5925 recherche sur le mot-clé 'neurogenetic-disorder'

Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics / Allan L. REISS in Journal of Child Psychology and Psychiatry, 50-1-2 (January/February 2009)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 50-1-2 (January/February 2009) . - p.87-98 Titre : Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics Type de document : texte imprimé Auteurs : Allan L. REISS, Auteur Année de publication : 2009 Article en page(s) : p.87-98 Langues : Anglais (eng) Mots-clés : Autism fragile-X-syndrome Rett-syndrome interdisciplinary-training developmental-disorder brain-development genetic-risk-factor neurogenetic-disorder academic-medicine clinical-neuroscience disciplinary-boundaries Index. décimale : PER Périodiques Résumé : Background: Significant advances in understanding brain development and behavior have not been accompanied by revisions of traditional academic structure. Disciplinary isolation and a lack of meaningful interdisciplinary opportunities are persistent barriers in academic medicine. To enhance clinical practice, research, and training for the next generation, academic centers will need to take bold steps that challenge traditional departmental boundaries. Such change is not only desirable but, in fact, necessary to bring about a truly innovative and more effective approach to treating disorders of the developing brain. Methods: I focus on developmental disorders as a convergence point for transcending traditional academic boundaries. First, the current taxonomy of developmental disorders is described with emphasis on how current diagnostic systems inadvertently hinder research progress. Second, I describe the clinical features of autism, a phenomenologically defined condition, and Rett and fragile X syndromes, neurogenetic diseases that are risk factors for autism. Finally, I describe how the fields of psychiatry, psychology, neurology, and pediatrics now have an unprecedented opportunity to promote an interdisciplinary approach to training, research, and clinical practice and, thus, advance a deeper understanding of developmental disorders. Results: Research focused on autism is increasingly demonstrating the heterogeneity of individuals diagnosed by DSM criteria. This heterogeneity hinders the ability of investigators to replicate research results as well as progress towards more effective, etiology-specific interventions. In contrast, fragile X and Rett syndromes are 'real' diseases for which advances in research are rapidly accelerating towards more disease-specific human treatment trials. Conclusions: A major paradigm shift is required to improve our ability to diagnose and treat individuals with developmental disorders. This paradigm shift must take place at all levels – training, research and clinical activity. As clinicians and scientists who are currently constrained by disciplinary-specific history and training, we must move towards redefining ourselves as clinical neuroscientists with shared interests and expertise that permit a more cohesive and effective approach to improving the lives of patients. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.02046.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=694 [article] Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics [texte imprimé] / Allan L. REISS, Auteur . - 2009 . - p.87-98. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 50-1-2 (January/February 2009) . - p.87-98 Mots-clés : Autism fragile-X-syndrome Rett-syndrome interdisciplinary-training developmental-disorder brain-development genetic-risk-factor neurogenetic-disorder academic-medicine clinical-neuroscience disciplinary-boundaries Index. décimale : PER Périodiques Résumé : Background: Significant advances in understanding brain development and behavior have not been accompanied by revisions of traditional academic structure. Disciplinary isolation and a lack of meaningful interdisciplinary opportunities are persistent barriers in academic medicine. To enhance clinical practice, research, and training for the next generation, academic centers will need to take bold steps that challenge traditional departmental boundaries. Such change is not only desirable but, in fact, necessary to bring about a truly innovative and more effective approach to treating disorders of the developing brain. Methods: I focus on developmental disorders as a convergence point for transcending traditional academic boundaries. First, the current taxonomy of developmental disorders is described with emphasis on how current diagnostic systems inadvertently hinder research progress. Second, I describe the clinical features of autism, a phenomenologically defined condition, and Rett and fragile X syndromes, neurogenetic diseases that are risk factors for autism. Finally, I describe how the fields of psychiatry, psychology, neurology, and pediatrics now have an unprecedented opportunity to promote an interdisciplinary approach to training, research, and clinical practice and, thus, advance a deeper understanding of developmental disorders. Results: Research focused on autism is increasingly demonstrating the heterogeneity of individuals diagnosed by DSM criteria. This heterogeneity hinders the ability of investigators to replicate research results as well as progress towards more effective, etiology-specific interventions. In contrast, fragile X and Rett syndromes are 'real' diseases for which advances in research are rapidly accelerating towards more disease-specific human treatment trials. Conclusions: A major paradigm shift is required to improve our ability to diagnose and treat individuals with developmental disorders. This paradigm shift must take place at all levels – training, research and clinical activity. As clinicians and scientists who are currently constrained by disciplinary-specific history and training, we must move towards redefining ourselves as clinical neuroscientists with shared interests and expertise that permit a more cohesive and effective approach to improving the lives of patients. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.02046.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=694

