9 recherche sur le mot-clé 'Competing interests: The authors declare no competing interests.'

Acceptability and safety of a probiotic beverage supplementation (Bio-K +) and feasibility of the proposed protocol in children with a diagnosis of autism spectrum disorder / Ghizlane GAOUGAOU in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Acceptability and safety of a probiotic beverage supplementation (Bio-K +) and feasibility of the proposed protocol in children with a diagnosis of autism spectrum disorder Type de document : texte imprimé Auteurs : Ghizlane GAOUGAOU, Auteur ; Riham ZAHRA, Auteur ; Sophia MOREL, Auteur ; Véronique BÉLANGER, Auteur ; Inga Sophia KNOTH, Auteur ; Dominique COUSINEAU, Auteur ; Baudouin Forgeot D'ARC, Auteur ; Kelly GRZYWACZ, Auteur ; Guy ROUSSEAU, Auteur ; Eric DÉZIEL, Auteur ; Roger GODBOUT, Auteur ; Sarah LIPPE, Auteur ; Mathieu MILLETTE, Auteur ; Valérie MARCIL, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/diet therapy/complications  Probiotics/administration & dosage/adverse effects/therapeutic use  Male  Child  Female  Child, Preschool  Feasibility Studies  Gastrointestinal Diseases  Sleep Wake Disorders  Dietary Supplements  Beverages  Patient Acceptance of Health Care  Acceptability  Autism spectrum disorders  Autistic symptoms  Children  Feasibility  Gastrointestinal symptoms  Probiotics  Safety  Sleep disorder  by the ethics review board of the CHU Sainte-Justine (#2021–3412). Informed  consent was obtained from all participants and parents involved in the study.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders defined by stereotyped behavior and challenges in social communication and social interaction. ASD is associated with various comorbidities, including anxiety, gastrointestinal (GI) symptoms and sleep disorders. Evidence supports an association between intestinal dysbiosis and the severity of ASD-related symptoms. Probiotic intake was suggested to restore microbial homeostasis and decrease neurobehavioral, GI and sleep symptoms in individuals diagnosed with autism. METHODS: This study aims to evaluate the acceptability and safety of a Bio-K + probiotics beverage in autistic children aged 4 to 11 years and the feasibility of the proposed research protocol to measure its impact on behaviors and comorbidities. The 30-week study consisted of daily supplementation with Bio-K + probiotics for 14 weeks. Acceptability and safety were monitored throughout the study. Feasibility was assessed by comparing recruitment and completion rates to pre-established thresholds. Preliminary impact of supplementation on behaviors (Autism Treatment Evaluation Checklist (ATEC) score), GI symptoms and sleep disorders was evaluated. RESULTS: Of the 23 children recruited (mean age 6.7 ± 2.2 years, 70% males), 65% had GI problems and 91% had sleep disorders. Probiotic supplementation was accepted by all participants and no product-related adverse event was reported. Feasibility rates exceeded pre-established thresholds for almost all study outcomes including recruitment rate, compliance, electroencephalography, actigraphy and completion of questionnaires. Preliminary data suggest an improvement in behaviors associated with autism assessed with the total ATEC score, and in GI symptoms and sleep disorders. CONCLUSION: This study demonstrates probiotic beverage acceptability and safety and protocol feasibility in autistic children. To further support our data, a double-blinded placebo-controlled study is needed to determine its efficacy. En ligne : https://dx.doi.org/10.1186/s11689-025-09617-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Acceptability and safety of a probiotic beverage supplementation (Bio-K +) and feasibility of the proposed protocol in children with a diagnosis of autism spectrum disorder [texte imprimé] / Ghizlane GAOUGAOU, Auteur ; Riham ZAHRA, Auteur ; Sophia MOREL, Auteur ; Véronique BÉLANGER, Auteur ; Inga Sophia KNOTH, Auteur ; Dominique COUSINEAU, Auteur ; Baudouin Forgeot D'ARC, Auteur ; Kelly GRZYWACZ, Auteur ; Guy ROUSSEAU, Auteur ; Eric DÉZIEL, Auteur ; Roger GODBOUT, Auteur ; Sarah LIPPE, Auteur ; Mathieu MILLETTE, Auteur ; Valérie MARCIL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Autism Spectrum Disorder/diet therapy/complications  Probiotics/administration & dosage/adverse effects/therapeutic use  Male  Child  Female  Child, Preschool  Feasibility Studies  Gastrointestinal Diseases  Sleep Wake Disorders  Dietary Supplements  Beverages  Patient Acceptance of Health Care  Acceptability  Autism spectrum disorders  Autistic symptoms  Children  Feasibility  Gastrointestinal symptoms  Probiotics  Safety  Sleep disorder  by the ethics review board of the CHU Sainte-Justine (#2021–3412). Informed  consent was obtained from all participants and parents involved in the study.