Patterns of psychopathology and cognition in sex chromosome aneuploidy / Srishti RAU in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Patterns of psychopathology and cognition in sex chromosome aneuploidy Type de document : texte imprimé Auteurs : Srishti RAU, Auteur ; Ethan T. WHITMAN, Auteur ; Kimberly SCHAUDER, Auteur ; Nikhita GOGATE, Auteur ; Nancy Raitano LEE, Auteur ; Lauren KENWORTHY, Auteur ; Armin RAZNAHAN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Aneuploidy  Child  Cognition  Humans  Mental Disorders  Sex Chromosome Aberrations  Sex Chromosomes/genetics  Neurogenetic conditions  Psychopathology  Sex chromosome aneuploidy  Sex chromosomes Index. décimale : PER Périodiques Résumé : BACKGROUND: Sex chromosome aneuploidies (SCAs) are a collectively common family of genetic disorders that increase the risk for neuropsychiatric and cognitive impairment. Beyond being important medical disorders in their own right, SCAs also offer a unique naturally occurring model for studying X- and Y-chromosome influences on the human brain. However, it remains unclear if (i) different SCAs are associated with different profiles of psychopathology and (ii) the notable interindividual variation in psychopathology is related to co-occurring variation in cognitive ability. METHODS: We examined scores for 11 dimensions of psychopathology [Child/Adult Behavior Checklist (CBCL)] and general cognitive ability [full-scale IQ (FSIQ) from Wechsler tests] in 110 youth with varying SCAs (XXY = 41, XYY = 22, XXX = 27, XXYY = 20) and 131 typically developing controls (XX = 59, XY = 72). RESULTS: All SCAs were associated with elevated CBCL scores across several dimensions of psychopathology (two-sample t tests comparing the euploidic and aneuploidic groups [all |T| > 9, and p < 0.001]). Social and attentional functioning were particularly sensitive to the carriage of a supernumerary Y-chromosome. In particular, the XYY group evidenced significantly more social problems than both extra-X groups (Cohen's d effect size > 0.5, Bonferroni corrected p < .05). There was marked variability in CBCL scores within each SCA group, which generally correlated negatively with IQ, but most strongly so for social and attentional difficulties (standardized β, - 0.3). These correlations showed subtle differences as a function of the SCA group and CBCL scale. CONCLUSIONS: There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk. En ligne : https://dx.doi.org/10.1186/s11689-021-09407-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Patterns of psychopathology and cognition in sex chromosome aneuploidy [texte imprimé] / Srishti RAU, Auteur ; Ethan T. WHITMAN, Auteur ; Kimberly SCHAUDER, Auteur ; Nikhita GOGATE, Auteur ; Nancy Raitano LEE, Auteur ; Lauren KENWORTHY, Auteur ; Armin RAZNAHAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Aneuploidy  Child  Cognition  Humans  Mental Disorders  Sex Chromosome Aberrations  Sex Chromosomes/genetics  Neurogenetic conditions  Psychopathology  Sex chromosome aneuploidy  Sex chromosomes Index. décimale : PER Périodiques Résumé : BACKGROUND: Sex chromosome aneuploidies (SCAs) are a collectively common family of genetic disorders that increase the risk for neuropsychiatric and cognitive impairment. Beyond being important medical disorders in their own right, SCAs also offer a unique naturally occurring model for studying X- and Y-chromosome influences on the human brain. However, it remains unclear if (i) different SCAs are associated with different profiles of psychopathology and (ii) the notable interindividual variation in psychopathology is related to co-occurring variation in cognitive ability. METHODS: We examined scores for 11 dimensions of psychopathology [Child/Adult Behavior Checklist (CBCL)] and general cognitive ability [full-scale IQ (FSIQ) from Wechsler tests] in 110 youth with varying SCAs (XXY = 41, XYY = 22, XXX = 27, XXYY = 20) and 131 typically developing controls (XX = 59, XY = 72). RESULTS: All SCAs were associated with elevated CBCL scores across several dimensions of psychopathology (two-sample t tests comparing the euploidic and aneuploidic groups [all |T| > 9, and p < 0.001]). Social and attentional functioning were particularly sensitive to the carriage of a supernumerary Y-chromosome. In particular, the XYY group evidenced significantly more social problems than both extra-X groups (Cohen's d effect size > 0.5, Bonferroni corrected p < .05). There was marked variability in CBCL scores within each SCA group, which generally correlated negatively with IQ, but most strongly so for social and attentional difficulties (standardized β, - 0.3). These correlations showed subtle differences as a function of the SCA group and CBCL scale. CONCLUSIONS: There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk. En ligne : https://dx.doi.org/10.1186/s11689-021-09407-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes / Lukas SCHAFFER in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes Type de document : texte imprimé Auteurs : Lukas SCHAFFER, Auteur ; Srishti RAU, Auteur ; Isabella G. LARSEN, Auteur ; Liv CLASEN, Auteur ; Allysa WARLING, Auteur ; Ethan T. WHITMAN, Auteur ; Ajay NADIG, Auteur ; Cassidy MCDERMOTT, Auteur ; Anastasia XENOPHONTOS, Auteur ; Kathleen WILSON, Auteur ; Jonathan BLUMENTHAL, Auteur ; Erin TORRES, Auteur ; Armin RAZNAHAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Klinefelter Syndrome/genetics/diagnosis  Adult  Phenotype  XYY Karyotype/genetics  Adolescent  Chromosomes, Human, Y/genetics  Mental Disorders/genetics/diagnosis  Young Adult  Chromosomes, Human, X/genetics  Child  Middle Aged Index. décimale : PER Périodiques Résumé : BACKGROUND: Do different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given limited access to shared batteries of fine-grained clinical data across genetic disorders. METHODS: Using a new suite of generalizable analytic approaches, we examine gold-standard diagnostic ratings, scores on 66 dimensional measures of psychopathology, and measures of cognition and functioning in two different sex chromosome aneuploidies (SCAs)-Klinefelter (XXY/KS) and XYY syndrome (n = 102 and 64 vs. n = 74 and 60 matched XY controls, total n = 300). We focus on SCAs for their high collective prevalence, informativeness regarding differential X- vs. Y-chromosome effects, and potential relevance for normative sex differences. RESULTS: We show that XXY/KS elevates rates for most psychiatric diagnoses as previously reported for XYY, but disproportionately so for anxiety disorders. Fine-mapping across all 66 traits provides a detailed profile of psychopathology in XXY/KS which is strongly correlated with that of XYY (r = .75 across traits) and robust to ascertainment biases, but reveals: (i) a greater penetrance of XYY than KS/XXY for most traits except mood/anxiety problems, and (ii) a disproportionate impact of XYY vs. XXY/KS on social problems. XXY/KS and XYY showed a similar coupling of psychopathology with adaptive function and caregiver strain, but not IQ. CONCLUSIONS: This work provides new tools for deep-phenotypic comparisons of genetic disorders in psychiatry and uses these to detail unique and shared effects of the X- and Y-chromosome on human behavior. En ligne : https://dx.doi.org/10.1186/s11689-024-09574-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes [texte imprimé] / Lukas SCHAFFER, Auteur ; Srishti RAU, Auteur ; Isabella G. LARSEN, Auteur ; Liv CLASEN, Auteur ; Allysa WARLING, Auteur ; Ethan T. WHITMAN, Auteur ; Ajay NADIG, Auteur ; Cassidy MCDERMOTT, Auteur ; Anastasia XENOPHONTOS, Auteur ; Kathleen WILSON, Auteur ; Jonathan BLUMENTHAL, Auteur ; Erin TORRES, Auteur ; Armin RAZNAHAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Klinefelter Syndrome/genetics/diagnosis  Adult  Phenotype  XYY Karyotype/genetics  Adolescent  Chromosomes, Human, Y/genetics  Mental Disorders/genetics/diagnosis  Young Adult  Chromosomes, Human, X/genetics  Child  Middle Aged Index. décimale : PER Périodiques Résumé : BACKGROUND: Do different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given limited access to shared batteries of fine-grained clinical data across genetic disorders. METHODS: Using a new suite of generalizable analytic approaches, we examine gold-standard diagnostic ratings, scores on 66 dimensional measures of psychopathology, and measures of cognition and functioning in two different sex chromosome aneuploidies (SCAs)-Klinefelter (XXY/KS) and XYY syndrome (n = 102 and 64 vs. n = 74 and 60 matched XY controls, total n = 300). We focus on SCAs for their high collective prevalence, informativeness regarding differential X- vs. Y-chromosome effects, and potential relevance for normative sex differences. RESULTS: We show that XXY/KS elevates rates for most psychiatric diagnoses as previously reported for XYY, but disproportionately so for anxiety disorders. Fine-mapping across all 66 traits provides a detailed profile of psychopathology in XXY/KS which is strongly correlated with that of XYY (r = .75 across traits) and robust to ascertainment biases, but reveals: (i) a greater penetrance of XYY than KS/XXY for most traits except mood/anxiety problems, and (ii) a disproportionate impact of XYY vs. XXY/KS on social problems. XXY/KS and XYY showed a similar coupling of psychopathology with adaptive function and caregiver strain, but not IQ. CONCLUSIONS: This work provides new tools for deep-phenotypic comparisons of genetic disorders in psychiatry and uses these to detail unique and shared effects of the X- and Y-chromosome on human behavior. En ligne : https://dx.doi.org/10.1186/s11689-024-09574-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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