Empathic Accuracy in Adolescent Girls with Turner Syndrome / M. KLABUNDE in Journal of Autism and Developmental Disorders, 52-5 (May 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2203-2212 Titre : Empathic Accuracy in Adolescent Girls with Turner Syndrome Type de document : texte imprimé Auteurs : M. KLABUNDE, Auteur ; A. PICCIRILLI, Auteur ; J. BRUNO, Auteur ; M. GENDRON, Auteur ; Allan L. REISS, Auteur Article en page(s) : p.2203-2212 Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder  Child  Empathy  Female  Humans  Male  Psychomotor Performance  Turner Syndrome/psychology  Social cognition and neurogenetic disorders  Theory of mind  Turner syndrome Index. décimale : PER Périodiques Résumé : To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT) -a naturalistic social cognition task- and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared across positive and negative emotionally valanced videos. We found that TS differs from TD on empathic accuracy ratings for negative videos; no differences were detected for the positive videos or for the control line tracking task. Thus, our findings suggest impaired detection of negatively valanced empathic interactions in TS and may help inform the future development of social-cognition treatment strategies for girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-05089-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] Empathic Accuracy in Adolescent Girls with Turner Syndrome [texte imprimé] / M. KLABUNDE, Auteur ; A. PICCIRILLI, Auteur ; J. BRUNO, Auteur ; M. GENDRON, Auteur ; Allan L. REISS, Auteur . - p.2203-2212. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2203-2212 Mots-clés : Adolescent  Autism Spectrum Disorder  Child  Empathy  Female  Humans  Male  Psychomotor Performance  Turner Syndrome/psychology  Social cognition and neurogenetic disorders  Theory of mind  Turner syndrome Index. décimale : PER Périodiques Résumé : To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT) -a naturalistic social cognition task- and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared across positive and negative emotionally valanced videos. We found that TS differs from TD on empathic accuracy ratings for negative videos; no differences were detected for the positive videos or for the control line tracking task. Thus, our findings suggest impaired detection of negatively valanced empathic interactions in TS and may help inform the future development of social-cognition treatment strategies for girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-05089-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome / Kathleen E. WILSON in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome Type de document : texte imprimé Auteurs : Kathleen E. WILSON, Auteur ; Ari M. FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Allysa WARLING, Auteur ; Ethan WHITMAN, Auteur ; Liv CLASEN, Auteur ; Erin TORRES, Auteur ; Jonathan BLUMENTHAL, Auteur ; Armin RAZNAHAN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  Child, Preschool  DNA Copy Number Variations  Family  Humans  Male  Sex Chromosome Disorders  XYY Karyotype  Young Adult  Copy number variants  Modeling penetrance  Neurogenetic disorders  Precision psychiatry  Sex chromosome aneuploidies  Health (NIMH). The authors have no additional competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology. METHODS: We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits. RESULTS: Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R(2) ~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. CONCLUSIONS: We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." Date of registry: 01 October 1989. En ligne : https://dx.doi.org/10.1186/s11689-021-09360-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome [texte imprimé] / Kathleen E. WILSON, Auteur ; Ari M. FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Allysa WARLING, Auteur ; Ethan WHITMAN, Auteur ; Liv CLASEN, Auteur ; Erin TORRES, Auteur ; Jonathan BLUMENTHAL, Auteur ; Armin RAZNAHAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Child  Child, Preschool  DNA Copy Number Variations  Family  Humans  Male  Sex Chromosome Disorders  XYY Karyotype  Young Adult  Copy number variants  Modeling penetrance  Neurogenetic disorders  Precision psychiatry  Sex chromosome aneuploidies  Health (NIMH). The authors have no additional competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology. METHODS: We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits. RESULTS: Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R(2) ~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. CONCLUSIONS: We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." Date of registry: 01 October 1989. En ligne : https://dx.doi.org/10.1186/s11689-021-09360-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

A 20-year study of suicide death in a statewide autism population / Anne V. KIRBY in Autism Research, 12-4 (April 2019)  

