behaviors in mice models. Furthermore, disorder-associated variants within NAA15 impair axon and synapse formation processes crucial for neural connectivity establishment. These findings shed light on the consequences of NAA15 deficiency along with its de novo mutations on brain development while unraveling the cellular mechanisms underlying NDDs. En ligne : https://doi.org/10.1002/aur.3308 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

m6A-mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly / Nicholas K. HAGHANI ; Gabriana N. LA ; Natasha Ann F. MARIANO ; José M. URIBE-SALAZAR ; Gulhan KAYA ; Melissa REGESTER ; Derek Sayre ANDREWS ; Christine Wu NORDAHL ; David G. AMARAL ; Megan Y. DENNIS in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.966-982 Titre : m6A-mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly Type de document : Texte imprimé et/ou numérique Auteurs : Nicholas K. HAGHANI, Auteur ; Gabriana N. LA, Auteur ; Natasha Ann F. MARIANO, Auteur ; José M. URIBE-SALAZAR, Auteur ; Gulhan KAYA, Auteur ; Melissa REGESTER, Auteur ; Derek Sayre ANDREWS, Auteur ; Christine Wu NORDAHL, Auteur ; David G. AMARAL, Auteur ; Megan Y. DENNIS, Auteur Article en page(s) : p.966-982 Langues : Anglais (eng) Mots-clés : autism  disproportionate megalencephaly  genetics  m6A-RNA modification  YTHDF2  zebrafish Index. décimale : PER Périodiques Résumé : ABSTRACT Among autistic individuals, a subphenotype of disproportionate megalencephaly (ASD-DM) seen at three years of age is associated with co-occurring intellectual disability and poorer prognoses later in life. However, many of the genes contributing to ASD-DM have yet to be delineated. In this study, we identified additional ASD-DM candidate genes with the aim to better define the genetic etiology of this subphenotype of autism. We expanded the previously studied sample size of ASD-DM individuals ten fold by including probands from the Autism Phenome Project and Simons Simplex Collection, totaling 766 autistic individuals meeting the criteria for megalencephaly or macrocephaly and revealing 154 candidate ASD-DM genes harboring de novo protein-impacting variants. Our findings include 14 high confidence autism genes and seven genes previously associated with DM. Five impacted genes have previously been associated with both autism and DM, including CHD8 and PTEN. By performing functional network analysis, we expanded to additional candidate genes, including one previously implicated in ASD-DM (PIK3CA) as well as 184 additional genes connected with ASD or DM alone. Using zebrafish, we modeled a de novo tandem duplication impacting YTHDF2, encoding an N6-methyladenosine (m6A)-mRNA reader, in an ASD-DM proband. Testing zebrafish CRISPR knockdown led to reduced head/brain size, while overexpressing YTHDF2 resulted in increased head/brain size matching that of the proband. Single-cell transcriptomes of YTHDF2 gain-of-function larvae point to reduced expression of Fragile-X-syndrome-associated FMRP-target genes globally and in the developing brain, providing insight into the mechanism underlying autistic phenotypes. We additionally discovered a variant impacting a different gene encoding an m6A reader, YTHDC1, in our ASD-DM cohort. Though we highlight only two cases to date, our study provides support for the m6A-RNA modification pathway as potentially contributing to this severe form of autism. En ligne : https://doi.org/10.1002/aur.3314 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] m6A-mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly [Texte imprimé et/ou numérique] / Nicholas K. HAGHANI, Auteur ; Gabriana N. LA, Auteur ; Natasha Ann F. MARIANO, Auteur ; José M. URIBE-SALAZAR, Auteur ; Gulhan KAYA, Auteur ; Melissa REGESTER, Auteur ; Derek Sayre ANDREWS, Auteur ; Christine Wu NORDAHL, Auteur ; David G. AMARAL, Auteur ; Megan Y. DENNIS, Auteur . - p.966-982. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.966-982 Mots-clés : autism  disproportionate megalencephaly  genetics  m6A-RNA modification  YTHDF2  zebrafish Index. décimale : PER Périodiques Résumé : ABSTRACT Among autistic individuals, a subphenotype of disproportionate megalencephaly (ASD-DM) seen at three years of age is associated with co-occurring intellectual disability and poorer prognoses later in life. However, many of the genes contributing to ASD-DM have yet to be delineated. In this study, we identified additional ASD-DM candidate genes with the aim to better define the genetic etiology of this subphenotype of autism. We expanded the previously studied sample size of ASD-DM individuals ten fold by including probands from the Autism Phenome Project and Simons Simplex Collection, totaling 766 autistic individuals meeting the criteria for megalencephaly or macrocephaly and revealing 154 candidate ASD-DM genes harboring de novo protein-impacting variants. Our findings include 14 high confidence autism genes and seven genes previously associated with DM. Five impacted genes have previously been associated with both autism and DM, including CHD8 and PTEN. By performing functional network analysis, we expanded to additional candidate genes, including one previously implicated in ASD-DM (PIK3CA) as well as 184 additional genes connected with ASD or DM alone. Using zebrafish, we modeled a de novo tandem duplication impacting YTHDF2, encoding an N6-methyladenosine (m6A)-mRNA reader, in an ASD-DM proband. Testing zebrafish CRISPR knockdown led to reduced head/brain size, while overexpressing YTHDF2 resulted in increased head/brain size matching that of the proband. Single-cell transcriptomes of YTHDF2 gain-of-function larvae point to reduced expression of Fragile-X-syndrome-associated FMRP-target genes globally and in the developing brain, providing insight into the mechanism underlying autistic phenotypes. We additionally discovered a variant impacting a different gene encoding an m6A reader, YTHDC1, in our ASD-DM cohort. Though we highlight only two cases to date, our study provides support for the m6A-RNA modification pathway as potentially contributing to this severe form of autism. En ligne : https://doi.org/10.1002/aur.3314 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

