Common Gut Microbial Signatures in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder / Chao CHE ; Dong LI ; Xiaoli LI ; Xiaoxiao YU ; Lianhu YU ; Qin SUN ; Yaofang NIU ; Aihua CAO in Autism Research, 18-4 (April 2025)  

Public ISBD [article]  inAutism Research > 18-4 (April 2025) . - p.741-751 Titre : Common Gut Microbial Signatures in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Type de document : texte imprimé Auteurs : Chao CHE, Auteur ; Dong LI, Auteur ; Xiaoli LI, Auteur ; Xiaoxiao YU, Auteur ; Lianhu YU, Auteur ; Qin SUN, Auteur ; Yaofang NIU, Auteur ; Aihua CAO, Auteur Article en page(s) : p.741-751 Langues : Anglais (eng) Mots-clés : 16S rRNA sequencing  attention deficit hyperactivity disorder  autism spectrum disorder  gut microbiota  metabolic functions Index. décimale : PER Périodiques Résumé : ABSTRACT The potential etiological and diagnostic values of the gut microbiota in children with neurodevelopmental disorders are encouraging but controversial. In particular, the composition and characteristics of the gut microbiota in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) remain largely unidentified. Herein, we analyzed stool samples from 113 participants with a clinical diagnosis of ASD, 43 with ADHD, 8 with both ASD and ADHD, and 120 healthy controls between 2 and 11 years of age using 16S rRNA sequencing. We observed that clinical diagnosis, age, comorbidities, food sensitivities, and antibiotic use significantly affected the gut microbiota. The enriched genera in the control group were relatively common and dominant human gut bacteria, such as Bacteroides, Faecalibacterium, and Roseburia. The genera present in children with neurodevelopmental disorders showed greater heterogeneity, and the abundance of Bifidobacterium was consistently increased. We found 4899 deregulated microbial metabolic functions and revealed the formation of a divergent genus-level network in patients. This analysis demonstrated that the gut microbial signatures efficiently discriminated patients from healthy participants in both the discovery (area under the curve [AUC]: 0.95 0.98) and validation (AUC: 0.69 0.74) sets. Importantly, although ASD and ADHD share several gut microbial characteristics, specific bacteria that contribute to the disease pathogenesis may have different metabolic functions. En ligne : https://doi.org/10.1002/aur.70016 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=554 [article] Common Gut Microbial Signatures in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder [texte imprimé] / Chao CHE, Auteur ; Dong LI, Auteur ; Xiaoli LI, Auteur ; Xiaoxiao YU, Auteur ; Lianhu YU, Auteur ; Qin SUN, Auteur ; Yaofang NIU, Auteur ; Aihua CAO, Auteur . - p.741-751. Langues : Anglais (eng) in Autism Research > 18-4 (April 2025) . - p.741-751 Mots-clés : 16S rRNA sequencing  attention deficit hyperactivity disorder  autism spectrum disorder  gut microbiota  metabolic functions Index. décimale : PER Périodiques Résumé : ABSTRACT The potential etiological and diagnostic values of the gut microbiota in children with neurodevelopmental disorders are encouraging but controversial. In particular, the composition and characteristics of the gut microbiota in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) remain largely unidentified. Herein, we analyzed stool samples from 113 participants with a clinical diagnosis of ASD, 43 with ADHD, 8 with both ASD and ADHD, and 120 healthy controls between 2 and 11 years of age using 16S rRNA sequencing. We observed that clinical diagnosis, age, comorbidities, food sensitivities, and antibiotic use significantly affected the gut microbiota. The enriched genera in the control group were relatively common and dominant human gut bacteria, such as Bacteroides, Faecalibacterium, and Roseburia. The genera present in children with neurodevelopmental disorders showed greater heterogeneity, and the abundance of Bifidobacterium was consistently increased. We found 4899 deregulated microbial metabolic functions and revealed the formation of a divergent genus-level network in patients. This analysis demonstrated that the gut microbial signatures efficiently discriminated patients from healthy participants in both the discovery (area under the curve [AUC]: 0.95 0.98) and validation (AUC: 0.69 0.74) sets. Importantly, although ASD and ADHD share several gut microbial characteristics, specific bacteria that contribute to the disease pathogenesis may have different metabolic functions. En ligne : https://doi.org/10.1002/aur.70016 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=554

Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation / Christine W. NORDAHL in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.20 Titre : Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation Type de document : texte imprimé Auteurs : Christine W. NORDAHL, Auteur ; M. MELLO, Auteur ; Audrey M. SHEN, Auteur ; Mark D. SHEN, Auteur ; Laurie A. VISMARA, Auteur ; Dong LI, Auteur ; K. HARRINGTON, Auteur ; C. TANASE, Auteur ; Beth GOODLIN-JONES, Auteur ; Sally J. ROGERS, Auteur ; Leonard ABBEDUTO, Auteur ; David G. AMARAL, Auteur Article en page(s) : p.20 Langues : Anglais (eng) Mots-clés : Applied behavior analysis  Brain  Compliance  Intellectual disability  Low-functioning autism  Mri  Neurodevelopment Index. décimale : PER Périodiques Résumé : BACKGROUND: Magnetic resonance imaging (MRI) has been widely used in studies evaluating the neuropathology of autism