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders defined by stereotyped behavior and challenges in social communication and social interaction. ASD is associated with various comorbidities, including anxiety, gastrointestinal (GI) symptoms and sleep disorders. Evidence supports an association between intestinal dysbiosis and the severity of ASD-related symptoms. Probiotic intake was suggested to restore microbial homeostasis and decrease neurobehavioral, GI and sleep symptoms in individuals diagnosed with autism. METHODS: This study aims to evaluate the acceptability and safety of a Bio-K + probiotics beverage in autistic children aged 4 to 11 years and the feasibility of the proposed research protocol to measure its impact on behaviors and comorbidities. The 30-week study consisted of daily supplementation with Bio-K + probiotics for 14 weeks. Acceptability and safety were monitored throughout the study. Feasibility was assessed by comparing recruitment and completion rates to pre-established thresholds. Preliminary impact of supplementation on behaviors (Autism Treatment Evaluation Checklist (ATEC) score), GI symptoms and sleep disorders was evaluated. RESULTS: Of the 23 children recruited (mean age 6.7 ± 2.2 years, 70% males), 65% had GI problems and 91% had sleep disorders. Probiotic supplementation was accepted by all participants and no product-related adverse event was reported. Feasibility rates exceeded pre-established thresholds for almost all study outcomes including recruitment rate, compliance, electroencephalography, actigraphy and completion of questionnaires. Preliminary data suggest an improvement in behaviors associated with autism assessed with the total ATEC score, and in GI symptoms and sleep disorders. CONCLUSION: This study demonstrates probiotic beverage acceptability and safety and protocol feasibility in autistic children. To further support our data, a double-blinded placebo-controlled study is needed to determine its efficacy. En ligne : https://dx.doi.org/10.1186/s11689-025-09617-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome / Timothy A. FENTON in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome Type de document : texte imprimé Auteurs : Timothy A. FENTON, Auteur ; Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Jill L. SILVERMAN, Auteur Langues : Anglais (eng) Mots-clés : Animals  Lovastatin/pharmacology/administration & dosage  Angelman Syndrome/drug therapy/physiopathology/genetics  Disease Models, Animal  Mice  Gait/drug effects  Male  Cognition/drug effects  Female  Behavior, Animal/drug effects  Mice, Inbred C57BL  Ubiquitin-Protein Ligases/genetics  Motor Activity/drug effects  Angelman syndrome  Behavior  Gait  Lovastatin  Neurodevelopmental disorder  UBE3A  reviewed and approved by the UC Davis IACUC on April 20, 2023. Active protocols  are reviewed annually. Title: Novel Testing of Therapeutics for Angelman  Syndrome. Principal Investigator: Jill L. Silverman Protocol #: 23384  Institution: University of California, Davis This institution is accredited by  the Association for Assessment and Accreditation of Laboratory Animal Care,  International (AAALAC). This institution has an Animal Welfare Assurance on file  with the Office of Laboratory Animal Welfare (OLAW). The Assurance Number is  D16-00272 (A3433-01). The IACUC is constituted in accordance with U.S. Public  Health Service (PHS) Animal Welfare Policy and includes a member of the public  and a non-scientist. Consent for publication: FAST, the MIND Institute and the  NIH/NICHD IDDRC consent for the data presented herein to be publishable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Translational research is needed to discover pharmacological targets and treatments for the diagnostic behavioral domains of neurodevelopmental disorders (NDDs), including autism spectrum disorders (ASDs) and intellectual disabilities (IDs). One NDD, associated with ASD and ID, is Angelman Syndrome (AS). AS is a rare genetic NDD for which there is currently no cure nor effective therapeutics. The genetic cause is known to be the loss of expression from the maternal allele of ubiquitin protein ligase E3A (UBE3A). The Ube3a maternal deletion mouse model of AS reliably demonstrates behavioral phenotypes of relevance to AS and therefore offers a suitable in vivo system in which to test potential therapeutics, with construct and face validity. Successes in reducing hyperexcitability and epileptogenesis have been reported in an AS model following acute treatment with lovastatin, an ERK inhibitor by reducing seizure threshold and percentage of mice exhibiting seizures. Since there has been literature reporting disruption of the ERK signaling pathway in AS, we chose to