First Impressions Towards Autistic People: A Systematic Review and Meta-Analysis / Murray T. MAYBERY ; Romina PALERMO ; Andrew J. O. WHITEHOUSE ; Diana Weiting TAN in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.983-1010 Titre : First Impressions Towards Autistic People: A Systematic Review and Meta-Analysis Type de document : Texte imprimé et/ou numérique Auteurs : Murray T. MAYBERY, Auteur ; Romina PALERMO, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Diana Weiting TAN, Auteur Article en page(s) : p.983-1010 Langues : Anglais (eng) Mots-clés : autism  first impressions  person perception  social cognition  social evaluation  social favorability  social interaction  stigma Index. décimale : PER Périodiques Résumé : ABSTRACT Emerging evidence suggests that observers tend to form less favorable first impressions toward autistic people than toward non-autistic people. These negative impressions may be associated with immediate behavioral responses, as well as long-lasting attitudes toward those being observed that may negatively impact their psychosocial wellbeing. This systematic review and meta-analysis synthesized the existing literature that has compared first impressions toward autistic and non-autistic people to investigate whether first impressions are influenced by: (1) type of first impression measure, (2) modality of stimulus presentation, and (3) characteristics of the observers and/or stimulus participants. Key inclusion criteria were: (1) one or more groups of observers provided first impression ratings, (2) the stimuli were presented in either audio-only, video-only, audio?video, still image, or speech transcript format, and (3) first impressions toward autistic and non-autistic individuals were compared. A systematic search identified a final sample of 21 articles, which included 221 effects for analyses. Findings showed that first impressions were generally less favorable for autistic compared to non-autistic people across all presentation modalities other than speech transcript, with effect sizes typically moderate to large. Differences in first impressions toward autistic and non-autistic people were generally more pronounced for ratings of interpersonal attraction and social and communication presentation, rather than for ratings of psychological and personality traits. There was also some evidence that characteristics of non-autistic observers, such as autism knowledge and quality of contact with autistic people, impact first impressions. These findings provide insight into the critical role first impressions play in influencing social interaction between autistic and non-autistic individuals. En ligne : https://doi.org/10.1002/aur.70019 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] First Impressions Towards Autistic People: A Systematic Review and Meta-Analysis [Texte imprimé et/ou numérique] / Murray T. MAYBERY, Auteur ; Romina PALERMO, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Diana Weiting TAN, Auteur . - p.983-1010. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.983-1010 Mots-clés : autism  first impressions  person perception  social cognition  social evaluation  social favorability  social interaction  stigma Index. décimale : PER Périodiques Résumé : ABSTRACT Emerging evidence suggests that observers tend to form less favorable first impressions toward autistic people than toward non-autistic people. These negative impressions may be associated with immediate behavioral responses, as well as long-lasting attitudes toward those being observed that may negatively impact their psychosocial wellbeing. This systematic review and meta-analysis synthesized the existing literature that has compared first impressions toward autistic and non-autistic people to investigate whether first impressions are influenced by: (1) type of first impression measure, (2) modality of stimulus presentation, and (3) characteristics of the observers and/or stimulus participants. Key inclusion criteria were: (1) one or more groups of observers provided first impression ratings, (2) the stimuli were presented in either audio-only, video-only, audio?video, still image, or speech transcript format, and (3) first impressions toward autistic and non-autistic individuals were compared. A systematic search identified a final sample of 21 articles, which included 221 effects for analyses. Findings showed that first impressions were generally less favorable for autistic compared to non-autistic people across all presentation modalities other than speech transcript, with effect sizes typically moderate to large. Differences in first impressions toward autistic and non-autistic people were generally more pronounced for ratings of interpersonal attraction and social and communication presentation, rather than for ratings of psychological and personality traits. There was also some evidence that characteristics of non-autistic observers, such as autism knowledge and quality of contact with autistic people, impact first impressions. These findings provide insight into the critical role first impressions play in influencing social interaction between autistic and non-autistic individuals. En ligne : https://doi.org/10.1002/aur.70019 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Age-Dependent Effects of Loss of Contactin-Associated Protein-Like 2, an Autism-Associated Gene, on the Acquisition and Recall of Fear Memory / A. BERNS ; M. JONES ; A. TOWNSEND ; A. K. EAGEN ; Sarah L. FERRI ; D. R. LANGBEHN ; H. JANOUSCHEK in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1011-1023 Titre : Age-Dependent Effects of Loss of Contactin-Associated Protein-Like 2, an Autism-Associated Gene, on the Acquisition and Recall of Fear Memory Type de document : Texte imprimé et/ou numérique Auteurs : A. BERNS, Auteur ; M. JONES, Auteur ; A. TOWNSEND, Auteur ; A. K. EAGEN, Auteur ; Sarah L. FERRI, Auteur ; D. R. LANGBEHN, Auteur ; H. JANOUSCHEK, Auteur Article en page(s) : p.1011-1023 Langues : Anglais (eng) Mots-clés : anxiety  autism spectrum disorder  CASPR2  Cntnap2  development  fear  fear conditioning  memory Index. décimale : PER Périodiques Résumé : ABSTRACT The contactin-associated protein-like 2 (Cntnap2) gene is relevant to autism spectrum disorder (ASD), which is associated with age-specific structural alterations in limbic brain regions. The Cntnap2 gene encodes for the contactin-associated protein-like 2 (CASPR2) protein, and CASPR2 protein levels are high in the amygdala, a limbic region that is essential for the processing of fear and anxiety. In humans, reduced levels of this protein arising from CNTNAP2 mutations could potentially account for the autism-associated increase in fear and anxiety. Here, we report the extent to which loss of CASPR2 in mice contributes to the development of fear- and anxiety-related behaviors. Pavlovian fear conditioning experiments revealed that loss of CASPR2 has age-dependent effects on the acquisition of fear memory, recall of both cue-evoked and context-related fear memory, and stability of cue-evoked fear memory. Additionally, data from the elevated zero maze suggest that CASPR2 deficiency contributes to anxiety-related behaviors, especially in juvenile (29-day old) mice. These are the first reports of age-dependent effects of CASPR2 deficiency on fear and anxiety-related behaviors, and they set the stage for a better understanding of developmental alterations of fear and anxiety in ASD. En ligne : https://doi.org/10.1002/aur.70034 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Age-Dependent Effects of Loss of Contactin-Associated Protein-Like 2, an Autism-Associated Gene, on the Acquisition and Recall of Fear Memory [Texte imprimé et/ou numérique] / A. BERNS, Auteur ; M. JONES, Auteur ; A. TOWNSEND, Auteur ; A. K. EAGEN, Auteur ; Sarah L. FERRI, Auteur ; D. R. LANGBEHN, Auteur ; H. JANOUSCHEK, Auteur . - p.1011-1023. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1011-1023 Mots-clés : anxiety  autism spectrum disorder  CASPR2  Cntnap2  development  fear  fear conditioning  memory Index. décimale : PER Périodiques Résumé : ABSTRACT The contactin-associated protein-like 2 (Cntnap2) gene is relevant to autism spectrum disorder (ASD), which is associated with age-specific structural alterations in limbic brain regions. The Cntnap2 gene encodes for the contactin-associated protein-like 2 (CASPR2) protein, and CASPR2 protein levels are high in the amygdala, a limbic region that is essential for the processing of fear and anxiety. In humans, reduced levels of this protein arising from CNTNAP2 mutations could potentially account for the autism-associated increase in fear and anxiety. Here, we report the extent to which loss of CASPR2 in mice contributes to the development of fear- and anxiety-related behaviors. Pavlovian fear conditioning experiments revealed that loss of CASPR2 has age-dependent effects on the acquisition of fear memory, recall of both cue-evoked and context-related fear memory, and stability of cue-evoked fear memory. Additionally, data from the elevated zero maze suggest that CASPR2 deficiency contributes to anxiety-related behaviors, especially in juvenile (29-day old) mice. These are the first reports of age-dependent effects of CASPR2 deficiency on fear and anxiety-related behaviors, and they set the stage for a better understanding of developmental alterations of fear and anxiety in ASD. En ligne : https://doi.org/10.1002/aur.70034 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Disrupted Resting-State Functional Connectivity in the Social Visual Pathway in Children With Autism Spectrum Disorder / Haesoo PARK ; Jitendra AWASTHI ; Max ROLISON ; Mingfei LI ; Dustin SCHEINOST ; Katarzyna CHAWARSKA ; Michelle HAMPSON in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1024-1036 Titre : Disrupted Resting-State Functional Connectivity in the Social Visual Pathway in Children With Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Haesoo PARK, Auteur ; Jitendra AWASTHI, Auteur ; Max ROLISON, Auteur ; Mingfei LI, Auteur ; Dustin SCHEINOST, Auteur ; Katarzyna CHAWARSKA, Auteur ; Michelle HAMPSON, Auteur Article en page(s) : p.1024-1036 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  functional connectivity  resting-state fMRI  social functioning  social visual pathway Index. décimale : PER Périodiques Résumé : ABSTRACT The social visual pathway, which diverges from the dorsal pathway at the visual motion area (MT/V5) and runs from the posterior down to anterior portions of the superior temporal sulcus (STS), specializes in processing dynamic social information. This study examined resting-state functional connectivity within this pathway in children with autism spectrum disorder (ASD) and typically developing (TD) children. Using data from the Autism Brain Imaging Data Exchange (ABIDE) repository, we found significant hypoconnectivity between the posterior and middle STS (pSTS?mSTS) in the right hemisphere in children with ASD compared to those in TD children. Lower connectivity in this region of the pathway correlated with more severe social symptoms in ASD and higher indices of social communication vulnerabilities in the combined ASD and TD groups. These findings suggest that a specific disruption in the right hemisphere social visual pathway in children with ASD potentially contributes to their social difficulties. En ligne : https://doi.org/10.1002/aur.70037 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Disrupted Resting-State Functional Connectivity in the Social Visual Pathway in Children With Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Haesoo PARK, Auteur ; Jitendra AWASTHI, Auteur ; Max ROLISON, Auteur ; Mingfei LI, Auteur ; Dustin SCHEINOST, Auteur ; Katarzyna CHAWARSKA, Auteur ; Michelle HAMPSON, Auteur . - p.1024-1036. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1024-1036 Mots-clés : autism spectrum disorder  functional connectivity  resting-state fMRI  social functioning  social visual pathway Index. décimale : PER Périodiques Résumé : ABSTRACT The social visual pathway, which diverges from the dorsal pathway at the visual motion area (MT/V5) and runs from the posterior down to anterior portions of the superior temporal sulcus (STS), specializes in processing dynamic social information. This study examined resting-state functional connectivity within this pathway in children with autism spectrum disorder (ASD) and typically developing (TD) children. Using data from the Autism Brain Imaging Data Exchange (ABIDE) repository, we found significant hypoconnectivity between the posterior and middle STS (pSTS?mSTS) in the right hemisphere in children with ASD compared to those in TD children. Lower connectivity in this region of the pathway correlated with more severe social symptoms in ASD and higher indices of social communication vulnerabilities in the combined ASD and TD groups. These findings suggest that a specific disruption in the right hemisphere social visual pathway in children with ASD potentially contributes to their social difficulties. En ligne : https://doi.org/10.1002/aur.70037 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Activation of Thematic and Taxonomic Relations During Lexical-Semantic Processing in Autistic Children: Evidence From Eye Movements / Tianbi LI ; Ruoxi SHI ; Ran WEI ; Li YI in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1037-1049 Titre : Activation of Thematic and Taxonomic Relations During Lexical-Semantic Processing in Autistic Children: Evidence From Eye Movements Type de document : Texte imprimé et/ou numérique Auteurs : Tianbi LI, Auteur ; Ruoxi SHI, Auteur ; Ran WEI, Auteur ; Li YI, Auteur Article en page(s) : p.1037-1049 Langues : Anglais (eng) Mots-clés : autism  children  eye tracking  lexical-semantic network  lexical-semantic processing  taxonomic relations  thematic relations Index. décimale : PER Périodiques Résumé : ABSTRACT This study investigated the activation of thematic and taxonomic relations during online lexical-semantic processing in autistic children using an eye-tracking competition task. Thirty-six preschool-aged autistic children and 35 age-, gender-, and verbal-IQ-matched neurotypical (NT) children viewed arrays containing a