Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery / Rowena NG in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery Type de document : texte imprimé Auteurs : Rowena NG, Auteur ; Allison KALINOUSKY, Auteur ; Jacqueline HARRIS, Auteur Langues : Anglais (eng) Mots-clés : Epigenesis, Genetic  Cognition  Behavior  Epigenetics  Neurodevelopment Index. décimale : PER Périodiques Résumé : Epigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However, the importance of epigenetic processes to neurodevelopment and higher order neurological functions like cognition and behavior is only now being realized. A group of disorders known as the Mendelian disorders of the epigenetic machinery are caused by the altered function of epigenetic machinery proteins, which consequently affects downstream expression of many genes. These disorders almost universally have cognitive dysfunction and behavioral issues as core features. Here, we review what is known about the neurodevelopmental phenotypes of some key examples of these disorders divided into categories based on the underlying function of the affected protein. Understanding these Mendelian disorders of the epigenetic machinery can illuminate the role of epigenetic regulation in typical brain function and can lead to future therapies and better management for a host of neurodevelopmental and neuropsychological disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09482-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery [texte imprimé] / Rowena NG, Auteur ; Allison KALINOUSKY, Auteur ; Jacqueline HARRIS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Epigenesis, Genetic  Cognition  Behavior  Epigenetics  Neurodevelopment Index. décimale : PER Périodiques Résumé : Epigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However, the importance of epigenetic processes to neurodevelopment and higher order neurological functions like cognition and behavior is only now being realized. A group of disorders known as the Mendelian disorders of the epigenetic machinery are caused by the altered function of epigenetic machinery proteins, which consequently affects downstream expression of many genes. These disorders almost universally have cognitive dysfunction and behavioral issues as core features. Here, we review what is known about the neurodevelopmental phenotypes of some key examples of these disorders divided into categories based on the underlying function of the affected protein. Understanding these Mendelian disorders of the epigenetic machinery can illuminate the role of epigenetic regulation in typical brain function and can lead to future therapies and better management for a host of neurodevelopmental and neuropsychological disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09482-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome / Rowena NG in Journal of Autism and Developmental Disorders, 55-12 (December 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-12 (December 2025) . - p.4337-4346 Titre : Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome Type de document : texte imprimé Auteurs : Rowena NG, Auteur ; Allison KALINOUSKY, Auteur ; Jacqueline HARRIS, Auteur Article en page(s) : p.4337-4346 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and regulate gene expression via histone modification. Although both proteins share similar structure and epigenetic regulatory functions, it remains unclear if KAT6A/6B mutation disorders, both very rare conditions, yield the same neurocognitive presentation and thus benefit from similar treatment approaches. This study provides a preliminary overview of neuropsychological functioning of 13 individuals with KAT6B disorder (Mean age = 9.01 years, SD = 5.46), which was compared to that of a recently published sample of 15 individuals with KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed a neuropsychological test battery to assess non-verbal cognition, and caregivers completed a series of standardized rating inventories to assess daily behavioral functioning. Results reveal those with KAT6B disorders present with severe adaptive deficits (92.3%) and autism-related behaviors (83.3%), juxtaposed with relatively low concerns with externalizing behaviors (7.6%), a pattern shared by the KAT6A group. Those with KAT6B disorders present with high levels of autistic features, including reduced affiliative interest, whereas social motivation is less affected within the KAT6A group. Overall, the levels of impairment in nonverbal cognition and receptive language were comparable among those with KAT6B disorders, a trend also seen in the KAT6A group. In brief, KAT6B and KAT6A disorders yield analogous neuropsychological profiles. Findings implicate common molecular pathophysiological mechanisms for these epigenetic disorders, such that similar therapies may have shared effect across diseases. En ligne : https://doi.org/10.1007/s10803-024-06500-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=572 [article] Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome [texte imprimé] / Rowena NG, Auteur ; Allison KALINOUSKY, Auteur ; Jacqueline HARRIS, Auteur . - p.4337-4346. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-12 (December 2025) . - p.4337-4346 Index. décimale : PER Périodiques Résumé : KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and regulate gene expression via histone modification. Although both proteins share similar structure and epigenetic regulatory functions, it remains unclear if KAT6A/6B mutation disorders, both very rare conditions, yield the same neurocognitive presentation and thus benefit from similar treatment approaches. This study provides a preliminary overview of neuropsychological functioning of 13 individuals with KAT6B disorder (Mean age = 9.01 years, SD = 5.46), which was compared to that of a recently published sample of 15 individuals with KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed a neuropsychological test battery to assess non-verbal cognition, and caregivers completed a series of standardized rating inventories to assess daily behavioral functioning. Results reveal those with KAT6B disorders present with severe adaptive deficits (92.3%) and autism-related behaviors (83.3%), juxtaposed with relatively low concerns with externalizing behaviors (7.6%), a pattern shared by the KAT6A group. Those with KAT6B disorders present with high levels of autistic features, including reduced affiliative interest, whereas social motivation is less affected within the KAT6A group. Overall, the levels of impairment in nonverbal cognition and receptive language were comparable among those with KAT6B disorders, a trend also seen in the KAT6A group. In brief, KAT6B and KAT6A disorders yield analogous neuropsychological profiles. Findings implicate common molecular pathophysiological mechanisms for these epigenetic disorders, such that similar therapies may have shared effect across diseases. En ligne : https://doi.org/10.1007/s10803-024-06500-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=572

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability / Thomas W. FRAZIER ; Robyn M. BUSCH ; Patricia KLAAS ; Katherine LACHLAN ; Shafali S. JESTE ; Alexander KOLEVZON ; Eva LOTH ; Jacqueline HARRIS ; Tom PEPPER ; Kristin ANTHONY ; J. Michael GRAGLIA ; Kathryn HELDE ; Christal DELAGRAMMATIKAS ; Sandra BEDROSIAN-SERMONE ; Constance SMITH-HICKS ; Mustafa SAHIN ; Eric A. YOUNGSTROM ; Charis ENG ; Lacey CHETCUTI ; Antonio Y. HARDAN ; Mirko ULJAREVIĆ in Autism Research, 18-2 (February 2025)  

Public ISBD [article]  inAutism Research > 18-2 (February 2025) . - p.334-348 Titre : Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability : Autism Research Type de document : texte imprimé Auteurs : Thomas W. FRAZIER, Auteur ; Robyn M. BUSCH, Auteur ; Patricia KLAAS, Auteur ; Katherine LACHLAN, Auteur ; Shafali S. JESTE, Auteur ; Alexander KOLEVZON, Auteur ; Eva LOTH, Auteur ; Jacqueline HARRIS, Auteur ; Tom PEPPER, Auteur ; Kristin ANTHONY, Auteur ; J. Michael GRAGLIA, Auteur ; Kathryn HELDE, Auteur ; Christal DELAGRAMMATIKAS, Auteur ; Sandra BEDROSIAN-SERMONE, Auteur ; Constance SMITH-HICKS, Auteur ; Mustafa SAHIN, Auteur ; Eric A. YOUNGSTROM, Auteur ; Charis ENG, Auteur ; Lacey CHETCUTI, Auteur ; Antonio Y. HARDAN, Auteur ; Mirko ULJAREVIĆ, Auteur Article en page(s) : p.334-348 Langues : Anglais (eng) Mots-clés : autism spectrum disorder online reliability remote monitoring social attention validity Index. décimale : PER Périodiques Résumé : Abstract Social attention is a key aspect of neurodevelopment and is significantly altered in neurodevelopmental genetic syndromes and many individuals with idiopathic autism spectrum disorder (ASD). The primary aim of the present study was to examine the psychometric properties of webcam-collected social attention measurements, including four new specific aspects of social attention, in three genetic syndromes (PTEN Hamartoma Tumor Syndrome?PHTS; Malan Syndrome?NFIX; and SYNGAP1-related disorder?SYNGAP1), a mixed group of other neurodevelopmental genetic syndromes (Other NDGS), and individuals with a range of idiopathic neurodevelopmental disorder (NDD). The