Autism and Autism Spectrum Disorders: Clinical Overview / Lisa JOSEPH

Public ISBD in The Autisms / Craig M. POWELL Titre : Autism and Autism Spectrum Disorders: Clinical Overview Type de document : texte imprimé Auteurs : Lisa JOSEPH, Auteur ; Sarah SPENCE, Auteur ; Audrey THURM, Auteur Année de publication : 2013 Importance : p.4-19 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Autisms / Craig M. POWELL Autism and Autism Spectrum Disorders: Clinical Overview [texte imprimé] / Lisa JOSEPH, Auteur ; Sarah SPENCE, Auteur ; Audrey THURM, Auteur . - 2013 . - p.4-19. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

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Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome / Lisa JOSEPH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p. Titre : Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome Type de document : texte imprimé Auteurs : Lisa JOSEPH, Auteur ; Cristan FARMER, Auteur ; Colby CHLEBOWSKI, Auteur ; Laura HENRY, Auteur ; Ari FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Liv S. CLASEN, Auteur ; Bethany SAULS, Auteur ; Jakob SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; Erin TORRES, Auteur ; Audrey THURM, Auteur ; Armin 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 [article] Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome [texte imprimé] / Lisa JOSEPH, Auteur ; Cristan FARMER, Auteur ; Colby CHLEBOWSKI, Auteur ; Laura HENRY, Auteur ; Ari FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Liv S. CLASEN, Auteur ; Bethany SAULS, Auteur ; Jakob SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; Erin TORRES, Auteur ; Audrey THURM, Auteur ; Armin 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