target object, a thematically related competitor, a taxonomically related competitor, and an unrelated distractor while hearing the target word. Results revealed three key findings. First, both groups demonstrated activation of thematic and taxonomic relations during lexical processing, with comparable timing of activation onset. Second, while autistic children began to systematically orient attention to the target as quickly as NT children, they showed reduced overall attention to the target during lexical processing. Third, autistic children exhibited stronger activation of taxonomic relations and stronger taxonomic competition effects on target recognition compared to NT children, whereas their activation of thematic relations and thematic competition effects were comparable to NT children. These findings suggest that while the basic thematic and taxonomic activation processes remain robust in autistic children, and while their initial activation of the target and semantically related representations is as fast as that of NT children, the increased sensitivity to taxonomic relations in autistic children might interfere with the overall processing efficiency of target words. These results advance our understanding of lexical-semantic organization and processing in autism and provide implications for language intervention strategies. En ligne : https://doi.org/10.1002/aur.70023 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Activation of Thematic and Taxonomic Relations During Lexical-Semantic Processing in Autistic Children: Evidence From Eye Movements [Texte imprimé et/ou numérique] / Tianbi LI, Auteur ; Ruoxi SHI, Auteur ; Ran WEI, Auteur ; Li YI, Auteur . - p.1037-1049. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1037-1049 Mots-clés : autism  children  eye tracking  lexical-semantic network  lexical-semantic processing  taxonomic relations  thematic relations Index. décimale : PER Périodiques Résumé : ABSTRACT This study investigated the activation of thematic and taxonomic relations during online lexical-semantic processing in autistic children using an eye-tracking competition task. Thirty-six preschool-aged autistic children and 35 age-, gender-, and verbal-IQ-matched neurotypical (NT) children viewed arrays containing a target object, a thematically related competitor, a taxonomically related competitor, and an unrelated distractor while hearing the target word. Results revealed three key findings. First, both groups demonstrated activation of thematic and taxonomic relations during lexical processing, with comparable timing of activation onset. Second, while autistic children began to systematically orient attention to the target as quickly as NT children, they showed reduced overall attention to the target during lexical processing. Third, autistic children exhibited stronger activation of taxonomic relations and stronger taxonomic competition effects on target recognition compared to NT children, whereas their activation of thematic relations and thematic competition effects were comparable to NT children. These findings suggest that while the basic thematic and taxonomic activation processes remain robust in autistic children, and while their initial activation of the target and semantically related representations is as fast as that of NT children, the increased sensitivity to taxonomic relations in autistic children might interfere with the overall processing efficiency of target words. These results advance our understanding of lexical-semantic organization and processing in autism and provide implications for language intervention strategies. En ligne : https://doi.org/10.1002/aur.70023 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Autistic Traits and Emotion Dysregulation in 5-11-Year-Old Intellectually Able Children With Autism Spectrum Condition: Mediating Role of Emotion Regulation Strategies / Angana NANDY ; Hsing-Chang NI in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1050-1061 Titre : Autistic Traits and Emotion Dysregulation in 5-11-Year-Old Intellectually Able Children With Autism Spectrum Condition: Mediating Role of Emotion Regulation Strategies Type de document : Texte imprimé et/ou numérique Auteurs : Angana NANDY, Auteur ; Hsing-Chang NI, Auteur Article en page(s) : p.1050-1061 Langues : Anglais (eng) Mots-clés : cognitive reappraisal  ERS-focused intervention  expressive suppression  parental coregulation  parent-child dyad Index. décimale : PER Périodiques Résumé : ABSTRACT Emotion dysregulation (ED) is common among children with an autism spectrum condition (ASC). However, the mechanisms underlying emotion regulation strategies (ERSs) and their impacts on ED in this population remain unclear. The current study examined whether ED is directly related to autistic traits or mediated by deficits in ERSs after comorbidity is accounted for. A cohort of 110 intellectually able children aged 5?11?years with ASC participated in this study. Autistic traits and ED were assessed using the Autism Spectrum Quotient-Children and Child Behavior Checklist, respectively. Intrinsic ERSs, specifically cognitive reappraisal and expressive suppression, were evaluated using the Parent Emotion Regulation Questionnaire, alongside items measuring parental coregulation as an extrinsic ERS. After adjusting for comorbidities (i.e., other neurodevelopmental or neurological disorders), the findings revealed pronounced autistic traits in social skills, attention switching, communication, and imagination correlated with higher ED levels, with parental coregulation mediating this correlation. Notably, the effects of communication and imagination on ED were fully mediated by parental coregulation. Additionally, autistic traits related to imagination were demonstrated to impair the development of cognitive reappraisal, further exacerbating ED. These results provide a deeper understanding of the emotional challenges faced by intellectually able children with ASC. The findings of this study underscore the importance of interventions aimed at enhancing emotion regulation within the parent?child dyad and fostering the development of cognitive reappraisal through imitative tasks. Such ERS-focused interventions hold potential for mitigating the adverse effects of autistic traits on emotional functioning. En ligne : https://doi.org/10.1002/aur.70027 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Autistic Traits and Emotion Dysregulation in 5-11-Year-Old Intellectually Able Children With Autism Spectrum Condition: Mediating Role of Emotion Regulation Strategies [Texte imprimé et/ou numérique] / Angana NANDY, Auteur ; Hsing-Chang NI, Auteur . - p.1050-1061. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1050-1061 Mots-clés : cognitive reappraisal  ERS-focused intervention  expressive suppression  parental coregulation  parent-child dyad Index. décimale : PER Périodiques Résumé : ABSTRACT Emotion dysregulation (ED) is common among children with an autism spectrum condition (ASC). However, the mechanisms underlying emotion regulation strategies (ERSs) and their impacts on ED in this population remain unclear. The current study examined whether ED is directly related to autistic traits or mediated by deficits in ERSs after comorbidity is accounted for. A cohort of 110 intellectually able children aged 5?11?years with ASC participated in this study. Autistic traits and ED were assessed using the Autism Spectrum Quotient-Children and Child Behavior Checklist, respectively. Intrinsic ERSs, specifically cognitive reappraisal and expressive suppression, were evaluated using the Parent Emotion Regulation Questionnaire, alongside items measuring parental coregulation as an extrinsic ERS. After adjusting for comorbidities (i.e., other neurodevelopmental or neurological disorders), the findings revealed pronounced autistic traits in social skills, attention switching, communication, and imagination correlated with higher ED levels, with parental coregulation mediating this correlation. Notably, the effects of communication and imagination on ED were fully mediated by parental coregulation. Additionally, autistic traits related to imagination were demonstrated to impair the development of cognitive reappraisal, further exacerbating ED. These results provide a deeper understanding of the emotional challenges faced by intellectually able children with ASC. The findings of this study underscore the importance of interventions aimed at enhancing emotion regulation within the parent?child dyad and fostering the development of cognitive reappraisal through imitative tasks. Such ERS-focused interventions hold potential for mitigating the adverse effects of autistic traits on emotional functioning. En ligne : https://doi.org/10.1002/aur.70027 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

What Is Distinctive About Autism Arising Following Severe Institutional Deprivation? A Direct Comparison With a Community Sample of Early Diagnosed Autistic People / Susie CHANDLER ; Mark KENNEDY ; Tony CHARMAN ; Emily SIMONOFF ; Edmund SONUGA-BARKE in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1062-1076 Titre : What Is Distinctive About Autism Arising Following Severe Institutional Deprivation? A Direct Comparison With a Community Sample of Early Diagnosed Autistic People Type de document : Texte imprimé et/ou numérique Auteurs : Susie CHANDLER, Auteur ; Mark KENNEDY, Auteur ; Tony CHARMAN, Auteur ; Emily SIMONOFF, Auteur ; Edmund SONUGA-BARKE, Auteur Article en page(s) : p.1062-1076 Langues : Anglais (eng) Mots-clés : autism  early adversity  institutional deprivation  longitudinal  Romanian adoptees Index. décimale : PER Périodiques Résumé : ABSTRACT In the English and Romanian Adoptees study, a substantial proportion of adoptees who suffered extended severe deprivation (26 of 101) displayed autistic characteristics termed quasi-autism (QA). Here we directly compare this group with a community sample of early diagnosed autistic individuals (community autism; CA). First, we characterized the QA autism symptom profile (61.5% females) by calculating which of the 32 Social Communication Questionnaire (SCQ) items were statistically more common in the QA group than in a control group of 52 non-deprived UK adoptees (UK Control, 34.6% females) at ages 11, 15, and/or 23?years of age. The latent structure of these QA-characteristic items was explored using confirmatory factor analyses. Second, we compared the QA symptom profiles with CA profiles using a sample from the QUEST study (Salazar et al. 2015). To do this, we identified two QUEST groups, one aged 11?years on average (n?=?21) and one aged 15?years (n?=?24). The former were compared to ERA SCQ scores at age 11, and the latter at age 15. Nineteen SCQ items were statistically significantly more common in the QA group than in the ERA UK control group at ages 11 and 15. Ten differences persisted into adulthood. These QA-characteristic items ranged across and mapped onto all three standard SCQ domains (social reciprocity, communication, repetitive and stereotyped behaviors). The age 11 CA group scored higher than QA at 11?years across each subscale when all items were considered. However, when only QA-characteristic items were included, only scores for the Repetitive and Stereotyped subscale differentiated QA and CA. When the age 15 comparison was made, no differences were found between CA and QA subscales. QA and CA were associated with similar levels of emotional and conduct problems and overactivity/inattention levels. QA shared many features with CA. QA difficulties extended across all autism domains and were associated to a similar degree with emotional and behavioral problems. However, there were some distinctive elements. Compared to the classic autism profile, the communication domain mainly comprised persistent abnormalities of linguistic expression. In contrast, social reciprocity problems were diffuse, less severe, and declined over time. QA-characteristic repetitive and stereotyped behaviors are broadly expressed and endure into adulthood. En ligne : https://doi.org/10.1002/aur.70026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] What Is Distinctive About Autism Arising Following Severe Institutional Deprivation? A Direct Comparison With a Community Sample of Early Diagnosed Autistic People [Texte imprimé et/ou numérique] / Susie CHANDLER, Auteur ; Mark KENNEDY, Auteur ; Tony CHARMAN, Auteur ; Emily SIMONOFF, Auteur ; Edmund SONUGA-BARKE, Auteur . - p.1062-1076. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1062-1076 Mots-clés : autism  early adversity  institutional deprivation  longitudinal  Romanian adoptees Index. décimale : PER Périodiques Résumé : ABSTRACT In the English and Romanian Adoptees study, a substantial proportion of adoptees who suffered extended severe deprivation (26 of 101) displayed autistic characteristics termed quasi-autism (QA). Here we directly compare this group with a community sample of early diagnosed autistic individuals (community autism; CA). First, we characterized the QA autism symptom profile (61.5% females) by calculating which of the 32 Social Communication Questionnaire (SCQ) items were statistically more common in the QA group than in a control group of 52 non-deprived UK adoptees (UK Control, 34.6% females) at ages 11, 15, and/or 23?years of age. The latent structure of these QA-characteristic items was explored using confirmatory factor analyses. Second, we compared the QA symptom profiles with CA profiles using a sample from the QUEST study (Salazar et al. 2015). To do this, we identified two QUEST groups, one aged 11?years on average (n?