Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome / Rebecca M. POLLAK in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 50 p. Titre : Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Rebecca M. POLLAK, Auteur ; Jordan E. PINCUS, Auteur ; T. Lindsey BURRELL, Auteur ; Joseph F. CUBELLS, Auteur ; Cheryl KLAIMAN, Auteur ; Melissa M. MURPHY, Auteur ; Celine A. SAULNIER, Auteur ; Elaine F. WALKER, Auteur ; Stormi PULVER. WHITE, Auteur ; Jennifer G. MULLE, Auteur Article en page(s) : 50 p. Langues : Anglais (eng) Mots-clés : Male  Female  Humans  Autism Spectrum Disorder/diagnosis/genetics  Syndrome  Social Skills  Surveys and Questionnaires  Phenotype  3q29 deletion  Adi-r  Ados-2  Autism  Copy number variants  Developmental delay  Genomic disorder  Psychiatric genetics  other authors report no conflicts of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. METHODS: Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. RESULTS: Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean=11.36; nsASD mean=15.70; p=0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean=1.73; nsASD mean=3.63; p=0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean=43.89 months; nsASD mean=37.86 months; p=0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. LIMITATIONS: There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. CONCLUSIONS: 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services. En ligne : http://dx.doi.org/10.1186/s13229-022-00533-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 [article] Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome [Texte imprimé et/ou numérique] / Rebecca M. POLLAK, Auteur ; Jordan E. PINCUS, Auteur ; T. Lindsey BURRELL, Auteur ; Joseph F. CUBELLS, Auteur ; Cheryl KLAIMAN, Auteur ; Melissa M. MURPHY, Auteur ; Celine A. SAULNIER, Auteur ; Elaine F. WALKER, Auteur ; Stormi PULVER. WHITE, Auteur ; Jennifer G. MULLE, Auteur . - 50 p. Langues : Anglais (eng) in Molecular Autism > 13 (2022) . - 50 p. Mots-clés : Male  Female  Humans  Autism Spectrum Disorder/diagnosis/genetics  Syndrome  Social Skills  Surveys and Questionnaires  Phenotype  3q29 deletion  Adi-r  Ados-2  Autism  Copy number variants  Developmental delay  Genomic disorder  Psychiatric genetics  other authors report no conflicts of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. METHODS: Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. RESULTS: Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean=11.36; nsASD mean=15.70; p=0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean=1.73; nsASD mean=3.63; p=0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean=43.89 months; nsASD mean=37.86 months; p=0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. LIMITATIONS: There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. CONCLUSIONS: 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services. En ligne : http://dx.doi.org/10.1186/s13229-022-00533-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491

Developmental perspectives on the origins of psychotic disorders: The need for a transdiagnostic approach / Elaine F. WALKER ; Katrina Aberizk ; Emerald Yuan ; Zarina Bilgrami ; Benson S. Ku ; Ryan M. Guest in Development and Psychopathology, 36-5 (December 2024)  