secondary aim was to evaluate the construct validity of these social attention measurements, including evaluating known-groups validity across study groups and concurrent validity for separating ASD and non-ASD cases. Participants (N 467, age 3 45; PHTS n 102, NFIX n 23, SYNGAP1 n 42, other NDGS n 63, idiopathic NDD n 53, neurotypical siblings n 71, and unrelated neurotypical controls n 113) completed a 4-min online-administered social attention paradigm that includes a variety of distinct stimuli at three timepoints (baseline, 1-month, and 4-month follow-up). Social attention measures had good scale and test?retest reliability, with the exception of measures of non-social preference and face-specific processing. Unique patterns of social attention emerged across study groups, with near neurotypical levels in PHTS and weaker social attention in NFIX and SYNGAP1 relative to controls. Global social attention had good accuracy in detecting ASD within NDGS participants. Remote monitoring social attention, including distinct aspects of social attention, may be useful for characterizing phenotypic profiles and tracking the natural history of distinct NDGS and idiopathic NDD as well as identifying ASD within NDGS. Given their reproducibility and stability, global social attention and several distinct social attention measures may be useful outcomes for future clinical trials. En ligne : https://doi.org/10.1002/aur.3290 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=547 [article] Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability : Autism Research [texte imprimé] / Thomas W. FRAZIER, Auteur ; Robyn M. BUSCH, Auteur ; Patricia KLAAS, Auteur ; Katherine LACHLAN, Auteur ; Shafali S. JESTE, Auteur ; Alexander KOLEVZON, Auteur ; Eva LOTH, Auteur ; Jacqueline HARRIS, Auteur ; Tom PEPPER, Auteur ; Kristin ANTHONY, Auteur ; J. Michael GRAGLIA, Auteur ; Kathryn HELDE, Auteur ; Christal DELAGRAMMATIKAS, Auteur ; Sandra BEDROSIAN-SERMONE, Auteur ; Constance SMITH-HICKS, Auteur ; Mustafa SAHIN, Auteur ; Eric A. YOUNGSTROM, Auteur ; Charis ENG, Auteur ; Lacey CHETCUTI, Auteur ; Antonio Y. HARDAN, Auteur ; Mirko ULJAREVIĆ, Auteur . - p.334-348. Langues : Anglais (eng) in Autism Research > 18-2 (February 2025) . - p.334-348 Mots-clés : autism spectrum disorder online reliability remote monitoring social attention validity Index. décimale : PER Périodiques Résumé : Abstract Social attention is a key aspect of neurodevelopment and is significantly altered in neurodevelopmental genetic syndromes and many individuals with idiopathic autism spectrum disorder (ASD). The primary aim of the present study was to examine the psychometric properties of webcam-collected social attention measurements, including four new specific aspects of social attention, in three genetic syndromes (PTEN Hamartoma Tumor Syndrome?PHTS; Malan Syndrome?NFIX; and SYNGAP1-related disorder?SYNGAP1), a mixed group of other neurodevelopmental genetic syndromes (Other NDGS), and individuals with a range of idiopathic neurodevelopmental disorder (NDD). The secondary aim was to evaluate the construct validity of these social attention measurements, including evaluating known-groups validity across study groups and concurrent validity for separating ASD and non-ASD cases. Participants (N 467, age 3 45; PHTS n 102, NFIX n 23, SYNGAP1 n 42, other NDGS n 63, idiopathic NDD n 53, neurotypical siblings n 71, and unrelated neurotypical controls n 113) completed a 4-min online-administered social attention paradigm that includes a variety of distinct stimuli at three timepoints (baseline, 1-month, and 4-month follow-up). Social attention measures had good scale and test?retest reliability, with the exception of measures of non-social preference and face-specific processing. Unique patterns of social attention emerged across study groups, with near neurotypical levels in PHTS and weaker social attention in NFIX and SYNGAP1 relative to controls. Global social attention had good accuracy in detecting ASD within NDGS participants. Remote monitoring social attention, including distinct aspects of social attention, may be useful for characterizing phenotypic profiles and tracking the natural history of distinct NDGS and idiopathic NDD as well as identifying ASD within NDGS. Given their reproducibility and stability, global social attention and several distinct social attention measures may be useful outcomes for future clinical trials. En ligne : https://doi.org/10.1002/aur.3290 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=547

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