=?21) and one aged 15?years (n?=?24). The former were compared to ERA SCQ scores at age 11, and the latter at age 15. Nineteen SCQ items were statistically significantly more common in the QA group than in the ERA UK control group at ages 11 and 15. Ten differences persisted into adulthood. These QA-characteristic items ranged across and mapped onto all three standard SCQ domains (social reciprocity, communication, repetitive and stereotyped behaviors). The age 11 CA group scored higher than QA at 11?years across each subscale when all items were considered. However, when only QA-characteristic items were included, only scores for the Repetitive and Stereotyped subscale differentiated QA and CA. When the age 15 comparison was made, no differences were found between CA and QA subscales. QA and CA were associated with similar levels of emotional and conduct problems and overactivity/inattention levels. QA shared many features with CA. QA difficulties extended across all autism domains and were associated to a similar degree with emotional and behavioral problems. However, there were some distinctive elements. Compared to the classic autism profile, the communication domain mainly comprised persistent abnormalities of linguistic expression. In contrast, social reciprocity problems were diffuse, less severe, and declined over time. QA-characteristic repetitive and stereotyped behaviors are broadly expressed and endure into adulthood. En ligne : https://doi.org/10.1002/aur.70026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Epidemiology of Alzheimer Disease and Related Dementia Among Medicare and Medicaid Enrolled Autistic Adults, 2011-2019 / Samuel B. ROSENBERG ; Josue Antonio G. ESTRADA ; Marcia Pescador JIMENEZ ; Ashley SCOTT ; Alianna HIGGINS ; Eric RUBENSTEIN in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1077-1086 Titre : Epidemiology of Alzheimer Disease and Related Dementia Among Medicare and Medicaid Enrolled Autistic Adults, 2011-2019 Type de document : Texte imprimé et/ou numérique Auteurs : Samuel B. ROSENBERG, Auteur ; Josue Antonio G. ESTRADA, Auteur ; Marcia Pescador JIMENEZ, Auteur ; Ashley SCOTT, Auteur ; Alianna HIGGINS, Auteur ; Eric RUBENSTEIN, Auteur Article en page(s) : p.1077-1086 Langues : Anglais (eng) Mots-clés : Alzheimer disease  autism  dementia  disparity  epidemiology  intellectual disability  medicaid  medicare Index. décimale : PER Périodiques Résumé : ABSTRACT Alzheimer's disease and related dementias (ADRD) are burdensome and lethal conditions that have been hypothesized to be related to autism through shared genetic etiologies and environmental risk factors. Our objective was to use longitudinal Medicaid and Medicare data to describe the epidemiology of ADRD in publicly insured autistic adults. We used all claims and encounters from 2011 to 2019 to identify autism and ADRD. We calculated prevalence, incidence, age at onset, and created survival curves. There were 90,229 autistic adults ??30?years of age and enrolled for at least 1?year in Medicaid and/or Medicare and 267 ADRD cases. Prevalence of ADRD was 2.09% (95% CI: 1.99%, 2.20%) in 2011 and 8.11% (95% CI: 7.92%, 8.30%) in 2019. Mean age at ADRD onset was 59.3?years (SD: 14.2). Mean age among men was 58.3?years (SD: 13.8) and 61.0?years among females. Incidence of ADRD was higher in autistic adults with intellectual disability with no difference by sex. ADRD is a prevalent condition in middle- and older-aged adults identified with autism in the Medicaid and Medicare system. Understanding the diagnostic process and phenotype of ADRD will be important to improve identification and treatment. En ligne : https://doi.org/10.1002/aur.70035 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Epidemiology of Alzheimer Disease and Related Dementia Among Medicare and Medicaid Enrolled Autistic Adults, 2011-2019 [Texte imprimé et/ou numérique] / Samuel B. ROSENBERG, Auteur ; Josue Antonio G. ESTRADA, Auteur ; Marcia Pescador JIMENEZ, Auteur ; Ashley SCOTT, Auteur ; Alianna HIGGINS, Auteur ; Eric RUBENSTEIN, Auteur . - p.1077-1086. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1077-1086 Mots-clés : Alzheimer disease  autism  dementia  disparity  epidemiology  intellectual disability  medicaid  medicare Index. décimale : PER Périodiques Résumé : ABSTRACT Alzheimer's disease and related dementias (ADRD) are burdensome and lethal conditions that have been hypothesized to be related to autism through shared genetic etiologies and environmental risk factors. Our objective was to use longitudinal Medicaid and Medicare data to describe the epidemiology of ADRD in publicly insured autistic adults. We used all claims and encounters from 2011 to 2019 to identify autism and ADRD. We calculated prevalence, incidence, age at onset, and created survival curves. There were 90,229 autistic adults ??30?years of age and enrolled for at least 1?year in Medicaid and/or Medicare and 267 ADRD cases. Prevalence of ADRD was 2.09% (95% CI: 1.99%, 2.20%) in 2011 and 8.11% (95% CI: 7.92%, 8.30%) in 2019. Mean age at ADRD onset was 59.3?years (SD: 14.2). Mean age among men was 58.3?years (SD: 13.8) and 61.0?years among females. Incidence of ADRD was higher in autistic adults with intellectual disability with no difference by sex. ADRD is a prevalent condition in middle- and older-aged adults identified with autism in the Medicaid and Medicare system. Understanding the diagnostic process and phenotype of ADRD will be important to improve identification and treatment. En ligne : https://doi.org/10.1002/aur.70035 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Prenatal Maternal Alcohol Exposure During the First Trimester of Pregnancy in Relation to Early Learning Ability, Behavioral Problems, and Autistic Traits in Preschool Children With or Without Autism Spectrum Disorder / Brain BARGER ; Karen PAZOL ; Laura A. SCHIEVE ; Jacquelyn BERTRAND ; Carolyn DIGUISEPPI ; April D. SUMMERS ; Alicia DUNAJCIK ; Lucinda ENGLAND ; Tessa L. CRUME ; Lisa D. WIGGINS in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1087-1096 Titre : Prenatal Maternal Alcohol Exposure During the First Trimester of Pregnancy in Relation to Early Learning Ability, Behavioral Problems, and Autistic Traits in Preschool Children With or Without Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Brain BARGER, Auteur ; Karen PAZOL, Auteur ; Laura A. SCHIEVE, Auteur ; Jacquelyn BERTRAND, Auteur ; Carolyn DIGUISEPPI, Auteur ; April D. SUMMERS, Auteur ; Alicia DUNAJCIK, Auteur ; Lucinda ENGLAND, Auteur ; Tessa L. CRUME, Auteur ; Lisa D. WIGGINS, Auteur Article en page(s) : p.1087-1096 Langues : Anglais (eng) Mots-clés : alcohol  autism  behaviors  learning delays  neurodevelopment Index. décimale : PER Périodiques Résumé : ABSTRACT Prenatal alcohol exposure has been linked to adverse neurodevelopmental outcomes. However, its effects on developmental outcomes in children with autism spectrum disorder (ASD) remain unclear. We examined associations between prenatal alcohol exposure during the first trimester (PAE-FT) and early learning ability, behavioral problems, and severity of autistic traits in preschool-aged children in a large multi-site case?control study, the Study to Explore Early Development. Children were classified as ASD (n?