Public ISBD [article]  inDevelopment and Psychopathology > 36-5 (December 2024) . - p.2559-2569 Titre : Developmental perspectives on the origins of psychotic disorders: The need for a transdiagnostic approach : Development and Psychopathology Type de document : Texte imprimé et/ou numérique Auteurs : Elaine F. WALKER, Auteur ; Katrina Aberizk, Auteur ; Emerald Yuan, Auteur ; Zarina Bilgrami, Auteur ; Benson S. Ku, Auteur ; Ryan M. Guest, Auteur Année de publication : 2024 Article en page(s) : p.2559-2569 Langues : Anglais (eng) Mots-clés : Development  etiology  psychosis  research  risk Index. décimale : PER Périodiques Résumé : Research on serious mental disorders, particularly psychosis, has revealed highly variable symptom profiles and developmental trajectories prior to illness-onset. As Dante Cicchetti pointed out decades before the term "transdiagnostic" was widely used, the pathways to psychopathology emerge in a system involving equifinality and multifinality. Like most other psychological disorders, psychosis is associated with multiple domains of risk factors, both genetic and environmental, and there are many transdiagnostic developmental pathways that can lead to psychotic syndromes. In this article, we discuss our current understanding of heterogeneity in the etiology of psychosis and its implications for approaches to conceptualizing etiology and research. We highlight the need for examining risk factors at multiple levels and to increase the emphasis on transdiagnostic developmental trajectories as a key variable associated with etiologic subtypes. This will be increasingly feasible now that large, longitudinal datasets are becoming available and researchers have access to more sophisticated analytic tools, such as machine learning, which can identify more homogenous subtypes with the ultimate goal of enhancing options for treatment and preventive intervention. En ligne : https://dx.doi.org/10.1017/S0954579424000397 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=545 [article] Developmental perspectives on the origins of psychotic disorders: The need for a transdiagnostic approach : Development and Psychopathology [Texte imprimé et/ou numérique] / Elaine F. WALKER, Auteur ; Katrina Aberizk, Auteur ; Emerald Yuan, Auteur ; Zarina Bilgrami, Auteur ; Benson S. Ku, Auteur ; Ryan M. Guest, Auteur . - 2024 . - p.2559-2569. Langues : Anglais (eng) in Development and Psychopathology > 36-5 (December 2024) . - p.2559-2569 Mots-clés : Development  etiology  psychosis  research  risk Index. décimale : PER Périodiques Résumé : Research on serious mental disorders, particularly psychosis, has revealed highly variable symptom profiles and developmental trajectories prior to illness-onset. As Dante Cicchetti pointed out decades before the term "transdiagnostic" was widely used, the pathways to psychopathology emerge in a system involving equifinality and multifinality. Like most other psychological disorders, psychosis is associated with multiple domains of risk factors, both genetic and environmental, and there are many transdiagnostic developmental pathways that can lead to psychotic syndromes. In this article, we discuss our current understanding of heterogeneity in the etiology of psychosis and its implications for approaches to conceptualizing etiology and research. We highlight the need for examining risk factors at multiple levels and to increase the emphasis on transdiagnostic developmental trajectories as a key variable associated with etiologic subtypes. This will be increasingly feasible now that large, longitudinal datasets are becoming available and researchers have access to more sophisticated analytic tools, such as machine learning, which can identify more homogenous subtypes with the ultimate goal of enhancing options for treatment and preventive intervention. En ligne : https://dx.doi.org/10.1017/S0954579424000397 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=545