evaluate the effects of acute lovastatin administration in a tailored set of translationally relevant behavioral assays in a mouse model of AS. Unexpectedly, deleterious effects of sedation were observed in wildtype (WT), age matched littermate control mice and despite a baseline hypolocomotive phenotype in AS mice, even further reductions in exploratory activity, were observed post-acute lovastatin treatment. Limitations of this work include that chronic lower dose regimens, more akin to drug administration in humans were beyond the scope of this work, and may have produced a more favorable impact of lovastatin administration over single acute high doses. In addition, lovastatin's effects were not assessed in younger subjects, since our study focused exclusively on adult functional outcomes. Metrics of gait, as well as motor coordination and motor learning in rotarod, previously observed to be impaired in AS mice, were not improved by lovastatin treatment. Finally, cognition by novel object recognition task was worsened in WT controls and not improved in AS, following lovastatin administration. In conclusion, lovastatin did not indicate any major improvement to AS symptoms, and in fact, worsened behavioral outcomes in the WT control groups. Therefore, despite its attractive low toxicity, immediate availability, and low cost of the drug, further investigation for clinical study is unwarranted given the results presented herein. En ligne : https://dx.doi.org/10.1186/s11689-025-09616-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome [texte imprimé] / Timothy A. FENTON, Auteur ; Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Jill L. SILVERMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Animals  Lovastatin/pharmacology/administration & dosage  Angelman Syndrome/drug therapy/physiopathology/genetics  Disease Models, Animal  Mice  Gait/drug effects  Male  Cognition/drug effects  Female  Behavior, Animal/drug effects  Mice, Inbred C57BL  Ubiquitin-Protein Ligases/genetics  Motor Activity/drug effects  Angelman syndrome  Behavior  Gait  Lovastatin  Neurodevelopmental disorder  UBE3A  reviewed and approved by the UC Davis IACUC on April 20, 2023. Active protocols  are reviewed annually. Title: Novel Testing of Therapeutics for Angelman  Syndrome. Principal Investigator: Jill L. Silverman Protocol #: 23384  Institution: University of California, Davis This institution is accredited by  the Association for Assessment and Accreditation of Laboratory Animal Care,  International (AAALAC). This institution has an Animal Welfare Assurance on file  with the Office of Laboratory Animal Welfare (OLAW). The Assurance Number is  D16-00272 (A3433-01). The IACUC is constituted in accordance with U.S. Public  Health Service (PHS) Animal Welfare Policy and includes a member of the public  and a non-scientist. Consent for publication: FAST, the MIND Institute and the  NIH/NICHD IDDRC consent for the data presented herein to be publishable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Translational research is needed to discover pharmacological targets and treatments for the diagnostic behavioral domains of neurodevelopmental disorders (NDDs), including autism spectrum disorders (ASDs) and intellectual disabilities (IDs). One NDD, associated with ASD and ID, is Angelman Syndrome (AS). AS is a rare genetic NDD for which there is currently no cure nor effective therapeutics. The genetic cause is known to be the loss of expression from the maternal allele of ubiquitin protein ligase E3A (UBE3A). The Ube3a maternal deletion mouse model of AS reliably demonstrates behavioral phenotypes of relevance to AS and therefore offers a suitable in vivo system in which to test potential therapeutics, with construct and face validity. Successes in reducing hyperexcitability and epileptogenesis have been reported in an AS model following acute treatment with lovastatin, an ERK inhibitor by reducing seizure threshold and percentage of mice exhibiting seizures. Since there has been literature reporting disruption of the ERK signaling pathway in AS, we chose to evaluate the effects of acute lovastatin administration in a tailored set of translationally relevant behavioral assays in a mouse model of AS. Unexpectedly, deleterious effects of sedation were observed in wildtype (WT), age matched littermate control mice and despite a baseline hypolocomotive phenotype in AS mice, even further reductions in exploratory activity, were observed post-acute lovastatin treatment. Limitations of this work include that chronic lower dose regimens, more akin to drug administration in humans were beyond the scope of this work, and may have produced a more favorable impact of lovastatin administration over single acute high doses. In addition, lovastatin's