=?1237) or population comparison without ASD (POP, n?=?1334) after an in-person assessment covering cognitive abilities and detailed autistic traits. Mothers completed questionnaires on their child's behavior and autism-related traits, as well as their alcohol use during pregnancy. Of children in the ASD and POP groups, 18.5% and 20.2%, respectively, were exposed to PAE-FT. Exposure to 3 or more alcoholic drinks per week was associated with increased externalizing behaviors (i.e., attention deficits and aggressive behaviors) in children in both the ASD and POP groups, and with exacerbated social communication and interaction deficits in children with ASD only. First trimester exposure to 1?2 alcoholic drinks per week was associated with early learning delays for children in the ASD group, but not the POP group. As expected, our findings suggest that PAE-FT is associated with adverse behavioral development of children regardless of ASD status. However, PAE-FT may exacerbate autism-specific developmental problems and learning difficulties in children with ASD. Gathering a prenatal alcohol exposure history for children with and without ASD could contribute to a better understanding of developmental trajectories, aiding informed decisions for interventions and support. En ligne : https://doi.org/10.1002/aur.70025 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Prenatal Maternal Alcohol Exposure During the First Trimester of Pregnancy in Relation to Early Learning Ability, Behavioral Problems, and Autistic Traits in Preschool Children With or Without Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Brain BARGER, Auteur ; Karen PAZOL, Auteur ; Laura A. SCHIEVE, Auteur ; Jacquelyn BERTRAND, Auteur ; Carolyn DIGUISEPPI, Auteur ; April D. SUMMERS, Auteur ; Alicia DUNAJCIK, Auteur ; Lucinda ENGLAND, Auteur ; Tessa L. CRUME, Auteur ; Lisa D. WIGGINS, Auteur . - p.1087-1096. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1087-1096 Mots-clés : alcohol  autism  behaviors  learning delays  neurodevelopment Index. décimale : PER Périodiques Résumé : ABSTRACT Prenatal alcohol exposure has been linked to adverse neurodevelopmental outcomes. However, its effects on developmental outcomes in children with autism spectrum disorder (ASD) remain unclear. We examined associations between prenatal alcohol exposure during the first trimester (PAE-FT) and early learning ability, behavioral problems, and severity of autistic traits in preschool-aged children in a large multi-site case?control study, the Study to Explore Early Development. Children were classified as ASD (n?=?1237) or population comparison without ASD (POP, n?=?1334) after an in-person assessment covering cognitive abilities and detailed autistic traits. Mothers completed questionnaires on their child's behavior and autism-related traits, as well as their alcohol use during pregnancy. Of children in the ASD and POP groups, 18.5% and 20.2%, respectively, were exposed to PAE-FT. Exposure to 3 or more alcoholic drinks per week was associated with increased externalizing behaviors (i.e., attention deficits and aggressive behaviors) in children in both the ASD and POP groups, and with exacerbated social communication and interaction deficits in children with ASD only. First trimester exposure to 1?2 alcoholic drinks per week was associated with early learning delays for children in the ASD group, but not the POP group. As expected, our findings suggest that PAE-FT is associated with adverse behavioral development of children regardless of ASD status. However, PAE-FT may exacerbate autism-specific developmental problems and learning difficulties in children with ASD. Gathering a prenatal alcohol exposure history for children with and without ASD could contribute to a better understanding of developmental trajectories, aiding informed decisions for interventions and support. En ligne : https://doi.org/10.1002/aur.70025 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Missed Early Intervention Opportunities for Children With Autism Spectrum Disorder / Daniel E. LIDSTONE in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1097-1103 Titre : Missed Early Intervention Opportunities for Children With Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Daniel E. LIDSTONE, Auteur Article en page(s) : p.1097-1103 Langues : Anglais (eng) Mots-clés : autism spectrum disorder (ASD)  early intervention programs  health equity  Individuals with Disabilities Education Act (IDEA)  public health policy  socioeconomic disparities Index. décimale : PER Périodiques Résumé : ABSTRACT Early intervention (EI) is essential for improving developmental outcomes in children with autism spectrum disorder (ASD). However, participation during the critical neurodevelopmental (0?3?years) period remains a challenge. To identify those factors associated with the participation of preschool children with ASD in EI before age 2, this study uses recent cross-sectional data from the 2021 to 2023 National Survey of Children's Health (NSCH). Binary logistical regression analysis was conducted to identify factors associated with EI receipt before age 2, including age of ASD diagnosis, socioeconomic status (SES), race, ASD severity, biological sex, birth weight, and diagnosis of early indicators of future developmental delay (DD). The findings revealed that only 15% of preschool children with ASD received EI before age 2. Significant predictors of timely participation in Part C EI included an ASD diagnosis before age 2, higher SES, and lower birth weight. Findings also revealed that 15.5% of children who did not receive timely EI had severe ASD symptoms, highlighting the critical need to improve EI participation for these children. Potential solutions discussed include expanding the definition of DD, increasing the number of states recognizing low birth weight as a Part C EI diagnosis, reducing barriers to Part C EI participation for disadvantaged families, and developing more effective tools to detect ASD and DD earlier in development. En ligne : https://doi.org/10.1002/aur.70043 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Missed Early Intervention Opportunities for Children With Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Daniel E. LIDSTONE, Auteur . - p.1097-1103. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1097-1103 Mots-clés : autism spectrum disorder (ASD)  early intervention programs  health equity  Individuals with Disabilities Education Act (IDEA)  public health policy  socioeconomic disparities Index. décimale : PER Périodiques Résumé : ABSTRACT Early intervention (EI) is essential for improving developmental outcomes in children with autism spectrum disorder (ASD). However, participation during the critical neurodevelopmental (0?3?years) period remains a challenge. To identify those factors associated with the participation of preschool children with ASD in EI before age 2, this study uses recent cross-sectional data from the 2021 to 2023 National Survey of Children's Health (NSCH). Binary logistical regression analysis was conducted to identify factors associated with EI receipt before age 2, including age of ASD diagnosis, socioeconomic status (SES), race, ASD severity, biological sex, birth weight, and diagnosis of early indicators of future developmental delay (DD). The findings revealed that only 15% of preschool children with ASD received EI before age 2. Significant predictors of timely participation in Part C EI included an ASD diagnosis before age 2, higher SES, and lower birth weight. Findings also revealed that 15.5% of children who did not receive timely EI had severe ASD symptoms, highlighting the critical need to improve EI participation for these children. Potential solutions discussed include expanding the definition of DD, increasing the number of states recognizing low birth weight as a Part C EI diagnosis, reducing barriers to Part C EI participation for disadvantaged families, and developing more effective tools to detect ASD and DD earlier in development. En ligne : https://doi.org/10.1002/aur.70043 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Infant Achievements Intervention Improves Caregiver Implementation Fidelity and Infant Social Communication Outcomes: A Preliminary Randomized Clinical Trial / Rachel REETZKE ; Christine Reiner HESS in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.1104-1116 Titre : Infant Achievements Intervention Improves Caregiver Implementation Fidelity and Infant Social Communication Outcomes: A Preliminary Randomized Clinical Trial Type de document : Texte imprimé et/ou numérique Auteurs : Rachel REETZKE, Auteur ; Christine Reiner HESS, Auteur Article en page(s) : p.1104-1116 Langues : Anglais (eng) Mots-clés : caregiver  communication  delay  infants  intervention  randomized controlled trial  social Index. décimale : PER Périodiques Résumé : ABSTRACT Randomized controlled trials (RCTs) focused on idiopathic social communication delay (SCD) in the first year of life are rare. We preliminarily tested the efficacy of an 8-week caregiver-implemented intervention for infants with idiopathic SCD. Infants (8?12?months) with SCD were block-randomized with caregivers to the Infant Achievements (IA) (n?=?18) or Caregiver Education (CE) (n?=?20) group in this assessor-masked RCT. Assessments were completed at baseline, post-intervention, and 8-week follow-up. IA caregivers received reflective, home-based coaching to implement naturalistic developmental behavioral intervention (NDBI) strategies. Primary outcomes: masked ratings of caregiver implementation fidelity, frequency of infant initiation of joint attention (IJA), and percent of coordination of joint engagement (CJE). Secondary outcomes: masked researcher-administered and scored Mullen Scales of Early Learning (MSEL) language and Visual Reception scaled scores; nonmasked caregiver-reported Communication and Symbolic Behavior Scales Caregiver Questionnaire (CSBS CQ) Social, Speech, and Symbolic composite scores and McArthur-Bates Communication Development Inventories Words Understood and Produced scores. Prespecified analyses followed an intent-to-treat approach using Generalized Linear Mixed Models for non-normally distributed outcomes and linear mixed-effects models for those with normal distributions. Significant group by time effects favored the IA group relative to the CE group on all primary outcomes at post-intervention (p's???0.001), and for caregiver fidelity and IJA, at follow-up (??0.03). Significant IA intervention effects were detected on secondary outcomes of nonverbal cognition (MSEL Visual Reception) and CSBS CQ Speech composite at post-intervention ( En ligne : https://doi.org/10.1002/aur.70051 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Infant Achievements Intervention Improves Caregiver Implementation Fidelity and Infant Social Communication Outcomes: A Preliminary Randomized Clinical Trial [Texte imprimé et/ou numérique] / Rachel REETZKE, Auteur ; Christine Reiner HESS, Auteur . - p.1104-1116. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.1104-1116 Mots-clés : caregiver  communication  delay  infants  intervention  randomized controlled trial  social Index. décimale : PER Périodiques Résumé : ABSTRACT Randomized controlled trials (RCTs) focused on idiopathic social communication delay (SCD) in the first year of life are rare. We preliminarily tested the efficacy of an 8-week caregiver-implemented intervention for infants with idiopathic SCD. Infants (8?12?months) with SCD were block-randomized with caregivers to the Infant Achievements (IA) (n?=?18) or Caregiver Education (CE) (n?=?20) group in this assessor-masked RCT. Assessments were completed at baseline, post-intervention, and 8-week follow-up. IA caregivers received reflective, home-based coaching to implement naturalistic developmental behavioral intervention (NDBI) strategies. Primary outcomes: masked ratings of caregiver implementation fidelity, frequency of infant initiation of joint attention (IJA), and percent of coordination of joint engagement (CJE). Secondary outcomes: masked researcher-administered and scored Mullen Scales of Early Learning (MSEL) language and Visual Reception scaled scores; nonmasked caregiver-reported Communication and Symbolic Behavior Scales Caregiver Questionnaire (CSBS CQ) Social, Speech, and Symbolic composite scores and McArthur-Bates Communication Development Inventories Words Understood and Produced scores. Prespecified analyses followed an intent-to-treat approach using Generalized Linear Mixed Models for non-normally distributed outcomes and linear mixed-effects models for those with normal distributions. Significant group by time effects favored the IA group relative to the CE group on all primary outcomes at post-intervention (p's???0.001), and for caregiver fidelity and IJA, at follow-up (??0.03). Significant IA intervention effects were detected on secondary outcomes of nonverbal cognition (MSEL Visual Reception) and CSBS CQ Speech composite at post-intervention ( En ligne : https://doi.org/10.1002/aur.70051 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558