Maternal depression and infant cortisol: influences of timing, comorbidity and treatment / Patricia A. BRENNAN in Journal of Child Psychology and Psychiatry, 49-10 (October 2008)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 49-10 (October 2008) . - p.1099-1107 Titre : Maternal depression and infant cortisol: influences of timing, comorbidity and treatment Type de document : Texte imprimé et/ou numérique Auteurs : Patricia A. BRENNAN, Auteur ; Rebecca PARGAS, Auteur ; Elaine F. WALKER, Auteur ; Paula GREEN, Auteur ; D. Jeffrey NEWPORT, Auteur ; Zachary STOWE, Auteur Année de publication : 2008 Article en page(s) : p.1099-1107 Langues : Anglais (eng) Mots-clés : Anxiety cortisol depression infant perinatal prenatal psychotropic stress Index. décimale : PER Périodiques Résumé : Background: The current study examines the relationship between maternal depression and infant cortisol concentrations. The potential roles of comorbid maternal anxiety disorders, timing of maternal depression, and maternal treatment with psychotropic medications during pregnancy are addressed. Methods: Women with 6-month-old infants (105 boys and 84 girls) participated in a laboratory paradigm that included infant saliva collection at six points, noise burst and arm restraint stressor tasks, and a diagnostic interview of the mother. Results: Lifetime history of maternal depression was associated with increased baseline and mean (average) infant cortisol levels. Comorbidity with anxiety disorder was related to infant cortisol reactivity. Peripartum (prepartum and/or postpartum) maternal depression, rather than a pre-pregnancy history of disorder, was associated with higher infant cortisol reactivity. Prenatal and postnatal exposure to maternal disorder had similar effects, but prenatal maternal psychotropic medication treatment appeared to attenuate infant cortisol increases associated with prenatal maternal disorder exposure. Conclusions: These data suggest that exposure to maternal depression and anxiety during pregnancy and the postpartum period may increase infant salivary cortisol. This maternal depression–infant cortisol association is independent of the effects of delivery complications, and appears to be modulated by prenatal maternal psychotropic treatment. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.01914.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=607 [article] Maternal depression and infant cortisol: influences of timing, comorbidity and treatment [Texte imprimé et/ou numérique] / Patricia A. BRENNAN, Auteur ; Rebecca PARGAS, Auteur ; Elaine F. WALKER, Auteur ; Paula GREEN, Auteur ; D. Jeffrey NEWPORT, Auteur ; Zachary STOWE, Auteur . - 2008 . - p.1099-1107. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 49-10 (October 2008) . - p.1099-1107 Mots-clés : Anxiety cortisol depression infant perinatal prenatal psychotropic stress Index. décimale : PER Périodiques Résumé : Background: The current study examines the relationship between maternal depression and infant cortisol concentrations. The potential roles of comorbid maternal anxiety disorders, timing of maternal depression, and maternal treatment with psychotropic medications during pregnancy are addressed. Methods: Women with 6-month-old infants (105 boys and 84 girls) participated in a laboratory paradigm that included infant saliva collection at six points, noise burst and arm restraint stressor tasks, and a diagnostic interview of the mother. Results: Lifetime history of maternal depression was associated with increased baseline and mean (average) infant cortisol levels. Comorbidity with anxiety disorder was related to infant cortisol reactivity. Peripartum (prepartum and/or postpartum) maternal depression, rather than a pre-pregnancy history of disorder, was associated with higher infant cortisol reactivity. Prenatal and postnatal exposure to maternal disorder had similar effects, but prenatal maternal psychotropic medication treatment appeared to attenuate infant cortisol increases associated with prenatal maternal disorder exposure. Conclusions: These data suggest that exposure to maternal depression and anxiety during pregnancy and the postpartum period may increase infant salivary cortisol. This maternal depression–infant cortisol association is independent of the effects of delivery complications, and appears to be modulated by prenatal maternal psychotropic treatment. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.01914.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=607

Potentially important periods of change in the development of social and role functioning in youth at clinical high risk for psychosis / Eva VELTHORST in Development and Psychopathology, 30-1 (February 2018)  