effects were not assessed in younger subjects, since our study focused exclusively on adult functional outcomes. Metrics of gait, as well as motor coordination and motor learning in rotarod, previously observed to be impaired in AS mice, were not improved by lovastatin treatment. Finally, cognition by novel object recognition task was worsened in WT controls and not improved in AS, following lovastatin administration. In conclusion, lovastatin did not indicate any major improvement to AS symptoms, and in fact, worsened behavioral outcomes in the WT control groups. Therefore, despite its attractive low toxicity, immediate availability, and low cost of the drug, further investigation for clinical study is unwarranted given the results presented herein. En ligne : https://dx.doi.org/10.1186/s11689-025-09616-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome / Ridthi K-R PATEL ; Tasmai VULLI ; Audrey L SMITH ; Martin A. STYNER ; Li-Ming HSU ; Sung-Ho LEE ; Yen-Yu Ian SHIH ; Heather C. HAZLETT ; Mark D. SHEN ; Alain C BURETTE ; Benjamin D. PHILPOT in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 54 Titre : Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome Type de document : texte imprimé Auteurs : Ridthi K-R PATEL, Auteur ; Tasmai VULLI, Auteur ; Audrey L SMITH, Auteur ; Martin A. STYNER, Auteur ; Li-Ming HSU, Auteur ; Sung-Ho LEE, Auteur ; Yen-Yu Ian SHIH, Auteur ; Heather C. HAZLETT, Auteur ; Mark D. SHEN, Auteur ; Alain C BURETTE, Auteur ; Benjamin D. PHILPOT, Auteur Article en page(s) : 54 Langues : Anglais (eng) Mots-clés : Animals  *Angelman Syndrome/genetics/pathology/diagnostic imaging  *White Matter/diagnostic imaging/pathology  Humans  Female  Male  Child, Preschool  *Myelin Sheath/metabolism/pathology  Infant  Child  Mice  *Ubiquitin-Protein Ligases/genetics/metabolism  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology/metabolism  Disease Models, Animal  Organ Size  Mice, Knockout  Microcephaly  Myelin basic protein  Myelination  Ube3a  White matter  and treatment of animals followed institutional and NIH guidelines, and all  animal use protocols were reviewed and approved by the UNC Institutional Animal  Care and Use Committee. Parents of AS and NT individuals provided informed  consent, and the institutional review board approved the research protocol.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS. Furthermore, we probed the possibility of underlying WM neuropathology by examining the progression of myelination in an AS mouse model. METHODS: We conducted magnetic resonance imaging (MRI) on children with AS (n = 32) and neurotypical controls (n = 99) aged 0.5-12 years. In parallel, we examined myelination in postnatal Ube3a maternal-null mice (Ube3a(m-/p+); AS model), Ube3a paternal-null mice (Ube3a(m+/p-)), and wildtype controls (Ube3a(m+/p+)) using MRI, immunohistochemistry, western blotting, and electron microscopy. RESULTS: Our data revealed that AS individuals exhibit significant reductions in brain volume by ~ 1 year of age, and by 6-12 years of age WM is reduced by 26% and gray matter by 21%-approximately twice the reductions observed in the adult AS mouse model. Our AS mouse model saw a global delay in the onset of myelination, which normalized within days (likely corresponding to months or years in human development). This myelination delay is caused by the loss of UBE3A in neurons rather than UBE3A haploinsufficiency in oligodendrocytes. Interestingly, ultrastructural analyses did not reveal abnormalities in myelinated or unmyelinated axons. LIMITATIONS: It is difficult to extrapolate the timing and duration of the myelination delay observed in AS model mice to individuals with AS. CONCLUSIONS: This study reveals WM deficits as a hallmark in children with AS, demonstrating for the first time that these deficits are already apparent at 1 year of age. Parallel studies in a mouse model of AS show these deficits occur alongside the delayed onset of myelination, which results from the loss of neuronal (but not glial) UBE3A, though the causal relationship between these phenotypes remains to be determined. These findings emphasize the potential of WM as both a therapeutic target for interventions and a valuable biomarker for tracking the progression of AS and the effectiveness of potential treatments. En ligne : https://dx.doi.org/10.1186/s13229-024-00636-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome [texte imprimé] / Ridthi K-R PATEL, Auteur ; Tasmai VULLI, Auteur ; Audrey L SMITH, Auteur ; Martin A. STYNER, Auteur ; Li-Ming HSU, Auteur ; Sung-Ho LEE, Auteur ; Yen-Yu Ian SHIH, Auteur ; Heather C. HAZLETT, Auteur ; Mark D. SHEN, Auteur ; Alain C BURETTE, Auteur ; Benjamin D. PHILPOT, Auteur . - 54. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 54 Mots-clés : Animals  *Angelman Syndrome/genetics/pathology/diagnostic imaging  *White Matter/diagnostic imaging/pathology  Humans  Female  Male  Child, Preschool  *Myelin Sheath/metabolism/pathology  Infant  Child  Mice  *Ubiquitin-Protein Ligases/genetics/metabolism  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology/metabolism  Disease Models, Animal  Organ Size  Mice, Knockout  Microcephaly  Myelin basic protein  Myelination  Ube3a  White matter  and treatment of animals followed institutional and NIH guidelines, and all  animal use protocols were reviewed and approved by the UNC Institutional Animal  Care and Use Committee. Parents of AS and NT individuals provided informed  consent, and the institutional review board approved the research protocol.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS. Furthermore, we probed the possibility of underlying WM neuropathology by examining the progression of myelination in an AS mouse model. METHODS: We conducted magnetic resonance imaging (MRI) on children with AS (n = 32) and neurotypical controls (n = 99) aged 0.5-12 years. In parallel, we examined myelination in postnatal Ube3a maternal-null mice (Ube3a(m-/p+); AS model), Ube3a paternal-null mice (Ube3a(m+/p-)), and wildtype controls (Ube3a(m+/p+)) using MRI, immunohistochemistry, western blotting, and electron microscopy. RESULTS: Our data revealed that AS individuals exhibit significant reductions in brain volume by ~ 1 year of age, and by 6-12 years of age WM is reduced by 26% and gray matter by 21%-approximately twice the reductions observed in the adult AS mouse model. Our AS mouse model saw a global delay in the onset of myelination, which normalized within days (likely corresponding to months or years in human development). This myelination delay is caused by the loss of UBE3A in neurons rather than UBE3A haploinsufficiency in oligodendrocytes. Interestingly, ultrastructural analyses did not reveal abnormalities in myelinated or unmyelinated axons. LIMITATIONS: It is difficult to extrapolate the timing and duration of the myelination delay observed in AS model mice to individuals with AS. CONCLUSIONS: This study reveals WM deficits as a hallmark in children with AS, demonstrating for the first time that these deficits are already apparent at 1 year of age. Parallel studies in a mouse model of AS show these deficits occur alongside the delayed onset of myelination, which results from the loss of neuronal (but not glial) UBE3A, though the causal relationship between these phenotypes remains to be determined. These findings emphasize the potential of WM as both a therapeutic target for interventions and a valuable biomarker for tracking the progression of AS and the effectiveness of potential treatments. En ligne : https://dx.doi.org/10.1186/s13229-024-00636-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism / Mengyuan CHEN ; Daoqi MEI ; Shengli SHI ; Jisheng GUO ; Chao GAO ; Qi WANG ; Shuai ZHAO ; Xingxue YAN ; Huichun ZHANG ; Yanli WANG ; Bin GUO ; Yaodong ZHANG in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 18 Titre : Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism Type de document : texte imprimé Auteurs : Mengyuan CHEN, Auteur ; Daoqi MEI, Auteur ; Shengli SHI, Auteur ; Jisheng GUO, Auteur ; Chao GAO, Auteur ; Qi WANG, Auteur ; Shuai ZHAO, Auteur ; Xingxue YAN, Auteur ; Huichun ZHANG, Auteur ; Yanli WANG, Auteur ; Bin GUO, Auteur ; Yaodong ZHANG, Auteur Article en page(s) : 18 Langues : Anglais (eng) Mots-clés : Animals  Prefrontal Cortex/metabolism  Interneurons/metabolism  Disease Models, Animal  Somatostatin/metabolism  Mice  Mice, Knockout  Autistic Disorder/genetics/metabolism  Social Behavior  Optogenetics  Male  Mice, Inbred C57BL  Autism Spectrum Disorder/metabolism  Magel2  Autism spectrum disorder  Medial prefrontal cortex  Social deficits  Somatostatin  procedures were performed according to the National Institutes of Health Guide  for the Care and Use of Laboratory Animals and were approved by the Animal Ethics  Committee of Zhengzhou University. Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Dysfunction in social interactions is a core symptom of autism spectrum disorder (ASD). Nevertheless, the neural mechanisms underlying social deficits in ASD are poorly understood. By integrating electrophysiological, in vivo fiber photometry, viral-mediated tracing, optogenetic and pharmacological stimulation, we show reduced intrinsic excitability and hypoactivity of SOM interneurons in medial prefrontal cortex (mPFC) in Magel2-deficient mice, an established ASD model, were required to social defects. Chemogenetic inhibition of mPFC SOM-containing interneurons resulted in reduced social interaction in wild-type Magel2 mice. These sociability deficits can be