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Auteur A. RAZNAHAN |
Documents disponibles écrits par cet auteur (2)
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Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome / L. JOSEPH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. JOSEPH, Auteur ; C. FARMER, Auteur ; C. CHLEBOWSKI, Auteur ; L. HENRY, Auteur ; A. FISH, Auteur ; C. MANKIW, Auteur ; A. XENOPHONTOS, Auteur ; L. CLASEN, Auteur ; B. SAULS, Auteur ; J. SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; E. TORRES, Auteur ; A. THURM, Auteur ; A. RAZNAHAN, Auteur Année de publication : 2018 Article en page(s) : 30 p. Langues : Anglais (eng) Mots-clés : Adaptive behavior Autism spectrum disorder symptoms Cognitive functioning Learning disabilities Sex chromosome aneuploidies Index. décimale : PER Périodiques Résumé : BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." En ligne : http://dx.doi.org/10.1186/s11689-018-9248-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p.[article] Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome [Texte imprimé et/ou numérique] / L. JOSEPH, Auteur ; C. FARMER, Auteur ; C. CHLEBOWSKI, Auteur ; L. HENRY, Auteur ; A. FISH, Auteur ; C. MANKIW, Auteur ; A. XENOPHONTOS, Auteur ; L. CLASEN, Auteur ; B. SAULS, Auteur ; J. SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; E. TORRES, Auteur ; A. THURM, Auteur ; A. RAZNAHAN, Auteur . - 2018 . - 30 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p.
Mots-clés : Adaptive behavior Autism spectrum disorder symptoms Cognitive functioning Learning disabilities Sex chromosome aneuploidies Index. décimale : PER Périodiques Résumé : BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." En ligne : http://dx.doi.org/10.1186/s11689-018-9248-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder / A. RAZNAHAN in Journal of Neurodevelopmental Disorders, 1-3 (September 2009)
[article]
Titre : A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. RAZNAHAN, Auteur ; R. TORO, Auteur ; P. PROITSI, Auteur ; J. POWELL, Auteur ; T. PAUS, Auteur ; Patrick BOLTON, Auteur ; D. G. MURPHY, Auteur Article en page(s) : p.215-23 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathways - which regulate neuroproliferative and neuroplastic processes. In healthy controls genotype at a single nucleotide polymorphism that alters BDNF signalling (Val66met) has been related to regional cortical volume. It is not known however if this influence on brain development is intact in ASD. Therefore we compared the relationship between genotype and cortical anatomy (as measured using in vivo Magnetic Resonance Imaging) in 41 people with ASD and 30 healthy controls. We measured cortical volume, and its two sole determinants - cortical thickness and surface area - which reflect differing neurodevelopmental processes. We found "Group-by-Genotype" interactions for cortical volume in medial (caudal anterior cingulate, posterior cingulate) and lateral (rostral middle, lateral orbitofrontal, pars orbitalis and pars triangularis) frontal cortices. Furthermore, within (only) these regions "Group-by-Genotype" interactions were also found for surface area. No effects were found for cortical thickness in any region. Our preliminary findings suggest that people with ASD have differences from controls in the relationship between BDNF val66met genotype and regional (especially frontal) cortical volume and surface area, but not cortical thickness. Therefore alterations in the relationship between BDNF val66met genotype and surface area in ASD may drive the findings for volume. If correct, this suggests ASD is associated with a distorted relationship between BDNF val66met genotype and the determinants of regional cortical surface area - gyrification and/or sulcal positioning. En ligne : http://dx.doi.org/10.1007/s11689-009-9012-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341
in Journal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.215-23[article] A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder [Texte imprimé et/ou numérique] / A. RAZNAHAN, Auteur ; R. TORO, Auteur ; P. PROITSI, Auteur ; J. POWELL, Auteur ; T. PAUS, Auteur ; Patrick BOLTON, Auteur ; D. G. MURPHY, Auteur . - p.215-23.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.215-23
Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathways - which regulate neuroproliferative and neuroplastic processes. In healthy controls genotype at a single nucleotide polymorphism that alters BDNF signalling (Val66met) has been related to regional cortical volume. It is not known however if this influence on brain development is intact in ASD. Therefore we compared the relationship between genotype and cortical anatomy (as measured using in vivo Magnetic Resonance Imaging) in 41 people with ASD and 30 healthy controls. We measured cortical volume, and its two sole determinants - cortical thickness and surface area - which reflect differing neurodevelopmental processes. We found "Group-by-Genotype" interactions for cortical volume in medial (caudal anterior cingulate, posterior cingulate) and lateral (rostral middle, lateral orbitofrontal, pars orbitalis and pars triangularis) frontal cortices. Furthermore, within (only) these regions "Group-by-Genotype" interactions were also found for surface area. No effects were found for cortical thickness in any region. Our preliminary findings suggest that people with ASD have differences from controls in the relationship between BDNF val66met genotype and regional (especially frontal) cortical volume and surface area, but not cortical thickness. Therefore alterations in the relationship between BDNF val66met genotype and surface area in ASD may drive the findings for volume. If correct, this suggests ASD is associated with a distorted relationship between BDNF val66met genotype and the determinants of regional cortical surface area - gyrification and/or sulcal positioning. En ligne : http://dx.doi.org/10.1007/s11689-009-9012-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341