Public ISBD [article]  inDevelopment and Psychopathology > 30-1 (February 2018) . - p.39-47 Titre : Potentially important periods of change in the development of social and role functioning in youth at clinical high risk for psychosis Type de document : Texte imprimé et/ou numérique Auteurs : Eva VELTHORST, Auteur ; Jamie ZINBERG, Auteur ; Jean ADDINGTON, Auteur ; Kristin S. CADENHEAD, Auteur ; Tyrone D. CANNON, Auteur ; Ricardo E. CARRIÓN, Auteur ; Andrea M. AUTHER, Auteur ; Barbara A. CORNBLATT, Auteur ; Thomas H. MCGLASHAN, Auteur ; Daniel H. MATHALON, Auteur ; Diana O. PERKINS, Auteur ; Larry J. SEIDMAN, Auteur ; Ming T. TSUANG, Auteur ; Elaine F. WALKER, Auteur ; Scott W. WOODS, Auteur ; Abraham REICHENBERG, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : p.39-47 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The developmental course of daily functioning prior to first psychosis-onset remains poorly understood. This study explored age-related periods of change in social and role functioning. The longitudinal study included youth (aged 12–23, mean follow-up years = 1.19) at clinical high risk (CHR) for psychosis (converters [CHR-C], n = 83; nonconverters [CHR-NC], n = 275) and a healthy control group (n = 164). Mixed-model analyses were performed to determine age-related differences in social and role functioning. We limited our analyses to functioning before psychosis conversion; thus, data of CHR-C participants gathered after psychosis onset were excluded. In controls, social and role functioning improved over time. From at least age 12, functioning in CHR was poorer than in controls, and this lag persisted over time. Between ages 15 and 18, social functioning in CHR-C stagnated and diverged from that of CHR-NC, who continued to improve (p = .001). Subsequently, CHR-C lagged behind in improvement between ages 21 and 23, further distinguishing them from CHR-NC (p < .001). A similar period of stagnation was apparent for role functioning, but to a lesser extent (p = .007). The results remained consistent when we accounted for the time to conversion. Our findings suggest that CHR-C start lagging behind CHR-NC in social and role functioning in adolescence, followed by a period of further stagnation in adulthood. En ligne : https://doi.org/10.1017/S0954579417000451 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=335 [article] Potentially important periods of change in the development of social and role functioning in youth at clinical high risk for psychosis [Texte imprimé et/ou numérique] / Eva VELTHORST, Auteur ; Jamie ZINBERG, Auteur ; Jean ADDINGTON, Auteur ; Kristin S. CADENHEAD, Auteur ; Tyrone D. CANNON, Auteur ; Ricardo E. CARRIÓN, Auteur ; Andrea M. AUTHER, Auteur ; Barbara A. CORNBLATT, Auteur ; Thomas H. MCGLASHAN, Auteur ; Daniel H. MATHALON, Auteur ; Diana O. PERKINS, Auteur ; Larry J. SEIDMAN, Auteur ; Ming T. TSUANG, Auteur ; Elaine F. WALKER, Auteur ; Scott W. WOODS, Auteur ; Abraham REICHENBERG, Auteur ; Carrie E. BEARDEN, Auteur . - p.39-47. Langues : Anglais (eng) in Development and Psychopathology > 30-1 (February 2018) . - p.39-47 Index. décimale : PER Périodiques Résumé : The developmental course of daily functioning prior to first psychosis-onset remains poorly understood. This study explored age-related periods of change in social and role functioning. The longitudinal study included youth (aged 12–23, mean follow-up years = 1.19) at clinical high risk (CHR) for psychosis (converters [CHR-C], n = 83; nonconverters [CHR-NC], n = 275) and a healthy control group (n = 164). Mixed-model analyses were performed to determine age-related differences in social and role functioning. We limited our analyses to functioning before psychosis conversion; thus, data of CHR-C participants gathered after psychosis onset were excluded. In controls, social and role functioning improved over time. From at least age 12, functioning in CHR was poorer than in controls, and this lag persisted over time. Between ages 15 and 18, social functioning in CHR-C stagnated and diverged from that of CHR-NC, who continued to improve (p = .001). Subsequently, CHR-C lagged behind in improvement between ages 21 and 23, further distinguishing them from CHR-NC (p < .001). A similar period of stagnation was apparent for role functioning, but to a lesser extent (p = .007). The results remained consistent when we accounted for the time to conversion. Our findings suggest that CHR-C start lagging behind CHR-NC in social and role functioning in adolescence, followed by a period of further stagnation in adulthood. En ligne : https://doi.org/10.1017/S0954579417000451 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=335

Prefrontal mechanisms of comorbidity from a transdiagnostic and ontogenic perspective / Allison N. MACDONALD in Development and Psychopathology, 28-4 pt1 (November 2016)  