rescued by optogenetic activation by excitability of SOM in the mPFC and mPFC(SOM)-LS inhibitory pathway in Magel 2 knockout mice. These results demonstrate the hypoactivity for SOM action in the mPFC in social impairments, and suggest targeting this mechanism that may prove therapeutically beneficial for mitigating social behavioral disturbances observed in ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00653-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism [texte imprimé] / Mengyuan CHEN, Auteur ; Daoqi MEI, Auteur ; Shengli SHI, Auteur ; Jisheng GUO, Auteur ; Chao GAO, Auteur ; Qi WANG, Auteur ; Shuai ZHAO, Auteur ; Xingxue YAN, Auteur ; Huichun ZHANG, Auteur ; Yanli WANG, Auteur ; Bin GUO, Auteur ; Yaodong ZHANG, Auteur . - 18. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 18 Mots-clés : Animals  Prefrontal Cortex/metabolism  Interneurons/metabolism  Disease Models, Animal  Somatostatin/metabolism  Mice  Mice, Knockout  Autistic Disorder/genetics/metabolism  Social Behavior  Optogenetics  Male  Mice, Inbred C57BL  Autism Spectrum Disorder/metabolism  Magel2  Autism spectrum disorder  Medial prefrontal cortex  Social deficits  Somatostatin  procedures were performed according to the National Institutes of Health Guide  for the Care and Use of Laboratory Animals and were approved by the Animal Ethics  Committee of Zhengzhou University. Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Dysfunction in social interactions is a core symptom of autism spectrum disorder (ASD). Nevertheless, the neural mechanisms underlying social deficits in ASD are poorly understood. By integrating electrophysiological, in vivo fiber photometry, viral-mediated tracing, optogenetic and pharmacological stimulation, we show reduced intrinsic excitability and hypoactivity of SOM interneurons in medial prefrontal cortex (mPFC) in Magel2-deficient mice, an established ASD model, were required to social defects. Chemogenetic inhibition of mPFC SOM-containing interneurons resulted in reduced social interaction in wild-type Magel2 mice. These sociability deficits can be rescued by optogenetic activation by excitability of SOM in the mPFC and mPFC(SOM)-LS inhibitory pathway in Magel 2 knockout mice. These results demonstrate the hypoactivity for SOM action in the mPFC in social impairments, and suggest targeting this mechanism that may prove therapeutically beneficial for mitigating social behavioral disturbances observed in ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00653-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis / David J. ADAMS in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis Type de document : texte imprimé Auteurs : David J. ADAMS, Auteur ; Alexandra M. KLOMHAUS, Auteur ; Nicole R. WONG, Auteur ; Benjamin N. SCHNEIDER, Auteur ; Charlotte DISTEFANO, Auteur ; Sunil MEHTA, Auteur ; Rujuta B. WILSON, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Shafali S. JESTE, Auteur ; Aaron D. BESTERMAN, Auteur Langues : Anglais (eng) Mots-clés : Genetic testing  Multidisciplinary care  Neurodevelopmental disorders  Neuropsychiatry  Precision medicine  granted by the UCLA Medical Institutional Review Board 3. One-hundred-ten  patients and/or their legal guardians provided informed consent for prospective  collection of clinical data (UCLA IRB#: 14-001908). With an IRB-approved waiver  of consent, the charts of an additional 206 patients were retrospectively  reviewed (UCLA IRB#: 19–000121). Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: This study aims to identify clinical and developmental factors associated with psychotropic medication exposure and subspecialty psychiatric service utilization among patients with genetic neurodevelopmental disorders (GNDDs). METHODS: We conducted a retrospective analysis of 316 patients from the Care and Research in Neurogenetics (CARING) Clinic at the University of California, Los Angeles (UCLA). We assessed the association between neurodevelopmental and psychiatric diagnoses, behavioral histories, family history, and service utilization with two outcomes: (1) the number of psychotropic medication classes trialed before clinic intake and (2) whether the patient was evaluated by a CARING psychiatrist. Poisson and logistic regression models were used to evaluate associations while adjusting for demographic and clinical covariates. RESULTS: Individuals with more severe behavioral disturbances had higher psychiatric service needs, while intellectual disability was associated with greater psychotropic medication exposure but not increased psychiatric consultation, possibly due to prior community-based care. The presence of a pathogenic/likely pathogenic genetic variant was not associated with either outcome, suggesting that genetic diagnosis alone does