Public ISBD [article]  inAutism Research > 12-4 (April 2019) . - p.658-666 Titre : A 20-year study of suicide death in a statewide autism population Type de document : texte imprimé Auteurs : Anne V. KIRBY, Auteur ; Amanda V. BAKIAN, Auteur ; Yue ZHANG, Auteur ; Deborah A. BILDER, Auteur ; Brooks R. KEESHIN, Auteur ; Hilary COON, Auteur Année de publication : 2019 Article en page(s) : p.658-666 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  epidemiology  mental health  population  suicide Index. décimale : PER Périodiques Résumé : SCIENTIFIC SUMMARY: Growing concern about suicide risk among individuals with autism spectrum disorder (ASD) necessitates population-based research to determine rates in representative samples and to inform appropriate prevention efforts. This study used existing surveillance data in Utah to determine incidence of suicide among individuals with ASD over a 20-year period, and to characterize those who died. Between 1998 and 2017, 49 individuals with ASD died by suicide. Suicide cumulative incidence rates did not significantly differ between 1998 and 2012 across the ASD and non-ASD populations. Between 2013 and 2017, the cumulative incidence of suicide in the ASD population was 0.17%, which was significantly higher than in the non-ASD population (0.11%; P < 0.05). During this period, this difference was driven by suicide among females with ASD; suicide risk in females with ASD was over three times higher than in females without ASD (relative risk (RR): 3.42; P < 0.01). Among the individuals with ASD who died by suicide, average age at death and manner of death did not differ significantly between males and females. Ages at death by suicide ranged from 14 to 70 years (M[SD] = 32.41[15.98]). Individuals with ASD were significantly less likely to use firearms as a method of suicide (adjusted odds ratio: 0.33; P < 0.001). Study results expand understanding of suicide risk in ASD and point to the need for additional population-based research into suicide attempts and ideation, as well as exploration of additional risk factors. Findings also suggest a need for further study of female suicide risk in ASD. Autism Research 2019, 12: 658-666. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: This study examined suicide risk among individuals with autism spectrum disorder (ASD) in Utah over a 20-year period. Risk of suicide death in individuals with ASD was found to have increased over time and to be greater than in individuals without ASD between 2013 and 2017. Females with ASD were over three times as likely to die from suicide as females without ASD. Young people with ASD were at over twice the risk of suicide than young people without ASD. Individuals with ASD were less likely than others to die from firearm-related suicides. En ligne : https://dx.doi.org/10.1002/aur.2076 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 [article] A 20-year study of suicide death in a statewide autism population [texte imprimé] / Anne V. KIRBY, Auteur ; Amanda V. BAKIAN, Auteur ; Yue ZHANG, Auteur ; Deborah A. BILDER, Auteur ; Brooks R. KEESHIN, Auteur ; Hilary COON, Auteur . - 2019 . - p.658-666. Langues : Anglais (eng) in Autism Research > 12-4 (April 2019) . - p.658-666 Mots-clés : autism spectrum disorder  epidemiology  mental health  population  suicide Index. décimale : PER Périodiques Résumé : SCIENTIFIC SUMMARY: Growing concern about suicide risk among individuals with autism spectrum disorder (ASD) necessitates population-based research to determine rates in representative samples and to inform appropriate prevention efforts. This study used existing surveillance data in Utah to determine incidence of suicide among individuals with ASD over a 20-year period, and to characterize those who died. Between 1998 and 2017, 49 individuals with ASD died by suicide. Suicide cumulative incidence rates did not significantly differ between 1998 and 2012 across the ASD and non-ASD populations. Between 2013 and 2017, the cumulative incidence of suicide in the ASD population was 0.17%, which was significantly higher than in the non-ASD population (0.11%; P < 0.05). During this period, this difference was driven by suicide among females with ASD; suicide risk in females with ASD was over three times higher than in females without ASD (relative risk (RR): 3.42; P < 0.01). Among the individuals with ASD who died by suicide, average age at death and manner of death did not differ significantly between males and females. Ages at death by suicide ranged from 14 to 70 years (M[SD] = 32.41[15.98]). Individuals with ASD were significantly less likely to use firearms as a method of suicide (adjusted odds ratio: 0.33; P < 0.001). Study results expand understanding of suicide risk in ASD and point to the need for additional population-based research into suicide attempts and ideation, as well as exploration of additional risk factors. Findings also suggest a need for further study of female suicide risk in ASD. Autism Research 2019, 12: 658-666. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: This study examined suicide risk among individuals with autism spectrum disorder (ASD) in Utah over a 20-year period. Risk of suicide death in individuals with ASD was found to have increased over time and to be greater than in individuals without ASD between 2013 and 2017. Females with ASD were over three times as likely to die from suicide as females without ASD. Young people with ASD were at over twice the risk of suicide than young people without ASD. Individuals with ASD were less likely than others to die from firearm-related suicides. En ligne : https://dx.doi.org/10.1002/aur.2076 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / Tara L. WENGER in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 27p. Titre : 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening Type de document : texte imprimé Auteurs : Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening [texte imprimé] / Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 27p. Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

2D:4D Ratio and Autism Spectrum Disorder in Brunei Darussalam / Shirley H.F. LEE in Journal of Autism and Developmental Disorders, 51-12 (December 2021)  

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3-generation family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions associated with autism: An open-source catalog of findings / Diana SCHENDEL in Autism Research, 17-10 (October 2024)  

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A 3D approach to understanding heterogeneity in early developing autisms / Veronica MANDELLI in Molecular Autism, 15 (2024)  

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[3H]-Flunitrazepam-labeled Benzodiazepine Binding Sites in the Hippocampal Formation in Autism: A Multiple Concentration Autoradiographic Study / Jeffrey T. GUPTILL in Journal of Autism and Developmental Disorders, 37-5 (May 2007)  

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Aberrant functional connectivity of inhibitory control networks in children with autism spectrum disorder / Willa VOORHIES in Autism Research, 11-11 (November 2018)  

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