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome / Armin RAZNAHAN in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome Type de document : texte imprimé Auteurs : Armin RAZNAHAN, Auteur ; Srishti RAU, Auteur ; Luke SCHAFFER, Auteur ; Siyuan LIU, Auteur ; Ari M. FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Liv S. CLASEN, Auteur ; Lisa JOSEPH, Auteur ; Audrey THURM, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; Dani S. BASSETT, Auteur ; Erin N. TORRES, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  XYY Karyotype  Sex Chromosome Disorders/diagnosis  Cognition  Phenotype  Adaptive function  Behavioral phenotyping  Deep phenotyping  Neurogenetics  Sex chromosomes  Symptom networks Index. décimale : PER Périodiques Résumé : BACKGROUND: Recurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome. METHOD: We gathered high-dimensional measures of psychopathology in 64 XYY individuals and 60 XY controls, plus additional interviewer-based diagnostic data in the XYY group. We provide the first comprehensive diagnostic description of psychiatric morbidity in XYY syndrome and show how diagnostic morbidity relates to functioning, subthreshold symptoms, and ascertainment bias. We then map behavioral vulnerabilities and resilience across 67 behavioral dimensions before borrowing techniques from network science to resolve the mesoscale architecture of these dimensions and links to observable functional outcomes. RESULTS: Carriage of an extra Y-chromosome increases risk for diverse psychiatric diagnoses, with clinically impactful subthreshold symptomatology. Highest rates are seen for neurodevelopmental and affective disorders. A lower bound of < 25% of carriers are free of any diagnosis. Dimensional analysis of 67 scales details the profile of psychopathology in XYY, which survives control for ascertainment bias, specifies attentional and social domains as the most impacted, and refutes stigmatizing historical associations between XYY and violence. Network modeling compresses all measured symptom scales into 8 modules with dissociable links to cognitive ability, adaptive function, and caregiver strain. Hub modules offer efficient proxies for the full symptom network. CONCLUSIONS: This study parses the complex behavioral phenotype of XYY syndrome by applying new and generalizable analytic approaches for analysis of deep-phenotypic psychiatric data in neurogenetic disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09476-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome [texte imprimé] / Armin RAZNAHAN, Auteur ; Srishti RAU, Auteur ; Luke SCHAFFER, Auteur ; Siyuan LIU, Auteur ; Ari M. FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Liv S. CLASEN, Auteur ; Lisa JOSEPH, Auteur ; Audrey THURM, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; Dani S. BASSETT, Auteur ; Erin N. TORRES, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Male  XYY Karyotype  Sex Chromosome Disorders/diagnosis  Cognition  Phenotype  Adaptive function  Behavioral phenotyping  Deep phenotyping  Neurogenetics  Sex chromosomes  Symptom networks Index. décimale : PER Périodiques Résumé : BACKGROUND: Recurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome. METHOD: We gathered high-dimensional measures of psychopathology in 64 XYY individuals and 60 XY controls, plus additional interviewer-based diagnostic data in the XYY group. We provide the first comprehensive diagnostic description of psychiatric morbidity in XYY syndrome and show how diagnostic morbidity relates to functioning, subthreshold symptoms, and ascertainment bias. We then map behavioral vulnerabilities and resilience across 67 behavioral dimensions before borrowing techniques from network science to resolve the mesoscale architecture of these dimensions and links to observable functional outcomes. RESULTS: Carriage of an extra Y-chromosome increases risk for diverse psychiatric diagnoses, with clinically impactful subthreshold symptomatology. Highest rates are seen for neurodevelopmental and affective disorders. A lower bound of < 25% of carriers are free of any diagnosis. Dimensional analysis of 67 scales details the profile of psychopathology in XYY, which survives control for ascertainment bias, specifies attentional and social domains as the most impacted, and refutes stigmatizing historical associations between XYY and violence. Network modeling compresses all measured symptom scales into 8 modules with dissociable links to cognitive ability, adaptive function, and caregiver strain. Hub modules offer efficient proxies for the full symptom network. CONCLUSIONS: This study parses the complex behavioral phenotype of XYY syndrome by applying new and generalizable analytic approaches for analysis of deep-phenotypic psychiatric data in neurogenetic disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09476-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update / Audrey THURM in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.12 Titre : Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update Type de document : texte imprimé Auteurs : Audrey THURM, Auteur ; Elaine TIERNEY, Auteur ; Cristan FARMER, Auteur ; Phebe ALBERT, Auteur ; Lisa JOSEPH, Auteur ; Susan E. SWEDO, Auteur ; Simona BIANCONI, Auteur ; Irena BUKELIS, Auteur ; Courtney WHEELER, Auteur ; Geeta SARPHARE, Auteur ; Diane LANHAM, Auteur ; Christopher A. WASSIF, Auteur ; Forbes D. PORTER, Auteur Article en page(s) : p.12 Langues : Anglais (eng) Mots-clés : Autism  Developmental delay  Smith-Lemli-Opitz  Sterols Index. décimale : PER Périodiques Résumé : BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. METHODS: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. RESULTS: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. CONCLUSIONS: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials. TRIAL REGISTRATION: ClinicalTrials.gov, NCT00001721, NCT00064792. En ligne : http://dx.doi.org/10.1186/s11689-016-9145-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update [texte imprimé] / Audrey THURM, Auteur ; Elaine TIERNEY, Auteur ; Cristan FARMER, Auteur ; Phebe ALBERT, Auteur ; Lisa JOSEPH, Auteur ; Susan E. SWEDO, Auteur ; Simona BIANCONI, Auteur ; Irena BUKELIS, Auteur ; Courtney WHEELER, Auteur ; Geeta SARPHARE, Auteur ; Diane LANHAM, Auteur ; Christopher A. WASSIF, Auteur ; Forbes D. PORTER, Auteur . - p.12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.12 Mots-clés : Autism  Developmental delay  Smith-Lemli-Opitz  Sterols Index. décimale : PER Périodiques Résumé : BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. METHODS: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. RESULTS: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. CONCLUSIONS: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials. TRIAL REGISTRATION: ClinicalTrials.gov, NCT00001721, NCT00064792. En ligne : http://dx.doi.org/10.1186/s11689-016-9145-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Event-based prospective memory in children with autism spectrum disorder: The role of executive function / Li YI in Research in Autism Spectrum Disorders, 8-6 (June 2014)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 8-6 (June 2014) . - p.654-660 Titre : Event-based prospective memory in children with autism spectrum disorder: The role of executive function Type de document : texte imprimé Auteurs : Li YI, Auteur ; Yuebo FAN, Auteur ; Lisa JOSEPH, Auteur ; Dan HUANG, Auteur ; Xueqin WANG, Auteur ; Jiao LI, Auteur ; Xiaobing ZOU, Auteur Article en page(s) : p.654-660 Langues : Anglais (eng) Mots-clés : Prospective memory  Autism spectrum disorder  Executive function  Working memory  Inhibitory control  Event-based prospective memory Index. décimale : PER Périodiques Résumé : The present study investigated event-based prospective memory (PM) and its cognitive correlates in children with autism spectrum disorder (ASD) compared to age- and ability-matched typically developing (TD) peers. Participants included 25 children with ASD, 25 age-matched TD peers, and 28 ability-matched TD peers. Participants completed one PM task, and several executive functioning tasks assessing working memory (Block Recall Task), inhibitory control (Stroop Task), and cognitive flexibility (Dimensional Change Card Sorting Task). Results indicated that children with ASD had significantly lower scores on the PM task than children in the TD groups. Additionally, PM performance of children with ASD was significantly predicted by their nonverbal IQ, whereas PM performance of TD children was significantly predicted by their inhibitory control. These results provide evidence for the PM deficit in children with ASD and the effect of cognitive functioning, rather than a specific aspect of executive function, on the development of PM. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.03.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=232 [article] Event-based prospective memory in children with autism spectrum disorder: The role of executive function [texte imprimé] / Li YI, Auteur ; Yuebo FAN, Auteur ; Lisa JOSEPH, Auteur ; Dan HUANG, Auteur ; Xueqin WANG, Auteur ; Jiao LI, Auteur ; Xiaobing ZOU, Auteur . - p.654-660. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 8-6 (June 2014) . - p.654-660 Mots-clés : Prospective memory  Autism spectrum disorder  Executive function  Working memory  Inhibitory control  Event-based prospective memory Index. décimale : PER Périodiques Résumé : The present study investigated event-based prospective memory (PM) and its cognitive correlates in children with autism spectrum disorder (ASD) compared to age- and ability-matched typically developing (TD) peers. Participants included 25 children with ASD, 25 age-matched TD peers, and 28 ability-matched TD peers. Participants completed one PM task, and several executive functioning tasks assessing working memory (Block Recall Task), inhibitory control (Stroop Task), and cognitive flexibility (Dimensional Change Card Sorting Task). Results indicated that children with ASD had significantly lower scores on the PM task than children in the TD groups. Additionally, PM performance of children with ASD was significantly predicted by their nonverbal IQ, whereas PM performance of TD children was significantly predicted by their inhibitory control. These results provide evidence for the PM deficit in children with ASD and the effect of cognitive functioning, rather than a specific aspect of executive function, on the development of PM. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.03.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=232

Repetitive Behavior and Restricted Interests in Young Children with Autism: Comparisons with Controls and Stability Over 2 Years / Lisa JOSEPH in Autism Research, 6-6 (December 2013)  

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The ADOS Calibrated Severity Score: Relationship to Phenotypic Variables and Stability over Time / Stacy SHUMWAY in Autism Research, 5-4 (August 2012)  

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