not predict psychiatric needs. Instead, behavioral comorbidities, not genetic status, were the primary drivers of psychotropic use and psychiatric referrals. A history of developmental delay was negatively associated with psychiatric consultation, and mediation analyses indicated that early intervention services partly explained this relationship. Additionally, patients receiving behavioral therapies had higher psychotropic exposure, reflecting greater clinical complexity and frequent use of multimodal treatment strategies. CONCLUSIONS: Our findings suggest that psychiatric needs in GNDDs are more closely tied to behavioral comorbidities than to genetic diagnosis status, reinforcing the importance of symptom-driven psychiatric evaluation. The observed relationship between early developmental interventions and psychiatric service utilization warrants further longitudinal investigation. These results highlight opportunities to optimize psychiatric care pathways through early screening, integrated behavioral and pharmacologic interventions, and targeted resource allocation for individuals with neurodevelopmental disorders. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09654-0. En ligne : https://dx.doi.org/10.1186/s11689-025-09654-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis [texte imprimé] / David J. ADAMS, Auteur ; Alexandra M. KLOMHAUS, Auteur ; Nicole R. WONG, Auteur ; Benjamin N. SCHNEIDER, Auteur ; Charlotte DISTEFANO, Auteur ; Sunil MEHTA, Auteur ; Rujuta B. WILSON, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Shafali S. JESTE, Auteur ; Aaron D. BESTERMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Genetic testing  Multidisciplinary care  Neurodevelopmental disorders  Neuropsychiatry  Precision medicine  granted by the UCLA Medical Institutional Review Board 3. One-hundred-ten  patients and/or their legal guardians provided informed consent for prospective  collection of clinical data (UCLA IRB#: 14-001908). With an IRB-approved waiver  of consent, the charts of an additional 206 patients were retrospectively  reviewed (UCLA IRB#: 19–000121). Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: This study aims to identify clinical and developmental factors associated with psychotropic medication exposure and subspecialty psychiatric service utilization among patients with genetic neurodevelopmental disorders (GNDDs). METHODS: We conducted a retrospective analysis of 316 patients from the Care and Research in Neurogenetics (CARING) Clinic at the University of California, Los Angeles (UCLA). We assessed the association between neurodevelopmental and psychiatric diagnoses, behavioral histories, family history, and service utilization with two outcomes: (1) the number of psychotropic medication classes trialed before clinic intake and (2) whether the patient was evaluated by a CARING psychiatrist. Poisson and logistic regression models were used to evaluate associations while adjusting for demographic and clinical covariates. RESULTS: Individuals with more severe behavioral disturbances had higher psychiatric service needs, while intellectual disability was associated with greater psychotropic medication exposure but not increased psychiatric consultation, possibly due to prior community-based care. The presence of a pathogenic/likely pathogenic genetic variant was not associated with either outcome, suggesting that genetic diagnosis alone does not predict psychiatric needs. Instead, behavioral comorbidities, not genetic status, were the primary drivers of psychotropic use and psychiatric referrals. A history of developmental delay was negatively associated with psychiatric consultation, and mediation analyses indicated that early intervention services partly explained this relationship. Additionally, patients receiving behavioral therapies had higher psychotropic exposure, reflecting greater clinical complexity and frequent use of multimodal treatment strategies. CONCLUSIONS: Our findings suggest that psychiatric needs in GNDDs are more closely tied to behavioral comorbidities than to genetic diagnosis status, reinforcing the importance of symptom-driven psychiatric evaluation. The observed relationship between early developmental interventions and psychiatric service utilization warrants further longitudinal investigation. These results highlight opportunities to optimize psychiatric care pathways through early screening, integrated behavioral and pharmacologic interventions, and targeted resource allocation for individuals with neurodevelopmental disorders. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09654-0. En ligne : https://dx.doi.org/10.1186/s11689-025-09654-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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