spectrum disorder (ASD). Studies are often limited, however, to higher functioning individuals with ASD. MRI studies of individuals with ASD and comorbid intellectual disability (ID) are lacking, due in part to the challenges of acquiring images without the use of sedation. METHODS: Utilizing principles of applied behavior analysis (ABA), we developed a protocol for acquiring structural MRI scans in school-aged children with ASD and intellectual impairment. Board certified behavior analysts worked closely with each child and their parent(s), utilizing behavior change techniques such as pairing, shaping, desensitization, and positive reinforcement, through a series of mock scanner visits to prepare the child for the MRI scan. An objective, quantitative assessment of motion artifact in T1- and diffusion-weighted scans was implemented to ensure that high-quality images were acquired. RESULTS: The sample consisted of 17 children with ASD who are participants in the UC Davis Autism Phenome Project, a longitudinal MRI study aimed at evaluating brain developmental trajectories from early to middle childhood. At the time of their initial scan (2-3.5 years), all 17 children had a diagnosis of ASD and development quotient (DQ) <70. At the time of the current scan (9-13 years), 13 participants continued to have IQs in the range of ID (mean IQ = 54.1, sd = 12.1), and four participants had IQs in the normal range (mean = 102.2, sd = 7.5). The success rate in acquiring T1-weighted images that met quality assurance for acceptable motion artifact was 100 %. The success rate for acquiring high-quality diffusion-weighted images was 94 %. CONCLUSIONS: By using principles of ABA in a research MRI setting, it is feasible to acquire high-quality images in school-aged children with ASD and intellectual impairment without the use of sedation. This is especially critical to ensure that ongoing longitudinal studies of brain development can extend from infancy and early childhood into middle childhood in children with ASD at all levels of functioning, including those with comorbid ID. En ligne : http://dx.doi.org/10.1186/s11689-016-9154-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation [texte imprimé] / Christine W. NORDAHL, Auteur ; M. MELLO, Auteur ; Audrey M. SHEN, Auteur ; Mark D. SHEN, Auteur ; Laurie A. VISMARA, Auteur ; Dong LI, Auteur ; K. HARRINGTON, Auteur ; C. TANASE, Auteur ; Beth GOODLIN-JONES, Auteur ; Sally J. ROGERS, Auteur ; Leonard ABBEDUTO, Auteur ; David G. AMARAL, Auteur . - p.20. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.20 Mots-clés : Applied behavior analysis  Brain  Compliance  Intellectual disability  Low-functioning autism  Mri  Neurodevelopment Index. décimale : PER Périodiques Résumé : BACKGROUND: Magnetic resonance imaging (MRI) has been widely used in studies evaluating the neuropathology of autism spectrum disorder (ASD). Studies are often limited, however, to higher functioning individuals with ASD. MRI studies of individuals with ASD and comorbid intellectual disability (ID) are lacking, due in part to the challenges of acquiring images without the use of sedation. METHODS: Utilizing principles of applied behavior analysis (ABA), we developed a protocol for acquiring structural MRI scans in school-aged children with ASD and intellectual impairment. Board certified behavior analysts worked closely with each child and their parent(s), utilizing behavior change techniques such as pairing, shaping, desensitization, and positive reinforcement, through a series of mock scanner visits to prepare the child for the MRI scan. An objective, quantitative assessment of motion artifact in T1- and diffusion-weighted scans was implemented to ensure that high-quality images were acquired. RESULTS: The sample consisted of 17 children with ASD who are participants in the UC Davis Autism Phenome Project, a longitudinal MRI study aimed at evaluating brain developmental trajectories from early to middle childhood. At the time of their initial scan (2-3.5 years), all 17 children had a diagnosis of ASD and development quotient (DQ) <70. At the time of the current scan (9-13 years), 13 participants continued to have IQs in the range of ID (mean IQ = 54.1, sd = 12.1), and four participants had IQs in the normal range (mean = 102.2, sd = 7.5). The success rate in acquiring T1-weighted images that met quality assurance for acceptable motion artifact was 100 %. The success rate for acquiring high-quality diffusion-weighted images was 94 %. CONCLUSIONS: By using principles of ABA in a research MRI setting, it is feasible to acquire high-quality images in school-aged children with ASD and intellectual impairment without the use of sedation. This is especially critical to ensure that ongoing longitudinal studies of brain development can extend from infancy and early childhood into middle childhood in children with ASD at all levels of functioning, including those with comorbid ID. En ligne : http://dx.doi.org/10.1186/s11689-016-9154-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures / Beryl ROYER-BERTRAND in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 69 p. Titre : De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures Type de document : texte imprimé Auteurs : Beryl ROYER-BERTRAND, Auteur ; Marine JEQUIER GYGAX, Auteur ; Katarina CISAROVA, Auteur ; Jill A. ROSENFELD, Auteur ; Jennifer A. BASSETTI, Auteur ; Oana MOLDOVAN, Auteur ; Emily O'HEIR, Auteur ; Lindsay C. BURRAGE, Auteur ; Jake ALLEN, Auteur ; Lisa T. EMRICK, Auteur ; Emma EASTMAN, Auteur ; Camille KUMPS, Auteur ; Safdar ABBAS, Auteur ; Geraldine VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; Elaine H. ZACKAI, Auteur ; Sebastien LEBON, Auteur ; Beth KEENA, Auteur ; Elizabeth J. BHOJ, Auteur ; Muhammad UMAIR, Auteur ; Dong LI, Auteur ; Kirsten A. DONALD, Auteur ; Andrea SUPERTI-FURGA, Auteur Article en page(s) : 69 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Cacna1e  Developmental regression  Epilepsy  Exome sequencing  Global developmental delay  Intellectual disability  Neurodevelopmental disorders  Seizures  Topiramate  receives revenue from clinical genetic testing completed at Baylor Genetics  Laboratories. Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. RESULTS: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. LIMITATIONS: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. CONCLUSIONS: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. En ligne : http://dx.doi.org/10.1186/s13229-021-00473-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures [texte imprimé] / Beryl ROYER-BERTRAND, Auteur ; Marine JEQUIER GYGAX, Auteur ; Katarina CISAROVA, Auteur ; Jill A. ROSENFELD, Auteur ; Jennifer A. BASSETTI, Auteur ; Oana MOLDOVAN, Auteur ; Emily O'HEIR, Auteur ; Lindsay C. BURRAGE, Auteur ; Jake ALLEN, Auteur ; Lisa T. EMRICK, Auteur ; Emma EASTMAN, Auteur ; Camille KUMPS, Auteur ; Safdar ABBAS, Auteur ; Geraldine VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; Elaine H. ZACKAI, Auteur ; Sebastien LEBON, Auteur ; Beth KEENA, Auteur ; Elizabeth J. BHOJ, Auteur ; Muhammad UMAIR, Auteur ; Dong LI, Auteur ; Kirsten A. DONALD, Auteur ; Andrea SUPERTI-FURGA, Auteur . - 69 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 69 p. Mots-clés : Autism spectrum disorder  Cacna1e  Developmental regression  Epilepsy  Exome sequencing  Global developmental delay  Intellectual disability  Neurodevelopmental disorders  Seizures  Topiramate  receives revenue from clinical genetic testing completed at Baylor Genetics  Laboratories. Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. RESULTS: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. LIMITATIONS: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. CONCLUSIONS: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. En ligne : http://dx.doi.org/10.1186/s13229-021-00473-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Reliability of parent recall of symptom onset and timing in autism spectrum disorder / Sally OZONOFF in Autism, 22-7 (October 2018)  

Public ISBD [article]  inAutism > 22-7 (October 2018) . - p.891-896 Titre : Reliability of parent recall of symptom onset and timing in autism spectrum disorder Type de document : texte imprimé Auteurs : Sally OZONOFF, Auteur ; Dong LI, Auteur ; Lesley DEPREY, Auteur ; Elise P. HANZEL, Auteur ; Ana-Maria IOSIF, Auteur Article en page(s) : p.891-896 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  onset  parent report  regression Index. décimale : PER Périodiques Résumé : Past events are often reported as occurring more recently than they actually took place, an error called forward telescoping. This study examined whether forward telescoping was evident in parent reports of autism spectrum disorder symptom emergence and onset classification. Parents were interviewed when their child was 2-3 years old (Time 1) and approximately 6 years old (Time 2). Significant forward telescoping was found in both age of social regression and age when language milestones were achieved, but not age of language regression. The correspondence between Time 1 and Time 2 onset report was low ( kappa = 0.38). Approximately one-quarter of the sample changed onset categories, most often due to parents not recalling a regression at Time 2 that they had reported at Time 1. These results challenge the use of retrospective methods in determining onset patterns. En ligne : http://dx.doi.org/10.1177/1362361317710798 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370 [article] Reliability of parent recall of symptom onset and timing in autism spectrum disorder [texte imprimé] / Sally OZONOFF, Auteur ; Dong LI, Auteur ; Lesley DEPREY, Auteur ; Elise P. HANZEL, Auteur ; Ana-Maria IOSIF, Auteur . - p.891-896. Langues : Anglais (eng) in Autism > 22-7 (October 2018) . - p.891-896 Mots-clés : autism spectrum disorder  onset  parent report  regression Index. décimale : PER Périodiques Résumé : Past events are often reported as occurring more recently than they actually took place, an error called forward telescoping. This study examined whether forward telescoping was evident in parent reports of autism spectrum disorder symptom emergence and onset classification. Parents were interviewed when their child was 2-3 years old (Time 1) and approximately 6 years old (Time 2). Significant forward telescoping was found in both age of social regression and age when language milestones were achieved, but not age of language regression. The correspondence between Time 1 and Time 2 onset report was low ( kappa = 0.38). Approximately one-quarter of the sample changed onset categories, most often due to parents not recalling a regression at Time 2 that they had reported at Time 1. These results challenge the use of retrospective methods in determining onset patterns. En ligne : http://dx.doi.org/10.1177/1362361317710798 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370

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