Public ISBD [article]  inDevelopment and Psychopathology > 28-4 pt1 (November 2016) . - p.1147-1175 Titre : Prefrontal mechanisms of comorbidity from a transdiagnostic and ontogenic perspective Type de document : Texte imprimé et/ou numérique Auteurs : Allison N. MACDONALD, Auteur ; Katrina B. GOINES, Auteur ; Derek M. NOVACEK, Auteur ; Elaine F. WALKER, Auteur Article en page(s) : p.1147-1175 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Accumulating behavioral and genetic research suggests that most forms of psychopathology share common genetic and neural vulnerabilities and are manifestations of a relatively few core underlying processes. These findings support the view that comorbidity mostly arises, not from true co-occurrence of distinct disorders, but from the behavioral expression of shared vulnerability processes across the life span. The purpose of this review is to examine the role of the prefrontal cortex (PFC) in the shared vulnerability mechanisms underlying the clinical phenomena of comorbidity from a transdiagnostic and ontogenic perspective. In adopting this perspective, we suggest complex transactions between neurobiologically rooted vulnerabilities inherent in PFC circuitry and environmental factors (e.g., parenting, peers, stress, and substance use) across development converge on three key PFC-mediated processes: executive functioning, emotion regulation, and reward processing. We propose that individual differences and impairments in these PFC-mediated functions provide intermediate mechanisms for transdiagnostic symptoms and underlie behavioral tendencies that evoke and interact with environmental risk factors to further potentiate vulnerability. En ligne : http://dx.doi.org/10.1017/s0954579416000742 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294 [article] Prefrontal mechanisms of comorbidity from a transdiagnostic and ontogenic perspective [Texte imprimé et/ou numérique] / Allison N. MACDONALD, Auteur ; Katrina B. GOINES, Auteur ; Derek M. NOVACEK, Auteur ; Elaine F. WALKER, Auteur . - p.1147-1175. Langues : Anglais (eng) in Development and Psychopathology > 28-4 pt1 (November 2016) . - p.1147-1175 Index. décimale : PER Périodiques Résumé : Accumulating behavioral and genetic research suggests that most forms of psychopathology share common genetic and neural vulnerabilities and are manifestations of a relatively few core underlying processes. These findings support the view that comorbidity mostly arises, not from true co-occurrence of distinct disorders, but from the behavioral expression of shared vulnerability processes across the life span. The purpose of this review is to examine the role of the prefrontal cortex (PFC) in the shared vulnerability mechanisms underlying the clinical phenomena of comorbidity from a transdiagnostic and ontogenic perspective. In adopting this perspective, we suggest complex transactions between neurobiologically rooted vulnerabilities inherent in PFC circuitry and environmental factors (e.g., parenting, peers, stress, and substance use) across development converge on three key PFC-mediated processes: executive functioning, emotion regulation, and reward processing. We propose that individual differences and impairments in these PFC-mediated functions provide intermediate mechanisms for transdiagnostic symptoms and underlie behavioral tendencies that evoke and interact with environmental risk factors to further potentiate vulnerability. En ligne : http://dx.doi.org/10.1017/s0954579416000742 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294

Premorbid functional development and conversion to psychosis in clinical high-risk youths / Sarah I. TARBOX in Development and Psychopathology, 25-4 (November 2013)  

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Prenatal maternal stress from a natural disaster predicts dermatoglyphic asymmetry in humans / Suzanne KING in Development and Psychopathology, 21-2 (May 2009)  

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Stress perception following childhood adversity: Unique associations with adversity type and sex / Allison M. LOPILATO in Development and Psychopathology, 32-1 (February 2020)  

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Visual-Motor Integration Deficits in 3q29 Deletion Syndrome / T. Lindsey BURRELL ; Joseph F. CUBELLS ; Cheryl KLAIMAN ; Melissa M. MURPHY ; Celine A. SAULNIER ; Elaine F. WALKER ; Stormi Pulver WHITE ; Jennifer G. MULLE in Journal of Autism and Developmental Disorders, 54-8 (August 2024)  

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